Details for: CACNA1A

Gene ID: 773

Symbol: CACNA1A

Ensembl ID: ENSG00000141837

Description: calcium voltage-gated channel subunit alpha1 A

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 293.5481
    Cell Significance Index: -45.6600
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 176.1923
    Cell Significance Index: -44.6900
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 85.8323
    Cell Significance Index: -34.8700
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 16.9064
    Cell Significance Index: -45.2900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 9.8325
    Cell Significance Index: 168.5000
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 7.7650
    Cell Significance Index: 170.0300
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 7.0627
    Cell Significance Index: 87.6000
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 5.8759
    Cell Significance Index: -12.8600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 4.7212
    Cell Significance Index: 208.8300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 4.6380
    Cell Significance Index: 175.6300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 4.1550
    Cell Significance Index: 118.5700
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 3.3090
    Cell Significance Index: 25.5100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 2.7711
    Cell Significance Index: 1916.6300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 2.6914
    Cell Significance Index: 180.9700
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: 2.5660
    Cell Significance Index: 26.7300
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: 2.3033
    Cell Significance Index: 29.8700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.6370
    Cell Significance Index: 328.3900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.6118
    Cell Significance Index: 578.1100
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 1.3464
    Cell Significance Index: 17.9600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 1.2552
    Cell Significance Index: 77.1500
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 1.0758
    Cell Significance Index: 8.8800
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.8538
    Cell Significance Index: 770.9600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.8018
    Cell Significance Index: 79.3200
  • Cell Name: L6 corticothalamic-projecting glutamatergic cortical neuron (CL4023042)
    Fold Change: 0.7106
    Cell Significance Index: 7.8400
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.6918
    Cell Significance Index: 16.5900
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.5215
    Cell Significance Index: 4.0000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.4424
    Cell Significance Index: 815.8500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.3958
    Cell Significance Index: 64.3800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3301
    Cell Significance Index: 62.8200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.3291
    Cell Significance Index: 18.4700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.2589
    Cell Significance Index: 28.1700
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: 0.2550
    Cell Significance Index: 3.1800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.1803
    Cell Significance Index: 277.5300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1701
    Cell Significance Index: 7.7100
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: 0.1533
    Cell Significance Index: 1.6700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0604
    Cell Significance Index: 1.7400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0276
    Cell Significance Index: 0.9700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0014
    Cell Significance Index: 1.9400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0005
    Cell Significance Index: 0.9500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0015
    Cell Significance Index: -1.0800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0059
    Cell Significance Index: -1.1700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0192
    Cell Significance Index: -11.9700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0423
    Cell Significance Index: -26.8600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0490
    Cell Significance Index: -26.7500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0504
    Cell Significance Index: -28.4400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0542
    Cell Significance Index: -39.7700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0621
    Cell Significance Index: -27.4400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0628
    Cell Significance Index: -28.5200
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0683
    Cell Significance Index: -1.3500
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: -0.0690
    Cell Significance Index: -1.0500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0702
    Cell Significance Index: -53.1100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0706
    Cell Significance Index: -2.3100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0817
    Cell Significance Index: -14.7300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.0819
    Cell Significance Index: -5.6700
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.0824
    Cell Significance Index: -1.0400
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.0845
    Cell Significance Index: -5.0800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0873
    Cell Significance Index: -18.3800
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0932
    Cell Significance Index: -1.3400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0962
    Cell Significance Index: -2.0900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1076
    Cell Significance Index: -5.6500
  • Cell Name: chandelier cell (CL4023083)
    Fold Change: -0.1102
    Cell Significance Index: -0.8900
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1150
    Cell Significance Index: -2.4400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1293
    Cell Significance Index: -37.1900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1521
    Cell Significance Index: -22.1100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1587
    Cell Significance Index: -21.8000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1649
    Cell Significance Index: -28.1600
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1749
    Cell Significance Index: -5.5700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.2324
    Cell Significance Index: -28.5700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.2362
    Cell Significance Index: -6.6000
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.2370
    Cell Significance Index: -2.2600
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.2449
    Cell Significance Index: -3.0900
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2695
    Cell Significance Index: -30.7700
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.2700
    Cell Significance Index: -5.4200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.2884
    Cell Significance Index: -37.2600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.3114
    Cell Significance Index: -39.9200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.3352
    Cell Significance Index: -39.5300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.3752
    Cell Significance Index: -43.7200
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: -0.3805
    Cell Significance Index: -4.5500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.3805
    Cell Significance Index: -43.6000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3849
    Cell Significance Index: -23.6000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.3873
    Cell Significance Index: -39.5600
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.4187
    Cell Significance Index: -6.3100
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.4295
    Cell Significance Index: -2.9100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.4331
    Cell Significance Index: -45.1000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.4448
    Cell Significance Index: -28.7000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.4585
    Cell Significance Index: -23.8800
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.4656
    Cell Significance Index: -10.0600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.4875
    Cell Significance Index: -37.4100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.4877
    Cell Significance Index: -22.7400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.5090
    Cell Significance Index: -40.3100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.5111
    Cell Significance Index: -26.5500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.5162
    Cell Significance Index: -38.4700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.5917
    Cell Significance Index: -18.9500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.5988
    Cell Significance Index: -37.7400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.6039
    Cell Significance Index: -42.7100
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.6502
    Cell Significance Index: -16.2200
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.6673
    Cell Significance Index: -7.7900
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.7479
    Cell Significance Index: -15.6100
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.7677
    Cell Significance Index: -10.7600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.7758
    Cell Significance Index: -36.4600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** The CACNA1A gene is a single copy gene located on chromosome 21q22.3. It encodes a 1,322-amino acid protein that forms a heterotetrameric channel complex with the beta2, alpha1A, and gamma1 subunits. The alpha1A subunit is the most abundant isoform and is responsible for the majority of calcium channel activity. The CACNA1A gene is highly expressed in the nervous system, with significant expression in Purkinje cells, stellate neurons, and other neuronal populations. **Pathways and Functions:** The CACNA1A gene plays a critical role in regulating calcium signaling in the nervous system through several pathways, including: 1. **Voltage-gated calcium channel activity**: The alpha1A subunit is essential for the activation of L-type CaV channels in response to depolarization. 2. **Calcium ion import across plasma membrane**: The channel complex regulates calcium influx into the cell, which is essential for neurotransmitter release, muscle contraction, and neuronal signaling. 3. **Regulation of insulin secretion**: The CACNA1A gene is also expressed in pancreatic beta cells and plays a role in regulating insulin secretion. 4. **Modulation of chemical synaptic transmission**: The channel complex modulates neurotransmitter release and synaptic plasticity. **Clinical Significance:** Mutations in the CACNA1A gene have been associated with a range of neurological disorders, including: 1. **Spinocerebellar ataxia type 3 (SCA3)**: A autosomal dominant disorder characterized by progressive cerebellar ataxia and cognitive decline. 2. **Cerebellar ataxia with oculomotor apraxia type 1 (COA1)**: A rare autosomal dominant disorder characterized by progressive cerebellar ataxia, oculomotor apraxia, and cognitive decline. 3. **Autism spectrum disorder (ASD)**: Some studies have implicated the CACNA1A gene in the pathogenesis of ASD, although the evidence is still limited and requires further investigation. In conclusion, the CACNA1A gene plays a critical role in regulating calcium signaling in the nervous system, and mutations in this gene have been associated with a range of neurological disorders. Further research is needed to fully understand the functional significance of the CACNA1A gene and its role in human disease.

