Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1193
Gene name	Chloride intracellular channel 2
Gene symbol	CLIC2
Synonyms (NCBI Gene)	CLCNL2CLIC2bMRXS32XAP121
Chromosome	X
Chromosome location	Xq28
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 intrac

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SNP ID	Visualize variation	Clinical significance	Consequence
rs398122917	G>C	Pathogenic	Missense variant, coding sequence variant

150

Show/Hide all (150)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017468	hsa-miR-335-5p	Microarray	18185580
MIRT029268	hsa-miR-26b-5p	Microarray	19088304
MIRT896243	hsa-miR-101	CLIP-seq
MIRT896244	hsa-miR-1254	CLIP-seq
MIRT896245	hsa-miR-1305	CLIP-seq
MIRT896246	hsa-miR-3116	CLIP-seq
MIRT896247	hsa-miR-33a	CLIP-seq
MIRT896248	hsa-miR-33b	CLIP-seq
MIRT896249	hsa-miR-3620	CLIP-seq
MIRT896250	hsa-miR-4282	CLIP-seq
MIRT896251	hsa-miR-4645-3p	CLIP-seq
MIRT896252	hsa-miR-4652-3p	CLIP-seq
MIRT896253	hsa-miR-4666-3p	CLIP-seq
MIRT896254	hsa-miR-4694-5p	CLIP-seq
MIRT896255	hsa-miR-4768-5p	CLIP-seq
MIRT896256	hsa-miR-4795-3p	CLIP-seq
MIRT896257	hsa-miR-495	CLIP-seq
MIRT896258	hsa-miR-498	CLIP-seq
MIRT896259	hsa-miR-511	CLIP-seq
MIRT896260	hsa-miR-550a	CLIP-seq
MIRT896261	hsa-miR-656	CLIP-seq
MIRT896262	hsa-miR-661	CLIP-seq
MIRT1965729	hsa-miR-3180-5p	CLIP-seq
MIRT1965730	hsa-miR-3607-5p	CLIP-seq
MIRT896250	hsa-miR-4282	CLIP-seq
MIRT896254	hsa-miR-4694-5p	CLIP-seq
MIRT1965731	hsa-miR-4765	CLIP-seq
MIRT1965732	hsa-miR-520a-5p	CLIP-seq
MIRT1965733	hsa-miR-525-5p	CLIP-seq
MIRT2201640	hsa-miR-3074-3p	CLIP-seq
MIRT2201641	hsa-miR-361-5p	CLIP-seq
MIRT2442080	hsa-miR-1265	CLIP-seq
MIRT2442081	hsa-miR-3171	CLIP-seq
MIRT2442082	hsa-miR-4502	CLIP-seq
MIRT896243	hsa-miR-101	CLIP-seq
MIRT2504545	hsa-miR-1178	CLIP-seq
MIRT2504546	hsa-miR-127-5p	CLIP-seq
MIRT2504547	hsa-miR-1284	CLIP-seq
MIRT2504548	hsa-miR-129-5p	CLIP-seq
MIRT896245	hsa-miR-1305	CLIP-seq
MIRT2504549	hsa-miR-140-5p	CLIP-seq
MIRT2504550	hsa-miR-203	CLIP-seq
MIRT2504551	hsa-miR-21	CLIP-seq
MIRT2504552	hsa-miR-221	CLIP-seq
MIRT2504553	hsa-miR-222	CLIP-seq
MIRT2504554	hsa-miR-3140-3p	CLIP-seq
MIRT2504555	hsa-miR-3158-5p	CLIP-seq
MIRT2504556	hsa-miR-3160-5p	CLIP-seq
MIRT2504557	hsa-miR-3166	CLIP-seq
MIRT2504558	hsa-miR-323-3p	CLIP-seq
MIRT896249	hsa-miR-3620	CLIP-seq
MIRT2504559	hsa-miR-384	CLIP-seq
MIRT2504560	hsa-miR-3924	CLIP-seq
MIRT896250	hsa-miR-4282	CLIP-seq
MIRT2504561	hsa-miR-4317	CLIP-seq
MIRT2504562	hsa-miR-4318	CLIP-seq
MIRT2504563	hsa-miR-4418	CLIP-seq
MIRT2504564	hsa-miR-4522	CLIP-seq
MIRT2504565	hsa-miR-4635	CLIP-seq
MIRT896251	hsa-miR-4645-3p	CLIP-seq
MIRT2504566	hsa-miR-4659a-5p	CLIP-seq
MIRT2504567	hsa-miR-4659b-5p	CLIP-seq
MIRT2504568	hsa-miR-4693-5p	CLIP-seq
MIRT2504569	hsa-miR-4704-5p	CLIP-seq
MIRT2504570	hsa-miR-4715-3p	CLIP-seq
MIRT2504571	hsa-miR-4716-5p	CLIP-seq
MIRT2504572	hsa-miR-4729	CLIP-seq
MIRT2504573	hsa-miR-4771	CLIP-seq
MIRT2504574	hsa-miR-4776-3p	CLIP-seq
MIRT896256	hsa-miR-4795-3p	CLIP-seq
MIRT896258	hsa-miR-498	CLIP-seq
MIRT2504575	hsa-miR-509-3-5p	CLIP-seq
MIRT2504576	hsa-miR-509-5p	CLIP-seq
MIRT2504577	hsa-miR-513a-3p	CLIP-seq
MIRT2504578	hsa-miR-548ac	CLIP-seq
MIRT2504579	hsa-miR-548ad	CLIP-seq
MIRT2504580	hsa-miR-548ae	CLIP-seq
MIRT2504581	hsa-miR-548aj	CLIP-seq
MIRT2504582	hsa-miR-548am	CLIP-seq
MIRT2504583	hsa-miR-548d-3p	CLIP-seq
MIRT2504584	hsa-miR-548v	CLIP-seq
MIRT2504585	hsa-miR-548x	CLIP-seq
MIRT2504586	hsa-miR-548z	CLIP-seq
MIRT2504587	hsa-miR-577	CLIP-seq
MIRT2504588	hsa-miR-579	CLIP-seq
MIRT2504589	hsa-miR-584	CLIP-seq
MIRT2504590	hsa-miR-586	CLIP-seq
MIRT2504591	hsa-miR-587	CLIP-seq
MIRT2504592	hsa-miR-590-3p	CLIP-seq
MIRT2504593	hsa-miR-590-5p	CLIP-seq
MIRT2504594	hsa-miR-616	CLIP-seq
MIRT2504595	hsa-miR-665	CLIP-seq
MIRT2504596	hsa-miR-892a	CLIP-seq
MIRT2504597	hsa-miR-944	CLIP-seq
MIRT896243	hsa-miR-101	CLIP-seq
MIRT2504545	hsa-miR-1178	CLIP-seq
MIRT2504546	hsa-miR-127-5p	CLIP-seq
MIRT2504547	hsa-miR-1284	CLIP-seq
MIRT2504548	hsa-miR-129-5p	CLIP-seq
MIRT896245	hsa-miR-1305	CLIP-seq
MIRT2504550	hsa-miR-203	CLIP-seq
MIRT2504551	hsa-miR-21	CLIP-seq
MIRT2504552	hsa-miR-221	CLIP-seq
MIRT2504553	hsa-miR-222	CLIP-seq
MIRT2504554	hsa-miR-3140-3p	CLIP-seq
MIRT2504555	hsa-miR-3158-5p	CLIP-seq
MIRT2504556	hsa-miR-3160-5p	CLIP-seq
MIRT2504557	hsa-miR-3166	CLIP-seq
MIRT2504558	hsa-miR-323-3p	CLIP-seq
MIRT896249	hsa-miR-3620	CLIP-seq
MIRT2504559	hsa-miR-384	CLIP-seq
MIRT2504560	hsa-miR-3924	CLIP-seq
MIRT896250	hsa-miR-4282	CLIP-seq
MIRT2504561	hsa-miR-4317	CLIP-seq
MIRT2504562	hsa-miR-4318	CLIP-seq
MIRT2678284	hsa-miR-4325	CLIP-seq
MIRT2504563	hsa-miR-4418	CLIP-seq
MIRT2504564	hsa-miR-4522	CLIP-seq
MIRT2504565	hsa-miR-4635	CLIP-seq
MIRT896251	hsa-miR-4645-3p	CLIP-seq
MIRT2504568	hsa-miR-4693-5p	CLIP-seq
MIRT2504569	hsa-miR-4704-5p	CLIP-seq
MIRT2504570	hsa-miR-4715-3p	CLIP-seq
MIRT2504571	hsa-miR-4716-5p	CLIP-seq
MIRT2504572	hsa-miR-4729	CLIP-seq
MIRT2504573	hsa-miR-4771	CLIP-seq
MIRT2678285	hsa-miR-4793-3p	CLIP-seq
MIRT896256	hsa-miR-4795-3p	CLIP-seq
MIRT896258	hsa-miR-498	CLIP-seq
MIRT2504575	hsa-miR-509-3-5p	CLIP-seq
MIRT2504576	hsa-miR-509-5p	CLIP-seq
MIRT2504577	hsa-miR-513a-3p	CLIP-seq
MIRT2504578	hsa-miR-548ac	CLIP-seq
MIRT2504579	hsa-miR-548ad	CLIP-seq
MIRT2504580	hsa-miR-548ae	CLIP-seq
MIRT2504581	hsa-miR-548aj	CLIP-seq
MIRT2504582	hsa-miR-548am	CLIP-seq
MIRT2504583	hsa-miR-548d-3p	CLIP-seq
MIRT2504584	hsa-miR-548v	CLIP-seq
MIRT2504585	hsa-miR-548x	CLIP-seq
MIRT2504586	hsa-miR-548z	CLIP-seq
MIRT2504588	hsa-miR-579	CLIP-seq
MIRT2504589	hsa-miR-584	CLIP-seq
MIRT2504590	hsa-miR-586	CLIP-seq
MIRT2504591	hsa-miR-587	CLIP-seq
MIRT2504592	hsa-miR-590-3p	CLIP-seq
MIRT2504593	hsa-miR-590-5p	CLIP-seq
MIRT2504594	hsa-miR-616	CLIP-seq
MIRT2504595	hsa-miR-665	CLIP-seq
MIRT2504596	hsa-miR-892a	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0004364	Function	Glutathione transferase activity	IDA	15147738
GO:0004602	Function	Glutathione peroxidase activity	IDA	15147738
GO:0005254	Function	Chloride channel activity	IBA
GO:0005254	Function	Chloride channel activity	IEA
GO:0005254	Function	Chloride channel activity	TAS	9339381
GO:0005515	Function	Protein binding	IPI	12681486, 32296183
GO:0005634	Component	Nucleus	TAS	16130169
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	15916532
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	16130169
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006821	Process	Chloride transport	IBA
GO:0006821	Process	Chloride transport	IEA
GO:0007165	Process	Signal transduction	TAS	16130169
GO:0010880	Process	Regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IDA	15147738, 15916532
GO:0010881	Process	Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IDA	15147738
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0034707	Component	Chloride channel complex	IEA
GO:0098869	Process	Cellular oxidant detoxification	IEA
GO:1902476	Process	Chloride transmembrane transport	IEA

