DUSP7

Summary

DUSP7 (dual specificity phosphatase 7, HGNC:3073) is a protein-coding gene on chromosome 3p21.2, encoding Dual specificity protein phosphatase 7 (Q16829). Dual specificity protein phosphatase.

Dual-specificity phosphatases (DUSPs) constitute a large heterogeneous subgroup of the type I cysteine-based protein-tyrosine phosphatase superfamily. DUSPs are characterized by their ability to dephosphorylate both tyrosine and serine/threonine residues. DUSP7 belongs to a class of DUSPs, designated MKPs, that dephosphorylate MAPK (mitogen-activated protein kinase) proteins ERK (see MIM 601795), JNK (see MIM 601158), and p38 (see MIM 600289) with specificity distinct from that of individual MKP proteins. MKPs contain a highly conserved C-terminal catalytic domain and an N-terminal Cdc25 (see MIM 116947)-like (CH2) domain. MAPK activation cascades mediate various physiologic processes, including cellular proliferation, apoptosis, differentiation, and stress responses (summary by Patterson et al., 2009 [PubMed 19228121]).

Source: NCBI Gene 1849 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 47 total
• MANE Select transcript: NM_001947

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3073
Approved symbol	DUSP7
Name	dual specificity phosphatase 7
Location	3p21.2
Locus type	gene with protein product
Status	Approved
Aliases	MKP-X, PYST2
Ensembl gene	ENSG00000164086
Ensembl biotype	protein_coding
OMIM	602749
Entrez	1849

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000469623, ENST00000495880

RefSeq mRNA: 1 — MANE Select: NM_001947 NM_001947

CCDS: CCDS33766

Canonical transcript exons

ENST00000495880 — 3 exons

Exon	Start	End
ENSE00001849582	52048919	52051122
ENSE00001861478	52055850	52056571
ENSE00002304140	52053940	52054374

Expression profiles

Bgee: expression breadth ubiquitous, 286 present calls, max score 97.22.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.5501 / max 325.6449, expressed in 1750 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
42401	6.9237	1664
42398	1.7069	926
42395	1.1435	543
42400	1.1360	578
42396	0.3055	130
42399	0.2256	69
42397	0.1088	27

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	97.22	gold quality
gingival epithelium	UBERON:0001949	96.71	gold quality
gingiva	UBERON:0001828	96.11	gold quality
tongue squamous epithelium	UBERON:0006919	95.81	gold quality
penis	UBERON:0000989	95.21	gold quality
nipple	UBERON:0002030	95.21	gold quality
upper leg skin	UBERON:0004262	94.58	gold quality
pharyngeal mucosa	UBERON:0000355	94.26	gold quality
mammalian vulva	UBERON:0000997	94.14	gold quality
secondary oocyte	CL:0000655	94.12	gold quality
lower esophagus mucosa	UBERON:0035834	93.56	gold quality
cervix epithelium	UBERON:0004801	93.28	gold quality
skin of abdomen	UBERON:0001416	93.06	gold quality
upper arm skin	UBERON:0004263	92.78	gold quality
esophagus mucosa	UBERON:0002469	92.65	gold quality
hair follicle	UBERON:0002073	92.59	gold quality
skin of hip	UBERON:0001554	92.10	gold quality
cervix squamous epithelium	UBERON:0006922	91.59	gold quality
squamous epithelium	UBERON:0006914	91.54	gold quality
zone of skin	UBERON:0000014	91.50	gold quality
occipital lobe	UBERON:0002021	90.92	gold quality
skin of leg	UBERON:0001511	90.80	gold quality
primary visual cortex	UBERON:0002436	90.79	gold quality
inferior vagus X ganglion	UBERON:0005363	90.72	gold quality
body of tongue	UBERON:0011876	90.65	gold quality
vagina	UBERON:0000996	90.45	gold quality
orbitofrontal cortex	UBERON:0004167	90.14	gold quality
middle temporal gyrus	UBERON:0002771	90.03	gold quality
descending thoracic aorta	UBERON:0002345	89.41	gold quality
Brodmann (1909) area 46	UBERON:0006483	89.34	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): SPI1

miRNA regulators (miRDB)

159 targeting DUSP7, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-548N	99.98	71.94	4170
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788

Literature-anchored findings (GeneRIF, showing 6)

• high levels of Pyst2-L detected in the active state of AML and ALL diseases and in other types of cancer reflect an altered MAPK signaling pathway in such malignant processes (PMID:14576828)
• overexpressed in acute myelogenous leukemia (PMID:14674243)
• While the low expression level of DUSP7 was restricted to patients with positive rheumatoid factor and anti-citrullinated protein antibodies, the altered expression of CDC25B correlated with the activity of early arthritis. (PMID:28253537)
• DUSP7 regulates the activity of ERK2 to promote proper chromosome alignment during cell division. (PMID:33865857)
• DUSP7 inhibits cervical cancer progression by inactivating the RAS pathway. (PMID:34435746)
• Transcription Factor FOSL1 Enhances Drug Resistance of Breast Cancer through DUSP7-Mediated Dephosphorylation of PEA15. (PMID:34907034)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	dusp7	ENSDARG00000101413
mus_musculus	Dusp7	ENSMUSG00000053716
rattus_norvegicus	Dusp7	ENSRNOG00000010789

Paralogs (31): DUSP13B (ENSG00000079393), DUSP12 (ENSG00000081721), SSH1 (ENSG00000084112), DUSP3 (ENSG00000108861), PTPMT1 (ENSG00000110536), DUSP16 (ENSG00000111266), EPM2A (ENSG00000112425), DUSP22 (ENSG00000112679), DUSP1 (ENSG00000120129), DUSP4 (ENSG00000120875), STYXL1 (ENSG00000127952), DUSP9 (ENSG00000130829), DUSP26 (ENSG00000133878), DUSP5 (ENSG00000138166), DUSP6 (ENSG00000139318), SSH2 (ENSG00000141298), DUSP10 (ENSG00000143507), DUSP15 (ENSG00000149599), DUSP2 (ENSG00000158050), KASH5 (ENSG00000161609), DUSP19 (ENSG00000162999), DUSP18 (ENSG00000167065), SSH3 (ENSG00000172830), DUSP8 (ENSG00000184545), DUSP28 (ENSG00000188542), DUSP29 (ENSG00000188716), DUSP21 (ENSG00000189037), STYX (ENSG00000198252), STYXL2 (ENSG00000198842), DUSP14 (ENSG00000276023), DUSP13A (ENSG00000293543)

Protein

Protein identifiers

Dual specificity protein phosphatase 7 — Q16829 (reviewed: Q16829)

Alternative names: Dual specificity protein phosphatase PYST2

All UniProt accessions (2): Q16829, H7C4Z0

UniProt curated annotations — full annotation on UniProt →

Function. Dual specificity protein phosphatase. Shows high activity towards MAPK1/ERK2. Also has lower activity towards MAPK14 and MAPK8. In arrested oocytes, plays a role in meiotic resumption. Promotes nuclear envelope breakdown and activation of the CDK1/Cyclin-B complex in oocytes, probably by dephosphorylating and inactivating the conventional protein kinase C (cPKC) isozyme PRKCB. May also inactivate PRKCA and/or PRKCG. Also important in oocytes for normal chromosome alignment on the metaphase plate and progression to anaphase, where it might regulate activity of the spindle-assembly checkpoint (SAC) complex.

Subunit / interactions. Interacts with MAPK1/ERK2; the interaction enhances DUSP7 phosphatase activity.

Subcellular location. Cytoplasm.

Tissue specificity. Strongly expressed in liver. Expressed at significantly higher levels in malignant hematopoietic cells than in corresponding non-malignant cells.

Activity regulation. Strongly inhibited by sodium orthovanadate.

Similarity. Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q16829-1	1, PYST2-L	yes
Q16829-2	2, PYST2-S

RefSeq proteins (1): NP_001938* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000340	Dual-sp_phosphatase_cat-dom	Domain
IPR000387	Tyr_Pase_dom	Domain
IPR001763	Rhodanese-like_dom	Domain
IPR008343	MKP	Family
IPR020422	TYR_PHOSPHATASE_DUAL_dom	Domain
IPR029021	Prot-tyrosine_phosphatase-like	Homologous_superfamily
IPR036873	Rhodanese-like_dom_sf	Homologous_superfamily

Pfam: PF00581, PF00782

Catalyzed reactions (Rhea), 3 shown:

• O-phospho-L-tyrosyl-[protein] + H2O = L-tyrosyl-[protein] + phosphate (RHEA:10684)
• O-phospho-L-seryl-[protein] + H2O = L-seryl-[protein] + phosphate (RHEA:20629)
• O-phospho-L-threonyl-[protein] + H2O = L-threonyl-[protein] + phosphate (RHEA:47004)

