CLCN1 (chloride voltage-gated channel 1)

2014-11-01 Affiliation

Identity

HGNC

CLCN1

LOCATION

7q34

LOCUSID

1180

ALIAS

CLC1

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: 1180
MIM: 118425
HGNC: 2019
Ensembl: ENSG00000188037

Variants:

dbSNP: 1180
ClinVar: 1180
TCGA: ENSG00000188037
COSMIC: CLCN1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000188037	ENST00000343257	P35523
ENSG00000188037	ENST00000432192	H7C0N6
ENSG00000188037	ENST00000455478	H7C1F4
ENSG00000188037	ENST00000650516	A0A3B3IU72

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
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
Ion channel transport	REACTOME	R-HSA-983712
Stimuli-sensing channels	REACTOME	R-HSA-2672351

References

Pubmed ID	Year	Title	Citations
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
12691663	2003	Conservation of chloride channel structure revealed by an inhibitor binding site in ClC-1.	70
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
11933197	2002	Myotonia caused by mutations in the muscle chloride channel gene CLCN1.	60
16027167	2005	Cytoplasmic ATP-sensing domains regulate gating of skeletal muscle ClC-1 chloride channels.	46
15786415	2005	Phenotypic variability in myotonia congenita.	39
17693413	2007	Inhibition of skeletal muscle ClC-1 chloride channels by low intracellular pH and ATP.	36
17664348	2007	Cytoplasmic ATP inhibition of CLC-1 is enhanced by low pH.	32
11840191	2001	Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia.	24
18337730	2008	In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.	24

Citation

Dessen P

CLCN1 (chloride voltage-gated channel 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61852/clcn1