MIM	HGNC	e!Ensembl
300138	2063	ENSG00000155962

O15247

Protein name

Chloride intracellular channel protein 2 (Glutaredoxin-like oxidoreductase CLIC2) (EC 1.8.-.-) (Glutaredoxin-like peroxidase CLIC2) (EC 1.11.1.-) (XAP121)

Protein function

In the soluble state, catalyzes glutaredoxin-like thiol disulfide exchange reactions with reduced glutathione as electron donor. Displays weak glutathione peroxidase activity (Probable) (PubMed:25581026). Can insert into membranes and form chlor

PDB

2PER , 2R4V , 2R5G

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13409	GST_N_2	29 → 93	Glutathione S-transferase, N-terminal domain	Domain
PF13410	GST_C_2	74 → 218		Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in adult and fetal brain, heart, skeletal muscle, liver, lung, and spleen. Detected in adult stomach and testis. Expressed in fetal thymus and kidney. {ECO:0000269|PubMed:15147738, ECO:0000269|PubMed:22814392}.

Sequence

MSGLRPGTQVDPEIELFVKAGSDGESIGNCPFCQRLFMILWLKGVKFNVTTVDMTRKPEE
LKDLAPGTNPPFLVYNKELKTDFIKIEEFLEQTLAPPRYPHLSPKYKESFDVGCNLFAKF
SAYIKNTQKEANKNFEKSLLKEFKRLDDYLNTPLLDEIDPDSAEEPPVSRRLFLDGDQLT
LADCSLLPKLNIIKVAAKKYRDFDIPAEFSGVWRYLHNAYAREEFTHTCPEDKEIENTYA
NVAKQKS

Sequence length

247

Interactions

View interactions

	Reactome
			Stimuli-sensing channels Ion homeostasis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CHROMOSOME XQ28 DUPLICATION SYNDROME	—	ClinVar, HPO ClinVar, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLIC2-related disorder	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 32	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED INTELLECTUAL DISABILITY, CARDIOMEGALY, CONGESTIVE HEART FAILURE SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Show/Hide Text Mining Associations (35)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	22814392		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	22814392	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34766585	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	22814392	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	24339868	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	24339868		★★★★★ ★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30929599	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	22814392		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	22814392	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	24700761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	22814392	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	22814392	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	21630357, 22814392, 23871722	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	22814392		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	20864813	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	28862243		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	34032721	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, SYNDROMIC 32	Syndromic Mental Retardation, X-Linked	UNIPROT_DG	22814392		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, SYNDROMIC 32	Syndromic Mental Retardation, X-Linked	GENOMICS_ENGLAND_DG	22814392, 25927380		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, SYNDROMIC 32	Syndromic Mental Retardation, X-Linked	ORPHANET_DG	22814392		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, SYNDROMIC 32	Syndromic Mental Retardation, X-Linked	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, SYNDROMIC 32	Syndromic Mental Retardation, X-Linked	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	22814392	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thymic Carcinoma	Thymic Carcinoma	BEFREE	29645059		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Insufficiency	Tricuspid Valve Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome, X-Linked	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

CLIC2 (chloride intracellular channel 2)