DUSP8
gene geneOn this page
Also known as HVH-5HB5FLJ42958
Summary
DUSP8 (dual specificity phosphatase 8, HGNC:3074) is a protein-coding gene on chromosome 11p15.5, encoding Dual specificity protein phosphatase 8 (Q13202). Has phosphatase activity with synthetic phosphatase substrates and negatively regulates mitogen-activated protein kinase activity, presumably by catalysing their dephosphorylation.
The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which is associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates SAPK/JNK and p38, is expressed predominantly in the adult brain, heart, and skeletal muscle, is localized in the cytoplasm, and is induced by nerve growth factor and insulin. An intronless pseudogene for DUSP8 is present on chromosome 10q11.2.
Source: NCBI Gene 1850 — RefSeq curated summary.
At a glance
- Gene–disease (curated): hereditary gingival fibromatosis (Limited, GenCC)
- GWAS associations: 3
- Clinical variants (ClinVar): 107 total
- MANE Select transcript:
NM_004420
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:3074 |
| Approved symbol | DUSP8 |
| Name | dual specificity phosphatase 8 |
| Location | 11p15.5 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HVH-5, HB5, FLJ42958 |
| Ensembl gene | ENSG00000184545 |
| Ensembl biotype | protein_coding |
| OMIM | 602038 |
| Entrez | 1850 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 6 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000331588, ENST00000397374, ENST00000528778, ENST00000892337, ENST00000951652, ENST00000951653, ENST00000951654
RefSeq mRNA: 1 — MANE Select: NM_004420
NM_004420
CCDS: CCDS7724
Canonical transcript exons
ENST00000397374 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001301940 | 1554051 | 1557574 |
| ENSE00001326809 | 1563851 | 1563989 |
| ENSE00001528450 | 1565596 | 1565934 |
| ENSE00001528452 | 1571901 | 1572271 |
| ENSE00003551156 | 1557794 | 1557917 |
| ENSE00003612447 | 1558112 | 1558271 |
| ENSE00003653718 | 1558889 | 1559055 |
Expression profiles
Bgee: expression breadth ubiquitous, 132 present calls, max score 94.35.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.9790 / max 291.5094, expressed in 1407 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 117981 | 8.0610 | 1317 |
| 117980 | 1.7226 | 729 |
| 117979 | 0.2677 | 124 |
| 117978 | 0.2582 | 114 |
| 117976 | 0.2036 | 123 |
| 117973 | 0.1782 | 86 |
| 117975 | 0.1284 | 74 |
| 117977 | 0.1146 | 56 |
| 117974 | 0.0447 | 15 |
Top tissues by expression
132 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| mucosa of stomach | UBERON:0001199 | 94.35 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 94.35 | gold quality |
| primary visual cortex | UBERON:0002436 | 94.09 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 93.74 | gold quality |
| cerebellum | UBERON:0002037 | 93.08 | gold quality |
| cerebellar cortex | UBERON:0002129 | 93.01 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 92.98 | gold quality |
| right frontal lobe | UBERON:0002810 | 92.47 | gold quality |
| frontal cortex | UBERON:0001870 | 92.31 | gold quality |
| prefrontal cortex | UBERON:0000451 | 92.19 | gold quality |
| nucleus accumbens | UBERON:0001882 | 91.82 | gold quality |
| putamen | UBERON:0001874 | 91.80 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 91.64 | gold quality |
| cerebral cortex | UBERON:0000956 | 91.59 | gold quality |
| temporal lobe | UBERON:0001871 | 91.58 | gold quality |
| cortical plate | UBERON:0005343 | 91.58 | gold quality |
| amygdala | UBERON:0001876 | 91.49 | gold quality |
| Ammon’s horn | UBERON:0001954 | 91.07 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 90.97 | gold quality |
| caudate nucleus | UBERON:0001873 | 90.71 | gold quality |
| brain | UBERON:0000955 | 90.67 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 90.06 | gold quality |
