2. Gene
  3. CLIC2 - chloride intracellular channel 2 Gene

CLIC2 - chloride intracellular channel 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference 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 Reference 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 Reference 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_N_3: Glutathione S-transferase, N-terminal domain (30 - 95)

GST_C_2

GST_C_2: Glutathione S-transferase, C-terminal domain (141 - 216)

  • 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 Pre-designed Sets / 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