UniProt features (28 total): strand 8, helix 7, compositionally biased region 3, domain 2, region of interest 2, chain 1, splice variant 1, sequence variant 1, sequence conflict 1, active site 1, binding site 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
4Y2E	X-RAY DIFFRACTION	1.67

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q16829-F1	76.02	0.39

Functional residue map

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

Catalytic / active sites (1): 331 (phosphocysteine intermediate)

Ligand- & substrate-binding residues (1): 331–337

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-112409	RAF-independent MAPK1/3 activation
R-HSA-202670	ERKs are inactivated
R-HSA-5675221	Negative regulation of MAPK pathway
R-HSA-9652817	Signaling by MAPK mutants

MSigDB gene sets: 299 (showing top): GOBP_NEGATIVE_REGULATION_OF_MAP_KINASE_ACTIVITY, GOBP_NEGATIVE_REGULATION_OF_ERK1_AND_ERK2_CASCADE, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_REGULATION_OF_PHOSPHORYLATION, GOBP_NEGATIVE_REGULATION_OF_KINASE_ACTIVITY, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, JAEGER_METASTASIS_DN, KEGG_MAPK_SIGNALING_PATHWAY, GOBP_REGULATION_OF_TRANSFERASE_ACTIVITY, BROWNE_HCMV_INFECTION_16HR_UP, GOBP_NEGATIVE_REGULATION_OF_MAPK_CASCADE, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, PUJANA_CHEK2_PCC_NETWORK, WANG_ESOPHAGUS_CANCER_VS_NORMAL_DN

GO Biological Process (9): MAPK cascade (GO:0000165), signal transduction (GO:0007165), peptidyl-tyrosine dephosphorylation (GO:0035335), negative regulation of MAP kinase activity (GO:0043407), ERK1 and ERK2 cascade (GO:0070371), negative regulation of ERK1 and ERK2 cascade (GO:0070373), protein dephosphorylation (GO:0006470), dephosphorylation (GO:0016311), negative regulation of MAPK cascade (GO:0043409)

GO Molecular Function (9): protein serine/threonine phosphatase activity (GO:0004722), protein tyrosine phosphatase activity (GO:0004725), protein tyrosine/serine/threonine phosphatase activity (GO:0008138), protein tyrosine/threonine phosphatase activity (GO:0008330), MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017), MAP kinase tyrosine phosphatase activity (GO:0033550), phosphoprotein phosphatase activity (GO:0004721), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (3): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
MAPK1/MAPK3 signaling	1
ERK/MAPK targets	1
RAF/MAP kinase cascade	1
Oncogenic MAPK signaling	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
phosphoprotein phosphatase activity	4
cellular anatomical structure	3
negative regulation of MAPK cascade	2
MAPK cascade	2
MAP kinase phosphatase activity	2
intracellular signaling cassette	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
protein dephosphorylation	1
MAP kinase activity	1
regulation of MAP kinase activity	1
negative regulation of protein serine/threonine kinase activity	1
ERK1 and ERK2 cascade	1
regulation of ERK1 and ERK2 cascade	1
dephosphorylation	1
protein modification process	1
phosphate-containing compound metabolic process	1
regulation of MAPK cascade	1
negative regulation of intracellular signal transduction	1
protein tyrosine/serine/threonine phosphatase activity	1
protein tyrosine phosphatase activity	1
phosphatase activity	1
catalytic activity, acting on a protein	1
binding	1
catalytic activity	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasm	1

Protein interactions and networks

STRING

1058 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DUSP7	DUSP8	Q13202	532
DUSP7	DUSP16	Q9BY84	526
DUSP7	DUSP10	Q9Y6W6	484
DUSP7	TMEM165	Q9HC07	466
DUSP7	STT3A	P46977	451
DUSP7	ALG1	Q9BT22	447
DUSP7	SKIC3	Q6PGP7	441
DUSP7	CAMK2N2	Q96S95	437
DUSP7	UNKL	Q9H9P5	437
DUSP7	SKIC2	Q15477	427
DUSP7	DUSP22	Q9NRW4	424
DUSP7	PTPN7	P35236	414
DUSP7	FAM171A1	Q5VUB5	414
DUSP7	DUSP9	Q99956	408
DUSP7	GRXCR1	A8MXD5	406

IntAct

24 interactions, top by confidence:

A	B	Type	Score
MAPK14	DUSP7	psi-mi:“MI:0203”(dephosphorylation reaction)	0.590
DUSP7	MAPK1	psi-mi:“MI:0203”(dephosphorylation reaction)	0.590
DUSP7	GHR	psi-mi:“MI:0407”(direct interaction)	0.560
DUSP7	GHR	psi-mi:“MI:0203”(dephosphorylation reaction)	0.560
EGLN3	DUSP7	psi-mi:“MI:0915”(physical association)	0.560
DUSP7	EGLN3	psi-mi:“MI:0915”(physical association)	0.560
IL16	DUSP7	psi-mi:“MI:0915”(physical association)	0.560
SPOP	DUSP7	psi-mi:“MI:0915”(physical association)	0.540
DUSP7		psi-mi:“MI:0220”(ubiquitination reaction)	0.440
CFTR	DUSP7	psi-mi:“MI:0915”(physical association)	0.370
EEF1A1	DUSP7	psi-mi:“MI:0915”(physical association)	0.370
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
DUSP7	MYO1C	psi-mi:“MI:0914”(association)	0.350
MAPK3	HMMR	psi-mi:“MI:0914”(association)	0.350
MAPK14	PRKY	psi-mi:“MI:0914”(association)	0.350
MAPK1	SPAG9	psi-mi:“MI:0914”(association)	0.350
DUSP7	CDK18	psi-mi:“MI:0914”(association)	0.350
IL16	DUSP7	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (86): DUSP9 (Affinity Capture-MS), NEFH (Affinity Capture-MS), CDK18 (Affinity Capture-MS), DUSP7 (Affinity Capture-MS), DUSP7 (Affinity Capture-MS), SPOP (Affinity Capture-Western), DUSP7 (Affinity Capture-MS), DUSP7 (Affinity Capture-MS), DUSP7 (Affinity Capture-MS), DUSP9 (Affinity Capture-MS), DUSP7 (Affinity Capture-MS), CDK18 (Affinity Capture-MS), DUSP7 (Affinity Capture-MS), GPI (Affinity Capture-MS), TPM4 (Affinity Capture-MS)

ESM2 similar proteins: O43304, O54838, O75038, O95382, P0C591, P0C592, P0C594, P0C595, P0C596, P28562, P28563, Q05922, Q05923, Q13115, Q14451, Q16690, Q16828, Q16829, Q17QJ3, Q2KJ36, Q4RQD3, Q561R2, Q5FVI9, Q5R6H6, Q60806, Q61152, Q62767, Q63340, Q64346, Q64623, Q68J44, Q6B8I0, Q6PAT0, Q8BFV3, Q8BK84, Q90W58, Q91790, Q91Z46, Q99952, Q99956

Diamond homologs: A4IHU7, F1QWM2, O09112, O13632, O55737, O95147, P0C591, P0C592, P0C593, P0C594, P0C595, P0C596, P0C597, P0C598, P0C599, P0C5A0, P0C5A1, P0C5A2, P28562, P28563, P51452, Q05922, Q13115, Q13202, Q148W8, Q16828, Q16829, Q17QJ3, Q17QM8, Q1LWL2, Q29RA3, Q2KJ36, Q39491, Q4KL92, Q4RQD3, Q4V7N3, Q54T76, Q54Y32, Q556Y8, Q55BI8

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
DUSP7	down-regulates	GHR	dephosphorylation
DUSP7	down-regulates	MAPK14	dephosphorylation
DUSP7	down-regulates	MAPK1	dephosphorylation
DUSP7	“down-regulates activity”	GHR	dephosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

47 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

376 predictions. Top by Δscore:

Variant	Effect	Δscore
3:52051120:CGT:C	acceptor_gain	1.0000
3:52051123:C:CC	acceptor_gain	1.0000
3:52053936:CTA:C	donor_loss	1.0000
3:52053937:TA:T	donor_loss	1.0000
3:52053938:A:AC	donor_gain	1.0000
3:52053938:A:C	donor_loss	1.0000
3:52053939:C:CC	donor_gain	1.0000
3:52055845:CTCA:C	donor_loss	1.0000
3:52055846:TCAC:T	donor_loss	1.0000
3:52055847:CACCT:C	donor_loss	1.0000
3:52051118:TTCGT:T	acceptor_gain	0.9900
3:52051119:TCGT:T	acceptor_gain	0.9900
3:52051120:CGTC:C	acceptor_gain	0.9900
3:52051122:TCTG:T	acceptor_loss	0.9900
3:52053939:CCA:C	donor_gain	0.9900
3:52053939:CCAA:C	donor_gain	0.9900
3:52054371:CCAC:C	acceptor_gain	0.9900
3:52054372:CACC:C	acceptor_gain	0.9900
3:52054373:ACC:A	acceptor_loss	0.9900
3:52055844:CCTCA:C	donor_loss	0.9900
3:52051121:GTCT:G	acceptor_gain	0.9800
3:52052381:T:TA	donor_gain	0.9800
3:52054372:CAC:C	acceptor_gain	0.9800
3:52054382:C:CT	acceptor_gain	0.9800
3:52054382:C:T	acceptor_gain	0.9800
3:52053937:TAC:T	donor_gain	0.9700
3:52053938:A:G	donor_gain	0.9700
3:52053938:AC:A	donor_gain	0.9700
3:52053939:C:T	donor_gain	0.9700
3:52053939:CC:C	donor_gain	0.9700

AlphaMissense

2719 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:52050930:T:A	E382V	1.000
3:52050933:A:G	F381S	1.000
3:52050939:A:G	L379P	1.000
3:52050942:A:C	L378R	1.000
3:52050942:A:G	L378P	1.000
3:52050942:A:T	L378Q	1.000
3:52050944:C:A	Q377H	1.000
3:52050944:C:G	Q377H	1.000
3:52050945:T:G	Q377P	1.000
3:52050948:C:A	G376V	1.000
3:52050948:C:T	G376E	1.000
3:52050949:C:A	G376W	1.000
3:52050949:C:G	G376R	1.000
3:52050949:C:T	G376R	1.000
3:52050950:C:A	M375I	1.000
3:52050950:C:G	M375I	1.000
3:52050950:C:T	M375I	1.000
3:52050951:A:G	M375T	1.000
3:52050951:A:T	M375K	1.000
3:52050953:G:C	F374L	1.000
3:52050953:G:T	F374L	1.000
3:52050954:A:C	F374C	1.000
3:52050954:A:G	F374S	1.000
3:52050955:A:C	F374V	1.000
3:52050955:A:G	F374L	1.000
3:52050955:A:T	F374I	1.000
3:52050959:G:C	F372L	1.000
3:52050959:G:T	F372L	1.000
3:52050960:A:G	F372S	1.000
3:52050961:A:G	F372L	1.000

dbSNP variants (sampled 300 via entrez): RS1000349886 (3:52056935 G>A), RS1000506427 (3:52053957 T>C), RS1000876973 (3:52053754 A>G,T), RS1001350503 (3:52050804 T>G), RS1001485135 (3:52057494 C>A), RS1001852454 (3:52057255 G>C), RS1002139388 (3:52055120 C>T), RS1002350147 (3:52049419 T>A), RS1002841446 (3:52058546 C>T), RS1002912895 (3:52058313 T>G), RS1002966768 (3:52052502 G>A), RS1002997702 (3:52052864 C>T), RS1003246541 (3:52054180 G>A), RS1003429125 (3:52052254 G>A), RS1004467067 (3:52053234 A>T)

Disease associations

OMIM: gene MIM:602749 | 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

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	3
Benzo(a)pyrene	increases expression, affects methylation	2
Valproic Acid	decreases expression, increases methylation	2
aristolochic acid I	decreases expression	1
dicrotophos	increases expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
cobaltous chloride	decreases expression	1
potassium chromate(VI)	affects cotreatment, increases expression	1
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, increases expression	1
di-n-butylphosphoric acid	affects expression	1
2-palmitoylglycerol	increases expression	1
abrine	decreases expression	1
licochalcone B	increases expression	1
Sunitinib	increases expression	1
Arsenic Trioxide	decreases expression	1
Acetaminophen	increases expression	1
Acrolein	decreases expression, increases abundance, affects cotreatment	1
Air Pollutants	affects cotreatment, decreases expression, increases abundance	1
Air Pollutants, Occupational	decreases expression	1
Ampicillin	increases expression	1
Calcitriol	decreases expression, affects cotreatment	1
Cisplatin	decreases expression	1
Diazinon	increases methylation	1
Doxorubicin	decreases expression	1
Estradiol	increases expression	1
Folic Acid	decreases expression	1
Lipopolysaccharides	decreases expression, affects response to substance, increases expression, affects cotreatment	1
Nickel	decreases expression	1

Clinical trials (associated diseases)

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