Genular Protein ID: 2376218635

Symbol: CAC1A_HUMAN

Name: Calcium channel, L type, alpha-1 polypeptide isoform 4

UniProtKB Accession Codes:

O00555 J3KP41 P78510 P78511 Q16290 Q92690 Q99790 Q99791 Q99792 Q99793 Q9NS88 Q9UDC4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CORUM 1 CTD 1 ChEBI 4 ChEMBL 1 ChiTaRS 1 DNASU 1 DisGeNET 1 DrugBank 25 DrugCentral 1 EMBL 23 EMDB 3 Ensembl 4 ExpressionAtlas 1 GO 20 Gene3D 4 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 9 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 7 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 4 PRINTS 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 5 RNAct 1 Reactome 2 RefSeq 5 Rhea 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10049321

Title: Structural elements in domain IV that influence biophysical and pharmacological properties of human alpha1A-containing high-voltage-activated calcium channels.

PubMed ID: 10049321

DOI: 10.1016/s0006-3495(99)77300-5

PubMed ID: 8898206

Title: Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.

PubMed ID: 8898206

DOI: 10.1016/s0092-8674(00)81373-2

PubMed ID: 8988170

Title: Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.

PubMed ID: 8988170

DOI: 10.1038/ng0197-62

PubMed ID: 10753886

Title: Spinocerebellar ataxia type 6 mutation alters P-type calcium channel function.

PubMed ID: 10753886

DOI: 10.1074/jbc.275.15.10893

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

PubMed ID: 7823133

Title: Expression and antibody inhibition of P-type calcium channels in human small-cell lung carcinoma cells.

PubMed ID: 7823133

DOI: 10.1523/jneurosci.15-01-00274.1995

PubMed ID: 1335101

Title: Molecular diversity of neuronal-type calcium channels identified in small cell lung carcinoma.

PubMed ID: 1335101

DOI: 10.1016/s0025-6196(12)61144-6

PubMed ID: 8525433

Title: Characterization of cDNA clones containing CCA trinucleotide repeats derived from human brain.

PubMed ID: 8525433

DOI: 10.1007/bf02255782

PubMed ID: 11865310

Title: Differential modulation of Ca(v)2.1 channels by calmodulin and Ca2+-binding protein 1.

PubMed ID: 11865310

DOI: 10.1038/nn805

PubMed ID: 33539324

Title: Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia.

PubMed ID: 33539324

DOI: 10.1172/jci140625

PubMed ID: 18400181

Title: Crystal structure of the CaV2 IQ domain in complex with Ca2+/calmodulin: high-resolution mechanistic implications for channel regulation by Ca2+.

PubMed ID: 18400181

DOI: 10.1016/j.str.2008.01.011

PubMed ID: 9345107

Title: Progressive ataxia due to a missense mutation in a calcium-channel gene.

PubMed ID: 9345107

DOI: 10.1086/301613

PubMed ID: 9302278

Title: Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.

PubMed ID: 9302278

DOI: 10.1093/hmg/6.11.1973

PubMed ID: 10987655

Title: Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM.

PubMed ID: 10987655

DOI: 10.1007/s004390051099

PubMed ID: 10408532

Title: Genetic heterogeneity in Italian families with familial hemiplegic migraine.

PubMed ID: 10408532

DOI: 10.1212/wnl.53.1.26

PubMed ID: 10408533

Title: A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia.

PubMed ID: 10408533

DOI: 10.1212/wnl.53.1.34

PubMed ID: 11409427

Title: Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine.

PubMed ID: 11409427

DOI: 10.1002/ana.1031

PubMed ID: 11176968

Title: Missense CACNA1A mutation causing episodic ataxia type 2.

PubMed ID: 11176968

DOI: 10.1001/archneur.58.2.292

PubMed ID: 11439943

Title: The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel.

PubMed ID: 11439943

DOI: 10.1056/nejm200107053450103

PubMed ID: 11723274

Title: Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission.

PubMed ID: 11723274

DOI: 10.1212/wnl.57.10.1843

PubMed ID: 12420090

Title: Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene.

PubMed ID: 12420090

DOI: 10.1007/s00415-002-0860-8

PubMed ID: 15293273

Title: Functional implications of a novel EA2 mutation in the P/Q-type calcium channel.

PubMed ID: 15293273

DOI: 10.1002/ana.20169

PubMed ID: 15032980

Title: A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel alpha-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine.

PubMed ID: 15032980

DOI: 10.1111/j..2004.00187.x

PubMed ID: 15173248

Title: Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic ataxia 2.

PubMed ID: 15173248

DOI: 10.1136/jmg.2003.015396

PubMed ID: 14718690

Title: Clinical spectrum of episodic ataxia type 2.

PubMed ID: 14718690

DOI: 10.1212/01.wnl.0000101675.61074.50

PubMed ID: 16866717

Title: Migrainous vertigo: mutation analysis of the candidate genes CACNA1A, ATP1A2, SCN1A, and CACNB4.

PubMed ID: 16866717

DOI: 10.1111/j.1526-4610.2006.00504.x

PubMed ID: 16325861

Title: Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.

PubMed ID: 16325861

DOI: 10.1016/j.jns.2005.10.007

PubMed ID: 18400034

Title: CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine.

PubMed ID: 18400034

DOI: 10.1111/j.1399-0004.2008.00996.x

PubMed ID: 18602318

Title: Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation.

PubMed ID: 18602318

DOI: 10.1016/j.ejpn.2008.02.011

PubMed ID: 19232643

Title: Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene.

PubMed ID: 19232643

DOI: 10.1016/j.jns.2009.01.005

PubMed ID: 19429006

Title: The interplay of two single nucleotide polymorphisms in the CACNA1A gene may contribute to migraine susceptibility.

PubMed ID: 19429006

DOI: 10.1016/j.neulet.2009.01.081

PubMed ID: 20682717

Title: A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation.

PubMed ID: 20682717

DOI: 10.1136/jnnp.2008.163402

PubMed ID: 20129625

Title: Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.

PubMed ID: 20129625

DOI: 10.1016/j.jns.2010.01.010

PubMed ID: 21696515

Title: New mutation of CACNA1A gene in episodic ataxia type 2.

PubMed ID: 21696515

DOI: 10.1111/j.1442-200x.2011.03390.x

PubMed ID: 24836863

Title: Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A.

PubMed ID: 24836863

DOI: 10.1016/j.jns.2014.04.027

PubMed ID: 26716990

Title: A single amino acid deletion (deltaf1502) in the s6 segment of cav2.1 domain iii associated with congenital ataxia increases channel activity and promotes ca2+ influx.

PubMed ID: 26716990

DOI: 10.1371/journal.pone.0146035

PubMed ID: 27476654

Title: De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies.

PubMed ID: 27476654

DOI: 10.1016/j.ajhg.2016.06.003

PubMed ID: 27250579

Title: Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.

PubMed ID: 27250579

DOI: 10.1002/ajmg.a.37678

PubMed ID: 29053796

Title: Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.

PubMed ID: 29053796

DOI: 10.1093/brain/awx251

PubMed ID: 28900389

Title: Cerebellar Atrophy and Changes in Cytokines Associated with the CACNA1A R583Q Mutation in a Russian Familial Hemiplegic Migraine Type 1 Family.

PubMed ID: 28900389

DOI: 10.3389/fncel.2017.00263

PubMed ID: 28742085

Title: Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

PubMed ID: 28742085

DOI: 10.1371/journal.pgen.1006905

PubMed ID: 33798445

Title: Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.

PubMed ID: 33798445

DOI: 10.1016/j.ajhg.2021.03.013

PubMed ID: 38221525

Title: Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A.