| adenohypophysis | UBERON:0002196 | 89.71 | gold quality |
| popliteal artery | UBERON:0002250 | 89.22 | gold quality |
| tibial artery | UBERON:0007610 | 89.18 | gold quality |
| pituitary gland | UBERON:0000007 | 88.39 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 87.56 | gold quality |
| apex of heart | UBERON:0002098 | 87.50 | gold quality |
| hypothalamus | UBERON:0001898 | 87.14 | gold quality |
| ganglionic eminence | UBERON:0004023 | 86.49 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.50 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): MYCN
miRNA regulators (miRDB)
175 targeting DUSP8, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-6748-5P | 100.00 | 65.81 | 1057 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-4715-3P | 99.98 | 66.03 | 670 |
| HSA-MIR-4745-5P | 99.98 | 65.95 | 1028 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-6845-3P | 99.94 | 66.88 | 1439 |
| HSA-MIR-3682-5P | 99.93 | 67.97 | 1163 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
| HSA-MIR-106A-5P | 99.90 | 73.94 | 2683 |
Literature-anchored findings (GeneRIF, showing 7)
- DUSP8 is genetically linked to alcohol dependence and was found on chromosome 11p15.5 (PMID:13129832)
- Because this variant of hVH-5 lacked intronic sequences in its genomic structure, we suggest it might be a processed pseudogene of hVH-5. (PMID:15899389)
- The phosphorylation of the M3/6 phosphatase by JNK in response to stress stimuli results in attenuation of phosphatase activity and acceleration of JNK activation. (PMID:22100391)
- Diabetes type 2 risk gene Dusp8 is associated with altered sucrose reward behavior in mice and humans. (PMID:33131190)
- Dual-specificity phosphatase 8 (DUSP8) induces drug resistance in breast cancer by regulating MAPK pathways. (PMID:35428675)
- DUSP8 induces TGF-beta-stimulated IL-9 transcription and Th9-mediated allergic inflammation by promoting nuclear export of Pur-alpha. (PMID:37909329)
- miR-147b mediated suppression of DUSP8 promotes lung cancer progression. (PMID:38396293)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dusp8a | ENSDARG00000009299 |
| mus_musculus | Dusp8 | ENSMUSG00000037887 |
| rattus_norvegicus | Dusp8 | ENSRNOG00000029394 |
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), DUSP28 (ENSG00000188542), DUSP29 (ENSG00000188716), DUSP21 (ENSG00000189037), STYX (ENSG00000198252), STYXL2 (ENSG00000198842), DUSP14 (ENSG00000276023), DUSP13A (ENSG00000293543)
Protein
Protein identifiers
Dual specificity protein phosphatase 8 — Q13202 (reviewed: Q13202)
Alternative names: Dual specificity protein phosphatase hVH-5
All UniProt accessions (1): Q13202
UniProt curated annotations — full annotation on UniProt →
Function. Has phosphatase activity with synthetic phosphatase substrates and negatively regulates mitogen-activated protein kinase activity, presumably by catalysing their dephosphorylation. Expected to display protein phosphatase activity toward phosphotyrosine, phosphoserine and phosphothreonine residues.
Subunit / interactions. Monomer.
Subcellular location. Cytoplasm. Nucleus.
Tissue specificity. Abundant in brain, heart and skeletal muscle.
Similarity. Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily.
RefSeq proteins (1): NP_004411* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000340 | Dual-sp_phosphatase_cat-dom | Domain |
| IPR000387 | Tyr_Pase_dom | Domain |
| IPR001763 | Rhodanese-like_dom | Domain |
| IPR008343 | MKP | Family |
| IPR016130 | Tyr_Pase_AS | Active_site |
| IPR020422 | TYR_PHOSPHATASE_DUAL_dom | Domain |
| IPR029021 | Prot-tyrosine_phosphatase-like | Homologous_superfamily |
| IPR036873 | Rhodanese-like_dom_sf | Homologous_superfamily |
| IPR048035 | DUSP8_DSP | Domain |
Pfam: PF00581, PF00782
Catalyzed reactions (Rhea), 3 shown:
