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Aliases for CACNA1B Gene

Aliases for CACNA1B Gene

  • Calcium Voltage-Gated Channel Subunit Alpha1 B 2 3 5
  • 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
  • Voltage-Dependent N-Type Calcium Channel Subunit Alpha-1B 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 Voltage-Gated Channel Subunit Alpha1 B) is a Protein Coding gene. Diseases associated with CACNA1B include Dystonia 23 and Morvan's Fibrillary Chorea. Among its related pathways are Fc-GammaR Pathway and Synaptic vesicle cycle. Gene Ontology (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

Additional gene information for CACNA1B Gene

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

Genomics for CACNA1B Gene

GeneHancer (GH) Regulatory Elements for CACNA1B Gene

Promoters and enhancers for CACNA1B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J137876 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 650.7 +0.2 200 2.6 CTCF MXI1 USF1 SIN3A GLIS2 POLR2A PATZ1 ZNF143 KLF8 EZH2 CACNA1B LOC100133077 TUBBP5 NDOR1
GH09J137422 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 9.7 -454.1 -454096 3.3 HDGF PKNOX1 ARNT ARID4B SIN3A ZNF2 ZBTB7B YY1 ZNF766 CBX5 NOXA1 EXD3 NPDC1 AJM1 CACNA1B ENTPD8
GH09J137516 Enhancer 0.7 FANTOM5 4.2 -360.6 -360634 0.4 HDAC1 BCL11B ZKSCAN1 MTA3 CTBP1 ZNF366 ZNF169 ZNF444 GATAD2A ZBTB2 SNHG7 EHMT1 DPH7 EXD3 ANAPC2 GRIN1 RNF208 SAPCD2 ABCA2 PNPLA7
GH09J137518 Enhancer 0.8 FANTOM5 3 -359.0 -359037 0.4 HDAC1 ZBTB2 GATAD2B YBX1 BCL11B FOSL1 MEF2D ARHGAP35 HDAC2 ZNF366 EXD3 GRIN1 PNPLA7 CACNA1B ABCA2 RNF208 ENTPD2 PIR51097 PIR44519
GH09J137405 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 1.5 -470.8 -470766 2.6 HDGF RB1 ARID4B SIN3A RAD21 ZNF335 ZNF121 GLIS2 EGR1 ZNF207 INPP5E EXD3 NOXA1 ARRDC1-AS1 DPH7 NRARP CACNA1B GC09M137332
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CACNA1B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CACNA1B gene promoter:
  • deltaCREB
  • CREB
  • GATA-3
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • NF-kappaB1
  • c-Myb
  • CBF(2)
  • CBF-A

Genomic Locations for CACNA1B Gene

Genomic Locations for CACNA1B Gene
chr9:137,877,789-138,124,624
(GRCh38/hg38)
Size:
246,836 bases
Orientation:
Plus strand
chr9:140,772,241-141,019,076
(GRCh37/hg19)
Size:
246,836 bases
Orientation:
Plus strand

Genomic View for CACNA1B Gene

Genes around CACNA1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CACNA1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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. Interacts with FMR1 (via C-terminus); this interaction induces a deacrease in the number of presynaptic functional CACNA1B channels at the cell surface.

    Three dimensional structures from OCA and Proteopedia for CACNA1B Gene

    Alternative splice isoforms for CACNA1B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CACNA1B Gene

Post-translational modifications for CACNA1B Gene

  • Phosphorylated in vitro by CaM-kinase II, PKA, PKC and CGPK.
  • Glycosylation at posLast=16751675, posLast=15631563, and posLast=256256
  • 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

Gene Families for CACNA1B Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted membrane proteins
  • Voltage-gated ion channels

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.
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

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.
GENATLAS Biochemistry:
omega conotoxin sensitive,calcium channel,N type,alpha 1B subunit,exclusively expressed in neuronal tissue

Phenotypes From GWAS Catalog for CACNA1B Gene

Gene Ontology (GO) - Molecular Function for CACNA1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005245 voltage-gated calcium channel activity TAS,IEA 1321501
GO:0005261 cation channel activity IBA --
GO:0005262 calcium channel activity TAS,IEA --
genes like me logo Genes that share ontologies with CACNA1B: view
genes like me logo Genes that share phenotypes with CACNA1B: view

Human Phenotype Ontology for CACNA1B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CACNA1B Gene

MGI Knock Outs for CACNA1B:

Animal Model Products

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CACNA1B gene
Compartment Confidence
plasma membrane 5
cytoskeleton 1
cytosol 1

Gene Ontology (GO) - Cellular Components for CACNA1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS,IBA --
GO:0005891 voltage-gated calcium channel complex IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030425 dendrite IEA --
genes like me logo Genes that share ontologies with CACNA1B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CACNA1B Gene

Pathways & Interactions for CACNA1B Gene

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

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:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA,IBA --
GO:0007268 chemical synaptic transmission TAS 9030575
GO:0007269 neurotransmitter secretion IEA --
GO:0007626 locomotory behavior IEA --
genes like me logo Genes that share ontologies with CACNA1B: view

Drugs & Compounds for CACNA1B Gene

(126) Drugs for CACNA1B Gene - From: DrugBank, ApexBio, DGIdb, FDA Approved Drugs, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Amlodipine Approved Pharma blocker, Target, inhibitor Calcium channel blocker 512
Gabapentin Approved, Investigational Pharma antagonist, Target, inhibitor GABA enhancer 332
Levetiracetam Approved, Investigational Pharma blocker, Target, inhibitor 0
Cilnidipine Approved, Investigational Pharma Target, antagonist Blocker of Dual L- and N-type calcium channel 8
Nitrendipine Approved, Investigational Pharma Inhibition, Pore Blocker Calcium channel blocker, Ca2+ channel blocker (L-type) 5

(19) Additional Compounds for CACNA1B Gene - From: HMDB, IUPHAR, Novoseek, and Tocris

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

(5) Tocris Compounds for CACNA1B Gene

Compound Action Cas Number
(+-)-Bay K 8644 Ca2+ channel activator (L-type) 71145-03-4
Nimodipine Ca2+ channel blocker (L-type) 66085-59-4
Nitrendipine Ca2+ channel blocker (L-type) 39562-70-4
Ruthenium Red Non-selective Ca2+ channel blocker (N- and P-type) 11103-72-3
Verapamil hydrochloride Ca2+ channel blocker (L-type) 152-11-4
genes like me logo Genes that share compounds with CACNA1B: view

Transcripts for CACNA1B Gene

mRNA/cDNA for CACNA1B Gene

Unigene Clusters for CACNA1B Gene

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

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for CACNA1B Gene



Protein tissue co-expression partners for CACNA1B Gene

NURSA nuclear receptor signaling pathways regulating expression of CACNA1B Gene:

CACNA1B

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.

Evidence on tissue expression from TISSUES for CACNA1B Gene

  • Nervous system(4.7)
  • Lung(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CACNA1B Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • head
  • larynx
  • neck
  • vocal cord
Thorax:
  • chest wall
Abdomen:
  • abdominal wall
Limb:
  • digit
  • finger
  • hand
  • lower limb
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with CACNA1B: view

Orthologs for CACNA1B Gene

This gene was present in the common ancestor of animals.

Orthologs for CACNA1B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CACNA1B 34 33
  • 99.17 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CACNA1B 34 33
  • 90.21 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CACNA1B 34 33
  • 89.65 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cacna1b 16 34 33
  • 86.88 (n)
rat
(Rattus norvegicus)
Mammalia Cacna1b 33
  • 86.72 (n)
oppossum
(Monodelphis domestica)
Mammalia CACNA1B 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CACNA1B 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves CACNA1B 34 33
  • 76.35 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CACNA1B 34
  • 27 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii cacna1ba 34 33
  • 69.06 (n)
OneToMany
cacna1bb 34
  • 66 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11382 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002578 33
  • 64.54 (n)
fruit fly
(Drosophila melanogaster)
Insecta cac 35 33
  • 62.23 (n)
worm
(Caenorhabditis elegans)
Secernentea unc-2 33
  • 58.81 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 52 (a)
OneToMany
Species where no ortholog for CACNA1B was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CACNA1B: view image

Paralogs for CACNA1B Gene

Paralogs for CACNA1B Gene

(14) SIMAP similar genes for CACNA1B Gene using alignment to 20 proteins:

  • CAC1B_HUMAN
  • B1AQK4_HUMAN
  • B1AQK6_HUMAN
  • B1AQK7_HUMAN
  • E9PDR3_HUMAN
  • F6RH32_HUMAN
  • H0Y7I8_HUMAN
  • Q5JRE4_HUMAN
  • Q9HAT3_HUMAN
  • Q9HAT4_HUMAN
  • Q9HAT5_HUMAN
  • Q9HAT6_HUMAN
  • Q9HBG1_HUMAN
  • Q9HBG2_HUMAN
  • Q9HBG3_HUMAN
  • Q9HBH2_HUMAN
  • Q9HBH3_HUMAN
  • Q9HBH4_HUMAN
  • Q9HBI3_HUMAN
  • Q9HBI4_HUMAN

Pseudogenes.org Pseudogenes 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 Variation AA Info Type
rs184841813 pathogenic, Dystonia 23, Dystonia 23 (DYT23) [MIM:614860] 138,058,108(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1064797356 uncertain-significance, not provided 138,059,153(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs199525864 uncertain-significance, not provided 138,120,371(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant
rs767457983 uncertain-significance, not provided 137,877,963(+) C/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs1000014003 -- 138,073,816(+) T/C intron_variant

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

Variant ID Type Subtype PubMed ID
dgv145e19 CNV loss 19470904
dgv4183n106 CNV deletion 24896259
dgv4184n106 CNV deletion 24896259
dgv4185n106 CNV duplication 24896259
dgv4545e59 CNV duplication 20981092
dgv4546e59 CNV duplication 20981092
dgv48e194 CNV deletion 18987734
dgv7729n100 CNV gain 25217958
dgv7730n100 CNV gain 25217958
esv1367927 CNV deletion 17803354
esv1575931 CNV insertion 17803354
esv2137371 CNV deletion 18987734
esv2219909 CNV deletion 18987734
esv2375692 CNV deletion 18987734
esv2433439 CNV insertion 19546169
esv24429 CNV gain+loss 19812545
esv2562307 CNV deletion 19546169
esv2626823 CNV deletion 19546169
esv26628 CNV gain 19812545
esv2666889 CNV deletion 23128226
esv2667721 CNV deletion 23128226
esv2673994 CNV deletion 23128226
esv2759722 CNV gain 17122850
esv27764 CNV gain+loss 19812545
esv29520 CNV loss 19812545
esv3374046 CNV insertion 20981092
esv3422532 CNV insertion 20981092
esv3545672 CNV deletion 23714750
esv3545674 CNV deletion 23714750
esv3545679 CNV deletion 23714750
esv3545680 CNV deletion 23714750
esv3622046 CNV loss 21293372
esv3622047 CNV loss 21293372
esv3622048 CNV loss 21293372
esv3622049 CNV loss 21293372
esv3622050 CNV loss 21293372
esv3622051 CNV loss 21293372
esv3622052 CNV gain 21293372
esv3622053 CNV loss 21293372
esv3622054 CNV gain 21293372
esv3622055 CNV loss 21293372
esv3891733 CNV loss 25118596
esv4238 CNV loss 18987735
nsv1036517 CNV gain 25217958
nsv1041587 CNV gain 25217958
nsv1043683 CNV gain 25217958
nsv1047662 CNV gain 25217958
nsv1054956 CNV gain 25217958
nsv1076231 CNV deletion 25765185
nsv1077206 CNV deletion 25765185
nsv1078093 CNV duplication 25765185
nsv1110070 CNV deletion 24896259
nsv1137680 CNV deletion 24896259
nsv1141042 CNV deletion 24896259
nsv1147231 CNV duplication 26484159
nsv1148203 CNV deletion 26484159
nsv415473 CNV deletion 16902084
nsv415556 CNV deletion 16902084
nsv415961 CNV deletion 16902084
nsv415991 CNV deletion 16902084
nsv416156 CNV deletion 16902084
nsv433507 CNV loss 18776910
nsv438117 CNV loss 16468122
nsv438118 CNV loss 16468122
nsv466691 CNV gain 19166990
nsv466692 CNV gain 19166990
nsv469920 CNV gain 18288195
nsv499630 CNV loss 21111241
nsv509338 CNV insertion 20534489
nsv512132 CNV loss 21212237
nsv512133 CNV loss 21212237
nsv517336 CNV gain+loss 19592680
nsv616025 CNV gain 21841781
nsv616026 CNV gain 21841781
nsv616027 CNV gain 21841781
nsv6777 CNV deletion 18451855
nsv819257 CNV gain 19587683
nsv821456 CNV deletion 20802225
nsv825201 CNV gain 20364138
nsv831764 CNV loss 17160897
nsv8587 CNV gain+loss 18304495
nsv8588 CNV gain 18304495
nsv8589 CNV loss 18304495
nsv951214 CNV deletion 24416366

Variation tolerance for CACNA1B Gene

Residual Variation Intolerance Score: 0.789% 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)

Additional Variant Information for CACNA1B Gene

Human Gene Mutation Database (HGMD)
CACNA1B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CACNA1B

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

Disorders for CACNA1B Gene

MalaCards: The human disease database

(11) MalaCards diseases for CACNA1B Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

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.

Additional Disease Information for CACNA1B

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

No data available for Genatlas for CACNA1B Gene

Publications for CACNA1B Gene

  1. Structure and functional expression of an omega-conotoxin-sensitive human N-type calcium channel. (PMID: 1321501) Williams ME … Harpold MM (Science (New York, N.Y.) 1992) 3 4 22 58
  2. CACNA1B mutation is linked to unique myoclonus-dystonia syndrome. (PMID: 25296916) Groen JL … Tijssen MA (Human molecular genetics 2015) 3 4 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Strong synaptic transmission impact by copy number variations in schizophrenia. (PMID: 20489179) Glessner JT … Hakonarson H (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 44 58
  5. Gene-wide analyses of genome-wide association data sets: evidence for multiple common risk alleles for schizophrenia and bipolar disorder and for overlap in genetic risk. (PMID: 19065143) Moskvina V … O'Donovan MC (Molecular psychiatry 2009) 3 44 58

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