DUSP19

Summary

DUSP19 (dual specificity phosphatase 19, HGNC:18894) is a protein-coding gene on chromosome 2q32.1, encoding Dual specificity protein phosphatase 19 (Q8WTR2). Has a dual specificity toward Ser/Thr and Tyr-containing proteins.

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. They have been implicated as major modulators of critical signaling pathways. DUSP19 contains a variation of the consensus DUSP C-terminal catalytic domain, with the last serine residue replaced by alanine, and lacks the N-terminal CH2 domain found in the MKP (mitogen-activated protein kinase phosphatase) class of DUSPs (see MIM 600714) (summary by Patterson et al., 2009 [PubMed 19228121]).

Source: NCBI Gene 142679 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 66 total — 1 pathogenic
• MANE Select transcript: NM_080876

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18894
Approved symbol	DUSP19
Name	dual specificity phosphatase 19
Location	2q32.1
Locus type	gene with protein product
Status	Approved
Aliases	SKRP1, DUSP17
Ensembl gene	ENSG00000162999
Ensembl biotype	protein_coding
OMIM	611437
Entrez	142679

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000342619, ENST00000354221, ENST00000469344

RefSeq mRNA: 3 — MANE Select: NM_080876 NM_001142314, NM_001321519, NM_080876

CCDS: CCDS2289, CCDS46469

Canonical transcript exons

ENST00000354221 — 4 exons

Exon	Start	End
ENSE00001070494	183087040	183087192
ENSE00001440996	183095431	183100008
ENSE00001836647	183078747	183079159
ENSE00003693322	183083508	183083554

Expression profiles

Bgee: expression breadth ubiquitous, 178 present calls, max score 93.78.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.1010 / max 129.1825, expressed in 1293 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
24062	1.6660	935
24063	1.4350	684

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	93.78	gold quality
secondary oocyte	CL:0000655	90.99	gold quality
buccal mucosa cell	CL:0002336	84.44	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	80.98	gold quality
bronchial epithelial cell	CL:0002328	79.01	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.33	gold quality
bronchus	UBERON:0002185	77.28	gold quality
oviduct epithelium	UBERON:0004804	75.02	gold quality
islet of Langerhans	UBERON:0000006	73.93	gold quality
descending thoracic aorta	UBERON:0002345	72.96	gold quality
mucosa of paranasal sinus	UBERON:0005030	72.69	gold quality
cortical plate	UBERON:0005343	71.61	gold quality
ventricular zone	UBERON:0003053	70.83	gold quality
thoracic aorta	UBERON:0001515	70.60	gold quality
aorta	UBERON:0000947	70.32	gold quality
adrenal tissue	UBERON:0018303	70.32	gold quality
ascending aorta	UBERON:0001496	70.31	gold quality
popliteal artery	UBERON:0002250	70.28	gold quality
right coronary artery	UBERON:0001625	70.27	gold quality
tibial artery	UBERON:0007610	70.21	gold quality
smooth muscle tissue	UBERON:0001135	69.85	gold quality
stromal cell of endometrium	CL:0002255	69.18	gold quality
left coronary artery	UBERON:0001626	69.18	gold quality
sperm	CL:0000019	68.94	gold quality
fallopian tube	UBERON:0003889	68.77	gold quality
prefrontal cortex	UBERON:0000451	68.51	gold quality
ganglionic eminence	UBERON:0004023	68.19	gold quality
body of stomach	UBERON:0001161	68.10	gold quality
heart left ventricle	UBERON:0002084	67.96	gold quality
coronary artery	UBERON:0001621	67.70	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	5.03

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

164 targeting DUSP19, 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-3613-3P	100.00	76.36	7965
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-548N	99.98	71.94	4170
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-548AJ-3P	99.96	73.38	5345

Literature-anchored findings (GeneRIF, showing 6)

• LMW-DSP3 was expressed in the heart, lung, liver, and pancreas, and the expression level in the pancreas was highest. The LMW-DSP3 gene was located in human chromosome 2q32, and consisted of five exons spanning 21kb of human genomic DNA[LMW-DSP3] (PMID:12479873)
• crystal structure of SKRP1 (C150S) has been determined and refined at 1.26 A resolution (Table I). The structure reveals 142 residues (residues 65-206) of SKRP1 and three ions (two sulfates and one phosphate) at the catalytic site (PMID:21989941)
• the activity of JNK stimulated by leptin was suppressed by DUSP19 overexpression. (PMID:26751999)
• DUSP19 mediates spinal cord injury-induced apoptosis and inflammation in mouse primary microglia cells via the NF-kB signaling pathway. (PMID:31813339)
• Circ_HIPK3 alleviates CoCl2-induced apoptotic injury in neuronal cells by depending on the regulation of the miR-222-3p/DUSP19 axis. (PMID:33770577)
• PTEN regulates invasiveness in pancreatic neuroendocrine tumors through DUSP19-mediated VEGFR3 dephosphorylation. (PMID:36336681)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	dusp19a	ENSDARG00000040490
danio_rerio	dusp19b	ENSDARG00000045200
mus_musculus	Dusp19	ENSMUSG00000027001

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), DUSP7 (ENSG00000164086), 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 19 — Q8WTR2 (reviewed: Q8WTR2)

Alternative names: Dual specificity phosphatase TS-DSP1, Low molecular weight dual specificity phosphatase 3, Protein phosphatase SKRP1, Stress-activated protein kinase pathway-regulating phosphatase 1

All UniProt accessions (1): Q8WTR2

UniProt curated annotations — full annotation on UniProt →

Function. Has a dual specificity toward Ser/Thr and Tyr-containing proteins.

Tissue specificity. Expressed in the heart, lung, liver, and pancreas. The expression level in the pancreas is the highest.

Activity regulation. Phosphatase activity is enhanced by Ca(2+) and Mn(2+).

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

Isoforms (2)

UniProt ID	Names	Canonical?
Q8WTR2-1	1, Long	yes
Q8WTR2-2	2, Short

RefSeq proteins (3): NP_001135786, NP_001308448, NP_543152* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000340	Dual-sp_phosphatase_cat-dom	Domain
IPR000387	Tyr_Pase_dom	Domain
IPR020422	TYR_PHOSPHATASE_DUAL_dom	Domain
IPR029021	Prot-tyrosine_phosphatase-like	Homologous_superfamily

Pfam: 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 (22 total): helix 8, strand 7, chain 1, domain 1, turn 1, active site 1, modified residue 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
3S4E	X-RAY DIFFRACTION	1.26
4D3P	X-RAY DIFFRACTION	1.27
4D3Q	X-RAY DIFFRACTION	1.64
4D3R	X-RAY DIFFRACTION	1.67

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WTR2-F1	88.39	0.64

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): 150 (phosphocysteine intermediate)

Post-translational modifications (1): 1

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 149 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, GOBP_NEGATIVE_REGULATION_OF_MAPK_CASCADE, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOMF_KINASE_ACTIVATOR_ACTIVITY, GOBP_JNK_CASCADE, GOZGIT_ESR1_TARGETS_UP, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_NEGATIVE_REGULATION_OF_JNK_CASCADE, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS, GOMF_PROTEIN_SERINE_THREONINE_PHOSPHATASE_ACTIVITY, GOMF_PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY, GOMF_PROTEIN_TYROSINE_SERINE_THREONINE_PHOSPHATASE_ACTIVITY, GOMF_ENZYME_ACTIVATOR_ACTIVITY

GO Biological Process (7): positive regulation of MAPK cascade (GO:0043410), regulation of JNK cascade (GO:0046328), negative regulation of JNK cascade (GO:0046329), positive regulation of JNK cascade (GO:0046330), MAPK cascade (GO:0000165), protein dephosphorylation (GO:0006470), dephosphorylation (GO:0016311)

GO Molecular Function (11): protein serine/threonine phosphatase activity (GO:0004722), protein tyrosine phosphatase activity (GO:0004725), protein kinase inhibitor activity (GO:0004860), MAP kinase scaffold activity (GO:0005078), protein tyrosine/serine/threonine phosphatase activity (GO:0008138), JUN kinase phosphatase activity (GO:0008579), protein kinase activator activity (GO:0030295), mitogen-activated protein kinase kinase kinase binding (GO:0031435), phosphoprotein phosphatase activity (GO:0004721), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (1): cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
JNK cascade	3
phosphoprotein phosphatase activity	3
MAPK cascade	2
regulation of MAPK cascade	2
regulation of JNK cascade	2
protein kinase activity	2
protein kinase regulator activity	2
positive regulation of intracellular signal transduction	1
negative regulation of MAPK cascade	1
positive regulation of MAPK cascade	1
intracellular signaling cassette	1
dephosphorylation	1
protein modification process	1
phosphate-containing compound metabolic process	1
kinase inhibitor activity	1
signaling adaptor activity	1
mitogen-activated protein kinase binding	1
protein complex scaffold activity	1
protein tyrosine/serine/threonine phosphatase activity	1
kinase activator activity	1
protein kinase binding	1
phosphatase activity	1
catalytic activity, acting on a protein	1
binding	1
catalytic activity	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1132 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DUSP19	MAP2K7	O14733	887
DUSP19	MAP3K5	Q99683	683
DUSP19	MAPK9	P45984	570
DUSP19	MAP2K4	P45985	518
DUSP19	NOL9	Q5SY16	470
DUSP19	PAQR3	Q6TCH7	446
DUSP19	DUSP23	Q9BVJ7	438
DUSP19	TBCCD1	Q9NVR7	426
DUSP19	ZNF500	O60304	410
DUSP19	GFOD2	Q3B7J2	409
DUSP19	LDAF1	Q96B96	389
DUSP19	FKBP9	O95302	377
DUSP19	NR2C1	P13056	371
DUSP19	FBXL20	Q96IG2	369
DUSP19	POPDC1	Q8NE79	368
DUSP19	BCKDHB	P21953	368

IntAct

31 interactions, top by confidence:

A	B	Type	Score
ALAS1	DUSP19	psi-mi:“MI:0915”(physical association)	0.870
DUSP19	ALAS1	psi-mi:“MI:0915”(physical association)	0.870
ACTB	DUSP19	psi-mi:“MI:0915”(physical association)	0.670
DUSP19	NARS1	psi-mi:“MI:0914”(association)	0.530
DUSP19	GTPBP1	psi-mi:“MI:0915”(physical association)	0.400
DUSP19	LMTK2	psi-mi:“MI:0915”(physical association)	0.370
DUSP19	ERBB4	psi-mi:“MI:0915”(physical association)	0.370
DUSP19	ERBB2	psi-mi:“MI:0915”(physical association)	0.370
DUSP19	EGFR	psi-mi:“MI:0915”(physical association)	0.370
DUSP19	ERBB3	psi-mi:“MI:0915”(physical association)	0.370
DUSP19	FLT4	psi-mi:“MI:0915”(physical association)	0.370
DUSP19	KDR	psi-mi:“MI:0915”(physical association)	0.370
DUSP19	ROR1	psi-mi:“MI:0915”(physical association)	0.370
DUSP19	ROR2	psi-mi:“MI:0915”(physical association)	0.370
DUSP19	IGF1R	psi-mi:“MI:0915”(physical association)	0.370
DUSP19	INSR	psi-mi:“MI:0915”(physical association)	0.370
DUSP19	ALK	psi-mi:“MI:0915”(physical association)	0.370
DUSP19	PTK7	psi-mi:“MI:0915”(physical association)	0.370
DUSP19	EPHA2	psi-mi:“MI:0915”(physical association)	0.370
DUSP19	EPHB6	psi-mi:“MI:0915”(physical association)	0.370
DUSP19	TPR	psi-mi:“MI:0914”(association)	0.350
DUSP19	PPP2R1A	psi-mi:“MI:0914”(association)	0.350
DUSP19	ALAS1	psi-mi:“MI:0915”(physical association)	0.000
ACTB	DUSP19	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (115): DUSP19 (Two-hybrid), ACAD11 (Affinity Capture-MS), ACTB (Affinity Capture-MS), ACTA2 (Affinity Capture-MS), HDGFRP2 (Affinity Capture-MS), FEN1 (Affinity Capture-MS), ALAS1 (Affinity Capture-MS), NARS (Affinity Capture-MS), TCEA1 (Affinity Capture-MS), CUEDC1 (Affinity Capture-MS), ALAS1 (Two-hybrid), DUSP19 (Two-hybrid), DUSP19 (Two-hybrid), ACTA1 (Affinity Capture-MS), ACTBL2 (Affinity Capture-MS)

ESM2 similar proteins: A4D256, A4IHU7, O14830, O35239, O35385, O95147, P0C591, P0C592, P0C593, P0C594, P0C595, P0C596, P0C597, P0C598, P0C599, P0C5A0, P0C5A1, P0C5A2, P43378, P51452, Q16828, Q17QM8, Q29RA3, Q2KJ36, Q4KL92, Q4RQD3, Q566R7, Q5RD73, Q5XHB2, Q641Z2, Q64346, Q68J44, Q6AXW7, Q6GQJ8, Q86BN8, Q8BK84, Q8K4T5, Q8WTR2, Q8WUK0, Q90W58

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

1 interactions.

A	Effect	B	Mechanism
DUSP19	down-regulates	MAPK8	dephosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 21 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	6	32.3×	2e-06
PIP3 activates AKT signaling	6	22.3×	7e-06
RAF/MAP kinase cascade	6	20.4×	1e-05

GO biological processes:

GO term	Partners	Fold	FDR
cell surface receptor protein tyrosine kinase signaling pathway	9	74.5×	5e-13
protein autophosphorylation	7	48.4×	1e-08
positive regulation of MAPK cascade	8	30.7×	1e-08
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	6	22.4×	1e-05
positive regulation of cell migration	7	20.6×	3e-06
cell migration	6	17.6×	5e-05
negative regulation of apoptotic process	6	9.9×	5e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	48
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1460270	NC_000002.11:g.(?183790430)(184025859_?)del	Pathogenic

SpliceAI

540 predictions. Top by Δscore:

Variant	Effect	Δscore
2:183087188:GAAAA:G	donor_gain	1.0000
2:183087193:G:GG	donor_gain	1.0000
2:183095621:GCAA:G	donor_gain	1.0000
2:183095624:A:AG	donor_gain	1.0000
2:183079156:CTAGG:C	donor_loss	0.9900
2:183079158:AGG:A	donor_loss	0.9900
2:183079159:GGT:G	donor_loss	0.9900
2:183079160:GT:G	donor_loss	0.9900
2:183079161:T:G	donor_loss	0.9900
2:183087190:AAAGT:A	donor_loss	0.9900
2:183087191:AAGT:A	donor_loss	0.9900
2:183087194:TGAGT:T	donor_loss	0.9900
2:183087195:G:GC	donor_loss	0.9900
2:183087196:AG:A	donor_loss	0.9900
2:183094290:G:GT	donor_gain	0.9900
2:183095593:C:G	donor_gain	0.9900
2:183095688:T:TA	donor_gain	0.9900
2:183095689:A:AA	donor_gain	0.9900
2:183079162:GAGTA:G	donor_loss	0.9800
2:183083506:AG:A	acceptor_gain	0.9800
2:183083507:GG:G	acceptor_gain	0.9800
2:183087034:TTTAA:T	acceptor_loss	0.9800
2:183087035:TTAA:T	acceptor_loss	0.9800
2:183087036:TAA:T	acceptor_loss	0.9800
2:183087037:AAGG:A	acceptor_loss	0.9800
2:183087038:A:G	acceptor_gain	0.9800
2:183087038:A:T	acceptor_loss	0.9800
2:183095592:GCTTC:G	donor_gain	0.9800
2:183095624:A:G	donor_gain	0.9800
2:183095732:A:T	donor_gain	0.9800

AlphaMissense

1439 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:183095447:T:A	V148D	0.998
2:183087053:T:C	L96P	0.997
2:183095581:T:C	F193L	0.997
2:183095583:C:A	F193L	0.997
2:183095583:C:G	F193L	0.997
2:183095454:T:G	C150W	0.996
2:183095471:G:T	R156M	0.996
2:183095492:G:A	G163D	0.996
2:183095582:T:C	F193S	0.996
2:183087053:T:A	L96H	0.995
2:183087059:T:A	V98D	0.995
2:183095452:T:C	C150R	0.995
2:183095462:G:A	G153D	0.995
2:183083523:C:A	A81D	0.994
2:183095444:T:C	L147P	0.994
2:183095453:G:A	C150Y	0.994
2:183095472:G:C	R156S	0.994
2:183095472:G:T	R156S	0.994
2:183079151:T:C	L73S	0.993
2:183087160:T:C	C132R	0.993
2:183095441:T:A	V146D	0.993
2:183095471:G:C	R156T	0.993
2:183087062:C:A	A99E	0.992
2:183087123:T:A	D119E	0.992
2:183087123:T:G	D119E	0.992
2:183095449:C:G	H149D	0.992
2:183095556:A:C	R184S	0.992
2:183095556:A:T	R184S	0.992
2:183095594:T:C	L197P	0.992
2:183087169:T:C	F135L	0.991

dbSNP variants (sampled 300 via entrez): RS1000277081 (2:183086522 A>G), RS1000360660 (2:183099968 A>G), RS1000375440 (2:183099842 C>G,T), RS1000391708 (2:183099683 T>C), RS1000550865 (2:183080074 G>T), RS1000559932 (2:183093152 A>G), RS1000562149 (2:183085326 G>A,C), RS1000612376 (2:183093499 A>C,G), RS1000750623 (2:183091563 A>T), RS1000831352 (2:183092904 A>C,G,T), RS1000850873 (2:183100079 C>G,T), RS1000923384 (2:183097786 A>C), RS1001227091 (2:183091349 T>G), RS1001570678 (2:183080842 C>T), RS1001601962 (2:183080531 A>C,G)

Disease associations

OMIM: gene MIM:611437 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): primary amenorrhea (MONDO:1060208)

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

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

Chemical	Actions (top 5)	PubMed papers
bisphenol F	affects cotreatment, decreases methylation	1
bisphenol A	increases expression	1
2-methyl-4-isothiazolin-3-one	decreases expression	1
sodium arsenite	increases expression	1
hydroquinone	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
polyhexamethyleneguanidine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	increases reaction, affects binding	1
erucylphospho-N,N,N-trimethylpropylammonium	increases expression	1
ICG 001	increases expression	1
abrine	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
MT19c compound	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Temozolomide	decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Cisplatin	affects cotreatment, increases expression	1
Doxorubicin	increases expression	1
Formaldehyde	decreases expression	1
Gasoline	affects cotreatment, increases abundance, increases expression	1
Hydrogen Peroxide	affects cotreatment, decreases expression	1
Lipopolysaccharides	affects response to substance, increases expression	1
Polycyclic Aromatic Hydrocarbons	affects cotreatment, increases abundance, increases expression	1
Theophylline	affects cotreatment, decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Asbestos, Crocidolite	decreases expression	1
Okadaic Acid	decreases expression	1
Copper Sulfate	decreases expression	1
Particulate Matter	affects cotreatment, increases abundance, increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT07164248	Not specified	COMPLETED	Evaluation of Bone Mineral Density Indications and Outcomes in Female Adolescents: Implications for Early Detection of Osteopenia/Osteoporosis and Gynecologic Practice