Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CACNA1B Gene

Aliases for CACNA1B Gene

  • Calcium Channel, Voltage-Dependent, N Type, Alpha 1B Subunit 2 3
  • Voltage-Gated Calcium Channel Subunit Alpha Cav2.2 3 4
  • Brain Calcium Channel III 3 4
  • CACNL1A5 3 4
  • BIII 3 4
  • Calcium Channel, Voltage-Dependent, L Type, Alpha 1B Subunit 3
  • Calcium Channel, L Type, Alpha-1 Polypeptide Isoform 5 4
  • Voltage-Gated Calcium Channel Alpha Subunit Cav2.2 3
  • Calcium Channel, L Type, Alpha-1 Polypeptide 3
  • Cav2.2 Voltage-Gated Ca2+ Channel 3
  • Calcium Channel Alpha12.2 Subunit 3
  • Cav2.2 3
  • CACNN 3
  • DYT23 3
  • CACH5 4

External Ids for CACNA1B Gene

Previous HGNC Symbols for CACNA1B Gene

  • CACNL1A5

Previous GeneCards Identifiers for CACNA1B Gene

  • GC09M132202
  • GC09P132561
  • GC09P134074
  • GC09P135990
  • GC09P138048
  • GC09P139892
  • GC09P140772
  • GC09P110240

Summaries for CACNA1B Gene

Entrez Gene Summary for CACNA1B Gene

  • 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]

GeneCards Summary for CACNA1B Gene

CACNA1B (Calcium Channel, Voltage-Dependent, N Type, Alpha 1B Subunit) is a Protein Coding gene. Diseases associated with CACNA1B include adult-onset cervical dystonia, dyt23 type and dystonia 23. Among its related pathways are MAPK signaling pathway and Apoptotic Pathways in Synovial Fibroblasts. GO annotations related to this gene include calcium ion binding and ion channel activity. An important paralog of this gene is CACNA1A.

UniProtKB/Swiss-Prot for CACNA1B Gene

  • Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1B gives rise to N-type calcium currents. N-type calcium channels belong to the high-voltage activated (HVA) group and are blocked by omega-conotoxin-GVIA (omega-CTx-GVIA) and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to dihydropyridines (DHP), and omega-agatoxin-IVA (omega-Aga-IVA). Calcium channels containing alpha-1B subunit may play a role in directed migration of immature neurons

Tocris Summary for CACNA1B Gene

  • Voltage-gated calcium channels (CaV) are present in the membrane of most excitable cells and mediate calcium influx in response to depolarization. They regulate intracellular processes such as contraction, secretion, neurotransmission and gene expression.

Gene Wiki entry for CACNA1B Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CACNA1B Gene

Genomics for CACNA1B Gene

Regulatory Elements for CACNA1B Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CACNA1B Gene

Chromosome:
9
Start:
137,877,789 bp from pter
End:
138,124,624 bp from pter
Size:
246,836 bases
Orientation:
Plus strand

Genomic View for CACNA1B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CACNA1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CACNA1B Gene

Proteins for CACNA1B Gene

  • Protein details for CACNA1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q00975-CAC1B_HUMAN
    Recommended name:
    Voltage-dependent N-type calcium channel subunit alpha-1B
    Protein Accession:
    Q00975
    Secondary Accessions:
    • B1AQK5

    Protein attributes for CACNA1B Gene

    Size:
    2339 amino acids
    Molecular mass:
    262496 Da
    Quaternary structure:
    • Multisubunit complex consisting of alpha-1, alpha-2, beta and delta subunits in a 1:1:1:1 ratio. The channel activity is directed by the pore-forming and voltage-sensitive alpha-1 subunit. In many cases, this subunit is sufficient to generate voltage-sensitive calcium channel activity. The auxiliary subunits beta and alpha-2/delta linked by a disulfide bridge regulate the channel activity. Interacts with RIMS1 and RIMBP2 (By similarity).

    Three dimensional structures from OCA and Proteopedia for CACNA1B Gene

    Alternative splice isoforms for CACNA1B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CACNA1B Gene

Proteomics data for CACNA1B Gene at MOPED

Post-translational modifications for CACNA1B Gene

  • Phosphorylated in vitro by CaM-kinase II, PKA, PKC and CGPK.
  • Glycosylation at Asn 256, Asn 1563, and Asn 1675
  • Modification sites at PhosphoSitePlus

Other Protein References for CACNA1B Gene

No data available for DME Specific Peptides for CACNA1B Gene

Domains & Families for CACNA1B Gene

Graphical View of Domain Structure for InterPro Entry

Q00975

UniProtKB/Swiss-Prot:

CAC1B_HUMAN :
  • Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position
  • Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1B subfamily.
Domain:
  • Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position
  • Contains 1 EF-hand domain.
Family:
  • Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1B subfamily.
genes like me logo Genes that share domains with CACNA1B: view

Function for CACNA1B Gene

Molecular function for CACNA1B Gene

GENATLAS Biochemistry:
omega conotoxin sensitive,calcium channel,N type,alpha 1B subunit,exclusively expressed in neuronal tissue
UniProtKB/Swiss-Prot Function:
Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1B gives rise to N-type calcium currents. N-type calcium channels belong to the high-voltage activated (HVA) group and are blocked by omega-conotoxin-GVIA (omega-CTx-GVIA) and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to dihydropyridines (DHP), and omega-agatoxin-IVA (omega-Aga-IVA). Calcium channels containing alpha-1B subunit may play a role in directed migration of immature neurons

Gene Ontology (GO) - Molecular Function for CACNA1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity --
GO:0005245 voltage-gated calcium channel activity TAS 1321501
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 11438518
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with CACNA1B: view
genes like me logo Genes that share phenotypes with CACNA1B: view

Animal Models for CACNA1B Gene

MGI Knock Outs for CACNA1B:

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CACNA1B

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CACNA1B Gene

Localization for CACNA1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for CACNA1B Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CACNA1B Gene COMPARTMENTS Subcellular localization image for CACNA1B gene
Compartment Confidence
plasma membrane 4
cytosol 1
extracellular 1

Gene Ontology (GO) - Cellular Components for CACNA1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005891 voltage-gated calcium channel complex IEA --
GO:0016020 membrane --
GO:0030425 dendrite IEA --
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with CACNA1B: view

Pathways & Interactions for CACNA1B Gene

genes like me logo Genes that share pathways with CACNA1B: view

PCR Array Products

SIGNOR curated interactions for CACNA1B Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for CACNA1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 1321501
GO:0006811 ion transport --
GO:0006816 calcium ion transport IBA --
GO:0007268 synaptic transmission TAS --
GO:0007269 neurotransmitter secretion IEA --
genes like me logo Genes that share ontologies with CACNA1B: view

Drugs & Compounds for CACNA1B Gene

(76) Drugs for CACNA1B Gene - From: NovoSeek, DGIdb, IUPHAR, ApexBio, DrugBank, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Amlodipine Approved Pharma blocker, Target, inhibitor Calcium channel blocker 431
Gabapentin Approved, Investigational Pharma antagonist, Target, inhibitor GABA enhancer 254
Levetiracetam Approved, Investigational Pharma blocker, Target, inhibitor Antiepileptic; binds SV2A 0
Nitrendipine Approved Pharma Inhibition, Pore Blocker Calcium channel blocker 5
Verapamil Approved Pharma Inhibition, Inhibitor, Target, inhibitor 112

(23) Additional Compounds for CACNA1B Gene - From: NovoSeek, IUPHAR, Tocris, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
omega-conotoxin GVIA
Channel blocker
omega-conotoxin MVIIA
Antagonist, Pore Blocker
omega-conotoxin MVIIC
Channel blocker
O-Desmethylverapamil (D-702)
(+-)-Bay K 8644
71145-03-4
genes like me logo Genes that share compounds with CACNA1B: view

Drug Products

Transcripts for CACNA1B Gene

Unigene Clusters for CACNA1B Gene

Calcium channel, voltage-dependent, N type, alpha 1B subunit:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CACNA1B

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CACNA1B Gene

No ASD Table

Relevant External Links for CACNA1B Gene

GeneLoc Exon Structure for
CACNA1B
ECgene alternative splicing isoforms for
CACNA1B

Expression for CACNA1B Gene

mRNA expression in normal human tissues for CACNA1B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CACNA1B Gene

This gene is overexpressed in Brain - Cerebellum (x6.9), Brain - Cerebellar Hemisphere (x6.4), Brain - Cortex (x5.4), Brain - Frontal Cortex (BA9) (x4.6), and Brain - Anterior cingulate cortex (BA24) (x4.0).

