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)

Other Information

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. 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.