CLIC2 - chloride intracellular channel 2 Gene

Also Known as CLCNL2; CLIC2b; MRXS32; XAP121

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1193

About CLIC2

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:155,276,211-155,334,614 (from NCBI)

This gene has 4 transcripts (splice variants), 234 orthologues, 14 paralogues and is associated with 4 phenotypes. Broad expression in spleen (RPKM 21.8), thyroid (RPKM 19.2) and 23 other tissues.

Summary

This gene encodes a chloride intracellular channel protein. Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. This protein plays a role in inhibiting the function of ryanodine receptor 2. A mutation in this gene is the cause of an X-linked form of cognitive disability. [provided by RefSeq, Jul 2017]

CLIC2 Products (1)

mRNA	Protein	Name
NM_001289.6	NP_001280.3	chloride intracellular channel protein 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables glutathione peroxidase activity	IDA IDA: Inferred from direct assay	15147738	GOA
NOT enables glutathione transferase activity	IDA IDA: Inferred from direct assay	15147738	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12681486	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of ryanodine-sensitive calcium-release channel activity	IDA IDA: Inferred from direct assay	15147738	GOA
involved in positive regulation of binding	IDA IDA: Inferred from direct assay	15916532	GOA
involved in regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IDA IDA: Inferred from direct assay	15147738	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	15916532	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CLIC2 Protein Structure

GST_N_3

GST_C_2

0
100
200
247 a.a.

Protein Preferred Names	Protein Names
chloride intracellular channel protein 2

CLIC2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CLIC2	O15247	TPRN	Homo sapiens	Q4KMQ1-2	Validated Y2H	32296183
Intra	CLIC2	O15247	TPRN	Homo sapiens	Q4KMQ1-2	Y2H Prey Pooling	32296183
Intra	CLIC2	O15247	TPRN	Homo sapiens	Q4KMQ1-2	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant CLIC2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7843	CLIC2/XAP121 Protein, Human (His)	O15247 (M1-S247)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Intellectual Developmental Disorder, X-Linked, Syndromic 32	MRXS32 Mental Retardation, X-Linked, Syndromic 32 Intellectual Developmental Disorder, X-Linked Syndromic 32 Mental Retardation, X-Linked, Syndromic, Type 32
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Mental Retardation, X-Linked, Syndromic 32 Mrxs32
Chromosome Xq28 Duplication Syndrome	Distal Xq28 Microduplication Syndrome Distal Dup(X)Q(28) Distal Trisomy Xq28 Int22h1/Int22h2 Mediated-Xq28 Microduplication Syndrome
Non-Syndromic X-Linked Intellectual Disability 72	Mrx72
Syndromic X-Linked Intellectual Disability Snyder Type	Snyder-Robinson Syndrome Mental Retardation, X-Linked, Snyder-Robinson Type Spermine Synthase Deficiency Srs Snyder-Robinson Mental Retardation Syndrome X-Linked Intellectual Disability Snyder-Robinson Type Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type Snyder-Robinson X-Linked Mental Retardation Syndrome
Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency	Favism Favism, Susceptibility To Hemolytic Anemia, G6pd Deficient Class I Glucose-6-Phosphate Dehydrogenase Deficiency Class I G6pd Deficiency Severe Hemolytic Anemia Due To G6pd Deficiency Anemia, Non-Spherocytic Hemolytic, Due To G6pd Deficiency NSHA G6pd Deficient Hemolytic Anemia
Waisman Syndrome	Early-Onset Parkinsonism-Intellectual Disability Syndrome Bgmr Wsn Laxova-Opitz Syndrome WSMN Parkinsonism, Early-Onset, With Mental Retardation Basal Ganglion Disorder With Mental Retardation Basal Ganglia Disorder With Intellectual Disability Laxova Brown Hogan Syndrome X-Linked Recessive Basal Ganglia Disorder With Intellectual Disability
Murray Valley Encephalitis	Australian Encephalitis Australian X Disease Encephalitis Australia Murray River Encephalitis Australian Arboencephalitis Australian X Disorder Mve - [Murray Valley Encephalitis]
Non-Syndromic X-Linked Intellectual Disability	X-Linked Non-Syndromic Intellectual Disability Non-Specific X-Linked Mental Retardation X-Linked Non-Specific Intellectual Disability

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02804	CLIC2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25297	Clic2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	CLIC2	VGNC	VGNC:39338
Macaca mulatta	CLIC2	VGNC	VGNC:71254
Bos taurus	CLIC2	VGNC	VGNC:27440
Rattus norvegicus	CLIC2	RGD	RGD:1306580
Others	CLIC2	NCBI