Details for: CACNA2D1

Gene ID: 781

Symbol: CACNA2D1

Ensembl ID: ENSG00000153956

Description: calcium voltage-gated channel auxiliary subunit alpha2delta 1

Associated with

  • Calcium ion import across plasma membrane
    (GO:0098703)
  • Calcium ion transmembrane transport via high voltage-gated calcium channel
    (GO:0061577)
  • Calcium ion transport
    (GO:0006816)
  • Calcium ion transport into cytosol
    (GO:0060402)
  • Cardiac muscle cell action potential involved in contraction
    (GO:0086002)
  • Cellular response to amyloid-beta
    (GO:1904646)
  • Extracellular exosome
    (GO:0070062)
  • L-type voltage-gated calcium channel complex
    (GO:1990454)
  • Membrane depolarization during bundle of his cell action potential
    (GO:0086048)
  • Metal ion binding
    (GO:0046872)
  • Neuronal dense core vesicle
    (GO:0098992)
  • Plasma membrane
    (GO:0005886)
  • Positive regulation of high voltage-gated calcium channel activity
    (GO:1901843)
  • Regulation of calcium ion transmembrane transport via high voltage-gated calcium channel
    (GO:1902514)
  • Regulation of calcium ion transport
    (GO:0051924)
  • Regulation of heart rate by cardiac conduction
    (GO:0086091)
  • Regulation of membrane repolarization during action potential
    (GO:0098903)
  • Regulation of ventricular cardiac muscle cell membrane repolarization
    (GO:0060307)
  • Sarcoplasmic reticulum
    (GO:0016529)
  • Voltage-gated calcium channel activity
    (GO:0005245)
  • Voltage-gated calcium channel activity involved in bundle of his cell action potential
    (GO:0086057)
  • Voltage-gated calcium channel activity involved in cardiac muscle cell action potential
    (GO:0086007)
  • Voltage-gated calcium channel complex
    (GO:0005891)

