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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1193
Gene name Gene Name - the full gene name approved by the HGNC.	Chloride intracellular channel 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CLIC2
Synonyms (NCBI Gene) Gene synonyms aliases	CLCNL2, CLIC2b, MRXS32, XAP121
Disease Acronyms (UniProt) Disease acronyms from UniProt database	MRXS32
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xq28
Summary Summary of gene provided in NCBI Entrez Gene.	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

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

Show/Hide all(21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004364	Function	Glutathione transferase activity	IDA	15147738
GO:0004602	Function	Glutathione peroxidase activity	IDA	15147738
GO:0005244	Function	Voltage-gated ion channel activity	IEA
GO:0005254	Function	Chloride channel activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	12681486, 32296183
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	TAS	16130169
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	15916532
GO:0005737	Component	Cytoplasm	TAS	16130169
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0006749	Process	Glutathione metabolic process	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	IC	15147738
GO:0034707	Component	Chloride channel complex	IEA
GO:0051099	Process	Positive regulation of binding	IDA	15916532
GO:0060315	Process	Negative regulation of ryanodine-sensitive calcium-release channel activity	IDA	15147738, 15916532
GO:0098869	Process	Cellular oxidant detoxification	IEA
GO:1902476	Process	Chloride transmembrane transport	IEA

MIM	HGNC	e!Ensembl
300138	2063	ENSG00000155962

Protein

UniProt ID

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

Show/Hide Causal Diseases (2)

Disease term	Disease name	dbSNP ID
Causal
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Mitral valve prolapse	Mitral Valve Prolapse Syndrome	rs768737101

Show/Hide Unknown Diseases (3)

Disease term	Disease name	Source
Unknown
Congestive heart failure	Congestive heart failure	ClinVar
Intellectual disability-cardiomegaly-congestive heart failure syndrome, x-linked	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	ClinVar
Neurodevelopmental Disorders	X-linked complex neurodevelopmental disorder	GenCC

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text Mining
Atrial Fibrillation	Associate	22814392
Carcinoma Hepatocellular	Associate	34766585
Cardiomegaly	Associate	22814392
Cardiomyopathy Dilated	Associate	24339868
Channelopathies	Associate	22814392
Colorectal Neoplasms	Associate	30929599
Developmental Disabilities	Associate	22814392
Genetic Diseases Inborn	Associate	29257243
Heart Diseases	Associate	22814392
Heart Failure	Associate	22814392
Intellectual Disability	Associate	21630357, 22814392, 23871722
Liver Cirrhosis Biliary	Associate	20864813
Melanoma	Associate	34032721
Neoplasms	Associate	30929599, 34766585
Seizures	Associate	22814392

CLIC2 (chloride intracellular channel 2)