CLIC3

Summary

CLIC3 (CLIC family member 3, HGNC:2064) is a protein-coding gene on chromosome 9q34.3, encoding Chloride intracellular channel protein 3 (O95833). In the soluble state, catalyzes glutaredoxin-like thiol disulfide exchange reactions with reduced glutathione as electron donor.

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. Chloride intracellular channel 3 is a member of the p64 family and is predominantly localized in the nucleus and stimulates chloride ion channel activity. In addition, this protein may participate in cellular growth control, based on its association with ERK7, a member of the MAP kinase family.

Source: NCBI Gene 9022 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 43 total
• MANE Select transcript: NM_004669

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2064
Approved symbol	CLIC3
Name	CLIC family member 3
Location	9q34.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000169583
Ensembl biotype	protein_coding
OMIM	606533
Entrez	9022

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 4 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000473911, ENST00000480181, ENST00000494426, ENST00000856092, ENST00000856093, ENST00000856094

RefSeq mRNA: 1 — MANE Select: NM_004669 NM_004669

CCDS: CCDS7021

Canonical transcript exons

ENST00000494426 — 6 exons

Exon	Start	End
ENSE00000870809	136995648	136995757
ENSE00001897231	136996511	136996568
ENSE00003513694	136994930	136995105
ENSE00003640735	136994608	136994839
ENSE00003672596	136995186	136995292
ENSE00003684595	136995442	136995567

Expression profiles

Bgee: expression breadth ubiquitous, 193 present calls, max score 99.64.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 33.0542 / max 796.1795, expressed in 1006 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
103257	31.8207	972
103253	0.6820	263
103252	0.1685	112
103258	0.1407	75
103255	0.1159	12
103256	0.0477	6
103254	0.0470	20
103259	0.0317	9

Top tissues by expression

281 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	99.64	gold quality
oral cavity	UBERON:0000167	98.16	gold quality
esophagus mucosa	UBERON:0002469	97.98	gold quality
right lobe of thyroid gland	UBERON:0001119	97.67	gold quality
left lobe of thyroid gland	UBERON:0001120	97.52	gold quality
skin of abdomen	UBERON:0001416	97.30	gold quality
skin of leg	UBERON:0001511	96.84	gold quality
thyroid gland	UBERON:0002046	96.54	gold quality
granulocyte	CL:0000094	96.32	gold quality
pharyngeal mucosa	UBERON:0000355	95.92	gold quality
zone of skin	UBERON:0000014	95.53	gold quality
right lung	UBERON:0002167	95.50	gold quality
gingiva	UBERON:0001828	95.32	gold quality
placenta	UBERON:0001987	94.38	gold quality
upper leg skin	UBERON:0004262	94.06	gold quality
gingival epithelium	UBERON:0001949	94.05	gold quality
corpus epididymis	UBERON:0004359	92.83	gold quality
upper lobe of left lung	UBERON:0008952	91.97	gold quality
upper lobe of lung	UBERON:0008948	91.77	gold quality
epithelium of esophagus	UBERON:0001976	90.09	gold quality
mammalian vulva	UBERON:0000997	89.60	gold quality
penis	UBERON:0000989	89.48	gold quality
upper arm skin	UBERON:0004263	89.20	gold quality
esophagus squamous epithelium	UBERON:0006920	88.93	gold quality
vagina	UBERON:0000996	88.51	gold quality
periodontal ligament	UBERON:0008266	87.91	gold quality
amniotic fluid	UBERON:0000173	87.36	gold quality
lower lobe of lung	UBERON:0008949	87.24	silver quality
tongue squamous epithelium	UBERON:0006919	86.64	gold quality
body of tongue	UBERON:0011876	86.28	gold quality

Single-cell (SCXA)

Detected in 16 experiment(s), a significant marker in 15.

Experiment	Marker?	Max mean expression
E-MTAB-8221	yes	5325.50
E-GEOD-130473	yes	320.99
E-HCAD-4	yes	144.88
E-CURD-122	yes	56.17
E-MTAB-6701	yes	45.93
E-HCAD-10	yes	40.19
E-MTAB-9467	yes	39.92
E-CURD-46	yes	24.90
E-CURD-88	yes	24.73
E-MTAB-6678	yes	16.71
E-HCAD-1	yes	15.43
E-MTAB-8498	yes	13.49
E-MTAB-9801	yes	6.39
E-GEOD-130148	yes	5.26
E-CURD-112	no	3.15

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): GATA3

Literature-anchored findings (GeneRIF, showing 10)

• CLIC3 facilitates chloride ion movement and regulates cellular processes associated with the movement of chloride in placental and fetal membrane cells. (PMID:17027078)
• The structure of the soluble form of CLIC3, is presented. (PMID:20146363)
• results suggest that increased expression of chloride intracellular channel 3 (CLIC3) may play a role in abnormal placental function associated with the human pregnancy disorders fetal growth restrict and pre-eclampsia (PMID:22795578)
• CLIC3 controls trafficking of late endosomal MT1-MMP and dictates invasion and metastasis in breast cancer. (PMID:25015290)
• in malignant pleural mesothelioma, the gene expressions of CLIC3 and CLIC4 were significantly increased compared to controls (PMID:26445368)
• CLIC3 is also secreted by cancer cells, is abundant in the stromal and tumour compartments of aggressive ovarian cancers and its levels correlate with poor clinical outcome. (PMID:28198360)
• Pathophysiological properties of CLIC3 chloride channel in human gastric cancer cells. (PMID:32066374)
• Identification of chloride intracellular channels as prognostic factors correlated with immune infiltration in hepatocellular carcinoma using bioinformatics analysis. (PMID:34766585)
• Chloride intercellular channel 3 suppression-mediated macrophage polarization: a potential indicator of poor prognosis of hepatitis B virus-related acute-on-chronic liver failure. (PMID:35238065)
• CLIC3 interacts with NAT10 to inhibit N4-acetylcytidine modification of p21 mRNA and promote bladder cancer progression. (PMID:38182571)

Cross-species orthologs

34 orthologs

Organism	Symbol	Gene ID
danio_rerio	clic3	ENSDARG00000044776
mus_musculus	Clic3	ENSMUSG00000015093
rattus_norvegicus	Clic3	ENSRNOG00000015184
drosophila_melanogaster	GstD1	FBGN0001149
drosophila_melanogaster	GstD2	FBGN0010038
drosophila_melanogaster	GstD3	FBGN0010039
drosophila_melanogaster	GstD4	FBGN0010040
drosophila_melanogaster	GstD5	FBGN0010041
drosophila_melanogaster	GstD6	FBGN0010042
drosophila_melanogaster	GstD7	FBGN0010043
drosophila_melanogaster	GstD8	FBGN0010044
drosophila_melanogaster	GstE12	FBGN0027590
drosophila_melanogaster	Clic	FBGN0030529
drosophila_melanogaster	GstT3	FBGN0031117
drosophila_melanogaster	GstE13	FBGN0033381
drosophila_melanogaster	GstE1	FBGN0034335
drosophila_melanogaster	GstE11	FBGN0034354
drosophila_melanogaster	GstD9	FBGN0038020
drosophila_melanogaster	GstD10	FBGN0042206
drosophila_melanogaster	GstT1	FBGN0050000
drosophila_melanogaster	GstT2	FBGN0050005
drosophila_melanogaster	GstE9	FBGN0063491
drosophila_melanogaster	GstE8	FBGN0063492
drosophila_melanogaster	GstE7	FBGN0063493
drosophila_melanogaster	GstE6	FBGN0063494
drosophila_melanogaster	GstE5	FBGN0063495
drosophila_melanogaster	GstE4	FBGN0063496
drosophila_melanogaster	GstE3	FBGN0063497
drosophila_melanogaster	GstE2	FBGN0063498
drosophila_melanogaster	GstE10	FBGN0063499
caenorhabditis_elegans	exc-4	WBGENE00001365
caenorhabditis_elegans		WBGENE00001371
caenorhabditis_elegans	gst-43	WBGENE00001791
caenorhabditis_elegans		WBGENE00021817

Paralogs (14): GSTO2 (ENSG00000065621), GSTT2 (ENSG00000099984), GSTZ1 (ENSG00000100577), GDAP1 (ENSG00000104381), CLIC5 (ENSG00000112782), GDAP1L1 (ENSG00000124194), GSTT2B (ENSG00000133433), GSTO1 (ENSG00000148834), CLIC2 (ENSG00000155962), CLIC6 (ENSG00000159212), CLIC4 (ENSG00000169504), CLIC1 (ENSG00000213719), EEF1G (ENSG00000254772), GSTT4 (ENSG00000276950)

Protein

Protein identifiers

Chloride intracellular channel protein 3 — O95833 (reviewed: O95833)

Alternative names: Glutaredoxin-like oxidoreductase CLIC3

All UniProt accessions (1): O95833

UniProt curated annotations — full annotation on UniProt →

Function. In the soluble state, catalyzes glutaredoxin-like thiol disulfide exchange reactions with reduced glutathione as electron donor. Reduced in a glutathione-dependent way and secreted into the extracellular matrix where it activates TGM2 and promotes blood vessel growth during tissue remodeling as occurs in tumorigenesis. Can reduce specific cysteines in TGM2 and regulate cofactor binding. Can insert into membranes and form outwardly rectifying chloride ion channels. May participate in cellular growth control.

Subunit / interactions. Associated with the C-terminal of MAPK15.

Subcellular location. Nucleus. Membrane. Cell membrane. Cytoplasm. Secreted. Extracellular space. Extracellular matrix.

Tissue specificity. Detected in placenta (at protein level). Widely expressed. High expression is found in placenta followed by lung and heart. Low expression in skeletal muscle, kidney and pancreas.

Activity regulation. Inhibited by rapamycin, amphotericin B and IAA-94.

Domain organisation. The active G-site contains a dithiol Cys-X-X-Cys motif which mediates glutathione-dependent redox catalysis. Members of this family may change from a globular, soluble state to a state where the N-terminal domain is inserted into the membrane and functions as a chloride channel. The redox status of the active cysteine in Cys-X-X-Cys motif likely determines the capacity to adopt a soluble or membrane-inserted state. A conformation change of the N-terminal domain is thought to expose hydrophobic surfaces that trigger membrane insertion.

Miscellaneous. Overexpression of CLIC3 is associated with cancer pathology; it positively correlates with pancreatic, ovarian and breast cancer prognosis and negatively with gastric cancer prognosis.

Similarity. Belongs to the chloride channel CLIC family.

RefSeq proteins (1): NP_004660* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002946	CLIC	Family
IPR010987	Glutathione-S-Trfase_C-like	Domain
IPR036249	Thioredoxin-like_sf	Homologous_superfamily
IPR036282	Glutathione-S-Trfase_C_sf	Homologous_superfamily
IPR040079	Glutathione_S-Trfase	Family
IPR053823	CLIC_N	Domain

Pfam: PF13410, PF22441

Catalyzed reactions (Rhea), 1 shown:

• chloride(in) = chloride(out) (RHEA:29823)

UniProt features (30 total): helix 11, strand 6, turn 2, domain 2, modified residue 2, chain 1, transmembrane region 1, mutagenesis site 1, region of interest 1, short sequence motif 1, disulfide bond 1, sequence variant 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
3FY7	X-RAY DIFFRACTION	1.95
3KJY	X-RAY DIFFRACTION	1.95

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95833-F1	94.08	0.86

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (2): 49, 159

Disulfide bonds (1): 22–25

Mutagenesis-validated functional residues (1):

Position	Phenotype
22	decreases glutathione-dependent oxidoreductase activity toward tgm2.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 173 (showing top): JAEGER_METASTASIS_DN, PEREZ_TP63_TARGETS, GOBP_POSITIVE_REGULATION_OF_VASCULATURE_DEVELOPMENT, SMID_BREAST_CANCER_RELAPSE_IN_LIVER_UP, GOBP_INORGANIC_ANION_TRANSPORT, GOBP_SPROUTING_ANGIOGENESIS, KIM_RESPONSE_TO_TSA_AND_DECITABINE_UP, GOBP_CHLORIDE_TRANSPORT, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_BLOOD_VESSEL_MORPHOGENESIS, GOBP_POSITIVE_REGULATION_OF_SPROUTING_ANGIOGENESIS, FUJII_YBX1_TARGETS_UP, GOBP_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS, LEE_AGING_CEREBELLUM_DN, GOBP_REGULATION_OF_SPROUTING_ANGIOGENESIS