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 10.48
    Marker Score: 35131
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 8.48
    Marker Score: 44486
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 8
    Marker Score: 42953
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 7.55
    Marker Score: 5682
  • Cell Name: granule cell (CL0000120)
    Fold Change: 6.89
    Marker Score: 51930
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 5.79
    Marker Score: 13302
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 5.51
    Marker Score: 13788
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 5.13
    Marker Score: 2464
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 5.04
    Marker Score: 89548
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 4.39
    Marker Score: 148158
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 4.17
    Marker Score: 93275
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 4.13
    Marker Score: 3140
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 3.96
    Marker Score: 2302
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 3.63
    Marker Score: 1877
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 3.52
    Marker Score: 2314
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 3.49
    Marker Score: 1891
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 3.31
    Marker Score: 1092
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 3.11
    Marker Score: 6833
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 3.06
    Marker Score: 4308
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 3.01
    Marker Score: 1686
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 2.89
    Marker Score: 8241.5
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 2.86
    Marker Score: 6841
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.79
    Marker Score: 41652
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 2.79
    Marker Score: 3206
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 2.72
    Marker Score: 4565
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 2.69
    Marker Score: 5183.5
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 2.61
    Marker Score: 9292.5
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 2.55
    Marker Score: 2201
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 2.46
    Marker Score: 3063
  • Cell Name: fat cell (CL0000136)
    Fold Change: 2.44
    Marker Score: 1362
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 2.31
    Marker Score: 968
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 2.29
    Marker Score: 1296
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 2.26
    Marker Score: 48236
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 2.23
    Marker Score: 2128
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 2.21
    Marker Score: 43993
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 2.2
    Marker Score: 2744
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 2.14
    Marker Score: 20176
  • Cell Name: ganglion interneuron (CL0000397)
    Fold Change: 2.12
    Marker Score: 644
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 2.12
    Marker Score: 670
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 2.08
    Marker Score: 15938
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.06
    Marker Score: 126962
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 1.99
    Marker Score: 1107
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 1.94
    Marker Score: 710
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 1.93
    Marker Score: 2390
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.92
    Marker Score: 18256
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.9
    Marker Score: 19662
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.86
    Marker Score: 16007
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 1.86
    Marker Score: 3392
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.84
    Marker Score: 7480
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 1.82
    Marker Score: 1403
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.8
    Marker Score: 491
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.69
    Marker Score: 651.5
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 1.69
    Marker Score: 7827
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 1.63
    Marker Score: 424
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.63
    Marker Score: 2513
  • Cell Name: bipolar neuron (CL0000103)
    Fold Change: 1.59
    Marker Score: 535
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.58
    Marker Score: 3220
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.58
    Marker Score: 1149
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 1.58
    Marker Score: 402
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 1.55
    Marker Score: 1023
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.52
    Marker Score: 1318
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.5
    Marker Score: 879
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 1.49
    Marker Score: 562
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.48
    Marker Score: 1795
  • Cell Name: motor neuron (CL0000100)
    Fold Change: 1.48
    Marker Score: 880
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.41
    Marker Score: 53447
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.4
    Marker Score: 3288
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.34
    Marker Score: 853
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.32
    Marker Score: 20733
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.32
    Marker Score: 791
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 1.29
    Marker Score: 1146
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 1.29
    Marker Score: 1552
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 1.28
    Marker Score: 338
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.26
    Marker Score: 4488
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 1.26
    Marker Score: 1418
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1.15
    Marker Score: 1240
  • Cell Name: podocyte (CL0000653)
    Fold Change: 1.13
    Marker Score: 417
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 1.11
    Marker Score: 349
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 1.08
    Marker Score: 525
  • Cell Name: oocyte (CL0000023)
    Fold Change: 1.06
    Marker Score: 263
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 1.02
    Marker Score: 372
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.02
    Marker Score: 506
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 1.02
    Marker Score: 6153
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.02
    Marker Score: 780
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1
    Marker Score: 917
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 1
    Marker Score: 596
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71740
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47963
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.99
    Marker Score: 671
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30400
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.98
    Marker Score: 1387
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.97
    Marker Score: 566
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.97
    Marker Score: 498
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.96
    Marker Score: 3719
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.96
    Marker Score: 452
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2408
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.93
    Marker Score: 449
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.93
    Marker Score: 427
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.92
    Marker Score: 5263
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.92
    Marker Score: 297

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Other Information

**Key characteristics:** * The CACNA2D1 gene is located on chromosome 17q21.1. * It is a member of the CACNA2 family of voltage-gated calcium channels. * The protein is a transmembrane protein with a molecular weight of approximately 140 kDa. * It is expressed in high levels in cardiac muscle cells. * It is a key regulator of cardiac muscle cell action potential and membrane repolarization. **Pathways and functions:** * The CACNA2D1 gene is involved in calcium ion import across the plasma membrane, calcium ion transmembrane transport via the high voltage-gated calcium channel, and calcium ion transport into the cytosol. * It is also involved in cardiac muscle cell action potential, membrane depolarization during bundle of his cell action potential, and regulation of cardiac rate by cardiac conduction. * The protein is also involved in the regulation of ventricular cardiac muscle cell membrane repolarization. **Clinical significance:** * Mutations in the CACNA2D1 gene have been linked to a number of human diseases, including cardiac arrhythmias, heart failure, and stroke. * Inhibition of the CACNA2D1 gene has been shown to improve cardiac function in animal models of heart failure. * Therefore, CACNA2D1 is a promising target for the treatment of cardiovascular diseases.

Genular Protein ID: 3494326383

Symbol: CA2D1_HUMAN

Name: Voltage-dependent calcium channel subunit alpha-2/delta-1

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 1309651

Title: Structure and functional expression of alpha 1, alpha 2, and beta subunits of a novel human neuronal calcium channel subtype.

PubMed ID: 1309651

DOI: 10.1016/0896-6273(92)90109-q

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: 8107964

Title: Human neuronal voltage-dependent calcium channels: studies on subunit structure and role in channel assembly.