- O-phospho-L-tyrosyl-[protein] + H2O = L-tyrosyl-[protein] + phosphate (RHEA:10684)
- O-phospho-L-seryl-[protein] + H2O = L-seryl-[protein] + phosphate (RHEA:20629)
- O-phospho-L-threonyl-[protein] + H2O = L-threonyl-[protein] + phosphate (RHEA:47004)
UniProt features (25 total): strand 8, helix 8, compositionally biased region 3, domain 2, chain 1, region of interest 1, active site 1, sequence conflict 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4JMK | X-RAY DIFFRACTION | 1.9 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q13202-F1 | 63.99 | 0.32 |
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): 246 (phosphocysteine intermediate)
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-112409 | RAF-independent MAPK1/3 activation |
| R-HSA-5675221 | Negative regulation of MAPK pathway |
| R-HSA-9652817 | Signaling by MAPK mutants |
MSigDB gene sets: 203 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, AAGCAAT_MIR137, BENPORATH_ES_WITH_H3K27ME3, BROWNE_HCMV_INFECTION_8HR_UP, TGCACTT_MIR519C_MIR519B_MIR519A, ENK_UV_RESPONSE_KERATINOCYTE_UP, KEGG_MAPK_SIGNALING_PATHWAY, GOZGIT_ESR1_TARGETS_DN, MAZ_Q6, TATTATA_MIR374, NAGASHIMA_NRG1_SIGNALING_UP, GGGTGGRR_PAX4_03, GOBP_NEGATIVE_REGULATION_OF_MAPK_CASCADE, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION
GO Biological Process (4): signal transduction (GO:0007165), dephosphorylation (GO:0016311), negative regulation of MAPK cascade (GO:0043409), protein dephosphorylation (GO:0006470)
GO Molecular Function (9): protein serine/threonine phosphatase activity (GO:0004722), protein tyrosine/threonine phosphatase activity (GO:0008330), phosphatase activity (GO:0016791), MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017), MAP kinase tyrosine phosphatase activity (GO:0033550), phosphoprotein phosphatase activity (GO:0004721), protein tyrosine phosphatase activity (GO:0004725), protein binding (GO:0005515), hydrolase activity (GO:0016787)
GO Cellular Component (2): nucleus (GO:0005634), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| MAPK1/MAPK3 signaling | 1 |
| RAF/MAP kinase cascade | 1 |
| Oncogenic MAPK signaling | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| phosphoprotein phosphatase activity | 3 |
| MAP kinase phosphatase activity | 2 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| phosphate-containing compound metabolic process | 1 |
| MAPK cascade | 1 |
| regulation of MAPK cascade | 1 |
| negative regulation of intracellular signal transduction | 1 |
| dephosphorylation | 1 |
| protein modification process | 1 |
| phosphoric ester hydrolase activity | 1 |
| protein tyrosine/serine/threonine phosphatase activity | 1 |
| protein tyrosine phosphatase activity | 1 |
| phosphatase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| binding | 1 |
| catalytic activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1664 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DUSP8 | IGHV4-38-2 | P0DP08 | 580 |
| DUSP8 | DUSP10 | Q9Y6W6 | 550 |
| DUSP8 | DUSP7 | Q16829 | 532 |
| DUSP8 | DUSP9 | Q99956 | 522 |
| DUSP8 | HNRNPC | P07910 | 516 |
| DUSP8 | CDR2 | Q01850 | 505 |
| DUSP8 | DUSP6 | Q16828 | 471 |
| DUSP8 | MAPK12 | P53778 | 468 |
| DUSP8 | MAPK13 | O15264 | 462 |
| DUSP8 | ECHS1 | P30084 | 455 |
| DUSP8 | MAPK11 | Q15759 | 442 |
| DUSP8 | JUN | P05412 | 438 |
| DUSP8 | LRRC56 | Q8IYG6 | 436 |
| DUSP8 | TNF | P01375 | 428 |
| DUSP8 | DUSP22 | Q9NRW4 | 428 |
IntAct
8 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MAPK9 | WDR62 | psi-mi:“MI:0914”(association) | 0.800 |
| MAPK8 | WDR62 | psi-mi:“MI:0914”(association) | 0.730 |
| DUSP8 | MAPK8 | psi-mi:“MI:0914”(association) | 0.660 |
| MAPK8 | DUSP8 | psi-mi:“MI:0915”(physical association) | 0.660 |
