CLCN7 (chloride voltage-gated channel 7)

2016-10-01  

Identity

HGNC
CLCN7
LOCATION
16p13.3
LOCUSID
1186
ALIAS
CLC-7,CLC7,HOD,OPTA2,OPTB4,PPP1R63
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1186
MIM: 602727
HGNC: 2025
Ensembl: ENSG00000103249

Variants:

dbSNP: 1186
ClinVar: 1186
TCGA: ENSG00000103249
COSMIC: CLCN7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000103249ENST00000262318H0Y2M6
ENSG00000103249ENST00000382745P51798
ENSG00000103249ENST00000448525P51798
ENSG00000103249ENST00000564568H3BNG8
ENSG00000103249ENST00000569851I3L470

Expression (GTEx)

0
10
20
30
40
50
60
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
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Stimuli-sensing channelsREACTOMER-HSA-2672351

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

References

Pubmed IDYearTitleCitations
184491892008The Cl-/H+ antiporter ClC-7 is the primary chloride permeation pathway in lysosomes.118
215279112011ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity.67
145848822003Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis.43
145848822003Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis.43
171643082007Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation.27
194532612009High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.20
129299412003Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II.19
151113002004Characterization of osteoclasts from patients harboring a G215R mutation in ClC-7 causing autosomal dominant osteopetrosis type II.18
195072102009A single-center experience in 20 patients with infantile malignant osteopetrosis.16
199536392010Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.15

Citation

Dessen P

CLCN7 (chloride voltage-gated channel 7)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56206/clcn7-(chloride-voltage-gated-channel-7)