PubMed ID: 8107964

DOI: 10.1016/0028-3908(93)90004-m

PubMed ID: 16335952

Title: Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.

PubMed ID: 16335952

DOI: 10.1021/pr0502065

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 22054663

Title: Identification of a disulfide bridge essential for structure and function of the voltage-gated Ca(2+) channel alpha(2)delta-1 auxiliary subunit.

PubMed ID: 22054663

DOI: 10.1016/j.ceca.2011.10.002

PubMed ID: 34234349

Title: Structure of human Cav2.2 channel blocked by the painkiller ziconotide.

PubMed ID: 34234349

DOI: 10.1038/s41586-021-03699-6

PubMed ID: 35293990

Title: Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy.

PubMed ID: 35293990

DOI: 10.1093/brain/awac081

Sequence Information:

  • Length: 1103
  • Mass: 124568
  • Checksum: 0749685DE9DB0700
  • Sequence:
  • MAAGCLLALT LTLFQSLLIG PSSEEPFPSA VTIKSWVDKM QEDLVTLAKT ASGVNQLVDI 
    YEKYQDLYTV EPNNARQLVE IAARDIEKLL SNRSKALVRL ALEAEKVQAA HQWREDFASN 
    EVVYYNAKDD LDPEKNDSEP GSQRIKPVFI EDANFGRQIS YQHAAVHIPT DIYEGSTIVL 
    NELNWTSALD EVFKKNREED PSLLWQVFGS ATGLARYYPA SPWVDNSRTP NKIDLYDVRR 
    RPWYIQGAAS PKDMLILVDV SGSVSGLTLK LIRTSVSEML ETLSDDDFVN VASFNSNAQD 
    VSCFQHLVQA NVRNKKVLKD AVNNITAKGI TDYKKGFSFA FEQLLNYNVS RANCNKIIML 
    FTDGGEERAQ EIFNKYNKDK KVRVFTFSVG QHNYDRGPIQ WMACENKGYY YEIPSIGAIR 
    INTQEYLDVL GRPMVLAGDK AKQVQWTNVY LDALELGLVI TGTLPVFNIT GQFENKTNLK 
    NQLILGVMGV DVSLEDIKRL TPRFTLCPNG YYFAIDPNGY VLLHPNLQPK PIGVGIPTIN 
    LRKRRPNIQN PKSQEPVTLD FLDAELENDI KVEIRNKMID GESGEKTFRT LVKSQDERYI 
    DKGNRTYTWT PVNGTDYSLA LVLPTYSFYY IKAKLEETIT QARYSETLKP DNFEESGYTF 
    IAPRDYCNDL KISDNNTEFL LNFNEFIDRK TPNNPSCNAD LINRVLLDAG FTNELVQNYW 
    SKQKNIKGVK ARFVVTDGGI TRVYPKEAGE NWQENPETYE DSFYKRSLDN DNYVFTAPYF 
    NKSGPGAYES GIMVSKAVEI YIQGKLLKPA VVGIKIDVNS WIENFTKTSI RDPCAGPVCD 
    CKRNSDVMDC VILDDGGFLL MANHDDYTNQ IGRFFGEIDP SLMRHLVNIS VYAFNKSYDY 
    QSVCEPGAAP KQGAGHRSAY VPSVADILQI GWWATAAAWS ILQQFLLSLT FPRLLEAVEM 
    EDDDFTASLS KQSCITEQTQ YFFDNDSKSF SGVLDCGNCS RIFHGEKLMN TNLIFIMVES 
    KGTCPCDTRL LIQAEQTSDG PNPCDMVKQP RYRKGPDVCF DNNVLEDYTD CGGVSGLNPS 
    LWYIIGIQFL LLWLVSGSTH RLL

Genular Protein ID: 1996319903

Symbol: E7ERK3_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

Sequence Information:

  • Length: 309
  • Mass: 34621
  • Checksum: 7A3D8ADCAA481D7C
  • Sequence:
  • MAAGCLLALT LTLFQSLLIG PSSEEPFPSA VTIKSWVDKM QEDLVTLAKT ASGVNQLVDI 
    YEKYQDLYTV EPNNARQLVE IAARDIEKLL SNRSKALVRL ALEAEKVQAA HQWREDFASN 
    EVVYYNAKDD LDPEKNDSEP GSQRIKPVFI EDANFGRQIS YQHAAVHIPT DIYEGSTIVL 
    NELNWTSALD EVFKKNREED PSLLWQVFGS ATGLARYYPA SPWVDNSRTP NKIDLYDVRR 
    RPWYIQGAAS PKDMLILVDV SGSVSGLTLK LIRTSVSEML ETLSDDDFVN VASDSKEISP 
    SPEEIFNAE

Genular Protein ID: 882760827

Symbol: Q9UIU0_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 10534405

Title: Genomic structure and functional expression of a human alpha(2)/delta calcium channel subunit gene (CACNA2).

PubMed ID: 10534405

DOI: 10.1006/geno.1999.5941

Sequence Information:

  • Length: 1110
  • Mass: 125308
  • Checksum: 8358DC6AD489C074
  • Sequence:
  • MAAGCLLALT LTLFQSLLIG PSSEEPFPSA VTIKSWVDKM QEDLVTLAKT ASGVNQLVDI 
    YEKYQDLYTV EPNNARQLVE IAARDIEKLL SNRSKALVRL ALEAEKVQAA HQWREDFASN 
    EVVYYNAKDD LDPEKNDSEP GSQRIKPVFI EDANFGRQIS YQHAAVHIPT DIYEGSTIVL 
    NELNWTSALD EVFKKNREED PSLLWQVFGS ATGLARYYPA SPWVDNSRTP NKIDLYDVRR 
    RPWYIQGAAS PKDMLILVDV SGSVSGLTLK LIRTSVSEML ETLSDDDFVN VASFNSNAQD 
    VSCFQHLVQA NVRNKKVLKD AVNNITAKGI TDYKKGFSFA FEQLLNYNVS RANCNKIIML 
    FTDGGEERAQ EIFNKYNKDK KVRVFTFSVG QHNYDRGPIQ WMACENKGYY YEIPSIGAIR 
    INTQEYLDVL GRPMVLAGDK AKQVQWTNVY LDALELGLVI TGTLPVFNIT GQFENKTNLK 
    NQLILGVMGV DVSLEDIKRL TPRFTLCPNG YYFAIDPNGY VLLHPNLQPK PIGVGIPTIN 
    LRKRRPNIQN PKSQEPVTLD FLDAELENDI KVEIRNKMID GESGEKTFRT LVKSQDERYI 
    DKGNRTYTWT PVNGTDYSLA LVLPTYSFYY IKAKLEETIT QARSKKGKMK DSETLKPDNF 
    EESGYTFIAP RDYCNDLKIS DNNTEFLLNF NEFIDRKTPN NPSCNADLIN RVLLDAGFTN 
    ELVQNYWSKQ KNIKGVKARF VVTDGGITRV YPKEAGENWQ ENPETYEDSF YKRSLDNDNY 
    VFTAPYFNKS GPGAYESGIM VSKAVEIYIQ GKLLKPAVVG IKIDVNSWIE NFTKTSIRDP 
    CAGPVCDCKR NSDVMDCVIL DDGGFLLMAN HDDYTNQIGR FFGEIDPSLM RHLVNISVYA 
    FNKSYDYQSV CEPGAAPKQG AGHRSAYVPS VADILQIGWW ATAAAWSILQ QFLLSLTFPR 
    LLEAVEMEDD DFTASLSKQS CITEQTQYFF DNDSKSFSGV LDCGNCSRIF HGEKLMNTNL 
    IFIMVESKGT CPCDTRLLIQ AEQTSDGPNP CDMVKQPRYR KGPDVCFDNN VLEDYTDCGG 
    VSGLNPSLWY IIGIQFLLLW LVSGSTHRLL

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. For the full schema, download it here.