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 zebrafish

Gene Tree: Cacna1h

Human homologs

Human Homolog		CACNA1H, calcium channel, voltage-dependent, T type, alpha 1H subunit
NCBI Gene ID		8912
neXtProt AC		NX_O95180
Human Synonyms		CACNA1HB, Cav3.2, ECA6, EIG6
Human Chr (Location)		16p13.3; chr16:1203241-1271772 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human CACNA1H

Alleles and phenotypes

All alleles(3) : Targeted(3)
 

Mutation of this locus results in constitutive coronary arteriole contraction and focal myocardial fibrosis.

 

Gene Ontology (GO) classifications

All GO classifications: (37 annotations)

Process	aldosterone biosynthetic process, calcium ion import, ...
Component	caveola, cytoplasm, ...
Function	calcium channel activity, ion channel activity, ...

External Resources: FuncBase

Expression

Literature Summary: (10 records)
Data Summary: Results (121)    Tissues (31)    Images (24)
Theiler Stages: 15, 17, 20, 22, 23, 24, 25, 26, 28

Assay Type	Results
RNA in situ	97
RT-PCR	24

cDNA source data(68)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(74) cDNA(68) Primer pair(6)
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 Knockout Project Status	Cacna1h

Sequences

Length	Strain/Species
genomic	OTTMUSG00000034314	VEGA Gene Model | MGI Sequence Detail	59499	C57BL/6J
transcript	OTTMUST00000087302	VEGA | MGI Sequence Detail	8230	Not Applicable
polypeptide	OTTMUSP00000047374	VEGA | MGI Sequence Detail	2359	Not Applicable

All sequences(76) RefSeq(4) UniProt(11)

Polymorphisms

PCR(1) : SNPs(408 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR005821	Ion transport domain
InterPro	IPR005445	Voltage-dependent calcium channel, T-type, alpha-1 subunit
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:192487 Cui J, et al., Expression of CaV3.2 T-type Ca(2)(+) channels in a subpopulation of retinal type-3 cone bipolar cells. Neuroscience. 2012 Nov 8;224:63-9
All references(63)