GO Biological Process (6): chloride transport (GO:0006821), signal transduction (GO:0007165), positive regulation of sprouting angiogenesis (GO:1903672), monoatomic ion transport (GO:0006811), monoatomic ion transmembrane transport (GO:0034220), chloride transmembrane transport (GO:1902476)

GO Molecular Function (4): chloride channel activity (GO:0005254), protein-disulfide reductase (glutathione) activity (GO:0019153), protein binding (GO:0005515), oxidoreductase activity (GO:0016491)

GO Cellular Component (10): nucleus (GO:0005634), cytoplasm (GO:0005737), plasma membrane (GO:0005886), membrane (GO:0016020), nuclear body (GO:0016604), extracellular matrix (GO:0031012), chloride channel complex (GO:0034707), extracellular exosome (GO:0070062), extracellular region (GO:0005576), monoatomic ion channel complex (GO:0034702)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
monoatomic anion transport	1
inorganic anion transport	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
sprouting angiogenesis	1
positive regulation of angiogenesis	1
regulation of sprouting angiogenesis	1
transport	1
monoatomic ion transport	1
transmembrane transport	1
chloride transport	1
monoatomic anion transmembrane transport	1
monoatomic anion channel activity	1
chloride transmembrane transporter activity	1
protein-disulfide reductase activity	1
oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor	1
binding	1
catalytic activity	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
membrane	1
cell periphery	1
nucleoplasm	1
intracellular membraneless organelle	1
external encapsulating structure	1
monoatomic ion channel complex	1
extracellular vesicle	1
transmembrane transporter complex	1

Protein interactions and networks

STRING

770 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CLIC3	MAPK15	Q8TD08	969
CLIC3	RAB25	P57735	582
CLIC3	EZR	P15311	562
CLIC3	VSIG4	Q9Y279	518
CLIC3	SNX17	Q15036	460
CLIC3	PTDSS1	P48651	449
CLIC3	CRABP2	P29373	432
CLIC3	NEK9	Q8TD19	430
CLIC3	LCNL1	Q6ZST4	361
CLIC3	RFTN2	Q52LD8	346
CLIC3	TMEM141	Q96I45	339
CLIC3	GIPC1	O14908	328
CLIC3	CLCA1	A8K7I4	327
CLIC3	RAB11FIP1	Q6WKZ4	326
CLIC3	RAB21	Q9UL25	321

IntAct

116 interactions, top by confidence:

A	B	Type	Score
CLIC3	EFHC2	psi-mi:“MI:0915”(physical association)	0.670
EFHC2	CLIC3	psi-mi:“MI:0915”(physical association)	0.670
CLIC3	ZNF620	psi-mi:“MI:0915”(physical association)	0.560
CLIC3	MBD3L1	psi-mi:“MI:0915”(physical association)	0.560
CLIC3	MECOM	psi-mi:“MI:0915”(physical association)	0.560
CLIC3	ZC2HC1C	psi-mi:“MI:0915”(physical association)	0.560
CLIC3	CIMIP2B	psi-mi:“MI:0915”(physical association)	0.560
CLIC3	PROSER2	psi-mi:“MI:0915”(physical association)	0.560
CLIC3	GLYR1	psi-mi:“MI:0915”(physical association)	0.560
CLIC3	INCA1	psi-mi:“MI:0915”(physical association)	0.560
CLIC3	KATNBL1	psi-mi:“MI:0915”(physical association)	0.560
CLIC3	ALX1	psi-mi:“MI:0915”(physical association)	0.560
CLIC3	SPMIP6	psi-mi:“MI:0915”(physical association)	0.560
CLIC3	KRTAP13-3	psi-mi:“MI:0915”(physical association)	0.560
CLIC3	MIA3	psi-mi:“MI:0915”(physical association)	0.560
CLIC3	AGR2	psi-mi:“MI:0915”(physical association)	0.560
CLIC3	SPMIP4	psi-mi:“MI:0915”(physical association)	0.560
CLIC3	DDIT4L	psi-mi:“MI:0915”(physical association)	0.560
CLIC3	MSX2	psi-mi:“MI:0915”(physical association)	0.560
CLIC3	VPS4A	psi-mi:“MI:0915”(physical association)	0.560
CLIC3	KRT85	psi-mi:“MI:0915”(physical association)	0.560
ZBTB42	CLIC3	psi-mi:“MI:0915”(physical association)	0.560
TBC1D3F	CLIC3	psi-mi:“MI:0915”(physical association)	0.560
CLIC3	ANKRD55	psi-mi:“MI:0915”(physical association)	0.560
CLIC3	TLE5	psi-mi:“MI:0915”(physical association)	0.560
CLIC3	ANKRD23	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (64): EFHC2 (Two-hybrid), CLIC3 (Co-fractionation), CLIC3 (Co-fractionation), CLIC3 (Co-fractionation), SEPHS2 (Co-fractionation), CLIC3 (Affinity Capture-MS), CLIC3 (Proximity Label-MS), CLIC3 (Two-hybrid), CLIC3 (Two-hybrid), CLIC3 (Two-hybrid), CLIC3 (Two-hybrid), CLIC3 (Two-hybrid), CLIC3 (Two-hybrid), CLIC3 (Two-hybrid), CLIC3 (Two-hybrid)

ESM2 similar proteins: A0A0H3CDY2, O80662, O86043, O95833, P0A9D2, P0A9D3, P0AC59, P0AC60, P0AC61, P0ACA1, P0ACA2, P0ACA3, P0ACA4, P0ACA5, P0ACA6, P0ACA7, P0ACA8, P0ACA9, P15214, P30347, P31784, P44521, P45207, P45875, P49304, P50472, P76117, P77544, P81065, P82998, P94407, Q03520, Q12390, Q44571, Q476K0, Q51948, Q52828, Q52915, Q7VLK4, Q83AY0

Diamond homologs: O00299, O15247, O95833, P35526, Q29238, Q5E9B7, Q5M883, Q5R957, Q6MG61, Q811Q2, Q8BHB9, Q8BXK9, Q95MF9, Q96NY7, Q9D7P7, Q9EPT8, Q9N2G5, Q9NZA1, Q9QYB1, Q9XSA7, Q9Y696, Q9Z0W7, Q9Z1Q5, O45405, Q9VY78, P81124, A2XMN2, A6QQZ0, A8XT16, F4IA73, O09131, O43708, O88741, P0ACA3, P0ACA4, P0ACA5, P0ACA6, P28342, P30347, P31784

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

43 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	37
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

826 predictions. Top by Δscore:

Variant	Effect	Δscore
9:136994836:CCGT:C	acceptor_gain	1.0000
9:136994837:CGTC:C	acceptor_gain	1.0000
9:136994919:T:TA	donor_gain	1.0000
9:136994928:A:AC	donor_gain	1.0000
9:136994929:C:CC	donor_gain	1.0000
9:136994929:CGT:C	donor_gain	1.0000
9:136994931:TCG:T	donor_gain	1.0000
9:136995101:CAGGG:C	acceptor_gain	1.0000
9:136995106:C:CC	acceptor_gain	1.0000
9:136995182:T:TA	donor_gain	1.0000
9:136995184:ACCTT:A	donor_loss	1.0000
9:136995185:C:A	donor_loss	1.0000
9:136995188:T:A	donor_gain	1.0000
9:136995191:T:TA	donor_gain	1.0000
9:136995288:GGAAG:G	acceptor_gain	1.0000
9:136995289:GAAG:G	acceptor_gain	1.0000
9:136995290:AAG:A	acceptor_gain	1.0000
9:136995291:AG:A	acceptor_gain	1.0000
9:136995293:C:CC	acceptor_gain	1.0000
9:136995297:G:T	acceptor_gain	1.0000
9:136995300:A:AC	acceptor_gain	1.0000
9:136995300:A:C	acceptor_gain	1.0000
9:136995438:T:A	donor_gain	1.0000
9:136995438:TCACT:T	donor_loss	1.0000
9:136995439:CACT:C	donor_loss	1.0000
9:136995440:A:AC	donor_gain	1.0000
9:136995441:C:CT	donor_gain	1.0000
9:136995441:CT:C	donor_gain	1.0000
9:136995460:T:TA	donor_gain	1.0000
9:136995463:T:TA	donor_gain	1.0000