PubMed ID: 38221525

DOI: 10.1038/s41439-023-00261-w

Sequence Information:

  • Length: 2506
  • Mass: 282564
  • Checksum: AEDF4D2A5E49263F
  • Sequence:
    • MARFGDEMPA RYGGGGSGAA AGVVVGSGGG RGAGGSRQGG QPGAQRMYKQ SMAQRARTMA 
LYNPIPVRQN CLTVNRSLFL FSEDNVVRKY AKKITEWPPF EYMILATIIA NCIVLALEQH 
LPDDDKTPMS ERLDDTEPYF IGIFCFEAGI KIIALGFAFH KGSYLRNGWN VMDFVVVLTG 
ILATVGTEFD LRTLRAVRVL RPLKLVSGIP SLQVVLKSIM KAMIPLLQIG LLLFFAILIF 
AIIGLEFYMG KFHTTCFEEG TDDIQGESPA PCGTEEPART CPNGTKCQPY WEGPNNGITQ 
FDNILFAVLT VFQCITMEGW TDLLYNSNDA SGNTWNWLYF IPLIIIGSFF MLNLVLGVLS 
GEFAKERERV ENRRAFLKLR RQQQIERELN GYMEWISKAE EVILAEDETD GEQRHPFDAL 
RRTTIKKSKT DLLNPEEAED QLADIASVGS PFARASIKSA KLENSTFFHK KERRMRFYIR 
RMVKTQAFYW TVLSLVALNT LCVAIVHYNQ PEWLSDFLYY AEFIFLGLFM SEMFIKMYGL 
GTRPYFHSSF NCFDCGVIIG SIFEVIWAVI KPGTSFGISV LRALRLLRIF KVTKYWASLR 
NLVVSLLNSM KSIISLLFLL FLFIVVFALL GMQLFGGQFN FDEGTPPTNF DTFPAAIMTV 
FQILTGEDWN EVMYDGIKSQ GGVQGGMVFS IYFIVLTLFG NYTLLNVFLA IAVDNLANAQ 
ELTKDEQEEE EAANQKLALQ KAKEVAEVSP LSAANMSIAV KEQQKNQKPA KSVWEQRTSE 
MRKQNLLASR EALYNEMDPD ERWKAAYTRH LRPDMKTHLD RPLVVDPQEN RNNNTNKSRA 
AEPTVDQRLG QQRAEDFLRK QARYHDRARD PSGSAGLDAR RPWAGSQEAE LSREGPYGRE 
SDHHAREGSL EQPGFWEGEA ERGKAGDPHR RHVHRQGGSR ESRSGSPRTG ADGEHRRHRA 
HRRPGEEGPE DKAERRARHR EGSRPARGGE GEGEGPDGGE RRRRHRHGAP ATYEGDARRE 
DKERRHRRRK ENQGSGVPVS GPNLSTTRPI QQDLGRQDPP LAEDIDNMKN NKLATAESAA 
PHGSLGHAGL PQSPAKMGNS TDPGPMLAIP AMATNPQNAA SRRTPNNPGN PSNPGPPKTP 
ENSLIVTNPS GTQTNSAKTA RKPDHTTVDI PPACPPPLNH TVVQVNKNAN PDPLPKKEEE 
KKEEEEDDRG EDGPKPMPPY SSMFILSTTN PLRRLCHYIL NLRYFEMCIL MVIAMSSIAL 
AAEDPVQPNA PRNNVLRYFD YVFTGVFTFE MVIKMIDLGL VLHQGAYFRD LWNILDFIVV 
SGALVAFAFT GNSKGKDINT IKSLRVLRVL RPLKTIKRLP KLKAVFDCVV NSLKNVFNIL 
IVYMLFMFIF AVVAVQLFKG KFFHCTDESK EFEKDCRGKY LLYEKNEVKA RDREWKKYEF 
HYDNVLWALL TLFTVSTGEG WPQVLKHSVD ATFENQGPSP GYRMEMSIFY VVYFVVFPFF 
FVNIFVALII ITFQEQGDKM MEEYSLEKNE RACIDFAISA KPLTRHMPQN KQSFQYRMWQ 
FVVSPPFEYT IMAMIALNTI VLMMKFYGAS VAYENALRVF NIVFTSLFSL ECVLKVMAFG 
ILNYFRDAWN IFDFVTVLGS ITDILVTEFG NNFINLSFLR LFRAARLIKL LRQGYTIRIL 
LWTFVQSFKA LPYVCLLIAM LFFIYAIIGM QVFGNIGIDV EDEDSDEDEF QITEHNNFRT 
FFQALMLLFR SATGEAWHNI MLSCLSGKPC DKNSGILTRE CGNEFAYFYF VSFIFLCSFL 
MLNLFVAVIM DNFEYLTRDS SILGPHHLDE YVRVWAEYDP AAWGRMPYLD MYQMLRHMSP 
PLGLGKKCPA RVAYKRLLRM DLPVADDNTV HFNSTLMALI RTALDIKIAK GGADKQQMDA 
ELRKEMMAIW PNLSQKTLDL LVTPHKSTDL TVGKIYAAMM IMEYYRQSKA KKLQAMREEQ 
DRTPLMFQRM EPPSPTQEGG PGQNALPSTQ LDPGGALMAH ESGLKESPSW VTQRAQEMFQ 
KTGTWSPEQG PPTDMPNSQP NSQSVEMREM GRDGYSDSEH YLPMEGQGRA ASMPRLPAEN 
QRRRGRPRGN NLSTISDTSP MKRSASVLGP KARRLDDYSL ERVPPEENQR HHQRRRDRSH 
RASERSLGRY TDVDTGLGTD LSMTTQSGDL PSKERDQERG RPKDRKHRQH HHHHHHHHHP 
PPPDKDRYAQ ERPDHGRARA RDQRWSRSPS EGREHMAHRQ GSSSVSGSPA PSTSGTSTPR 
RGRRQLPQTP STPRPHVSYS PVIRKAGGSG PPQQQQQQQQ QQQQQAVARP GRAATSGPRR 
YPGPTAEPLA GDRPPTGGHS SGRSPRMERR VPGPARSESP RACRHGGARW PASGPHVSEG 
PPGPRHHGYY RGSDYDEADG PGSGGGEEAM AGAYDAPPPV RHASSGATGR SPRTPRASGP 
ACASPSRHGR RLPNGYYPAH GLARPRGPGS RKGLHEPYSE SDDDWC

