CLIC2 (chloride intracellular channel 2)

Gene

• Entrez ID: 1193
• Gene name: Chloride intracellular channel 2
• Gene symbol: CLIC2
• Synonyms: CLCNL2, CLIC2b, MRXS32, XAP121
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 300138
• HGNC: 2063
• e!Ensembl: 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

• Sequence:

  MSGLRPGTQVDPEIELFVKAGSDGESIGNCPFCQRLFMILWLKGVKFNVTTVDMTRKPEE
  LKDLAPGTNPPFLVYNKELKTDFIKIEEFLEQTLAPPRYPHLSPKYKESFDVGCNLFAKF
  SAYIKNTQKEANKNFEKSLLKEFKRLDDYLNTPLLDEIDPDSAEEPPVSRRLFLDGDQLT
  LADCSLLPKLNIIKVAAKKYRDFDIPAEFSGVWRYLHNAYAREEFTHTCPEDKEIENTYA
  NVAKQKS

• Sequence length: 247

Pathways

Reactome:

Stimuli-sensing channels
Ion homeostasis

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Mitral valve prolapse	Mitral Valve Prolapse Syndrome	rs768737101

Unknown
Disease name	Disease term	dbSNP ID	References
Acquired kyphoscoliosis	Acquired Kyphoscoliosis
Aortic valve sclerosis	Aortic Valve Stenosis
Congenital kyphoscoliosis	Congenital kyphoscoliosis
Congestive heart failure	Congestive heart failure	rs2301610, rs3833910, rs12301951, rs201674674, rs186741807, rs150140412, rs786205727, rs757840030, rs552050895, rs759465783, rs201978086, rs572757800, rs1572143354, rs749160569
Intellectual disability-cardiomegaly-congestive heart failure syndrome, x-linked	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	rs398122917
Macrotia	Macrotia
Malocclusion	Class III malocclusion
Spastic quadriplegia	Spastic Quadriplegia
Syndromic mental retardation, x-linked	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32		22814392, 25927380
Tricuspid valve insufficiency	Tricuspid Valve Insufficiency