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Cacna1h Gene Detail
Summary
  • 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
Location &
Maps
more
  • 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
Strain
Comparison
more
  • SNPs within 2kb
    586 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
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 (-)



Homology
more
  • 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
    NCBI Gene ID: 8912
    neXtProt AC: NX_O95180
    UniProt: O95180

  • Chr Location
    16p13.3; chr16:1153103-1224169 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with human CACNA1H associations

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    12 phenotypes from 1 allele in 2 genetic backgrounds
    65 phenotype references
Phenotype Overview

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.
Mutation of this locus results in constitutive coronary arteriole contraction and focal myocardial fibrosis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    40
  • 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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

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
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    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  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      11 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
    Molecular
    Reagents
    less
    • All nucleic 77
      cDNA 69
      Primer pair 8

      Microarray probesets 4
    References
    more
    • Summaries
      All 130
      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;
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory