DUSP14
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Also known as MKP-LMKP6
Summary
DUSP14 (dual specificity phosphatase 14, HGNC:17007) is a protein-coding gene on chromosome 17q12, encoding Dual specificity protein phosphatase 14 (O95147). Involved in the inactivation of MAP kinases.
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. DUSP14 contains the consensus DUSP C-terminal catalytic domain but 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 11072 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 30 total
- Druggable target: yes
- MANE Select transcript:
NM_007026
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17007 |
| Approved symbol | DUSP14 |
| Name | dual specificity phosphatase 14 |
| Location | 17q12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MKP-L, MKP6 |
| Ensembl gene | ENSG00000276023 |
| Ensembl biotype | protein_coding |
| OMIM | 606618 |
| Entrez | 11072 |
Gene structure
Transcript identifiers
Ensembl transcripts: 19 — 19 protein_coding
ENST00000613659, ENST00000614411, ENST00000617516, ENST00000908259, ENST00000908260, ENST00000908261, ENST00000908262, ENST00000908263, ENST00000908264, ENST00000908265, ENST00000908266, ENST00000919177, ENST00000919178, ENST00000919179, ENST00000919180, ENST00000919181, ENST00000919182, ENST00000949144, ENST00000949145
RefSeq mRNA: 1 — MANE Select: NM_007026
NM_007026
CCDS: CCDS11320
Canonical transcript exons
ENST00000614294 — 0 exons
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 93.66.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.7301 / max 353.2049, expressed in 1786 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 160463 | 28.2262 | 1782 |
| 160464 | 2.1179 | 676 |
| 160466 | 0.3091 | 98 |
| 160465 | 0.0769 | 26 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| olfactory segment of nasal mucosa | UBERON:0005386 | 93.66 | gold quality |
| skin of leg | UBERON:0001511 | 92.61 | gold quality |
| placenta | UBERON:0001987 | 92.36 | gold quality |
| zone of skin | UBERON:0000014 | 91.93 | gold quality |
| stromal cell of endometrium | CL:0002255 | 91.09 | gold quality |
| skin of abdomen | UBERON:0001416 | 91.00 | gold quality |
| nucleus accumbens | UBERON:0001882 | 89.14 | gold quality |
| putamen | UBERON:0001874 | 88.60 | gold quality |
| caudate nucleus | UBERON:0001873 | 88.40 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 88.39 | gold quality |
| thyroid gland | UBERON:0002046 | 88.06 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 87.94 | gold quality |
| prefrontal cortex | UBERON:0000451 | 87.92 | gold quality |
| adrenal tissue | UBERON:0018303 | 87.52 | gold quality |
| gall bladder | UBERON:0002110 | 87.39 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 87.28 | gold quality |
| primary visual cortex | UBERON:0002436 | 87.14 | gold quality |
| frontal cortex | UBERON:0001870 | 86.95 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 86.77 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 86.58 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 86.29 | gold quality |
| cerebral cortex | UBERON:0000956 | 86.14 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 85.93 | gold quality |
| right adrenal gland | UBERON:0001233 | 85.92 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 85.81 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 85.74 | gold quality |
| adenohypophysis | UBERON:0002196 | 85.65 | gold quality |
| right frontal lobe | UBERON:0002810 | 85.63 | gold quality |
| left adrenal gland | UBERON:0001234 | 85.42 | gold quality |
| esophagus mucosa | UBERON:0002469 | 85.30 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.91 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NR2C2
miRNA regulators (miRDB)
54 targeting DUSP14, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| 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-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-7152-3P | 99.97 | 67.47 | 849 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-557 | 99.96 | 70.01 | 1640 |
| HSA-MIR-6772-5P | 99.94 | 67.01 | 577 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-204-5P | 99.79 | 71.62 | 2439 |
| HSA-MIR-211-5P | 99.79 | 71.65 | 2440 |
| HSA-MIR-623 | 99.76 | 68.16 | 1170 |
| HSA-MIR-3680-3P | 99.75 | 72.51 | 3095 |
| HSA-MIR-4755-5P | 99.71 | 70.34 | 2716 |
| HSA-MIR-5006-3P | 99.71 | 70.26 | 2728 |
| HSA-MIR-6887-3P | 99.66 | 67.83 | 1778 |
| HSA-MIR-586 | 99.65 | 70.40 | 2051 |
| HSA-MIR-4499 | 99.62 | 67.29 | 1470 |
| HSA-MIR-199A-5P | 99.51 | 69.71 | 1107 |
| HSA-MIR-199B-5P | 99.51 | 69.74 | 1098 |
| HSA-MIR-548G-3P | 99.48 | 68.67 | 2159 |
| HSA-MIR-6081 | 99.48 | 66.07 | 1446 |
| HSA-MIR-155-5P | 99.35 | 70.16 | 1509 |
| HSA-MIR-580-5P | 99.28 | 70.94 | 1776 |
Literature-anchored findings (GeneRIF, showing 10)
- Activation of ATM by radiation down-regulates phospho-ERK1/2 and its downstream signaling via increased expression of mitogen-activated protein kinase phosphatase MKP-1. (PMID:17178844)
- The binding of Lipomannan to TLR2 triggers MAPK activation, followed by an up-regulation of MKP-1 expression, which in turn may act as a negative regulator of MAPK activation. (PMID:18201568)
- The overproduction, purification and crystal structure at 1.88 A resolution of human dual-specificity phosphatase 14, DUSP14 (MKP6), are reported. (PMID:19770498)
- DUSP14 may be a susceptibility gene for pulmonary tuberculosis. (PMID:22233810)
- findings suggest that DUSP14 negatively regulates TNF- or IL-1-induced NF-kappaB activation by dephosphorylating TAK1 at Thr-187 (PMID:23229544)
- these findings reveal a novel mechanism by which TRAF2 mediates Lys63-linked ubiquitination of DUSP14, leading to DUSP14 activation in T cells (PMID:26521044)
- levels significantly decreased in failing hearts (PMID:26891723)
- The AA genotype was associated with protection against active TB. Among disease-free individuals, T-helper type-1 related genes, IFNGR2 and STAT1 mRNA levels significantly increased as the number of A alleles of rs1051838 increased. (PMID:26938665)
- Hepatocyte DUSP14 is required for maintaining hepatic metabolic homeostasis and for suppressing inflammation, a novel function that relies on constraining TAK1 hyperactivation (PMID:29077210)
- Bioinformatic studies showed that these two miRNAs target PTEN and DUSP14 tumor suppressor genes. Quantitative Real-time PCR confirmed the overexpression of the miRNAs and downregulation of their targets. Luciferase assay confirmed that the miRNAs target PTEN and DUSP14. (PMID:30335891)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Dusp14 | ENSMUSG00000018648 |
| rattus_norvegicus | Dusp14 | ENSRNOG00000030091 |
| rattus_norvegicus | Dusp14l1 | ENSRNOG00000079426 |
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), DUSP7 (ENSG00000164086), DUSP18 (ENSG00000167065), SSH3 (ENSG00000172830), DUSP8 (ENSG00000184545), DUSP28 (ENSG00000188542), DUSP29 (ENSG00000188716), DUSP21 (ENSG00000189037), STYX (ENSG00000198252), STYXL2 (ENSG00000198842), DUSP13A (ENSG00000293543)
Protein
Protein identifiers
Dual specificity protein phosphatase 14 — O95147 (reviewed: O95147)
Alternative names: MKP-1-like protein tyrosine phosphatase, Mitogen-activated protein kinase phosphatase 6
All UniProt accessions (2): O95147, Q6FI36
UniProt curated annotations — full annotation on UniProt →
Function. Involved in the inactivation of MAP kinases. Dephosphorylates ERK, JNK and p38 MAP-kinases. Plays a negative role in TCR signaling by dephosphorylating MAP3K7 adapter TAB1 leading to its inactivation.
Subunit / interactions. Interacts with CD28.
Similarity. Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily.
RefSeq proteins (1): NP_008957* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000340 | Dual-sp_phosphatase_cat-dom | Domain |
| IPR000387 | Tyr_Pase_dom | Domain |
| IPR016130 | Tyr_Pase_AS | Active_site |
| IPR020420 | Atypical_DUSP_subfamB | Family |
| IPR020422 | TYR_PHOSPHATASE_DUAL_dom | Domain |
| IPR029021 | Prot-tyrosine_phosphatase-like | Homologous_superfamily |
| IPR052103 | Dual_spec_Phospatases | Family |
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 (20 total): strand 9, helix 8, chain 1, domain 1, active site 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2WGP | X-RAY DIFFRACTION | 1.88 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O95147-F1 | 89.31 | 0.81 |
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): 111 (phosphocysteine intermediate)
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 196 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, AP1_01, MIDORIKAWA_AMPLIFIED_IN_LIVER_CANCER, ENK_UV_RESPONSE_KERATINOCYTE_UP, KEGG_MAPK_SIGNALING_PATHWAY, SP3_Q3, HUMMERICH_SKIN_CANCER_PROGRESSION_DN, WEI_MYCN_TARGETS_WITH_E_BOX, AP1_Q4_01, ONKEN_UVEAL_MELANOMA_UP, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, FOSTER_TOLERANT_MACROPHAGE_UP, NF1_Q6_01, SASSON_RESPONSE_TO_FORSKOLIN_DN
GO Biological Process (2): protein dephosphorylation (GO:0006470), dephosphorylation (GO:0016311)
GO Molecular Function (7): RNA binding (GO:0003723), protein serine/threonine phosphatase activity (GO:0004722), protein tyrosine phosphatase activity (GO:0004725), MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017), 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 |
|---|---|
| phosphoprotein phosphatase activity | 2 |
| dephosphorylation | 1 |
| protein modification process | 1 |
| phosphate-containing compound metabolic process | 1 |
| nucleic acid binding | 1 |
| protein tyrosine/serine/threonine phosphatase activity | 1 |
| MAP kinase phosphatase activity | 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
1042 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DUSP14 | C17orf78 | Q8N4C9 | 599 |
| DUSP14 | CD28 | P10747 | 580 |
| DUSP14 | SYNRG | Q9UMZ2 | 556 |
| DUSP14 | TADA2A | O75478 | 538 |
| DUSP14 | MRM1 | Q6IN84 | 500 |
| DUSP14 | MAPK14 | Q16539 | 482 |
| DUSP14 | DDX52 | Q9Y2R4 | 476 |
| DUSP14 | PIGW | Q7Z7B1 | 467 |
| DUSP14 | ZNHIT3 | Q15649 | 463 |
| DUSP14 | UBB | P02248 | 450 |
| DUSP14 | GGNBP2 | Q9H3C7 | 450 |
| DUSP14 | DUSP11 | O75319 | 388 |
| DUSP14 | MYO19 | Q96H55 | 378 |
| DUSP14 | TAB1 | Q15750 | 377 |
| DUSP14 | FBXO16 | Q8IX29 | 375 |
IntAct
160 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| OAZ3 | AZIN1 | psi-mi:“MI:0914”(association) | 0.800 |
| SMARCD1 | ARID1A | psi-mi:“MI:0914”(association) | 0.790 |
| KIF3A | KIF3C | psi-mi:“MI:0914”(association) | 0.730 |
| ANXA9 | PPL | psi-mi:“MI:0914”(association) | 0.660 |
| RAB11B | SH3BP5 | psi-mi:“MI:0914”(association) | 0.640 |
| CAPZA2 | CNOT1 | psi-mi:“MI:0914”(association) | 0.640 |
| DUSP14 | CBY2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CBY2 | DUSP14 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MAS1 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| HEATR1 | SLC27A2 | psi-mi:“MI:0914”(association) | 0.530 |
| PMM1 | PMM2 | psi-mi:“MI:0914”(association) | 0.530 |
| CCDC51 | TGM5 | psi-mi:“MI:0914”(association) | 0.530 |
| GDF5 | SERPINB7 | psi-mi:“MI:0914”(association) | 0.530 |
| CPLX3 | CIAO1 | psi-mi:“MI:0914”(association) | 0.530 |
| B3GALNT1 | DUSP14 | psi-mi:“MI:0914”(association) | 0.530 |
| CFAP210 | DUSP14 | psi-mi:“MI:0914”(association) | 0.530 |
| SYT16 | DUSP14 | psi-mi:“MI:0914”(association) | 0.530 |
| LPCAT4 | DUSP14 | psi-mi:“MI:0914”(association) | 0.530 |
| LACC1 | DUSP14 | psi-mi:“MI:0914”(association) | 0.530 |
| NSMAF | DUSP14 | psi-mi:“MI:0914”(association) | 0.530 |
| OTULIN | DUSP14 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL38 | DUSP14 | psi-mi:“MI:0914”(association) | 0.530 |
| RHOBTB2 | DUSP14 | psi-mi:“MI:0914”(association) | 0.530 |
| OR51E2 | DUSP14 | psi-mi:“MI:0914”(association) | 0.530 |
| FBXL4 | DUSP14 | psi-mi:“MI:0914”(association) | 0.530 |
| ANKH | FAM234B | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (237): SPERT (Two-hybrid), DUSP14 (Affinity Capture-RNA), DUSP14 (Affinity Capture-MS), DUSP14 (Affinity Capture-MS), DUSP14 (Affinity Capture-MS), DUSP14 (Affinity Capture-MS), DUSP14 (Affinity Capture-MS), DUSP14 (Affinity Capture-MS), DUSP14 (Affinity Capture-MS), DUSP14 (Affinity Capture-MS), DUSP14 (Affinity Capture-MS), DUSP14 (Affinity Capture-MS), DUSP14 (Affinity Capture-MS), DUSP14 (Affinity Capture-MS), DUSP14 (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
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| TANK | “up-regulates activity” | DUSP14 | ubiquitination |
| DUSP14 | “down-regulates activity” | TAB1 | dephosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 175 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cell surface receptor protein tyrosine kinase signaling pathway | 10 | 10.5× | 4e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
30 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 25 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
568 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:37489958:GGTA:G | donor_loss | 1.0000 |
