CLIC2 (chloride intracellular channel 2)

2014-11-01  

Identity

HGNC
CLIC2
LOCATION
Xq28
LOCUSID
1193
ALIAS
CLCNL2,CLIC2b,MRXS32,XAP121
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1193
MIM: 300138
HGNC: 2063
Ensembl: ENSG00000155962

Variants:

dbSNP: 1193
ClinVar: 1193
TCGA: ENSG00000155962
COSMIC: CLIC2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000155962ENST00000321926A6PVS0
ENSG00000155962ENST00000369449O15247

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
Muscle contractionREACTOMER-HSA-397014
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Stimuli-sensing channelsREACTOMER-HSA-2672351
Cardiac conductionREACTOMER-HSA-5576891
Ion homeostasisREACTOMER-HSA-5578775

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
342292972021Chloride intracellular channel protein 2 is secreted and inhibits MMP14 activity, while preventing tumor cell invasion and metastasis.8
342292972021Chloride intracellular channel protein 2 is secreted and inhibits MMP14 activity, while preventing tumor cell invasion and metastasis.8
291987052018Tilapia and human CLIC2 structures are highly conserved.3
291987052018Tilapia and human CLIC2 structures are highly conserved.3
228143922012An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity.56
228143922012An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity.56
181864682008The crystal structure of human chloride intracellular channel protein 2: a disulfide bond with functional implications.10
181864682008The crystal structure of human chloride intracellular channel protein 2: a disulfide bond with functional implications.10
179452532007Structure of the Janus protein human CLIC2.28
180070512007Expression, purification, crystallization and preliminary X-ray diffraction analysis of chloride intracellular channel 2 (CLIC2).2
179452532007Structure of the Janus protein human CLIC2.28
180070512007Expression, purification, crystallization and preliminary X-ray diffraction analysis of chloride intracellular channel 2 (CLIC2).2
151477382004CLIC-2 modulates cardiac ryanodine receptor Ca2+ release channels.22
151477382004CLIC-2 modulates cardiac ryanodine receptor Ca2+ release channels.22

Citation

Dessen P

CLIC2 (chloride intracellular channel 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61884/case-report-explorer/css/lib/gene-fusions-explorer/