DUSP23
gene geneOn this page
Also known as FLJ20442DUSP25
Summary
DUSP23 (dual specificity phosphatase 23, HGNC:21480) is a protein-coding gene on chromosome 1q23.2, encoding Dual specificity protein phosphatase 23 (Q9BVJ7). Protein phosphatase that mediates dephosphorylation of proteins phosphorylated on Tyr and Ser/Thr residues.
Enables protein tyrosine/serine/threonine phosphatase activity. Involved in dephosphorylation. Located in nucleoplasm.
Source: NCBI Gene 54935 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 39 total
- Druggable target: yes
- MANE Select transcript:
NM_001319658
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21480 |
| Approved symbol | DUSP23 |
| Name | dual specificity phosphatase 23 |
| Location | 1q23.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ20442, DUSP25 |
| Ensembl gene | ENSG00000158716 |
| Ensembl biotype | protein_coding |
| OMIM | 618361 |
| Entrez | 54935 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 5 protein_coding
ENST00000368107, ENST00000368108, ENST00000368109, ENST00000880030, ENST00000912050
RefSeq mRNA: 3 — MANE Select: NM_001319658
NM_001319658, NM_001319659, NM_017823
CCDS: CCDS1187
Canonical transcript exons
ENST00000368107 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001446336 | 159780962 | 159781367 |
| ENSE00001446338 | 159782153 | 159782543 |
Expression profiles
Bgee: expression breadth ubiquitous, 240 present calls, max score 97.08.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.7701 / max 180.9927, expressed in 1693 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 5984 | 7.4877 | 1662 |
| 5985 | 5.9481 | 1481 |
| 5988 | 0.8109 | 475 |
| 5986 | 0.3562 | 159 |
| 5989 | 0.0947 | 36 |
| 5987 | 0.0724 | 25 |
Top tissues by expression
249 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left adrenal gland cortex | UBERON:0035825 | 97.08 | gold quality |
| left adrenal gland | UBERON:0001234 | 96.99 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 96.94 | gold quality |
| right lobe of liver | UBERON:0001114 | 96.81 | gold quality |
| right adrenal gland | UBERON:0001233 | 96.76 | gold quality |
| minor salivary gland | UBERON:0001830 | 96.67 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 96.49 | gold quality |
| adrenal cortex | UBERON:0001235 | 96.33 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 96.21 | gold quality |
| mouth mucosa | UBERON:0003729 | 96.03 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 95.67 | gold quality |
| omental fat pad | UBERON:0010414 | 94.86 | gold quality |
| peritoneum | UBERON:0002358 | 94.82 | gold quality |
| metanephros cortex | UBERON:0010533 | 94.82 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 94.73 | gold quality |
| esophagus mucosa | UBERON:0002469 | 94.71 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 94.64 | gold quality |
| left uterine tube | UBERON:0001303 | 94.60 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 94.31 | gold quality |
| adrenal gland | UBERON:0002369 | 94.25 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 94.10 | gold quality |
| gingival epithelium | UBERON:0001949 | 93.94 | gold quality |
| skin of abdomen | UBERON:0001416 | 93.73 | gold quality |
| left coronary artery | UBERON:0001626 | 93.69 | gold quality |
| endocervix | UBERON:0000458 | 93.68 | gold quality |
| gingiva | UBERON:0001828 | 93.50 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 93.43 | gold quality |
| cortex of kidney | UBERON:0001225 | 93.39 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 93.37 | gold quality |
| granulocyte | CL:0000094 | 93.28 | gold quality |
Single-cell (SCXA)
Detected in 10 experiment(s), a significant marker in 10.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-124472 | yes | 1872.73 |
| E-GEOD-135922 | yes | 285.07 |
| E-MTAB-10287 | yes | 74.39 |
| E-HCAD-1 | yes | 34.88 |
| E-MTAB-6701 | yes | 30.06 |
| E-CURD-114 | yes | 27.09 |
| E-MTAB-8410 | yes | 24.96 |
| E-HCAD-6 | yes | 20.18 |
| E-HCAD-13 | yes | 7.30 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
17 targeting DUSP23, 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-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-6733-3P | 99.54 | 67.80 | 1281 |
| HSA-MIR-7159-5P | 99.53 | 72.12 | 2472 |
| HSA-MIR-3127-3P | 98.94 | 67.34 | 1055 |
| HSA-MIR-6756-3P | 98.94 | 66.79 | 1104 |
| HSA-MIR-3154 | 98.94 | 66.55 | 1455 |
| HSA-MIR-629-5P | 98.78 | 68.72 | 1032 |
| HSA-MIR-4272 | 98.76 | 68.74 | 1810 |
| HSA-MIR-6827-5P | 98.46 | 64.88 | 1256 |
| HSA-MIR-3157-5P | 97.41 | 67.61 | 998 |
| HSA-MIR-6726-5P | 95.97 | 63.72 | 841 |
| HSA-MIR-920 | 95.97 | 63.95 | 811 |
| HSA-MIR-4300 | 95.85 | 64.56 | 1003 |
| HSA-MIR-5591-5P | 95.85 | 64.76 | 1002 |
Literature-anchored findings (GeneRIF, showing 4)
- DUSP23 showed distinctive phosphatase activity toward p-nitrophenyl phosphate, as well as oligopeptides containing phospho-tyrosine and phospho-threonine residues. Furthermore, DUSP23 could dephosphorylate p44ERK1 but not p38 and p54SAPKbeta in vitro (PMID:15147733)
- the smallest active protein-tyrosine phosphatase yet (only 16 kDa) belongs to the group of small Vaccinia virus VH1-related dual specific phosphatases; gene is located on human chromosome 1q23.1 and consists of only two coding exons (PMID:15201283)
- The upregulation of VHZ levels in primary human cancers supports the clinical relevance of this protein in cancers (PMID:20509867)
- this study shows that DUSP23 mRNA levels in CD4+ T cells are higher in the systemic lupus erythematosus patients (PMID:27737517)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dusp23a | ENSDARG00000009844 |
| danio_rerio | dusp23b | ENSDARG00000089245 |
| mus_musculus | Dusp23 | ENSMUSG00000026544 |
| rattus_norvegicus | Dusp23 | ENSRNOG00000022143 |
Protein
Protein identifiers
Dual specificity protein phosphatase 23 — Q9BVJ7 (reviewed: Q9BVJ7)
Alternative names: Low molecular mass dual specificity phosphatase 3, VH1-like phosphatase Z
All UniProt accessions (2): A0A140VJI5, Q9BVJ7
UniProt curated annotations — full annotation on UniProt →
Function. Protein phosphatase that mediates dephosphorylation of proteins phosphorylated on Tyr and Ser/Thr residues. In vitro, it can dephosphorylate p44-ERK1 (MAPK3) but not p54 SAPK-beta (MAPK10) in vitro. Able to enhance activation of JNK and p38 (MAPK14).
Subcellular location. Cytoplasm. Cytosol. Nucleus.
Tissue specificity. Widely expressed. Highly expressed in spleen, prostate, colon, adrenal gland, mammary gland, thyroid and trachea. Expressed at lower level in uterus, small intestine, bladder, bone marrow, brain, spinal cord and stomach.
Similarity. Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily.
