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

    Gene ID: 774, updated on 10-Dec-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
    mouse all
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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
    • 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
    		Compare labs

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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