CACNA1H (calcium voltage-gated channel subunit alpha1 H)

2007-02-01  

Identity

HGNC
LOCATION
16p13.3
LOCUSID
ALIAS
CACNA1HB,Cav3.2,ECA6,EIG6,HALD4
FUSION GENES

Other Information

Locus ID:

NCBI: 8912
MIM: 607904
HGNC: 1395
Ensembl: ENSG00000196557

Variants:

dbSNP: 8912
ClinVar: 8912
TCGA: ENSG00000196557
COSMIC: CACNA1H

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000196557ENST00000348261O95180
ENSG00000196557ENST00000358590O95180
ENSG00000196557ENST00000562079H3BMW6
ENSG00000196557ENST00000564231H3BUA8
ENSG00000196557ENST00000565831O95180
ENSG00000196557ENST00000569107H3BNT0
ENSG00000196557ENST00000637236A0A1W2PS38
ENSG00000196557ENST00000638323A0A1W2PR14
ENSG00000196557ENST00000639478A0A1W2PQW2
ENSG00000196557ENST00000640028A0A1W2PQ19

Expression (GTEx)

0
50
100
150
200
250

Pathways

PathwaySourceExternal ID
MAPK signaling pathwayKEGGko04010
Calcium signaling pathwayKEGGko04020
MAPK signaling pathwayKEGGhsa04010
Calcium signaling pathwayKEGGhsa04020
Circadian entrainmentKEGGhsa04713
Circadian entrainmentKEGGko04713
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
NCAM signaling for neurite out-growthREACTOMER-HSA-375165
NCAM1 interactionsREACTOMER-HSA-419037
Aldosterone synthesis and secretionKEGGhsa04925
Aldosterone synthesis and secretionKEGGko04925

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA448871celecoxibChemicalPathwayassociated22336956

References

Pubmed IDYearTitleCitations
196093472009A genome-wide association study of hypertension and blood pressure in African Americans.185
128916772003Association between genetic variation of CACNA1H and childhood absence epilepsy.95
167546862006CACNA1H mutations in autism spectrum disorders.62
167546862006CACNA1H mutations in autism spectrum disorders.62
154988032005The 'window' T-type calcium current in brain dynamics of different behavioural states.60
259077362015Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism.58
191448372009A Cav3.2 T-type calcium channel point mutation has splice-variant-specific effects on function and segregates with seizure expression in a polygenic rat model of absence epilepsy.54
176961202007Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants.50
176961202007Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants.50
202019262010Human variation in alcohol response is influenced by variation in neuronal signaling genes.45

Citation

Dessen P

CACNA1H (calcium voltage-gated channel subunit alpha1 H)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43967/cacna1h