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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
  • DYT23 3
  • CACNN 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 CCR5 Pathway in Macrophages and PEDF Induced Signaling. 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 CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CACNA1B Gene

Genomics for CACNA1B Gene

Regulatory Elements for CACNA1B Gene

Enhancers for CACNA1B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09G137422 1.4 ENCODE dbSUPER 9.7 -454.1 -454097 3.3 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A ZNF2 ZBTB7B ZNF766 CBX5 NOXA1 NPDC1 C9orf172 CACNA1B EXD3 ENTPD8
GH09G137516 0.7 FANTOM5 4.1 -360.6 -360634 0.4 BCL11B ZKSCAN1 MTA3 CTBP1 ZNF366 ZNF169 ZBTB2 MTA2 ZNF592 ZSCAN21 GRIN1 RNF208 SAPCD2 ABCA2 PNPLA7 CACNA1B ENTPD2 PIR51097 PIR44519
GH09G137405 1.8 FANTOM5 Ensembl ENCODE dbSUPER 1.5 -470.8 -470767 2.6 HDGF FUS ARID4B SIN3A RAD21 ZNF121 GLIS2 GATA2 EGR1 ZNF143 NOXA1 NRARP CACNA1B EXD3 GC09M137332
GH09G137518 0.8 FANTOM5 3 -359.0 -359037 0.4 ZBTB2 YBX1 BCL11B FOSL1 MEF2D ARID1B HDAC2 ZNF366 ZNF169 TARDBP GRIN1 PNPLA7 CACNA1B ABCA2 RNF208 ENTPD2 PIR51097 PIR44519
GH09G137592 1.4 FANTOM5 Ensembl ENCODE dbSUPER 1.7 -284.5 -284491 2.0 ESRRA KLF1 HLF ZNF384 ZBTB8A NR3C1 ZNF623 MTA1 SCRT2 GLIS1 EHMT1 PNPLA7 GRIN1 RNF208 CACNA1B TPRN ZMYND19 ARRDC1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CACNA1B on UCSC Golden Path with GeneCards custom track

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

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 Asn256, Asn1563, and posLast=16751675
  • Modification sites at PhosphoSitePlus

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.
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 IEA --
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005245 voltage-gated calcium channel activity TAS,IEA 1321501
GO:0005262 calcium channel activity TAS,IEA --
GO:0005509 calcium ion binding 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

CRISPR Products

Inhibitory RNA 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 --
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

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:0006810 transport TAS 1321501
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0007268 chemical synaptic transmission TAS 9030575
GO:0007269 neurotransmitter secretion IEA --
genes like me logo Genes that share ontologies with CACNA1B: view

Drugs & Compounds for CACNA1B Gene

(123) 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 496
Gabapentin Approved, Investigational Pharma antagonist, Target, inhibitor GABA enhancer 303
Levetiracetam Approved, Investigational Pharma blocker, Target, inhibitor Antiepileptic; binds SV2A 0
Clevidipine Approved Pharma 20
Cilnidipine Approved Pharma Blocker of Dual L- and N-type calcium channel 8

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
omega-conotoxin GVIA
Channel blocker 106375-28-4
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
Mibefradil dihydrochloride Ca2+ channel blocker (T-type) 116666-63-8
omega-Agatoxin IVA Ca2+ channel blocker (P-type) 145017-83-0
omega-Conotoxin GVIA Ca2+ channel blocker (N-type) 106375-28-4
Pregabalin Anticonvulsant; selectively binds the alpha2delta subunit of voltage-sensitive calcium channels 148553-50-8

(76) ApexBio Compounds for CACNA1B Gene

Compound Action Cas Number
(-)-Xestospongin C 88903-69-9
(R)-(+)-Bay K 8644 98791-67-4
(S)-(-)-Bay K 8644 98625-26-4
2-APB 524-95-8
A23187, free acid Ca2+ ionophore 52665-69-7
A-7 hydrochloride 79127-24-5
Amlodipine Calcium channel blocker 88150-42-9
Amlodipine Besylate Block of L-type calcium channel 111470-99-6
Azelnidipine L-type calcium channel blocker;antihypertensive 123524-52-7
Benidipine HCl Calcium channel blocker 91599-74-5
Bepridil hydrochloride 68099-86-5
Calmidazolium chloride 57265-65-3
CALP1 145224-99-3
CALP2 261969-04-4
CALP3 261969-05-5
Camstatin 1002295-95-5
CGS 9343B 109826-27-9
Cilnidipine Blocker of Dual L- and N-type calcium channel 132203-70-4
Cinepazide maleate 26328-04-1
cis-Ned 19 1137264-00-6
Clevidipine Butyrate 167221-71-8
Dantrolene, sodium salt 14663-23-1
Dehydroepiandrosterone (DHEA) Endogenous steroid hormone 53-43-0
DHBP dibromide 6159-05-3
Diltiazem HCl 33286-22-5
Efonidipine hydrochloride monoethanolate 111011-76-8
Felodipine 72509-76-3
Flunarizine 2HCl Calcium entry blocker 30484-77-6
FPL 64176 120934-96-5
Gabapentin enacarbil 478296-72-9
Gabapentin HCl GABA analog 60142-95-2
Gadolinium chloride 10138-52-0
Huwentoxin XVI N-type Ca2+ channel blocker,potent and selective 1600543-88-1
Ionomycin calcium salt ionophore 56092-82-1
Ionomycin free acid calcium ionophore 56092-81-0
Isradipine (Dynacirc) Calcium channel blocker 75695-93-1
L-651,582 99519-84-3
Lacidipine L-type calcium channel blocker 103890-78-4
Lomerizine HCl 101477-54-7
Manidipine Calcium channel blocker 89226-50-6
Manidipine 2HCl 89226-75-5
Mibefradil Calcium channel blocker 116644-53-2
ML 218 hydrochloride 1346233-68-8
MRS 1845 544478-19-5
NAADP tetrasodium salt 5502-96-5
Nicardipine HCl 54527-84-3
Nilvadipine 75530-68-6
Nisoldipine 63675-72-9
Nitrendipine Calcium channel blocker 39562-70-4
NP118809 N-type calcium channel blocker 41332-24-5
Osthole Antitumor reagent 484-12-8
PD 173212 217171-01-2
ProTx I 484598-35-8
Ranolazine 2HCl Partial fatty acid oxidation inhibitor 95635-56-6
Ruthenium Red 11103-72-3
Ryanodine 15662-33-6
SNX 482 203460-30-4
SR 33805 oxalate 121346-33-6
STO-609 acetate 1173022-21-3
Strontium Ranelate 135459-87-9
Tetracaine HCl Anaesthetic and allosteric inhibitor 136-47-0
Tetrandrine 518-34-3
Thioridazine HCl Calcium channel protein inhibitor 130-61-0
trans-Ned 19 1354235-96-3
Verapamil HCl 152-11-4
W-13 hydrochloride 88519-57-7
W-5 hydrochloride 61714-25-8
W-7 hydrochloride 61714-27-0
W-9 hydrochloride 69762-85-2
YM 58483 223499-30-7
Zonisamide Antiepileptic with anticonvulsant and mechanistic effect 68291-97-4
Zonisamide sodium 68291-98-5
ω-Agatoxin IVA 145017-83-0
ω-Agatoxin TK 158484-42-5
ω-Conotoxin GVIA 106375-28-4
ω-Conotoxin MVIIC 147794-23-8
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:

CRISPR Products

Inhibitory RNA 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, PaxDb, 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
Organs:
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

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia CACNA1B 34 35
  • 99.17 (n)
dog
(Canis familiaris)
Mammalia CACNA1B 34 35
  • 90.21 (n)
cow
(Bos Taurus)
Mammalia CACNA1B 34 35
  • 89.65 (n)
mouse
(Mus musculus)
Mammalia Cacna1b 34 16 35
  • 86.88 (n)
rat
(Rattus norvegicus)
Mammalia Cacna1b 34
  • 86.72 (n)
oppossum
(Monodelphis domestica)
Mammalia CACNA1B 35
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CACNA1B 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves CACNA1B 34 35
  • 76.35 (n)
lizard
(Anolis carolinensis)
Reptilia CACNA1B 35
  • 27 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii cacna1ba 34 35
  • 69.06 (n)
cacna1bb 35
  • 66 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11382 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002578 34
  • 64.54 (n)
fruit fly
(Drosophila melanogaster)
Insecta cac 36 34
  • 62.23 (n)
worm
(Caenorhabditis elegans)
Secernentea unc-2 34
  • 58.81 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

Paralogs for CACNA1B Gene

Variants for CACNA1B Gene

Sequence variations from dbSNP and Humsavar for CACNA1B Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs184841813 Pathogenic, Dystonia 23 (DYT23) [MIM:614860] 138,058,108(+) GTACC(A/G)CATGG nc-transcript-variant, reference, missense
rs767457983 Uncertain significance 137,877,963(+) GGCGG(C/T)CGCTA intron-variant, nc-transcript-variant, reference, synonymous-codon
rs1000014003 -- 138,073,816(+) GTGGG(C/T)TTCAT intron-variant
rs1000033378 -- 137,907,951(+) ATGAT(C/T)TGGAA intron-variant
rs1000033631 -- 137,955,234(+) GCTTT(A/G)CATCT 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)

Relevant External Links 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

(10) MalaCards diseases for CACNA1B Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
dystonia 23
  • dyt23
morvan's fibrillary chorea
autoimmune autonomic ganglionopathy
  • autoimmune autonomic neuropathy
chronic pain
  • pain - chronic
krukenberg carcinoma
  • krukenberg neoplasm
- 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.

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. Structure and functional expression of an omega-conotoxin-sensitive human N-type calcium channel. (PMID: 1321501) Williams M.E. … Harpold M.M. (Science 1992) 3 4 22 64
  2. CACNA1B mutation is linked to unique myoclonus-dystonia syndrome. (PMID: 25296916) Groen J.L. … Tijssen M.A. (Hum. Mol. Genet. 2014) 3 4 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. Strong synaptic transmission impact by copy number variations in schizophrenia. (PMID: 20489179) Glessner J.T. … Hakonarson H. (Proc. Natl. Acad. Sci. U.S.A. 2010) 3 46 64
  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 M.C. (Mol. Psychiatry 2009) 3 46 64

Products for CACNA1B Gene

Sources for CACNA1B Gene

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