Protein differential expression in normal tissues from HIPED for CACNA1B Gene

This gene is overexpressed in Heart (25.5), Breast (20.6), and Pancreatic juice (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CACNA1B Gene



SOURCE GeneReport for Unigene cluster for CACNA1B Gene Hs.495522

mRNA Expression by UniProt/SwissProt for CACNA1B Gene

Q00975-CAC1B_HUMAN
Tissue specificity: Isoform Alpha-1b-1 and isoform Alpha-1b-2 are expressed in the central nervous system, but not in skeletal muscle or aorta
genes like me logo Genes that share expression patterns with CACNA1B: view

Protein tissue co-expression partners for CACNA1B Gene

Primer Products

In Situ Assay Products

Orthologs for CACNA1B Gene

This gene was present in the common ancestor of animals.

Orthologs for CACNA1B Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CACNA1B 35
  • 89.65 (n)
  • 93.54 (a)
CACNA1B 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CACNA1B 35
  • 90.21 (n)
  • 94.3 (a)
CACNA1B 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cacna1b 35
  • 86.88 (n)
  • 92.96 (a)
Cacna1b 16
Cacna1b 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CACNA1B 35
  • 99.17 (n)
  • 99.26 (a)
CACNA1B 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cacna1b 35
  • 86.72 (n)
  • 92.8 (a)
oppossum
(Monodelphis domestica)
Mammalia CACNA1B 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CACNA1B 36
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves CACNA1B 35
  • 76.35 (n)
  • 82.04 (a)
CACNA1B 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CACNA1B 36
  • 27 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii cacna1ba 35
  • 69.06 (n)
  • 71.51 (a)
cacna1ba 36
  • 68 (a)
OneToMany
cacna1bb 36
  • 66 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11382 35
fruit fly
(Drosophila melanogaster)
Insecta cac 37
  • 62 (a)
cac 35
  • 62.23 (n)
  • 64.3 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002578 35
  • 64.54 (n)
  • 65.9 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-2 35
  • 58.81 (n)
  • 60.6 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 52 (a)
OneToMany
Species with no ortholog for CACNA1B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CACNA1B Gene

ENSEMBL:
Gene Tree for CACNA1B (if available)
TreeFam:
Gene Tree for CACNA1B (if available)

Paralogs for CACNA1B Gene

Paralogs for CACNA1B Gene

genes like me logo Genes that share paralogs with CACNA1B: view

Variants for CACNA1B Gene

Sequence variations from dbSNP and Humsavar for CACNA1B Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs766373 -- 138,111,320(+) GTAAA(A/G)GGAAA intron-variant
rs766374 -- 138,111,562(+) CGGTG(C/G)TGCTA intron-variant
rs766375 -- 138,111,368(+) ACATG(C/T)ACCAC intron-variant
rs936248 -- 138,021,915(-) AGGCC(C/T)GCCCT intron-variant
rs936249 -- 138,076,863(+) TTTGC(C/G/T)GAGCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CACNA1B Gene

