CLIC2 (chloride intracellular channel 2)

2014-11-01  

Identity

HGNC
LOCATION
Xq28
LOCUSID
ALIAS
CLCNL2,CLIC2b,MRXS32,XAP121
FUSION GENES

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

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

References

Pubmed IDYearTitleCitations
228143922012An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity.37
179452532007Structure of the Janus protein human CLIC2.22
151477382004CLIC-2 modulates cardiac ryanodine receptor Ca2+ release channels.18
181864682008The crystal structure of human chloride intracellular channel protein 2: a disulfide bond with functional implications.9
180070512007Expression, purification, crystallization and preliminary X-ray diffraction analysis of chloride intracellular channel 2 (CLIC2).2
291987052018Tilapia and human CLIC2 structures are highly conserved.2

Citation

Dessen P

CLIC2 (chloride intracellular channel 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61884/clic2