RefSeq proteins (3): NP_001306587, NP_001306588, NP_060293 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000387 | Tyr_Pase_dom | Domain |
| IPR003595 | Tyr_Pase_cat | Domain |
| IPR016130 | Tyr_Pase_AS | Active_site |
| IPR020422 | TYR_PHOSPHATASE_DUAL_dom | Domain |
| IPR029021 | Prot-tyrosine_phosphatase-like | Homologous_superfamily |
| IPR050561 | PTP | Family |
| IPR057023 | PTP-SAK | Domain |
Pfam: PF22784
Enzyme classification (BRENDA):
- EC 3.1.3.48 — protein-tyrosine-phosphatase (BRENDA: 59 organisms, 501 substrates, 1326 inhibitors, 270 Km, 165 kcat entries)
Substrate kinetics (BRENDA)
70 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| 4-NITROPHENYL PHOSPHATE | 0.0008–148 | 84 |
| 6,8-DIFLUORO-4-METHYLUMBELLIFERYL PHOSPHATE | 0.0039–0.862 | 27 |
| P-NITROPHENYL PHOSPHATE | 0.0024–10 | 20 |
| DADEPYLIPQQG | 0.0003–0.1 | 12 |
| PHOSPHOTYROSINE | 0.012–30 | 11 |
| LYSOZYME | 0.0003–0.012 | 5 |
| MYELIN BASIC PROTEIN | 0.0001–0.022 | 5 |
| ACETYL-DADEPY-NH2 | 0.0228–0.219 | 4 |
| ACETYL-DADEPYL-NH2 | 1.1–97.5 | 4 |
| 4,6,8-TRIMETHYL-2-OXO-2H-CHROMEN-7-YL DIHYDROGEN | 0.02–0.156 | 3 |
| SASASPYSASA | 0.53–2.3 | 3 |
| 1-NAPHTHYL PHOSPHATE | 1.19–1.88 | 2 |
| 3,6-FLUORESCEIN DIPHOSPHATE | 15–19 | 2 |
| 4-METHYLUMBELLIFERYL PHOSPHATE | 0.953–2.41 | 2 |
| BOVINE SERUM ALBUMIN | 0.0001–0.0003 | 2 |
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 (21 total): strand 7, helix 6, sequence variant 2, initiator methionine 1, chain 1, domain 1, active site 1, sequence conflict 1, turn 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4ERC | X-RAY DIFFRACTION | 1.15 |
| 2IMG | X-RAY DIFFRACTION | 1.93 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BVJ7-F1 | 97.55 | 0.98 |
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): 95 (phosphocysteine intermediate)
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 81 (showing top):
CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, WANG_LMO4_TARGETS_DN, GOBP_CILIUM_ORGANIZATION, GOBP_ORGANELLE_ASSEMBLY, GOBP_DEPHOSPHORYLATION, GOBP_CELL_PROJECTION_ORGANIZATION, ACEVEDO_LIVER_CANCER_UP, 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_PROTEIN_TYROSINE_PHOSPHATASE_ACTIVITY, GSE13762_CTRL_VS_125_VITAMIND_DAY12_DC_UP, CHEN_LIVER_METABOLISM_QTL_CIS, HORIUCHI_WTAP_TARGETS_UP
GO Biological Process (3): dephosphorylation (GO:0016311), cilium assembly (GO:0060271), 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): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| phosphoprotein phosphatase activity | 3 |
| cellular anatomical structure | 3 |
| phosphate-containing compound metabolic process | 1 |
| axoneme assembly | 1 |
| intraciliary transport involved in cilium assembly | 1 |
| cilium organization | 1 |
| protein localization to cilium | 1 |
| organelle assembly | 1 |
| trans-Golgi to periciliary membrane compartment transport | 1 |
| plasma membrane bounded cell projection assembly | 1 |
| ciliary transition zone assembly | 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 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1030 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DUSP23 | DUSP15 | Q9H1R2 | 728 |
| DUSP23 | DUSP3 | P51452 | 671 |
| DUSP23 | DUSP22 | Q9NRW4 | 584 |
| DUSP23 | PTS | Q03393 | 531 |
| DUSP23 | EPM2A | O95278 | 512 |
| DUSP23 | PTPN7 | P35236 | 488 |
| DUSP23 | ACP1 | P24666 | 476 |
| DUSP23 | DUSP1 | P28562 | 475 |
| DUSP23 | ITGB4 | P16144 | 459 |
| DUSP23 | PTPRA | P18433 | 456 |
| DUSP23 | DUSP29 | Q68J44 | 451 |
| DUSP23 | DUSP19 | Q8WTR2 | 438 |
| DUSP23 | DUSP10 | Q9Y6W6 | 437 |
| DUSP23 | PTPN3 | P26045 | 431 |
| DUSP23 | DUSP5 | Q16690 | 430 |
IntAct
77 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| EXOSC8 | DUSP23 | psi-mi:“MI:0915”(physical association) | 0.810 |
| DUSP23 | EXOSC8 | psi-mi:“MI:0915”(physical association) | 0.810 |
| DUSP23 | NIF3L1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NIF3L1 | DUSP23 | psi-mi:“MI:0915”(physical association) | 0.560 |
| UBA3 | DUSP23 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DUSP23 | BANF2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TCF4 | DUSP23 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DDIT4L | DUSP23 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PSMB8 | DUSP23 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DUSP23 | PSME2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DUSP23 | ASB6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MRNIP | DUSP23 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DUSP23 | POTEI | psi-mi:“MI:0915”(physical association) | 0.400 |
| DUSP23 | PLK4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ASB13 | DUSP23 | psi-mi:“MI:0915”(physical association) | 0.370 |
| DUSP23 | CCDC186 | psi-mi:“MI:0915”(physical association) | 0.370 |
| EDRF1 | DUSP23 | psi-mi:“MI:0915”(physical association) | 0.370 |
| DUSP23 | DBI | psi-mi:“MI:0915”(physical association) | 0.370 |
| DBN1 | DUSP23 | psi-mi:“MI:0915”(physical association) | 0.370 |
| DUSP23 | DNMT3B | psi-mi:“MI:0915”(physical association) | 0.370 |
| DUSP23 | EED | psi-mi:“MI:0915”(physical association) | 0.370 |
| KAT5 | DUSP23 | psi-mi:“MI:0915”(physical association) | 0.370 |
| DUSP23 | KBTBD7 | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (130): DUSP23 (Two-hybrid), NIF3L1 (Two-hybrid), EXOSC8 (Two-hybrid), PLK4 (Affinity Capture-MS), RALGAPA1 (Proximity Label-MS), DUSP23 (Affinity Capture-MS), DUSP23 (Affinity Capture-MS), DUSP23 (Affinity Capture-MS), RAD50 (Affinity Capture-MS), TMEM70 (Affinity Capture-MS), RAC1 (Affinity Capture-MS), RAP1GDS1 (Affinity Capture-MS), PGRMC2 (Affinity Capture-MS), AP3S1 (Affinity Capture-MS), VDAC3 (Affinity Capture-MS)
ESM2 similar proteins: A2VDS1, A4IHU7, A5GFY8, O95147, O95571, P0C089, P0C591, P0C595, P0C596, P0C5A1, P23919, P51452, P53607, Q0B569, Q0VCI1, Q17QM8, Q3T094, Q4KL92, Q4P7L6, Q5BJY6, Q5F389, Q5R9W5, Q5RCH4, Q5RD73, Q5ZJH6, Q5ZKP6, Q62951, Q66GT5, Q6AXW7, Q6JQN1, Q6NT99, Q6PHR2, Q8BK84, Q8BWU5, Q8JZV7, Q8VE01, Q91348, Q91WL8, Q94529, Q99N11
Diamond homologs: A0A0R4IVA4, A1L1R5, A2A3K4, A4D256, A6N3Q4, A7E379, O60729, P35821, P81299, Q00684, Q196Z3, Q4CUJ8, Q59NH8, Q63739, Q6GQT0, Q6NT99, Q6NZK8, Q78EG7, Q86IL4, Q93096, Q9BVJ7, Q9TSM6, Q9UNH5, Q6NKR2, Q9ZQP1, O10274, O55236, O60942, O75319, P24656, P34442, Q17607, Q22707, Q4KM79, Q5E999, Q6NXK5, Q6NY98, Q9P7H1, P70261, Q6DIR8
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| DUSP23 | “up-regulates quantity by stabilization” | GCM1 | dephosphorylation |
| DUSP23 | “down-regulates activity” | MAPK3 | dephosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
39 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 35 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
486 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:159780992:AGG:A | donor_loss | 0.9900 |
| 1:159780993:GG:G | donor_loss | 0.9900 |
| 1:159780994:G:T | donor_loss | 0.9900 |
| 1:159780995:T:G | donor_loss | 0.9900 |
| 1:159781362:G:GT | donor_gain | 0.9900 |
| 1:159781362:G:T | donor_gain | 0.9900 |
| 1:159781364:AGAG:A | donor_loss | 0.9900 |
| 1:159781365:GAG:G | donor_gain | 0.9900 |
| 1:159781366:AG:A | donor_loss | 0.9900 |
| 1:159781367:GG:G | donor_loss | 0.9900 |
| 1:159781097:A:AG | acceptor_gain | 0.9800 |
| 1:159781097:AGC:A | acceptor_gain | 0.9800 |
| 1:159781098:G:GG | acceptor_gain | 0.9800 |
| 1:159781098:GC:G | acceptor_gain | 0.9800 |
| 1:159781098:GCG:G | acceptor_gain | 0.9800 |
| 1:159781099:C:CA | acceptor_gain | 0.9800 |
| 1:159781344:G:GT | donor_gain | 0.9800 |
| 1:159781364:A:T | donor_gain | 0.9800 |
| 1:159781391:G:GT | donor_gain | 0.9800 |
| 1:159782152:GGCT:G | acceptor_gain | 0.9800 |
| 1:159781094:CCCA:C | acceptor_loss | 0.9700 |
| 1:159781095:CCAGC:C | acceptor_loss | 0.9700 |
| 1:159781096:CA:C | acceptor_loss | 0.9700 |
| 1:159781098:G:GC | acceptor_loss | 0.9700 |
| 1:159781098:GCGAT:G | acceptor_gain | 0.9700 |
| 1:159781098:GCGA:G | acceptor_gain | 0.9600 |
| 1:159781363:GAGAG:G | donor_gain | 0.9600 |
| 1:159782147:TCGTA:T | acceptor_loss | 0.9600 |
| 1:159782148:CGTA:C | acceptor_loss | 0.9600 |
| 1:159782149:GTAGG:G | acceptor_loss | 0.9600 |
AlphaMissense
942 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:159782178:G:A | G98D | 0.993 |
| 1:159782310:T:A | V142D | 0.993 |
| 1:159782170:T:G | C95W | 0.992 |
| 1:159782178:G:T | G98V | 0.992 |
| 1:159782168:T:C | C95R | 0.991 |
| 1:159782169:G:A | C95Y | 0.991 |
| 1:159782177:G:C | G98R | 0.990 |
| 1:159782186:C:A | R101S | 0.990 |
| 1:159782205:C:A | A107D | 0.988 |
| 1:159782207:T:C | C108R | 0.988 |
| 1:159782209:T:G | C108W | 0.988 |
| 1:159782299:G:C | Q138H | 0.988 |
| 1:159782299:G:T | Q138H | 0.988 |
| 1:159782160:G:A | G92E | 0.987 |
| 1:159782184:G:A | G100D | 0.987 |
| 1:159781216:T:C | L39P | 0.986 |
| 1:159782193:G:A | G103D | 0.986 |
| 1:159782177:G:T | G98C | 0.985 |
| 1:159782262:G:C | R126P | 0.985 |
| 1:159781153:G:A | G18E | 0.984 |
| 1:159781219:T:A | V40E | 0.984 |
| 1:159782208:G:A | C108Y | 0.983 |
| 1:159782159:G:A | G92R | 0.982 |
| 1:159782159:G:C | G92R | 0.982 |
| 1:159782184:G:T | G100V | 0.982 |
| 1:159782318:T:C | F145L | 0.982 |
| 1:159782320:C:A | F145L | 0.982 |
| 1:159782320:C:G | F145L | 0.982 |
| 1:159782190:C:T | T102I | 0.981 |
| 1:159782283:T:A | I133N | 0.981 |
dbSNP variants (sampled 300 via entrez): RS1000747334 (1:159781044 A>G), RS1000833009 (1:159780481 A>C), RS1001201071 (1:159781311 C>A), RS1002125415 (1:159781870 A>G), RS1002200377 (1:159781564 AACTG>A), RS1002884646 (1:159782015 G>C), RS1002920911 (1:159781652 G>A,C,T), RS1003165704 (1:159782972 C>A), RS1003892984 (1:159780791 C>A,G,T), RS1005083944 (1:159779882 A>G), RS1006126451 (1:159781024 G>A,T), RS1006271169 (1:159779153 G>A,C), RS1006283777 (1:159779423 G>A), RS1007122679 (1:159782389 C>A,T), RS1007922430 (1:159781276 A>T)
Disease associations
OMIM: gene MIM:618361 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001136_2 | Interstitial lung disease | 9.000000e-06 |
| GCST001650_1 | C-reactive protein | 1.000000e-37 |
| GCST001650_11 | C-reactive protein | 3.000000e-10 |
| GCST001650_8 | C-reactive protein | 4.000000e-73 |
| GCST003654_2 | Bone mineral density (Ward’s triangle area) | 1.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004458 | C-reactive protein measurement |
| EFO:0007785 | femoral neck bone mineral density |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL2396506 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
Binding affinities (BindingDB)
1 measured of 1 human assays (1 total across all organisms); most potent 1 below. Values come from heterogeneous assays and are not directly comparable.
| Ligand | Measure | Value | Patent |
|---|---|---|---|
| 6-hydroxy-3-iodo-1-methyl-2-[3-[[2-oxo-2-(4-thiophen-3-ylanilino)acetyl]amino]phenyl]indole-5-carboxylic acid | IC50 | 2900 nM | US-9522881: Hydroxyindole carboxylic acid based inhibitors for oncogenic Src homology-2 domain containing protein tyrosine phosphatase-2 (SHP2) |
ChEMBL bioactivities
3 potent at pChembl≥5 of 5 total, top 3 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.64 | IC50 | 2300 | nM | CHEMBL3319356 |
| 5.47 | IC50 | 3400 | nM | CHEMBL2396718 |
| 5.24 | IC50 | 5700 | nM | CHEMBL2396719 |
PubChem BioAssay actives
3 with measured affinity, of 17 total; 3 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 |
|---|---|---|---|---|
| 6-hydroxy-3-iodo-1-methyl-2-[3-[[2-oxo-2-(4-thiophen-3-ylanilino)acetyl]amino]phenyl]indole-5-carboxylic acid | 1182548: Inhibition of VHZ (unknown origin) | ic50 | 2.3000 | uM |
| 3-[2-(3-chlorophenyl)ethynyl]-6-hydroxy-2-[4-[2-oxo-2-(propylamino)ethoxy]phenyl]-1-benzofuran-5-carboxylic acid | 755760: Inhibition of recombinant VHZ (unknown origin) using pNPP as substrate by spectrophotometric analysis | ic50 | 3.4000 | uM |
| 3-[2-(3-chlorophenyl)ethynyl]-2-[4-[2-(cyclopropylamino)-2-oxoethoxy]phenyl]-6-hydroxy-1-benzofuran-5-carboxylic acid | 755760: Inhibition of recombinant VHZ (unknown origin) using pNPP as substrate by spectrophotometric analysis | ic50 | 5.7000 | uM |
CTD chemical–gene interactions
38 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 6 |
| Air Pollutants | decreases expression, increases abundance | 2 |
| Cisplatin | affects cotreatment, affects expression, decreases expression | 2 |
| Smoke | decreases expression, increases abundance | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| GSK-J4 | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases expression | 1 |
| lead acetate | decreases expression | 1 |
| nitrophenylphosphate | decreases phosphorylation, decreases reaction | 1 |
| methylparaben | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| zinc chromate | decreases expression, increases abundance | 1 |
| nickel sulfate | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | decreases expression, increases abundance | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| entinostat | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| nutlin 3 | increases secretion, affects cotreatment | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Panobinostat | affects cotreatment, affects expression | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Dactinomycin | increases secretion, affects cotreatment | 1 |
| Edetic Acid | decreases phosphorylation, decreases reaction | 1 |
| Ethylmaleimide | decreases phosphorylation, decreases reaction | 1 |
| Phthalic Acids | increases methylation | 1 |
ChEMBL screening assays
6 unique, capped per target: 6 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL2401182 | Binding | Inhibition of recombinant VHZ (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
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): interstitial lung disease