Cacna1h MGI Mouse Gene Detail - MGI:1928842 - calcium channel, voltage-dependent, T type, alpha 1H subunit

Symbol

Cacna1h
Name

calcium channel, voltage-dependent, T type, alpha 1H subunit
Synonyms

alpha13.2, Cav3.2, mKIAA1120, T-type Cav3.2

Feature Type

protein coding gene
IDs

MGI:1928842
NCBI Gene: 58226
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr17:25593259-25652759 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 17, 12.53 cM
Mapping Data

4 experiments

SNPs within 2kb

1436 from dbSNP Build 142
Strain Annotations

18
PCR

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1928842	protein coding gene	Chr17:25593259-25655308 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0023355	protein coding gene	Chr17:24437731-24500782 (-)
A/J	MGP_AJ_G0023314	protein coding gene	Chr17:23745623-23805450 (-)
AKR/J	MGP_AKRJ_G0023280	protein coding gene	Chr17:23845040-23907417 (-)
BALB/cJ	MGP_BALBcJ_G0023319	protein coding gene	Chr17:23952636-24018210 (-)
C3H/HeJ	MGP_C3HHeJ_G0023079	protein coding gene	Chr17:24218711-24280096 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0023761	protein coding gene	Chr17:25499097-25565301 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0021237	protein coding gene	Chr17:21207136-21266609 (-)
CAST/EiJ	MGP_CASTEiJ_G0022581	protein coding gene	Chr17:24087707-24147666 (-)
CBA/J	MGP_CBAJ_G0023054	protein coding gene	Chr17:26364155-26438038 (-)
DBA/2J	MGP_DBA2J_G0023184	protein coding gene	Chr17:23342314-23401169 (-)
FVB/NJ	MGP_FVBNJ_G0023154	protein coding gene	Chr17:23059992-23121295 (-)
LP/J	MGP_LPJ_G0023261	protein coding gene	Chr17:24727618-24793962 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0023173	protein coding gene	Chr17:26018899-26080602 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0023801	protein coding gene	Chr17:24131633-24195928 (-)
PWK/PhJ	MGP_PWKPhJ_G0022330	protein coding gene	Chr17:22096890-22157970 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0022148	protein coding gene	Chr17:22217245-22284829 (-)
WSB/EiJ	MGP_WSBEiJ_G0022644	protein coding gene	Chr17:24197490-24262983 (-)

Human Ortholog

CACNA1H, calcium voltage-gated channel subunit alpha1 H

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CACNA1H, calcium voltage-gated channel subunit alpha1 H
Synonyms

CACNA1HB, Cav3.2, ECA6, EIG6, HALD4
Links

HGNC:1395

NCBI Gene ID: 8912

neXtProt AC: NX_O95180

UniProt: O95180
Chr Location

16p13.3; chr16:1153103-1224169 (+) GRCh38

MGI Vertebrate Homology

Cacna1h stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: CACNA1H
Gene Tree

Cacna1h

Diseases

2 with human CACNA1H associations

				Human Disease	Mouse Models
				childhood absence epilepsy IDs childhood absence epilepsy DOID:1825 MESH:D004832 NCI:C3023 UMLS_CUI:C0014553
				primary hyperaldosteronism IDs primary hyperaldosteronism DOID:446 ICD10CM:E24 ICD10CM:E26 ICD9CM:255.0 ICD9CM:255.1 ICD9CM:255.10 MESH:D003480 MESH:D006929 NCI:C113213 NCI:C2969 OMIM:605635 OMIM:613677 ORDO:235936 UMLS_CUI:C0010481 UMLS_CUI:C0020428

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

12 phenotypes from 1 allele in 2 genetic backgrounds
65 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

12
Endonuclease-mediated

4
Radiation induced

2
Targeted

6
Genomic Mutations

2 involving Cacna1h
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

98 strains or lines available
Comparison Matrix

Gene Expression + Phenotype
Recombinase Activity

Comparison Matrix Gene Expression + Recombinase Activity

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

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All GO Annotations

39
GO References

8

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

843
Tissues

46
cDNA Data

69
Literature Summary

22

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

Xenbase cacna1h

ZFIN cacna1ha

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All Sequences

87
RefSeq

12
UniProt

12
CCDS

CCDS37501.1

Ensembl

ENSMUSG00000024112 (Evidence)
NCBI Gene

58226

			Length	Strain/Species	Flank
genomic	ENSMUSG00000024112	Ensembl Gene Model \| MGI Sequence Detail	59501	C57BL/6J	± kb
transcript	ENSMUST00000249750	Ensembl \| MGI Sequence Detail	8299	Not Applicable
polypeptide	ENSMUSP00000159916	Ensembl \| MGI Sequence Detail	2382	Not Applicable

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UniProt

12 Sequences
Protein Ontology

PR:000004941 voltage-dependent T-type calcium channel subunit alpha-1H

(term hierarchy)
InterPro Domains

IPR005821 Ion transport domain

IPR005445 Voltage-dependent calcium channel, T-type, alpha-1 subunit

IPR027359 Voltage-dependent channel domain superfamily

IPR043203 Voltage-gated cation channel calcium and sodium
GlyGen

O88427 4 sites, 2 N-linked glycans (2 sites)

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All nucleic 77

cDNA 69

Primer pair 8

Microarray probesets 4

Summaries

All 129

Developmental Gene Expression 22

Gene Ontology 8

Phenotypes 65
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:343527 Ahn JW, et al., Cav3.2 T-Type Calcium Channel Mediates Acute Itch and Contributes to Chronic Itch and Inflammation in Experimental Atopic Dermatitis. J Invest Dermatol. 2023 Oct 18;

TSS for Cacna1h:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr146843	Chr17:25652749-25652764 (-)	2 bp
Tssr146842	Chr17:25652716-25652741 (-)	30 bp
Tssr146841	Chr17:25652585-25652595 (-)	169 bp
Tssr146840	Chr17:25652528-25652548 (-)	221 bp
Tssr146839	Chr17:25652237-25652281 (-)	500 bp
Tssr146838	Chr17:25627178-25627182 (-)	25,579 bp
Tssr146837	Chr17:25611465-25611467 (-)	41,293 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24