CACNA1F (calcium voltage-gated channel subunit alpha1 F)

2016-10-01 Affiliation

Identity

HGNC

CACNA1F

LOCATION

Xp11.23

LOCUSID

778

ALIAS

AIED,COD3,COD4,CORDX,CORDX3,CSNB2,CSNB2A,CSNBX2,Cav1.4,Cav1.4alpha1,JM8,JMC8,OA2

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 778
MIM: 300110
HGNC: 1393
Ensembl: ENSG00000102001

Variants:

dbSNP: 778
ClinVar: 778
TCGA: ENSG00000102001
COSMIC: CACNA1F

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000102001	ENST00000323022	O60840
ENSG00000102001	ENST00000376251	O60840
ENSG00000102001	ENST00000376265	O60840
ENSG00000102001	ENST00000486943	H7C549

Expression (GTEx)

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

Pathway	Source	External ID
MAPK signaling pathway	KEGG	ko04010
Calcium signaling pathway	KEGG	ko04020
GnRH signaling pathway	KEGG	ko04912
Alzheimer's disease	KEGG	ko05010
MAPK signaling pathway	KEGG	hsa04010
Calcium signaling pathway	KEGG	hsa04020
GnRH signaling pathway	KEGG	hsa04912
Alzheimer's disease	KEGG	hsa05010
Cardiac muscle contraction	KEGG	hsa04260
Cardiac muscle contraction	KEGG	ko04260
Vascular smooth muscle contraction	KEGG	hsa04270
Vascular smooth muscle contraction	KEGG	ko04270
Hypertrophic cardiomyopathy (HCM)	KEGG	ko05410
Hypertrophic cardiomyopathy (HCM)	KEGG	hsa05410
Arrhythmogenic right ventricular cardiomyopathy (ARVC)	KEGG	ko05412
Arrhythmogenic right ventricular cardiomyopathy (ARVC)	KEGG	hsa05412
Dilated cardiomyopathy	KEGG	ko05414
Dilated cardiomyopathy	KEGG	hsa05414
Cholinergic synapse	KEGG	hsa04725
GABAergic synapse	KEGG	ko04727
GABAergic synapse	KEGG	hsa04727
Serotonergic synapse	KEGG	hsa04726
Retrograde endocannabinoid signaling	KEGG	hsa04723
Retrograde endocannabinoid signaling	KEGG	ko04723
Insulin secretion	KEGG	hsa04911
Adrenergic signaling in cardiomyocytes	KEGG	hsa04261
Adrenergic signaling in cardiomyocytes	KEGG	ko04261
Oxytocin signaling pathway	KEGG	hsa04921
Oxytocin signaling pathway	KEGG	ko04921
cGMP-PKG signaling pathway	KEGG	hsa04022
cGMP-PKG signaling pathway	KEGG	ko04022
cAMP signaling pathway	KEGG	hsa04024
cAMP signaling pathway	KEGG	ko04024
Renin secretion	KEGG	hsa04924
Renin secretion	KEGG	ko04924
Muscle contraction	REACTOME	R-HSA-397014
Aldosterone synthesis and secretion	KEGG	hsa04925
Aldosterone synthesis and secretion	KEGG	ko04925
Cardiac conduction	REACTOME	R-HSA-5576891
Phase 0 - rapid depolarisation	REACTOME	R-HSA-5576892
Phase 2 - plateau phase	REACTOME	R-HSA-5576893

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA448871	celecoxib	Chemical	Pathway	associated			22336956
PA451846	valproic acid	Chemical	Pathway	associated			23407051

References

Pubmed ID	Year	Title	Citations
14973233	2004	The CACNA1F gene encodes an L-type calcium channel with unique biophysical properties and tissue distribution.	68
12853422	2003	Cav1.4alpha1 subunits can form slowly inactivating dihydropyridine-sensitive L-type Ca2+ channels lacking Ca2+-dependent inactivation.	53
15897456	2005	A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation.	49
17651254	2007	Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions.	37
12954628	2003	Identification and functional characterization of voltage-dependent calcium channels in T lymphocytes.	32
23714322	2013	Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.	29
16505158	2006	X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene.	27
15634789	2005	Congenital stationary night blindness type 2 mutations S229P, G369D, L1068P, and W1440X alter channel gating or functional expression of Ca(v)1.4 L-type Ca2+ channels.	24
22936811	2012	Complex regulation of voltage-dependent activation and inactivation properties of retinal voltage-gated Cav1.4 L-type Ca2+ channels by Ca2+-binding protein 4 (CaBP4).	22
12111638	2002	Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.	21

Citation

Dessen P

CACNA1F (calcium voltage-gated channel subunit alpha1 F)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56376/cacna1f