| 17:37489959:GTAG:G | donor_loss | 1.0000 |
| 17:37489960:T:A | donor_loss | 1.0000 |
| 17:37510761:GGAA:G | donor_gain | 1.0000 |
| 17:37510762:G:GT | donor_gain | 1.0000 |
| 17:37510762:GAA:G | donor_gain | 1.0000 |
| 17:37510765:G:GG | donor_gain | 1.0000 |
| 17:37512178:CAG:C | acceptor_loss | 1.0000 |
| 17:37512179:A:AG | acceptor_gain | 1.0000 |
| 17:37512180:G:GT | acceptor_gain | 1.0000 |
| 17:37512180:GGA:G | acceptor_gain | 1.0000 |
| 17:37512180:GGAA:G | acceptor_gain | 1.0000 |
| 17:37489913:G:GT | donor_gain | 0.9900 |
| 17:37489955:GCCG:G | donor_gain | 0.9900 |
| 17:37489959:G:GG | donor_gain | 0.9900 |
| 17:37510673:GCA:G | acceptor_loss | 0.9900 |
| 17:37510675:A:AC | acceptor_loss | 0.9900 |
| 17:37510675:A:AG | acceptor_gain | 0.9900 |
| 17:37510676:G:GG | acceptor_gain | 0.9900 |
| 17:37510676:G:GT | acceptor_loss | 0.9900 |
| 17:37510676:GATTT:G | acceptor_gain | 0.9900 |
| 17:37510760:AGGAA:A | donor_gain | 0.9900 |
| 17:37510761:GGAAG:G | donor_gain | 0.9900 |
| 17:37510763:AA:A | donor_gain | 0.9900 |
| 17:37510763:AAG:A | donor_loss | 0.9900 |
| 17:37510764:AG:A | donor_loss | 0.9900 |
| 17:37510765:GTG:G | donor_loss | 0.9900 |
| 17:37510766:T:A | donor_loss | 0.9900 |
| 17:37510767:GA:G | donor_loss | 0.9900 |
| 17:37510768:AG:A | donor_loss | 0.9900 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000213439 (17:37508664 G>A), RS1000255279 (17:37507747 C>G), RS1000268801 (17:37501971 T>C), RS1000324181 (17:37502322 C>T), RS1000465719 (17:37496128 C>T), RS1000473910 (17:37496365 G>A), RS1000630454 (17:37490702 T>G), RS1000672338 (17:37490266 T>A,C), RS1000921513 (17:37513186 T>G), RS1001041652 (17:37490160 C>CA), RS1001092120 (17:37506985 G>A), RS1001261177 (17:37506415 G>A), RS1001347490 (17:37494896 C>G), RS1001453078 (17:37495062 G>A), RS1001633646 (17:37488755 C>T)
Disease associations
OMIM: gene MIM:606618 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001941_16 | Ovarian cancer | 8.000000e-10 |
| GCST004603_181 | Platelet count | 2.000000e-10 |
| GCST004607_74 | Plateletcrit | 1.000000e-11 |
| GCST004625_241 | Monocyte count | 5.000000e-10 |
| GCST90002383_66 | Hematocrit | 5.000000e-11 |
| GCST90002384_410 | Hemoglobin | 1.000000e-09 |
| GCST90002393_518 | Monocyte count | 8.000000e-30 |
| GCST90002402_451 | Platelet count | 1.000000e-17 |
| GCST90002403_357 | Red blood cell count | 2.000000e-10 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004309 | platelet count |
| EFO:0007985 | platelet crit |
| EFO:0005091 | monocyte count |
| EFO:0004348 | hematocrit |
| EFO:0004509 | hemoglobin measurement |
| EFO:0004305 | erythrocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL1764941 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
56 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, increases expression | 5 |
| Aflatoxin B1 | increases methylation, affects expression, decreases methylation, increases expression | 5 |
| Cisplatin | decreases expression, affects cotreatment, increases expression | 4 |
| sodium arsenite | decreases reaction, increases expression | 2 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| Air Pollutants | decreases expression, increases abundance, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| bisphenol A | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| cylindrospermopsin | increases expression | 1 |
| deguelin | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment | 1 |
| nutlin 3 | affects cotreatment, increases expression | 1 |
| thifluzamide | increases expression | 1 |
| abrine | increases expression | 1 |
| pyrachlostrobin | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| (+)-JQ1 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 | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Vorinostat | increases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Adenine | decreases expression | 1 |
| Antimycin A | increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Camptothecin | increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL1767973 | Binding | Inhibition of human DUSP14 | Utilization of nitrophenylphosphates and oxime-based ligation for the development of nanomolar affinity inhibitors of the Yersinia pestis outer protein H (YopH) phosphatase. — J Med Chem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): ovarian carcinoma