Variant ID Type Subtype PubMed ID
nsv894678 CNV Loss 21882294
nsv509338 CNV Insertion 20534489
esv2137371 CNV Deletion 18987734
dgv48e194 CNV Deletion 18987734
esv4238 CNV Deletion 18987735
nsv415473 CNV Loss 16902084
dgv121e19 CNV Loss 19470904
nsv512132 CNV Loss 21212237
esv2666889 CNV Deletion 23128226
nsv415556 CNV Loss 16902084
nsv819257 CNV Gain 19587683
nsv512133 CNV Loss 21212237
esv26628 CNV Gain 19812545
nsv894680 CNV Gain 21882294
nsv416156 CNV Loss 16902084
nsv415991 CNV Loss 16902084
esv1575931 CNV Insertion 17803354
nsv894681 CNV Loss 21882294
nsv415961 CNV Loss 16902084
esv2433439 CNV Insertion 19546169
esv2562307 CNV Deletion 19546169
esv2219909 CNV Deletion 18987734
nsv466691 CNV Gain 19166990
nsv469920 CNV Gain 18288195
nsv894682 CNV Gain 21882294
nsv831764 CNV Loss 17160897
dgv2429e1 CNV Complex 17122850
esv2375692 CNV Deletion 18987734
esv2667721 CNV Deletion 23128226
nsv8587 CNV Gain+Loss 18304495
esv2626823 CNV Deletion 19546169
esv24429 CNV Gain+Loss 19812545
nsv821456 CNV Deletion 20802225
nsv433507 CNV Loss 18776910
esv1367927 CNV Deletion 17803354
nsv894683 CNV Gain 21882294
nsv825201 CNV Gain 20364138
nsv482947 CNV Loss 15286789
nsv6777 CNV Loss 18451855
nsv438117 CNV Loss 16468122
esv29520 CNV Loss 19812545
nsv499630 CNV Loss 21111241
esv2673994 CNV Deletion 23128226
esv27764 CNV Gain+Loss 19812545
nsv517336 CNV Gain+Loss 19592680
dgv8464n71 CNV Gain 21882294
nsv894686 CNV Gain 21882294
dgv8465n71 CNV Gain 21882294
dgv2430e1 CNV Complex 17122850
nsv438118 CNV Loss 16468122
nsv466692 CNV Gain 19166990
nsv8588 CNV Gain 18304495
nsv8589 CNV Loss 18304495

Variation tolerance for CACNA1B Gene

Residual Variation Intolerance Score: .79% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.27; 98.12% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CACNA1B Gene

HapMap Linkage Disequilibrium report
CACNA1B
Human Gene Mutation Database (HGMD)
CACNA1B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CACNA1B Gene

Disorders for CACNA1B Gene

MalaCards: The human disease database

(13) MalaCards diseases for CACNA1B Gene - From: OMIM, ClinVar, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

- elite association

UniProtKB/Swiss-Prot

CAC1B_HUMAN
  • Dystonia 23 (DYT23) [MIM:614860]: A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT23 is an autosomal dominant dystonia affecting the face, neck, limbs. Some DYT23 patients manifest generalized myoclonus in addition to progressive action-induced multifocal dystonia. {ECO:0000269 PubMed:25296916}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CACNA1B

Genetic Association Database (GAD)
CACNA1B
Human Genome Epidemiology (HuGE) Navigator
CACNA1B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CACNA1B
genes like me logo Genes that share disorders with CACNA1B: view

No data available for Genatlas for CACNA1B Gene

Publications for CACNA1B Gene

  1. Evaluation of the inhibitory effect of dihydropyridines on N-type calcium channel by virtual three-dimensional pharmacophore modeling. (PMID: 19634509) Ogihara T. … Kakinuma C. (Arzneimittelforschung 2009) 23 25 67
  2. Molecular modelling and QSAR analysis of some structurally diverse N-type calcium channel blockers. (PMID: 19802636) Mungalpara J. … Mohan C.G. (J Mol Model 2010) 23 67
  3. [Calcium antagonists: current and future applications based on new evidence. Calcium channel blockers and autonomic nervous system]. (PMID: 20048431) Hirooka Y. … Sunagawa K. (Clin Calcium 2010) 23 67
  4. Cilnidipine suppresses podocyte injury and proteinuria in metabolic syndrome rats: possible involvement of N-type calcium channel in podocyte. (PMID: 20411599) Fan Y.Y. … Nishiyama A. (J. Hypertens. 2010) 23 67
  5. Behavioral and neurochemical characterization of mice deficient in the N-type Ca2+ channel alpha1B subunit. (PMID: 19963013) Nakagawasai O. … Tadano T. (Behav. Brain Res. 2010) 23 67

Products for CACNA1B Gene

Sources for CACNA1B Gene

Back to Top

Content