DUSP15
gene geneOn this page
Also known as bA243J16.6VHYFLJ20645bA243J16.5
Summary
DUSP15 (dual specificity phosphatase 15, HGNC:16236) is a protein-coding gene on chromosome 20q11.21, encoding Dual specificity protein phosphatase 15 (Q9H1R2). May dephosphorylate MAPK13, ATF2, ERBB3, PDGFRB and SNX6.
The protein encoded by this gene has both protein-tyrosine phophatase activity and serine/threonine-specific phosphatase activity, and therefore is known as a dual specificity phosphatase. This protein may function in the differentiation of oligodendrocytes. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 128853 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 64 total
- Druggable target: yes
- MANE Select transcript:
NM_080611
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16236 |
| Approved symbol | DUSP15 |
| Name | dual specificity phosphatase 15 |
| Location | 20q11.21 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | bA243J16.6, VHY, FLJ20645, bA243J16.5 |
| Ensembl gene | ENSG00000149599 |
| Ensembl biotype | protein_coding |
| OMIM | 616776 |
| Entrez | 128853 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 9 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000278979, ENST00000339738, ENST00000375966, ENST00000398083, ENST00000398084, ENST00000428829, ENST00000447647, ENST00000459848, ENST00000486996, ENST00000493115, ENST00000916132
RefSeq mRNA: 5 — MANE Select: NM_080611
NM_001012644, NM_001320478, NM_001320479, NM_080611, NM_177991
CCDS: CCDS13193, CCDS42862, CCDS82606, CCDS82607
Canonical transcript exons
ENST00000339738 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001850086 | 31870317 | 31870527 |
| ENSE00003532553 | 31867071 | 31867153 |
| ENSE00003609302 | 31869564 | 31869597 |
| ENSE00003633907 | 31863907 | 31863981 |
| ENSE00003644385 | 31862571 | 31862742 |
| ENSE00003693737 | 31864953 | 31865002 |
| ENSE00003916510 | 31861077 | 31861675 |
Expression profiles
Bgee: expression breadth ubiquitous, 194 present calls, max score 98.89.
FANTOM5 (CAGE): breadth broad, TPM avg 3.6690 / max 327.4877, expressed in 645 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 186878 | 1.7335 | 385 |
| 186880 | 0.5364 | 326 |
| 186879 | 0.5128 | 261 |
| 186877 | 0.4633 | 92 |
| 186881 | 0.2759 | 15 |
| 186876 | 0.0761 | 32 |
| 186883 | 0.0612 | 9 |
| 186882 | 0.0098 | 3 |
Top tissues by expression
243 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left testis | UBERON:0004533 | 98.89 | gold quality |
| right testis | UBERON:0004534 | 98.76 | gold quality |
| testis | UBERON:0000473 | 96.14 | gold quality |
| tibial nerve | UBERON:0001323 | 91.14 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 88.26 | gold quality |
| sperm | CL:0000019 | 88.24 | gold quality |
| metanephros cortex | UBERON:0010533 | 87.19 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.16 | gold quality |
| kidney epithelium | UBERON:0004819 | 86.94 | gold quality |
| cortex of kidney | UBERON:0001225 | 85.72 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 85.30 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 84.44 | gold quality |
| spinal cord | UBERON:0002240 | 84.28 | gold quality |
| right coronary artery | UBERON:0001625 | 83.14 | gold quality |
| vena cava | UBERON:0004087 | 82.71 | silver quality |
| kidney | UBERON:0002113 | 82.55 | gold quality |
| putamen | UBERON:0001874 | 82.21 | gold quality |
| nucleus accumbens | UBERON:0001882 | 81.65 | gold quality |
| ascending aorta | UBERON:0001496 | 81.11 | gold quality |
| thoracic aorta | UBERON:0001515 | 81.11 | gold quality |
| apex of heart | UBERON:0002098 | 80.86 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 80.82 | gold quality |
| sural nerve | UBERON:0015488 | 80.61 | gold quality |
| substantia nigra | UBERON:0002038 | 80.58 | gold quality |
| aorta | UBERON:0000947 | 80.31 | gold quality |
| hypothalamus | UBERON:0001898 | 80.12 | gold quality |
| midbrain | UBERON:0001891 | 79.89 | gold quality |
| caudate nucleus | UBERON:0001873 | 79.85 | gold quality |
| popliteal artery | UBERON:0002250 | 79.79 | gold quality |
| tibial artery | UBERON:0007610 | 79.76 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.70 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
10 targeting DUSP15, 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-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-6763-5P | 99.76 | 64.68 | 1767 |
| HSA-MIR-103A-1-5P | 99.39 | 67.78 | 1545 |
| HSA-MIR-103A-2-5P | 99.39 | 67.72 | 1577 |
| HSA-MIR-328-5P | 99.08 | 64.65 | 1000 |
| HSA-MIR-6885-5P | 98.71 | 64.33 | 902 |
| HSA-MIR-6818-3P | 98.56 | 68.23 | 1307 |
| HSA-MIR-6827-5P | 98.46 | 64.88 | 1256 |
| HSA-MIR-505-5P | 97.01 | 65.54 | 778 |
Literature-anchored findings (GeneRIF, showing 6)
- VHY is a new member of a subgroup of myristoylated VH1-like small dual specificity phosphatases (PMID:15138252)
- crystal structure of catalytic domain (PMID:16170801)
- Dusp15/VHY is a key regulator of oligodendrocyte differentiation, and PDGFR-beta and SNX6 are novel and specific Dusp15 substrates. (PMID:22792334)
- The results showed that dual specificity phosphatase 15 (DUSP15) rs3746599 was significantly associated with autism under allelic, additive and dominant models,The findings initially suggest that DUSP15 might be a susceptibility gene for autism in Chinese Han population. (PMID:27223645)
- Dual-Specificity Phosphatase 15 (DUSP15) Modulates Notch Signaling by Enhancing the Stability of Notch Protein. (PMID:33417224)
- Association between Genetic Variants in DUSP15, CNTNAP2, and PCDHA Genes and Risk of Childhood Autism Spectrum Disorder. (PMID:34257739)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Dusp15 | ENSMUSG00000042662 |
| rattus_norvegicus | Dusp15 | ENSRNOG00000008534 |
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), DUSP2 (ENSG00000158050), KASH5 (ENSG00000161609), DUSP19 (ENSG00000162999), 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 15 — Q9H1R2 (reviewed: Q9H1R2)
Alternative names: VH1-related member Y, Vaccinia virus VH1-related dual-specific protein phosphatase Y
All UniProt accessions (3): Q9H1R2, H0Y5A2, Q5QP64
UniProt curated annotations — full annotation on UniProt →
Function. May dephosphorylate MAPK13, ATF2, ERBB3, PDGFRB and SNX6. May play a role in the regulation of oligodendrocyte differentiation. May play a role in the regulation of myelin formation. Involved in the regulation of Erk1/2 phosphorylation in Schwann cells; the signaling may be linked to the regulation of myelination.
Subcellular location. Cytoplasm Cell membrane.
Tissue specificity. Highly expressed in testis. Expressed in brain; up-regulated in patients with multiple sclerosis gray matter lesions.
Similarity. Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H1R2-1 | 1 | yes |
| Q9H1R2-2 | 2 | |
| Q9H1R2-3 | 3, A | |
| Q9H1R2-4 | 4 |
RefSeq proteins (5): NP_001012662, NP_001307407, NP_001307408, NP_542178, NP_817130 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000340 | Dual-sp_phosphatase_cat-dom | Domain |
| IPR000387 | Tyr_Pase_dom | Domain |
| IPR008984 | SMAD_FHA_dom_sf | Homologous_superfamily |
| IPR016130 | Tyr_Pase_AS | Active_site |
| 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 (25 total): helix 8, strand 5, splice variant 4, chain 1, domain 1, region of interest 1, initiator methionine 1, lipid moiety-binding region 1, compositionally biased region 1, active site 1, mutagenesis site 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1YZ4 | X-RAY DIFFRACTION | 2.4 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H1R2-F1 | 67.61 | 0.38 |
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): 85 (phosphocysteine intermediate)
Post-translational modifications (1): 2
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 85 | loss of phosphatase activity. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 75 (showing top):
BENPORATH_ES_WITH_H3K27ME3, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, GOBP_NEUROGENESIS, SP1_Q2_01, GTGCCTT_MIR506, GOBP_REGULATION_OF_OLIGODENDROCYTE_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_DEPHOSPHORYLATION, GOBP_REGULATION_OF_GLIAL_CELL_DIFFERENTIATION, CCCAGAG_MIR326, GOBP_POSITIVE_REGULATION_OF_ERK1_AND_ERK2_CASCADE, GOBP_GLIAL_CELL_DIFFERENTIATION, chr20q11, GOBP_OLIGODENDROCYTE_DIFFERENTIATION, TGCCTTA_MIR124A
GO Biological Process (6): negative regulation of transcription by RNA polymerase II (GO:0000122), signal transduction (GO:0007165), dephosphorylation (GO:0016311), regulation of oligodendrocyte differentiation (GO:0048713), positive regulation of ERK1 and ERK2 cascade (GO:0070374), protein dephosphorylation (GO:0006470)
GO Molecular Function (7): protein serine/threonine phosphatase activity (GO:0004722), protein tyrosine phosphatase activity (GO:0004725), protein tyrosine/serine/threonine phosphatase activity (GO:0008138), phosphatase activity (GO:0016791), phosphoprotein phosphatase activity (GO:0004721), protein binding (GO:0005515), hydrolase activity (GO:0016787)
GO Cellular Component (4): cytosol (GO:0005829), plasma membrane (GO:0005886), cytoplasm (GO:0005737), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| phosphoprotein phosphatase activity | 3 |
| cellular anatomical structure | 3 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| negative regulation of DNA-templated transcription | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| phosphate-containing compound metabolic process | 1 |
| regulation of glial cell differentiation | 1 |
| oligodendrocyte differentiation | 1 |
| positive regulation of MAPK cascade | 1 |
| ERK1 and ERK2 cascade | 1 |
| regulation of ERK1 and ERK2 cascade | 1 |
| dephosphorylation | 1 |
| protein modification process | 1 |
| phosphoric ester hydrolase activity | 1 |
| phosphatase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1186 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DUSP15 | DUSP23 | Q9BVJ7 | 728 |
| DUSP15 | MYRF | Q9Y2G1 | 534 |
| DUSP15 | ZNF215 | Q9UL58 | 449 |
| DUSP15 | UBE2QL1 | A1L167 | 428 |
| DUSP15 | PDCD11 | Q14690 | 410 |
| DUSP15 | DUSP22 | Q9NRW4 | 405 |
| DUSP15 | SAXO4 | Q7Z5V6 | 403 |
| DUSP15 | ALDH5A1 | P51649 | 400 |
| DUSP15 | LRATD1 | Q96KN4 | 387 |
| DUSP15 | COX4I2 | Q96KJ9 | 386 |
| DUSP15 | PTPN1 | P18031 | 382 |
| DUSP15 | PPM1J | Q5JR12 | 370 |
| DUSP15 | COX4I1 | P13073 | 365 |
| DUSP15 | FAM222A | Q5U5X8 | 360 |
| DUSP15 | RNF113A | O15541 | 358 |
| DUSP15 | PTPN9 | P43378 | 358 |
IntAct
17 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PLCG1 | DUSP15 | psi-mi:“MI:0407”(direct interaction) | 0.540 |
| DUSP15 | PLCG1 | psi-mi:“MI:0915”(physical association) | 0.540 |
| DUSP15 | ABL1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CRK | DUSP15 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SRC | DUSP15 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FYN | DUSP15 | psi-mi:“MI:0915”(physical association) | 0.400 |
| DUSP15 | GRB2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| DUSP15 | NCK1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PIK3R1 | DUSP15 | psi-mi:“MI:0915”(physical association) | 0.400 |
| DUSP15 | IGF1R | psi-mi:“MI:0915”(physical association) | 0.370 |
| DUSP15 | PTK7 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CUL4B | GGTLC3 | psi-mi:“MI:0914”(association) | 0.350 |
| MYC | psi-mi:“MI:0914”(association) | 0.350 | |
| DUSP15 | GALT | psi-mi:“MI:0914”(association) | 0.350 |
| DUSP15 | PCK1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (35): DUSP15 (Two-hybrid), DUSP15 (Two-hybrid), PSMD3 (Affinity Capture-MS), PSMC5 (Affinity Capture-MS), PSMD2 (Affinity Capture-MS), PSMD1 (Affinity Capture-MS), PSMD6 (Affinity Capture-MS), PSMD13 (Affinity Capture-MS), HLCS (Affinity Capture-MS), PSMC3 (Affinity Capture-MS), PTPN5 (Affinity Capture-MS), PSMD7 (Affinity Capture-MS), DUSP15 (Affinity Capture-MS), ANKRD28 (Affinity Capture-MS), ANKRD52 (Affinity Capture-MS)
ESM2 similar proteins: A0A087WVF3, A0A087WXS9, A0A087X179, A0A087X1G2, A6NDS4, A6NER0, A6QPT6, B9A6J9, M3WHG5, O14771, O15482, O15553, O19110, O76081, P0C7X1, P0C7X3, P0C7X4, P35125, P48778, P48967, P79209, Q13670, Q15697, Q2TBC4, Q3T191, Q3UZD7, Q4R2Z8, Q5DRQ5, Q5SSQ6, Q5XFX8, Q69ZB3, Q6DHY5, Q6IPX1, Q6ZMN8, Q8BLR5, Q8BWA8, Q8IYF1, Q8IZP1, Q8JZW5, Q8N7G0
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
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 15 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 |
|---|---|---|---|
| Downstream signal transduction | 6 | 175.7× | 1e-10 |
| FCGR3A-mediated phagocytosis | 6 | 86.4× | 5e-09 |
| VEGFA-VEGFR2 Pathway | 5 | 53.6× | 1e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| ephrin receptor signaling pathway | 5 | 114.6× | 2e-07 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
64 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 50 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1271 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:31863901:A:C | donor_gain | 1.0000 |
| 20:31863901:ACTC:A | donor_loss | 1.0000 |
| 20:31863902:CTCA:C | donor_loss | 1.0000 |
| 20:31863903:T:TA | donor_loss | 1.0000 |
| 20:31863904:CA:C | donor_loss | 1.0000 |
| 20:31863905:A:AC | donor_gain | 1.0000 |
| 20:31863905:A:C | donor_loss | 1.0000 |
| 20:31863906:C:CC | donor_gain | 1.0000 |
| 20:31863982:C:CC | acceptor_gain | 1.0000 |
| 20:31867066:AGTAC:A | donor_loss | 1.0000 |
| 20:31867067:GTA:G | donor_loss | 1.0000 |
| 20:31867068:TACC:T | donor_loss | 1.0000 |
| 20:31867069:A:AT | donor_loss | 1.0000 |
| 20:31867070:C:A | donor_loss | 1.0000 |
| 20:31867151:CAT:C | acceptor_gain | 1.0000 |
| 20:31867154:C:CC | acceptor_gain | 1.0000 |
| 20:31867154:CTGA:C | acceptor_loss | 1.0000 |
| 20:31869594:GTACC:G | acceptor_loss | 1.0000 |
| 20:31869595:TACC:T | acceptor_loss | 1.0000 |
| 20:31869596:ACC:A | acceptor_loss | 1.0000 |
| 20:31869597:CCT:C | acceptor_loss | 1.0000 |
| 20:31869598:CTA:C | acceptor_loss | 1.0000 |
| 20:31869599:T:A | acceptor_loss | 1.0000 |
| 20:31861671:CGAAG:C | acceptor_gain | 0.9900 |
| 20:31861672:GAAG:G | acceptor_gain | 0.9900 |
| 20:31861674:AG:A | acceptor_gain | 0.9900 |
| 20:31861676:C:CC | acceptor_gain | 0.9900 |
| 20:31861676:CTG:C | acceptor_loss | 0.9900 |
| 20:31861681:G:C | acceptor_gain | 0.9900 |
| 20:31861681:G:GC | acceptor_gain | 0.9900 |
AlphaMissense
1511 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:31862613:A:C | F128L | 1.000 |
| 20:31862613:A:T | F128L | 1.000 |
| 20:31862614:A:G | F128S | 1.000 |
| 20:31862615:A:G | F128L | 1.000 |
| 20:31863918:G:C | C81W | 1.000 |
| 20:31863951:G:C | F70L | 1.000 |
| 20:31863951:G:T | F70L | 1.000 |
| 20:31863953:A:G | F70L | 1.000 |
| 20:31862614:A:C | F128C | 0.999 |
| 20:31862615:A:C | F128V | 0.999 |
| 20:31862626:G:T | P124H | 0.999 |
| 20:31862627:G:A | P124S | 0.999 |
| 20:31862632:G:T | A122D | 0.999 |
| 20:31862640:C:A | R119S | 0.999 |
| 20:31862640:C:G | R119S | 0.999 |
| 20:31862641:C:A | R119M | 0.999 |
| 20:31862641:C:G | R119T | 0.999 |
| 20:31862704:G:T | A98E | 0.999 |
| 20:31862721:G:C | S92R | 0.999 |
| 20:31862721:G:T | S92R | 0.999 |
| 20:31862723:T:G | S92R | 0.999 |
| 20:31862726:G:T | R91S | 0.999 |
| 20:31862734:C:A | G88V | 0.999 |
| 20:31862734:C:T | G88D | 0.999 |
| 20:31862735:C:A | G88C | 0.999 |
| 20:31862735:C:G | G88R | 0.999 |
| 20:31863908:A:G | C85R | 0.999 |
| 20:31863909:G:C | H84Q | 0.999 |
| 20:31863909:G:T | H84Q | 0.999 |
| 20:31863916:A:G | L82P | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000036719 (20:31849056 C>T), RS1000192116 (20:31855069 A>C,G), RS1000249644 (20:31852053 G>T), RS1000340713 (20:31861845 T>C), RS1000645861 (20:31851562 G>A), RS1000663562 (20:31859712 C>A), RS1000674527 (20:31860653 G>T), RS1000724816 (20:31860351 C>T), RS1000881409 (20:31866628 C>T), RS1000974509 (20:31853619 C>A,G,T), RS1000990778 (20:31853622 G>A), RS1001245497 (20:31856265 G>A,T), RS1001249881 (20:31867013 A>T), RS1001403150 (20:31863079 G>A,C,T), RS1001507771 (20:31869435 T>A)
Disease associations
OMIM: gene MIM:616776 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010703_295 | Brain morphology (MOSTest) | 1.000000e-14 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004346 | neuroimaging measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL2396507 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.54 | IC50 | 2900 | nM | CHEMBL2396718 |
| 5.34 | IC50 | 4600 | nM | CHEMBL2396719 |
PubChem BioAssay actives
2 with measured affinity, of 2 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 3-[2-(3-chlorophenyl)ethynyl]-6-hydroxy-2-[4-[2-oxo-2-(propylamino)ethoxy]phenyl]-1-benzofuran-5-carboxylic acid | 755761: Inhibition of recombinant VHX (unknown origin) using pNPP as substrate by spectrophotometric analysis | ic50 | 2.9000 | uM |
| 3-[2-(3-chlorophenyl)ethynyl]-2-[4-[2-(cyclopropylamino)-2-oxoethoxy]phenyl]-6-hydroxy-1-benzofuran-5-carboxylic acid | 755761: Inhibition of recombinant VHX (unknown origin) using pNPP as substrate by spectrophotometric analysis | ic50 | 4.6000 | uM |
CTD chemical–gene interactions
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| aristolochic acid I | increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| methyleugenol | increases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| resorcinol | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, increases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| clothianidin | increases expression | 1 |
| nutlin 3 | affects cotreatment, increases expression | 1 |
| abrine | increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Bortezomib | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Leflunomide | increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Camptothecin | increases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Dactinomycin | affects cotreatment, increases expression | 1 |
| Lipopolysaccharides | affects cotreatment, increases expression | 1 |
| N-Nitrosopyrrolidine | increases expression | 1 |
| Plant Extracts | decreases expression, affects cotreatment | 1 |
| Tetrachlorodibenzodioxin | decreases expression | 1 |
| Urethane | increases expression | 1 |
| Particulate Matter | increases abundance, 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 |
|---|---|---|---|
| CHEMBL2401183 | Binding | Inhibition of recombinant VHX (unknown origin) using pNPP as substrate by spectrophotometric analysis | A potent and selective small-molecule inhibitor for the lymphoid-specific tyrosine phosphatase (LYP), a target associated with autoimmune diseases. — J Med Chem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.