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CACNA1B calcium voltage-gated channel subunit alpha1 B [ Homo sapiens (human) ]

Gene ID: 774, updated on 2-Nov-2024

Summary

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Official Symbol
CACNA1Bprovided by HGNC
Official Full Name
calcium voltage-gated channel subunit alpha1 Bprovided by HGNC
Primary source
HGNC:HGNC:1389
See related
Ensembl:ENSG00000148408 MIM:601012; AllianceGenome:HGNC:1389
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BIII; CACNN; DYT23; Cav2.2; NEDNEH; CACNL1A5
Summary
The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-voltage activated channel. This channel is sensitive to omega-conotoxin-GVIA and omega-agatoxin-IIIA but insensitive to dihydropyridines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
Expression
Biased expression in brain (RPKM 4.9), testis (RPKM 2.2) and 1 other tissue See more
Orthologs
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Genomic context

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See CACNA1B in Genome Data Viewer
Location:
9q34.3
Exon count:
47
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (137877782..138124619)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (150142926..150389904)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (140772234..141019071)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene euchromatic histone lysine methyltransferase 1 Neighboring gene forkhead box H1 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140682311-140682830 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140682831-140683350 Neighboring gene uncharacterized LOC651337 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29370 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29371 Neighboring gene 9q34.3 EHMT1 distal recombination region Neighboring gene uncharacterized LOC100133077 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:140767993-140769192 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140772427-140773342 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140775611-140776112 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140780067-140780657 Neighboring gene microRNA 602 Neighboring gene uncharacterized LOC124902320 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140786514-140787014 Neighboring gene CACNA1B antisense RNA 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:140884423-140885622 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140901003-140901639 Neighboring gene 9q34.3 CACNA1B recombination region Neighboring gene uncharacterized LOC101928786 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140968134-140969031 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:140991711-140992212 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140995762-140996262 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140999073-140999830 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:141038812-141038998 Neighboring gene IL9R pseudogene 1 Neighboring gene tubulin beta pseudogene 5

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. A direct repeat of N-type Ca2+ channel alpha1B gene functions as a negative regulatory element in HeLa cells. Park SY, et al. Mol Cells, 2002 Apr 30. PMID 12018859
  2. Alternative Splicing in Ca(V)2.2 Regulates Neuronal Trafficking via Adaptor Protein Complex-1 Adaptor Protein Motifs. Macabuag N, et al. J Neurosci, 2015 Oct 28. PMID 26511252, Free PMC Article
  3. The first disease connection for Cav2.2 channels. Weiss N. Gen Physiol Biophys, 2015 Jul. PMID 26218636
  4. The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort. Mencacci NE, et al. Hum Mol Genet, 2015 Sep 15. PMID 26157024, Free PMC Article
  5. CACNA1B mutation is linked to unique myoclonus-dystonia syndrome. Groen JL, et al. Hum Mol Genet, 2015 Feb 15. PMID 25296916, Free PMC Article

