CLIC2 - chloride intracellular channel 2 Gene

Homo sapiens

Also known as CLCNL2; CLIC2b; MRXS32; XAP121

Gene ID: 1193 | Gene type: protein coding

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

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

Recombinant CLIC2 Proteins

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

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

Bioactive Molecules (1)

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

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