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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 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; chr16:1153241-1221772 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human CACNA1H
Alleles
and
phenotypes
All alleles(3) : Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
Mutation of this locus results in constitutive coronary arteriole contraction and focal myocardial fibrosis.
 
Gene Ontology
(GO)
classifications
All GO classifications: (40 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 (126)    Tissues (36)    Images (29)
Theiler Stages: 13, 15, 17, 20, 22, 23, 24, 25, 26, 28
Assay TypeResults
Immunohistochemistry 4
RNA in situ 97
RT-PCR 25
cDNA source data(68)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress
Molecular
reagents
All nucleic(75) cDNA(68) Primer pair(7)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000034314 (Evidence)
Ensembl Gene ModelENSMUSG00000024112 (Evidence)
Entrez Gene58226 (Evidence)
UniGene268378
DFCITC1575583, TC1592454, TC1688686
NIA Mouse Gene IndexU037554
Consensus CDS ProjectCCDS37501.1
International Mouse Knockout Project StatusCacna1h
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:208830 Lin SS, et al., Cav3.2 T-type calcium channel is required for the NFAT-dependent Sox9 expression in tracheal cartilage. Proc Natl Acad Sci U S A. 2014 May 13;111(19):E1990-8
All references(67)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory