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Cacna1h
Gene Detail
Symbol

Name
ID
Cacna1h
calcium channel, voltage-dependent, T type, alpha 1H subunit
MGI:1928842
Synonyms
alpha13.2, Cav3.2, mKIAA1120, T-type Cav3.2
Feature Type
protein coding gene
Genetic Map
Chromosome 17
12.53 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr17:25374285-25433783 bp, - strand
From VEGA annotation of GRCm38

  59499 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:56913  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: CACNA1H
Gene Tree: Cacna1h

Human
homologs
CACNA1H, calcium channel, voltage-dependent, T type, alpha 1H subunit
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 8912
neXtProt AC: NX_O95180

Human Synonyms: CACNA1HB, Cav3.2, ECA6, EIG6

Human Chr (Location): 16p13.3; chr16:1153241-1221772 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human CACNA1H

Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Radiation induced(2) Targeted(4)
Genomic Mutations involving Cacna1h (2)
Incidental mutations (data from Mutagenetix , APF )
 
Mutation of this locus results in constitutive coronary arteriole contraction and focal myocardial fibrosis.
 
Interactions
Cacna1h interacts with 228 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (41 annotations)
Process aldosterone biosynthetic process, calcium ion import, ...
Component caveola, cytoplasm, ...
Function calcium channel activity, ion channel activity, ...
External Resources: FuncBase
Expression
Literature Summary: (11 records)
Data Summary: Results (126)    Tissues (39)    Images (29)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 4
RNA in situ 97
RT-PCR 25
cDNA source data(68)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Other vertebrate links: Xenbase cacna1h ; ZFIN cacna1ha    NEW 
Molecular
reagents
All nucleic(75) cDNA(68) Primer pair(7)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000034314 (Evidence)
Ensembl Gene Model ENSMUSG00000024112 (Evidence)
Entrez Gene 58226 (Evidence)
UniGene 268378
DFCI TC1575583, TC1592454, TC1688686
NIA Mouse Gene Index U037554
Consensus CDS Project CCDS37501.1
International Mouse Phenotyping Consortium Status Cacna1h
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000034314 VEGA Gene Model | MGI Sequence Detail 59499 C57BL/6J ±  kb
transcript OTTMUST00000087302 VEGA | MGI Sequence Detail 8230 Not Applicable 
polypeptide OTTMUSP00000047374 VEGA | MGI Sequence Detail 2359 Not Applicable 

For the selected sequences
All sequences(84) RefSeq(12) UniProt(11)
Polymorphisms
PCR(1) : SNPs within 2kb(601 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR005821 Ion transport domain
InterPro IPR005445 Voltage-dependent calcium channel, T-type, alpha-1 subunit
InterPro IPR027359 Voltage-dependent potassium channel, four helix bundle domain
Protein Ontology PR:000004941 voltage-dependent T-type calcium channel subunit alpha-1H
References
(Earliest) J:67141 Cribbs LL, et al., Cloning and characterization of alpha1H from human heart, a member of the T-type Ca2+ channel gene family. Circ Res. 1998 Jul 13;83(1):103-9
(Latest) J:220891 Francois A, et al., The Low-Threshold Calcium Channel Cav3.2 Determines Low-Threshold Mechanoreceptor Function. Cell Rep. 2015 Jan 14;
All references(72)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory