CACNA1H (calcium voltage-gated channel subunit alpha1 H)

2007-02-01  

Identity

HGNC
CACNA1H
LOCATION
16p13.3
LOCUSID
8912
ALIAS
CACNA1HB,Cav3.2,ECA6,EIG6,HALD4
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA448871celecoxibChemicalPathwayassociated22336956

References

Pubmed IDYearTitleCitations
385544472024The mmu_circ_003062, hsa_circ_0075663/miR-490-3p/CACNA1H axis mediates apoptosis in renal tubular cells in association with endoplasmic reticulum stress following ischemic acute kidney injury.0
385544472024The mmu_circ_003062, hsa_circ_0075663/miR-490-3p/CACNA1H axis mediates apoptosis in renal tubular cells in association with endoplasmic reticulum stress following ischemic acute kidney injury.0
367869132023Whole Exome Sequencing of Hemiplegic Migraine Patients Shows an Increased Burden of Missense Variants in CACNA1H and CACNA1I Genes.3
367869132023Whole Exome Sequencing of Hemiplegic Migraine Patients Shows an Increased Burden of Missense Variants in CACNA1H and CACNA1I Genes.3
357574092022A Novel Somatic Mutation of CACNA1H p.V1937M in Unilateral Primary Hyperaldosteronism.2
361285562022Mechanistic contribution of CaV3.2 calcium channels to trigeminal neuralgia pathophysiology not clarified.0
363470812022The T-type calcium channel Ca(V)3.2 regulates insulin secretion in the pancreatic β-cell.1
363971582022Electrophysiological and computational analysis of Ca(v)3.2 channel variants associated with familial trigeminal neuralgia.2
357574092022A Novel Somatic Mutation of CACNA1H p.V1937M in Unilateral Primary Hyperaldosteronism.2
361285562022Mechanistic contribution of CaV3.2 calcium channels to trigeminal neuralgia pathophysiology not clarified.0
363470812022The T-type calcium channel Ca(V)3.2 regulates insulin secretion in the pancreatic β-cell.1
363971582022Electrophysiological and computational analysis of Ca(v)3.2 channel variants associated with familial trigeminal neuralgia.2
334785612021Rare functional missense variants in CACNA1H: What can we learn from Writer's cramp?2
340983172021The prognosis of epilepsy patients with CACNA1H missense variants: A longitudinal cohort study.2
343998202021De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy.4

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