Details for: CACNA2D2

Gene ID: 9254

Symbol: CACNA2D2

Ensembl ID: ENSG00000007402

Description: calcium voltage-gated channel auxiliary subunit alpha2delta 2

Associated with

Cells (max top 100)

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

  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 3.23
    Marker Score: 6,685
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 2.28
    Marker Score: 14,841
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 2.16
    Marker Score: 4,100
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.9
    Marker Score: 70,029
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.66
    Marker Score: 32,992
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.62
    Marker Score: 16,730
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.58
    Marker Score: 6,444
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 1.58
    Marker Score: 2,532
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.56
    Marker Score: 24,996
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.38
    Marker Score: 2,132
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 1.34
    Marker Score: 601
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.34
    Marker Score: 2,724
  • Cell Name: type I pneumocyte (CL0002062)
    Fold Change: 1.27
    Marker Score: 1,531
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.23
    Marker Score: 738
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.16
    Marker Score: 18,145
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.14
    Marker Score: 439
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.08
    Marker Score: 686
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.07
    Marker Score: 9,189
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.04
    Marker Score: 793
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,819
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48,043
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,407
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 505
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 459
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.96
    Marker Score: 1,957
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2,412
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.95
    Marker Score: 1,190
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.92
    Marker Score: 5,237
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2,737
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.91
    Marker Score: 835
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 0.9
    Marker Score: 464
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 322
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.89
    Marker Score: 426
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.88
    Marker Score: 2,083
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.88
    Marker Score: 356
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,285
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.87
    Marker Score: 280
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.84
    Marker Score: 3,476
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.83
    Marker Score: 3,823
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.82
    Marker Score: 31,330
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.78
    Marker Score: 3,272
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1,260
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.78
    Marker Score: 3,252
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.77
    Marker Score: 223
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 394
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.76
    Marker Score: 11,363
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.76
    Marker Score: 2,926
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.76
    Marker Score: 303
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.75
    Marker Score: 688
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.75
    Marker Score: 218
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.74
    Marker Score: 45,726
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 0.71
    Marker Score: 2,978
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.71
    Marker Score: 6,642
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.69
    Marker Score: 291
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 177
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.66
    Marker Score: 5,073
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.65
    Marker Score: 635
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.64
    Marker Score: 6,091
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.64
    Marker Score: 420
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.62
    Marker Score: 884
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.59
    Marker Score: 185
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 0.59
    Marker Score: 3,095
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.58
    Marker Score: 371
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.56
    Marker Score: 794
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 442
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.51
    Marker Score: 225
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 0.5
    Marker Score: 2,661
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.49
    Marker Score: 272
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.47
    Marker Score: 15,933
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.46
    Marker Score: 170
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 0.45
    Marker Score: 264
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.45
    Marker Score: 444
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.43
    Marker Score: 111
  • Cell Name: PP cell (CL0000696)
    Fold Change: 0.43
    Marker Score: 96
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 0.41
    Marker Score: 212
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.4
    Marker Score: 98
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.4
    Marker Score: 444
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.38
    Marker Score: 157
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 0.38
    Marker Score: 111
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.38
    Marker Score: 103
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.37
    Marker Score: 98
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 0.37
    Marker Score: 176
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.36
    Marker Score: 113
  • Cell Name: CD8-positive, alpha-beta cytotoxic T cell (CL0000794)
    Fold Change: 0.36
    Marker Score: 313
  • Cell Name: paneth cell (CL0000510)
    Fold Change: 0.35
    Marker Score: 244
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.35
    Marker Score: 151
  • Cell Name: CD16-positive, CD56-dim natural killer cell, human (CL0000939)
    Fold Change: 0.34
    Marker Score: 260
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.33
    Marker Score: 220
  • Cell Name: type G enteroendocrine cell (CL0000508)
    Fold Change: 0.32
    Marker Score: 111
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.32
    Marker Score: 1,340
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.31
    Marker Score: 156
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.3
    Marker Score: 368
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.3
    Marker Score: 139
  • Cell Name: monocyte (CL0000576)
    Fold Change: 0.3
    Marker Score: 393
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.3
    Marker Score: 301
  • Cell Name: natural killer cell (CL0000623)
    Fold Change: 0.3
    Marker Score: 386
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.29
    Marker Score: 122
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.29
    Marker Score: 1,031
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 0.27
    Marker Score: 91
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.27
    Marker Score: 994

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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:** 1. **Location and Structure:** The CACNA2D2 gene is located on chromosome 1q21-q22 and encodes for a 214 amino acid protein, which is a part of the voltage-gated calcium channel complex. 2. **Function:** The alpha2delta 2 subunit is an auxiliary subunit that modulates the function of voltage-gated calcium channels, influencing their biophysical properties and regulation. 3. **Cellular Expression:** CACNA2D2 is widely expressed in various cell types, including kidney proximal convoluted tubule epithelial cells, type II pneumocytes, cardiac endothelial cells, and neurons. 4. **Regulation:** The alpha2delta 2 subunit is regulated by various factors, including calcium, voltage, and neurotransmitters, which modulate its interaction with voltage-gated calcium channels. **Pathways and Functions:** The CACNA2D2 gene is involved in several cellular pathways, including: 1. **Calcium Ion Transmembrane Transport:** The alpha2delta 2 subunit modulates the biophysical properties of voltage-gated calcium channels, influencing calcium ion influx and efflux. 2. **Cardiac Conduction:** CACNA2D2 plays a crucial role in regulating cardiac conduction, particularly in the sinoatrial node, where it modulates the depolarization phase. 3. **Insulin Secretion:** The alpha2delta 2 subunit is involved in regulating insulin secretion from pancreatic beta cells, where it modulates the biophysical properties of voltage-gated calcium channels. 4. **Neuronal System:** CACNA2D2 is expressed in various neuronal cell types, where it modulates neurotransmitter release and synaptic transmission. 5. **Muscle Contraction:** The alpha2delta 2 subunit is involved in regulating muscle contraction, particularly in skeletal muscle, where it modulates the biophysical properties of voltage-gated calcium channels. **Clinical Significance:** Dysregulation of CACNA2D2 has been implicated in various diseases, including: 1. **Insulin Secretion Disorders:** Mutations in CACNA2D2 have been associated with diabetes mellitus type 2 and other insulin secretion disorders. 2. **Cardiac Arrhythmias:** Altered expression of CACNA2D2 has been linked to cardiac arrhythmias, including atrial fibrillation and ventricular tachycardia. 3. **Neurological Disorders:** CACNA2D2 has been implicated in various neurological disorders, including epilepsy, Parkinson's disease, and schizophrenia. 4. **Muscular Disorders:** Mutations in CACNA2D2 have been associated with muscular dystrophy and other muscle contraction disorders. In conclusion, the CACNA2D2 gene plays a critical role in regulating various cellular processes, including calcium ion transmembrane transport, cardiac conduction, insulin secretion, and neuronal system function. Dysregulation of this gene has been implicated in various diseases, highlighting the importance of its study and potential therapeutic applications.

Genular Protein ID: 3315068318

Symbol: CA2D2_HUMAN

Name: Voltage-dependent calcium channel subunit alpha-2/delta-2

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 9880589

Title: Molecular diversity of the calcium channel alpha2delta subunit.

PubMed ID: 9880589

DOI: 10.1523/jneurosci.19-02-00684.1999

PubMed ID: 10766861

Title: Functional properties of a new voltage-dependent calcium channel alpha(2)delta auxiliary subunit gene (CACNA2D2).

PubMed ID: 10766861

DOI: 10.1074/jbc.275.16.12237

PubMed ID: 10762351

Title: Neuronal distribution and functional characterization of the calcium channel alpha2delta-2 subunit.

PubMed ID: 10762351

DOI: 10.1046/j.1460-9568.2000.01009.x

PubMed ID: 9628581

Title: Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.

PubMed ID: 9628581

DOI: 10.1093/dnares/5.1.31

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11687876

Title: Tissue-specific expression and gabapentin-binding properties of calcium channel alpha2delta subunit subtypes.

PubMed ID: 11687876

DOI: 10.1007/s00232-001-0072-7

PubMed ID: 15000524

Title: Calcium channel alpha2delta subunits: differential expression, function, and drug binding.

PubMed ID: 15000524

DOI: 10.1023/b:jobb.0000008028.41056.58

PubMed ID: 12555074

Title: CACNA2D2-mediated apoptosis in NSCLC cells is associated with alterations of the intracellular calcium signaling and disruption of mitochondria membrane integrity.