See all (67) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. An orally available Cav2.2 calcium channel inhibitor for the treatment of neuropathic pain.
    Title: An orally available Ca(v)2.2 calcium channel inhibitor for the treatment of neuropathic pain.
  2. Cav2.2-NFAT2-USP43 axis promotes invadopodia formation and breast cancer metastasis through cortactin stabilization.
    Title: Ca(v)2.2-NFAT2-USP43 axis promotes invadopodia formation and breast cancer metastasis through cortactin stabilization.
  3. High expression of N-type calcium channel indicates a favorable prognosis in gliomas.
    Title: High expression of N-type calcium channel indicates a favorable prognosis in gliomas.
  4. Closed-state inactivation and pore-blocker modulation mechanisms of human CaV2.2.
    Title: Closed-state inactivation and pore-blocker modulation mechanisms of human Ca(V)2.2.
  5. CACNA1B facilitates breast cancer cell growth and migration by regulating cyclin D1 and EMT: the implication of CACNA1B in breast cancer.
    Title: CACNA1B facilitates breast cancer cell growth and migration by regulating cyclin D1 and EMT: the implication of CACNA1B in breast cancer.
  6. CaV2.2 (N-type) voltage-gated calcium channels are activated by SUMOylation pathways.
    Title: Ca(V)2.2 (N-type) voltage-gated calcium channels are activated by SUMOylation pathways.
  7. Structure of human Cav2.2 channel blocked by the painkiller ziconotide.
    Title: Structure of human Ca(v)2.2 channel blocked by the painkiller ziconotide.
  8. CACNA1B gene variants in adult-onset isolated focal dystonia.
    Title: CACNA1B gene variants in adult-onset isolated focal dystonia.
  9. Bi-allelic Loss-of-Function CACNA1B Mutations are associated with Progressive Epilepsy-Dyskinesia.
    Title: Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
  10. Cav2.2 alpha1 subunit alone could form a complex with the AMPAR in heterologous cells. The cell-surface AMPAR was increased by co-expression of Cav2.2 alpha1 subunit.
    Title: Neuronal calcium channel α(1) subunit interacts with AMPA receptor, increasing its cell surface localisation.
Submit: New GeneRIF Correction See all GeneRIFs (32)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
MedGen: C5193128 OMIM: 618497 GeneReviews: Not available
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables amyloid-beta binding IC
Inferred by Curator
more info
 PubMed 
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
  
enables high voltage-gated calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables high voltage-gated calcium channel activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables voltage-gated calcium channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables voltage-gated calcium channel activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
involved_in calcium ion import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in modulation of chemical synaptic transmission IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in response to amyloid-beta IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in neuronal cell body IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in synapse IEA
Inferred from Electronic Annotation
more info
  
part_of voltage-gated calcium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
voltage-dependent N-type calcium channel subunit alpha-1B
Names
Cav2.2 voltage-gated Ca2+ channel
brain calcium channel III
calcium channel alpha12.2 subunit
calcium channel, L type, alpha-1 polypeptide
calcium channel, voltage-dependent, L type, alpha 1B subunit
calcium channel, voltage-dependent, N type, alpha 1B subunit
voltage-gated calcium channel alpha subunit Cav2.2
voltage-gated calcium channel subunit alpha Cav2.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_042271.1 RefSeqGene

    Range
    4994..251831
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000718.4 → NP_000709.1  voltage-dependent N-type calcium channel subunit alpha-1B isoform 1

    See identical proteins and their annotated locations for NP_000709.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL591424, AL772363, BC033060, M94172
    Consensus CDS
    CCDS59522.1
    UniProtKB/Swiss-Prot
    B1AQK5, Q00975
    UniProtKB/TrEMBL
    B1AQK6
    Related
    ENSP00000360423.1, ENST00000371372.6
    Conserved Domains (5) summary
    PHA03307
    Location:1942 → 2338
    PHA03307; transcriptional regulator ICP4; Provisional
    PRK12678
    Location:831 → 988
    PRK12678; transcription termination factor Rho; Provisional
    pfam00520
    Location:1470 → 1719
    Ion_trans; Ion transport protein
    pfam08763
    Location:1793 → 1867
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16905
    Location:1728 → 1781
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

  2. NM_001243812.2 → NP_001230741.1  voltage-dependent N-type calcium channel subunit alpha-1B isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AL591424, AL772363, BC033060, M94173
    Consensus CDS
    CCDS59523.1
    UniProtKB/TrEMBL
    B1AQK6
    Related
    ENSP00000277551.2, ENST00000277551.6
    Conserved Domains (4) summary
    pfam00520
    Location:1488 → 1719
    Ion_trans; Ion transport protein
    pfam08763
    Location:1793 → 1867
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam12300
    Location:822 → 929
    DUF3628; Protein of unknown function (DUF3628)
    pfam16905
    Location:1727 → 1791
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    137877782..138124619
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    150142926..150389904
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q00975.1 GenPept UniProtKB/Swiss-Prot:Q00975

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