Entity Details

Primary name CLIC2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO15247
EntryNameCLIC2_HUMAN
FullNameChloride intracellular channel protein 2
TaxID9606
Evidenceevidence at protein level
Length247
SequenceStatuscomplete
DateCreated1998-07-15
DateModified2021-06-02

Ontological Relatives

GenesCLIC2

GO terms

Show/Hide Table
GOName
GO:0004602 glutathione peroxidase activity
GO:0005244 voltage-gated ion channel activity
GO:0005254 chloride channel activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0006749 glutathione metabolic process
GO:0007165 signal transduction
GO:0010880 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
GO:0010881 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
GO:0034707 chloride channel complex
GO:0051099 positive regulation of binding
GO:0060315 negative regulation of ryanodine-sensitive calcium-release channel activity
GO:1902476 chloride transmembrane transport

Subcellular Location

Show/Hide Table
Subcellular Location
Cytoplasm
Membrane

Domains

Show/Hide Table
DomainNameCategoryType
IPR002946 Intracellular chloride channelFamilyFamily
IPR004045 Glutathione S-transferase, N-terminalDomainDomain
IPR010987 Glutathione S-transferase, C-terminal-likeDomainDomain
IPR030253 Chloride intracellular channel protein 2FamilyFamily
IPR036249 Thioredoxin-like superfamilyFamilyHomologous superfamily
IPR036282 Glutathione S-transferase, C-terminal domain superfamilyFamilyHomologous superfamily
IPR040079 Glutathione Transferase familyFamilyFamily

Diseases

Show/Hide Table
Disease IDSourceNameDescription
300886 OMIMMental retardation, X-linked, syndromic, 32 (MRXS32)A mental retardation syndrome characterized by profound intellectual deficit, delayed psychomotor development beginning in infancy and little or no speech development. Additional features include seizures, large joint contractures, and abnormal positioning of the thumbs. Mental retardation is defined by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. The disease is caused by variants affecting the gene represented in this entry.

Interactions

5 interactions