Genular Protein ID: 1725370948

Symbol: A0A087WW63_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A087WW63

Database IDs:

ARBA 15 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChEBI 4 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 9 Ensembl 2 ExpressionAtlas 1 GO 3 Gene3D 4 GeneTree 1 HGNC 1 InterPro 7 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSR 2 PRINTS 2 PeptideAtlas 1 Pfam 3 PhylomeDB 1 Proteomes 2 RefSeq 1 Rhea 1 RuleBase 1 SAM 3 SMART 2 SMR 1 SUPFAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

Sequence Information:

  • Length: 2512
  • Mass: 283131
  • Checksum: 1671032E96D172D0
  • Sequence:
    • MARFGDEMPA RYGGGGSGAA AGVVVGSGGG RGAGGSRQGG QPGAQRMYKQ SMAQRARTMA 
LYNPIPVRQN CLTVNRSLFL FSEDNVVRKY AKKITEWPPF EYMILATIIA NCIVLALEQH 
LPDDDKTPMS ERLDDTEPYF IGIFCFEAGI KIIALGFAFH KGSYLRNGWN VMDFVVVLTG 
ILATVGTEFD LRTLRAVRVL RPLKLVSGIP SLQVVLKSIM KAMIPLLQIG LLLFFAILIF 
AIIGLEFYMG KFHTTCFEEG TDDIQGESPA PCGTEEPART CPNGTKCQPY WEGPNNGITQ 
FDNILFAVLT VFQCITMEGW TDLLYNSNDA SGNTWNWLYF IPLIIIGSFF MLNLVLGVLS 
GEFAKERERV ENRRAFLKLR RQQQIERELN GYMEWISKAE EVILAEDETD GEQRHPFDGA 
LRRTTIKKSK TDLLNPEEAE DQLADIASVG SPFARASIKS AKLENSTFFH KKERRMRFYI 
RRMVKTQAFY WTVLSLVALN TLCVAIVHYN QPEWLSDFLY YAEFIFLGLF MSEMFIKMYG 
LGTRPYFHSS FNCFDCGVII GSIFEVIWAV IKPGTSFGIS VLRALRLLRI FKVTKYWASL 
RNLVVSLLNS MKSIISLLFL LFLFIVVFAL LGMQLFGGQF NFDEGTPPTN FDTFPAAIMT 
VFQILTGEDW NEVMYDGIKS QGGVQGGMVF SIYFIVLTLF GNYTLLNVFL AIAVDNLANA 
QELTKVEADE QEEEEAANQK LALQKAKEVA EVSPLSAANM SIAVKEQQKN QKPAKSVWEQ 
RTSEMRKQNL LASREALYNE MDPDERWKAA YTRHLRPDMK THLDRPLVVD PQENRNNNTN 
KSRAAEPTVD QRLGQQRAED FLRKQARYHD RARDPSGSAG LDARRPWAGS QEAELSREGP 
YGRESDHHAR EGSLEQPGFW EGEAERGKAG DPHRRHVHRQ GGSRESRSGS PRTGADGEHR 
RHRAHRRPGE EGPEDKAERR ARHREGSRPA RGGEGEGEGP DGGERRRRHR HGAPATYEGD 
ARREDKERRH RRRKENQGSG VPVSGPNLST TRPIQQDLGR QDPPLAEDID NMKNNKLATA 
ESAAPHGSLG HAGLPQSPAK MGNSTDPGPM LAIPAMATNP QNAASRRTPN NPGNPSNPGP 
PKTPENSLIV TNPSGTQTNS AKTARKPDHT TVDIPPACPP PLNHTVVQVN KNANPDPLPK 
KEEEKKEEEE DDRGEDGPKP MPPYSSMFIL STTNPLRRLC HYILNLRYFE MCILMVIAMS 
SIALAAEDPV QPNAPRNNVL RYFDYVFTGV FTFEMVIKMI DLGLVLHQGA YFRDLWNILD 
FIVVSGALVA FAFTGNSKGK DINTIKSLRV LRVLRPLKTI KRLPKLKAVF DCVVNSLKNV 
FNILIVYMLF MFIFAVVAVQ LFKGKFFHCT DESKEFEKDC RGKYLLYEKN EVKARDREWK 
KYEFHYDNVL WALLTLFTVS TGEGWPQVLK HSVDATFENQ GPSPGYRMEM SIFYVVYFVV 
FPFFFVNIFV ALIIITFQEQ GDKMMEEYSL EKNERACIDF AISAKPLTRH MPQNKQSFQY 
RMWQFVVSPP FEYTIMAMIA LNTIVLMMKF YGASVAYENA LRVFNIVFTS LFSLECVLKV 
MAFGILNYFR DAWNIFDFVT VLGSITDILV TEFGNPNNFI NLSFLRLFRA ARLIKLLRQG 
YTIRILLWTF VQSFKALPYV CLLIAMLFFI YAIIGMQVFG NIGIDVEDED SDEDEFQITE 
HNNFRTFFQA LMLLFRSATG EAWHNIMLSC LSGKPCDKNS GILTRECGNE FAYFYFVSFI 
FLCSFLMLNL FVAVIMDNFE YLTRDSSILG PHHLDEYVRV WAEYDPAAWG RMPYLDMYQM 
LRHMSPPLGL GKKCPARVAY KRLLRMDLPV ADDNTVHFNS TLMALIRTAL DIKIAKGGAD 
KQQMDAELRK EMMAIWPNLS QKTLDLLVTP HKSTDLTVGK IYAAMMIMEY YRQSKAKKLQ 
AMREEQDRTP LMFQRMEPPS PTQEGGPGQN ALPSTQLDPG GALMAHESGL KESPSWVTQR 
AQEMFQKTGT WSPEQGPPTD MPNSQPNSQS VEMREMGRDG YSDSEHYLPM EGQGRAASMP 
RLPAENQRRR GRPRGNNLST ISDTSPMKRS ASVLGPKARR LDDYSLERVP PEENQRHHQR 
RRDRSHRASE RSLGRYTDVD TGLGTDLSMT TQSGDLPSKE RDQERGRPKD RKHRQHHHHH 
HHHHHPPPPD KDRYAQERPD HGRARARDQR WSRSPSEGRE HMAHRQGSSS VSGSPAPSTS 
GTSTPRRGRR QLPQTPSTPR PHVSYSPVIR KAGGSGPPQQ QQQQQQQQQQ QAVARPGRAA 
TSGPRRYPGP TAEPLAGDRP PTGGHSSGRS PRMERRVPGP ARSESPRACR HGGARWPASG 
PHVSEGPPGP RHHGYYRGSD YDEADGPGSG GGEEAMAGAY DAPPPVRHAS SGATGRSPRT 
PRASGPACAS PSRHGRRLPN GYYPAHGLAR PRGPGSRKGL HEPYSESDDD WC

Genular Protein ID: 2318684211

Symbol: Q9NS89_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q9NS89

Database IDs:

ARBA 15 BioGRID-ORCS 1 CTD 1 ChEBI 4 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 GO 6 Gene3D 4 InterPro 7 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSR 2 PRINTS 2 PeptideAtlas 1 Pfam 3 RefSeq 2 Rhea 1 RuleBase 1 SAM 3 SMART 2 SUPFAM 1

Citations:

PubMed ID: 10753886

Title: Spinocerebellar ataxia type 6 mutation alters P-type calcium channel function.

PubMed ID: 10753886

DOI: 10.1074/jbc.275.15.10893

Sequence Information:

  • Length: 2472
  • Mass: 278848
  • Checksum: 7336313446F56240
  • Sequence:
    • MARFGDEMPA RYGGGGSGAA AGVVVGSGGG RGAGGSRQGG QPGAQRMYKQ SMAQRARTMA 
LYNPIPVRQN CLTVNRSLFL FSEDNVVRKY AKKITEWPPF EYMILATIIA NCIVLALEQH 
LPDDDKTPMS ERLDDTEPYF IGIFCFEAGI KIIALGFAFH KGSYLRNGWN VMDFVVVLTG 
ILATVGTEFD LRTLRAVRVL RPLKLVSGIP SLQVVLKSIM KAMIPLLQIG LLLFFAILIF 
AIIGLEFYMG KFHTTCFEEG TDDIQGESPA PCGTEEPART CPNGTKCQPY WEGPNNGITQ 
FDNILFAVLT VFQCITMEGW TDLLYNSNDA SGNTWNWLYF IPLIIIGSFF MLNLVLGVLS 
GEFAKERERV ENRRAFLKLR RQQQIERELN GYMEWISKAE EVILAEDETD GEQRHPFDGA 
LRRTTIKKSK TDLLNPEEAE DQLADIASVG SPFARASIKS TKLENSTFFH KKERRMRFYI 
RRMVKTQAFY WTVLSLVALN TLCVAIVHYN QPEWLSDFLY YAEFIFLGLF MSEMFIKMYG 
LGTRPYFHSS FNCFDCGVII GSIFEVIWAV IKPGTSFGIS VLRALRLLRI FKVTKYWASL 
RNLVVSLLNS MKSIISLLFL LFLFIVVFAL LGMQLFGGQF NFDEGTPPTN FDTFPAARMT 
VFQSLTGEDW NEVMYDGIKS QGGVQGGMVF SIYFIVLTLF GNYTLLNVFL AIAVDNLANV 
LELTKDEQEE EEAANQKLAL QKAKEVAEVS PLSAANMSIA VKEQQKNQKP AKSVWEQRTS 
EMRKQNLLAS REALYNEMDP DERWKAAYTR HLRPDMKTHL DRPLVVDPQE NRNNNTNKSR 
AAEPTVDQRL GQQRAEDFLR KQARYHDRAR DPSGSAGLDA RRPWAGSQEA ELSREDPYGR 
ESDHHAREGS LEQPGFWDGE AERGKAGDPH RRHVHRQGGS RESRSGSPRT GADGEHRRHR 
AHRRPGEEGP EDKAERRARH REGSRPARGG EGEGEGPDGG ERRRRHRHGA PATYEGDARR 
EDKERRHRRR KENQGSGVPV SGPNLSTTRP IQQDLGRQDP PLAEDIDNMK NNKLATAESA 
APHGSLGHAG LPQSPAKMGN STDPGPMLAI PAMATNPQNA ASRRTPNNPG NPSNPGPPKT 
PENSLIVTNP SGTQTNSAKT ARKPDHTTVD IPPACPPPLN HTVVQVNKNA NPDPLPKKEE 
EKKEEEEDDR GEDGPKPMPP YSSMFILSTT NPLRRLCHYI LNLRYFEMCI LMVIAMSSIA 
LAAEDPVQPN APRNNVLRYF DYVFTGVFTF EMVIKMIDLG LVLHQGAYFR DLWNILDFIV 
VSGALVAFAF TGNSKGKDIN TIKSLRVLRV LRPLKTIKRL PKLKAVFDCV VNSLKNVFNI 
LIVYMLFMFI FAVVAVQLFK GKFFHCTDES KEFEKDCRGK YLLYEKNEVK ARDREWKKYE 
FHYDNVLWAL LTLFTVSTGE GWPQVLKHSV DATFENQGPS PGYRMEMSIF YVVYFVVFPF 
FFVNIFVALI IITFQEQGDK MMEEYSLEKN ERACIDFAIS AKPLTRHMPQ NKQSFQYRMW 
QFVVSPPFEY TIMAMIALNT IVLMMKFYGA SVAYENALRV FNIVFTSLFS LECVLKVMAF 
GILNYFRDAW NIFDFVTVLG SITDILVTEF GNNFINLSFL RLFRAARLIK LLRQGYTIRI 
LLWTFVQSFK ALPYVCLLIA MLFFIYAIIG MQVFGNIGID VEDEDSDEDE FQITEHNNFR 
TFFQALMLLF RSATGEAWHN IMLSCLSGKP CDKNSGILTR ECGNEFAYFY FVSFIFLCSF 
LMLNLFVAVI MDNFEYLTRD SSILGPHHLD EYVRVWAEYD PAACGRIHYK DMYSLLRVMS 
PPLGLGKKCP PGVAYKRLLR MDLPVADDNT VHFNSTLMAL IRTALDIKIA KGGADKQQMD 
AELRKEMMAI WPNLSQKTLD LLVTPHKSTD LTVGKIYAAM MIMEYYRQSK AKKLQAMREE 
QDRTPLMFQR MEPPSPTQEG GPGQNALPST QLDPGGALMA HESGLKESPS WVTQRAQEMF 
QKTGTWSPEQ GPPTDMPNSQ PNSQSVEMRE MGRDGYSDSE HYLPMEGQGR AASMPRLPAE 
NQRRRGRPRG NNLSTISDTS PMKRSASVLG PKARRLDDYS LERVPPEENQ RHHQRRRDRS 
HRASERSLGR YTDVDTGLGT DLSMTTQSGD LPSKERDQER GRPKDRKHRQ HHHHHHHHHH 
PPPPDKDRYA QERPDHGRAR ARDQRWSRSP SEGREHMAHR QGSSSVSGSP APSTSGTSTS 
RRGRRQLPQT PSTPRPHVSY SPVIRKAGGS GPPQQQQQQQ QQQQQQQQQQ QQQQQQQAVA 
RPGRAATSGP RRYPGPTAEP LAGDRPPTGG HSSGRSPRME RRVPGPARSE SPRACRHGGA 
RWPASGPHVS EGPPGPRHHG YYRGSDYDEA DGPGSGGGEE AMAGAYDAPP PVRHASSGAT 
GRSPRTPRAS GP

Genular Protein ID: 606760676

Symbol: B5TYJ1_HUMAN

Name: N/A

UniProtKB Accession Codes:

B5TYJ1

Database IDs:

ARBA 15 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChEBI 4 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 11 Ensembl 2 GO 3 Gene3D 4 GeneTree 1 HGNC 1 InterPro 7 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSR 2 PRINTS 2 PeptideAtlas 1 Pfam 3 PharmGKB 1 Proteomes 2 ProteomicsDB 1 RefSeq 1 Rhea 1 RuleBase 1 SAM 3 SMART 2 SUPFAM 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 11742003

Title: Functional consequences of P/Q-type Ca2+ channel Cav2.1 missense mutations associated with episodic ataxia type 2 and progressive ataxia.