AlphaMissense

1534 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:136995674:G:C	F39L	0.989
9:136995674:G:T	F39L	0.989
9:136995676:A:G	F39L	0.989
9:136994747:G:C	F215L	0.988
9:136994747:G:T	F215L	0.988
9:136994749:A:G	F215L	0.988
9:136995235:G:C	F109L	0.988
9:136995235:G:T	F109L	0.988
9:136995237:A:G	F109L	0.988
9:136994934:A:T	V183D	0.987
9:136995686:C:A	K35N	0.986
9:136995686:C:G	K35N	0.986
9:136995226:G:C	F112L	0.985
9:136995226:G:T	F112L	0.985
9:136995228:A:G	F112L	0.985
9:136994993:G:C	F163L	0.984
9:136994993:G:T	F163L	0.984
9:136994995:A:G	F163L	0.984
9:136995523:G:T	P63H	0.982
9:136996515:A:T	V10D	0.980
9:136994779:A:C	Y205D	0.978
9:136996517:A:C	F9L	0.978
9:136996517:A:T	F9L	0.978
9:136996519:A:G	F9L	0.978
9:136994739:G:T	T218K	0.977
9:136994960:G:C	C174W	0.977
9:136994994:A:G	F163S	0.976
9:136995227:A:G	F112S	0.976
9:136995675:A:G	F39S	0.976
9:136995716:G:C	C25W	0.975

dbSNP variants (sampled 300 via entrez): RS1000031872 (9:136994144 G>A), RS1001006176 (9:136995137 C>A,T), RS1001786088 (9:136997998 G>A,T), RS1003868899 (9:136996716 G>C), RS1005406799 (9:136997909 A>G), RS1005470489 (9:136997370 C>G), RS1005768554 (9:136997691 C>T), RS1005814757 (9:136996036 A>C), RS1006641129 (9:136996996 C>T), RS1006691812 (9:136998481 G>A,T), RS1006935903 (9:136997279 C>G), RS1008780911 (9:136997416 C>T), RS1010143487 (9:136998490 C>T), RS1010853895 (9:136996593 A>G,T), RS1011828426 (9:136997439 T>C)

Disease associations

OMIM: gene MIM:606533 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

60 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Estradiol	decreases reaction, increases expression, decreases expression, affects cotreatment	4
Tobacco Smoke Pollution	affects expression, decreases expression	3
Cyclosporine	decreases expression	3
sodium arsenite	increases expression	2
(+)-JQ1 compound	decreases expression, increases expression	2
Air Pollutants	decreases expression, increases abundance	2
Smoke	increases abundance, decreases expression	2
Tetrachlorodibenzodioxin	increases expression	2
8-Bromo Cyclic Adenosine Monophosphate	increases expression, affects cotreatment	2
GSK-J4	decreases expression	1
afuresertib	increases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	increases expression	1
bisphenol A	decreases expression	1
deoxynivalenol	decreases expression	1
potassium perchlorate	decreases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, decreases expression	1
decabromobiphenyl ether	decreases expression	1
afimoxifene	increases expression	1
sulforaphane	decreases expression	1
butyraldehyde	increases expression	1
zinc chromate	decreases expression, increases abundance	1
potassium chromate(VI)	increases expression	1
cupric chloride	decreases expression	1
hydroquinone	increases expression	1
4-aminophenylarsenoxide	affects binding, decreases reaction	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
entinostat	increases expression	1
pentabrominated diphenyl ether 100	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.