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
36469668	2023	Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series.	0
36469668	2023	Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series.	0
35065730	2022	Strikingly High Myopia in Aland Island Eye Disease.	0
35697328	2022	Two novel CACNA1F gene mutations cause two different phenotypes: Aland Eye Disease and incomplete Congenital Stationary Night Blindness.	4
36165086	2022	Identification of a novel CACNA1F mutation in a Chinese family with CORDX3.	2
36191840	2022	Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural Modeling.	1
35065730	2022	Strikingly High Myopia in Aland Island Eye Disease.	0
35697328	2022	Two novel CACNA1F gene mutations cause two different phenotypes: Aland Eye Disease and incomplete Congenital Stationary Night Blindness.	4
36165086	2022	Identification of a novel CACNA1F mutation in a Chinese family with CORDX3.	2
36191840	2022	Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural Modeling.	1
33513752	2021	A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness.	7
33668843	2021	Optic Atrophy and Inner Retinal Thinning in CACNA1F-related Congenital Stationary Night Blindness.	2
33513752	2021	A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness.	7
33668843	2021	Optic Atrophy and Inner Retinal Thinning in CACNA1F-related Congenital Stationary Night Blindness.	2
33037074	2020	Functional impact of a congenital stationary night blindness type 2 mutation depends on subunit composition of Ca(v)1.4 Ca(2+) channels.	5

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