PubMed ID: 11742003

DOI: 10.1074/jbc.M110948200

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

Sequence Information:

  • Length: 2263
  • Mass: 257143
  • Checksum: C331009AE19A1959
  • Sequence:
    • MARFGDEMPA RYGGGGSGAA AGVVVGSGGG RGAGGSRQGG QPGAQRMYKQ SMAQRARTMA 
LYNPIPVRQN CLTVNRSLFL FSEDNVVRKY AKKITEWPPF EYMILATIIA NCIVLALEQH 
LPDDDKTPMS ERLDDTEPYF IGIFCFEAGI KIIALGFAFH KGSYLRNGWN VMDFVVVLTG 
ILATVGTEFD LRTLRAVRVL RPLKLVSGIP SLQVVLKSIM KAMIPLLQIG LLLFFAILIF 
AIIGLEFYMG KFHTTCFEEG TDDIQGESPA PCGTEEPART CPNGTKCQPY WEGPNNGITQ 
FDNILFAVLT VFQCITMEGW TDLLYNSNDA SGNTWNWLYF IPLIIIGSFF MLNLVLGVLS 
GEFAKERERV ENRRAFLKLR RQQQIERELN GYMEWISKAE EVILAEDETD GEQRHPFDGA 
LRRTTIKKSK TDLLNPEEAE DQLADIASVG SPFARASIKS AKLENSTFFH KKERRMRFYI 
RRMVKTQAFY WTVLSLVALN TLCVAIVHYN QPEWLSDFLY YAEFIFLGLF MSEMFIKMYG 
LGTRPYFHSS FNCFDCGVII GSIFEVIWAV IKPGTSFGIS VLRALRLLRI FKVTKYWASL 
RNLVVSLLNS MKSIISLLFL LFLFIVVFAL LGMQLFGGQF NFDEGTPPTN FDTFPAAIMT 
VFQILTGEDW NEVMYDGIKS QGGVQGGMVF SIYFIVLTLF GNYTLLNVFL AIAVDNLANA 
QELTKDEQEE EEAANQKLAL QKAKEVAEVS PLSAANMSIA VKEQQKNQKP AKSVWEQRTS 
EMRKQNLLAS REALYNEMDP DERWKAAYTR HLRPDMKTHL DRPLVVDPQE NRNNNTNKSR 
AAEPTVDQRL GQQRAEDFLR KQARYHDRAR DPSGSAGLDA RRPWAGSQEA ELSREGPYGR 
ESDHHAREGS LEQPGFWEGE AERGKAGDPH RRHVHRQGGS RESRSGSPRT GADGEHRRHR 
AHRRPGEEGP EDKAERRARH REGSRPARGG EGEGEGPDGG ERRRRHRHGA PATYEGDARR 
EDKERRHRRR KENQGSGVPV SGPNLSTTRP IQQDLGRQDP PLAEDIDNMK NNKLATAESA 
APHGSLGHAG LPQSPAKMGN STDPGPMLAI PAMATNPQNA ASRRTPNNPG NPSNPGPPKT 
PENSLIVTNP SGTQTNSAKT ARKPDHTTVD IPPACPPPLN HTVVQVNKNA NPDPLPKKEE 
EKKEEEEDDR GEDGPKPMPP YSSMFILSTT NPLRRLCHYI LNLRYFEMCI LMVIAMSSIA 
LAAEDPVQPN APRNNVLRYF DYVFTGVFTF EMVIKMIDLG LVLHQGAYFR DLWNILDFIV 
VSGALVAFAF TGNSKGKDIN TIKSLRVLRV LRPLKTIKRL PKLKAVFDCV VNSLKNVFNI 
LIVYMLFMFI FAVVAVQLFK GKFFHCTDES KEFEKDCRGK YLLYEKNEVK ARDREWKKYE 
FHYDNVLWAL LTLFTVSTGE GWPQVLKHSV DATFENQGPS PGYRMEMSIF YVVYFVVFPF 
FFVNIFVALI IITFQEQGDK MMEEYSLEKN ERACIDFAIS AKPLTRHMPQ NKQSFQYRMW 
QFVVSPPFEY TIMAMIALNT IVLMMKFYGA SVAYENALRV FNIVFTSLFS LECVLKVMAF 
GILNYFRDAW NIFDFVTVLG SITDILVTEF GNPNNFINLS FLRLFRAARL IKLLRQGYTI 
RILLWTFVQS FKALPYVCLL IAMLFFIYAI IGMQVFGNIG IDVEDEDSDE DEFQITEHNN 
FRTFFQALML LFRSATGEAW HNIMLSCLSG KPCDKNSGIL TRECGNEFAY FYFVSFIFLC 
SFLMLNLFVA VIMDNFEYLT RDSSILGPHH LDEYVRVWAE YDPAAWGRMP YLDMYQMLRH 
MSPPLGLGKK CPARVAYKRL LRMDLPVADD NTVHFNSTLM ALIRTALDIK IAKGGADKQQ 
MDAELRKEMM AIWPNLSQKT LDLLVTPHKS TDLTVGKIYA AMMIMEYYRQ SKAKKLQAMR 
EEQDRTPLMF QRMEPPSPTQ EGGPGQNALP STQLDPGGAL MAHESGLKES PSWVTQRAQE 
MFQKTGTWSP EQGPPTDMPN SQPNSQSVEM REMGRDGYSD SEHYLPMEGQ GRAASMPRLP 
AENQRRRGRP RGNNLSTISD TSPMKRSASV LGPKARRLDD YSLERVPPEE NQRHHQRRRD 
RSHRASERSL GRYTDVDTGL GTDLSMTTQS GDLPSKERDQ ERGRPKDRKH RQHHHHHHHH 
HHPPPPDKDR YAQERPDHGR ARARDQRWSR SPSEGREHMA HRQ

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.