PubMed ID: 12555074

DOI: 10.1038/sj.onc.1206134

PubMed ID: 15111129

Title: Modulation of gating currents of the Ca(v)3.1 calcium channel by alpha 2 delta 2 and gamma 5 subunits.

PubMed ID: 15111129

DOI: 10.1016/j.abb.2004.03.010

PubMed ID: 19349973

Title: Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins.

PubMed ID: 19349973

DOI: 10.1038/nbt.1532

PubMed ID: 23339110

Title: Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy.

PubMed ID: 23339110

DOI: 10.1136/jmedgenet-2012-101223

PubMed ID: 24358150

Title: A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.

PubMed ID: 24358150

DOI: 10.1371/journal.pone.0082154

PubMed ID: 30410802

Title: Epileptic encephalopathy and cerebellar atrophy resulting from compound heterozygous CACNA2D2 variants.

PubMed ID: 30410802

DOI: 10.1155/2018/6308283

PubMed ID: 29997391

Title: Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.

PubMed ID: 29997391

DOI: 10.1038/s41436-018-0089-2

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

Sequence Information:

  • Length: 1150
  • Mass: 129817
  • Checksum: 502B86A5E6279AA0
  • Sequence:
  • MAVPARTCGA SRPGPARTAR PWPGCGPHPG PGTRRPTSGP PRPLWLLLPL LPLLAAPGAS 
    AYSFPQQHTM QHWARRLEQE VDGVMRIFGG VQQLREIYKD NRNLFEVQEN EPQKLVEKVA 
    GDIESLLDRK VQALKRLADA AENFQKAHRW QDNIKEEDIV YYDAKADAEL DDPESEDVER 
    GSKASTLRLD FIEDPNFKNK VNYSYAAVQI PTDIYKGSTV ILNELNWTEA LENVFMENRR 
    QDPTLLWQVF GSATGVTRYY PATPWRAPKK IDLYDVRRRP WYIQGASSPK DMVIIVDVSG 
    SVSGLTLKLM KTSVCEMLDT LSDDDYVNVA SFNEKAQPVS CFTHLVQANV RNKKVFKEAV 
    QGMVAKGTTG YKAGFEYAFD QLQNSNITRA NCNKMIMMFT DGGEDRVQDV FEKYNWPNRT 
    VRVFTFSVGQ HNYDVTPLQW MACANKGYYF EIPSIGAIRI NTQEYLDVLG RPMVLAGKEA 
    KQVQWTNVYE DALGLGLVVT GTLPVFNLTQ DGPGEKKNQL ILGVMGIDVA LNDIKRLTPN 
    YTLGANGYVF AIDLNGYVLL HPNLKPQTTN FREPVTLDFL DAELEDENKE EIRRSMIDGN 
    KGHKQIRTLV KSLDERYIDE VTRNYTWVPI RSTNYSLGLV LPPYSTFYLQ ANLSDQILQV 
    KLPISKLKDF EFLLPSSFES EGHVFIAPRE YCKDLNASDN NTEFLKNFIE LMEKVTPDSK 
    QCNNFLLHNL ILDTGITQQL VERVWRDQDL NTYSLLAVFA ATDGGITRVF PNKAAEDWTE 
    NPEPFNASFY RRSLDNHGYV FKPPHQDALL RPLELENDTV GILVSTAVEL SLGRRTLRPA 
    VVGVKLDLEA WAEKFKVLAS NRTHQDQPQK CGPNSHCEMD CEVNNEDLLC VLIDDGGFLV 
    LSNQNHQWDQ VGRFFSEVDA NLMLALYNNS FYTRKESYDY QAACAPQPPG NLGAAPRGVF 
    VPTVADFLNL AWWTSAAAWS LFQQLLYGLI YHSWFQADPA EAEGSPETRE SSCVMKQTQY 
    YFGSVNASYN AIIDCGNCSR LFHAQRLTNT NLLFVVAEKP LCSQCEAGRL LQKETHSDGP 
    EQCELVQRPR YRRGPHICFD YNATEDTSDC GRGASFPPSL GVLVSLQLLL LLGLPPRPQP 
    QVLVHASRRL

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.