| CDC25A | DUSP8 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MAPK8 | WDR62 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPK9 | FTH1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (50): DUSP8 (Affinity Capture-MS), MAPK8 (Affinity Capture-MS), MAPK9 (Affinity Capture-MS), DUSP8 (Affinity Capture-MS), DUSP8 (Affinity Capture-MS), DUSP16 (Affinity Capture-MS), MAPK9 (Affinity Capture-MS), ANKMY2 (Affinity Capture-MS), SUGT1 (Affinity Capture-MS), MAPK8 (Affinity Capture-MS), FKBP5 (Affinity Capture-MS), FBXO11 (Affinity Capture-MS), GRB2 (Affinity Capture-MS), MAPK3 (Affinity Capture-MS), NDUFAF4 (Affinity Capture-MS)
ESM2 similar proteins: A1XQX1, A4FUY1, A6NFA1, A6NLU5, B1ATG9, C0HL12, D0PRN2, E1BBQ2, E9PUN2, O09112, O14514, O54693, O54951, O60347, O70141, P01346, P07456, P09535, P0DI97, P10764, P16611, P58400, P58401, P97260, Q0IJ12, Q13202, Q14CZ8, Q20FD0, Q28142, Q28143, Q3TZ87, Q3UHD1, Q63373, Q63376, Q640R3, Q6A039, Q6PDS0, Q6ZRP7, Q80UW0, Q86YJ5
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 |
|---|---|---|---|
| DUSP8 | down-regulates | MAPK14 | dephosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
107 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 105 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1003 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:1557574:CCTG:C | acceptor_loss | 1.0000 |
| 11:1557575:CTGCG:C | acceptor_loss | 1.0000 |
| 11:1557788:TGGTA:T | donor_loss | 1.0000 |
| 11:1557789:GGTAC:G | donor_loss | 1.0000 |
| 11:1557790:GTACC:G | donor_loss | 1.0000 |
| 11:1557791:TACC:T | donor_loss | 1.0000 |
| 11:1557792:A:T | donor_loss | 1.0000 |
| 11:1557793:CCTGT:C | donor_loss | 1.0000 |
| 11:1558108:TCA:T | donor_loss | 1.0000 |
| 11:1558109:CACCG:C | donor_loss | 1.0000 |
| 11:1558110:A:AC | donor_gain | 1.0000 |
| 11:1558110:AC:A | donor_gain | 1.0000 |
| 11:1558111:C:CC | donor_gain | 1.0000 |
| 11:1558111:CC:C | donor_gain | 1.0000 |
| 11:1558111:CCG:C | donor_gain | 1.0000 |
| 11:1558111:CCGA:C | donor_gain | 1.0000 |
| 11:1558267:AGATC:A | acceptor_gain | 1.0000 |
| 11:1558268:GATC:G | acceptor_gain | 1.0000 |
| 11:1558269:ATC:A | acceptor_gain | 1.0000 |
| 11:1558270:TC:T | acceptor_gain | 1.0000 |
| 11:1558271:CC:C | acceptor_gain | 1.0000 |
| 11:1558272:C:CC | acceptor_gain | 1.0000 |
| 11:1558272:C:T | acceptor_gain | 1.0000 |
| 11:1558272:CTGGA:C | acceptor_loss | 1.0000 |
| 11:1558282:G:T | acceptor_gain | 1.0000 |
| 11:1558888:C:G | donor_loss | 1.0000 |
| 11:1559051:GCCCC:G | acceptor_gain | 1.0000 |
| 11:1559052:CCCC:C | acceptor_gain | 1.0000 |
| 11:1559052:CCCCC:C | acceptor_gain | 1.0000 |
| 11:1559053:CCC:C | acceptor_gain | 1.0000 |
AlphaMissense
4013 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:1557518:A:G | L293P | 1.000 |
| 11:1557524:C:T | G291D | 1.000 |
| 11:1557525:C:G | G291R | 1.000 |
| 11:1557529:G:C | F289L | 1.000 |
| 11:1557529:G:T | F289L | 1.000 |
| 11:1557530:A:C | F289C | 1.000 |
| 11:1557530:A:G | F289S | 1.000 |
| 11:1557531:A:G | F289L | 1.000 |
| 11:1557532:G:C | N288K | 1.000 |
| 11:1557532:G:T | N288K | 1.000 |
| 11:1557536:A:G | F287S | 1.000 |
| 11:1557538:G:C | N286K | 1.000 |
| 11:1557538:G:T | N286K | 1.000 |
| 11:1557542:G:C | P285R | 1.000 |
| 11:1557542:G:T | P285H | 1.000 |
| 11:1557543:G:A | P285S | 1.000 |
| 11:1557543:G:T | P285T | 1.000 |
| 11:1557548:A:T | I283N | 1.000 |
| 11:1557558:G:C | R280G | 1.000 |
| 11:1557558:G:T | R280S | 1.000 |
| 11:1557565:C:A | K277N | 1.000 |
| 11:1557565:C:G | K277N | 1.000 |
| 11:1557567:T:C | K277E | 1.000 |
| 11:1557569:A:T | V276E | 1.000 |
| 11:1557572:A:G | F275S | 1.000 |
| 11:1557798:A:C | Y273D | 1.000 |
| 11:1557798:A:G | Y273H | 1.000 |
| 11:1557800:G:T | A272D | 1.000 |
| 11:1557833:A:T | I261N | 1.000 |
| 11:1557837:A:C | Y260D | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000029971 (11:1572792 C>A,G,T), RS1000102260 (11:1565528 C>T), RS1000229116 (11:1562597 G>A), RS1000429271 (11:1562807 C>T), RS1000548052 (11:1557114 G>C), RS1000568116 (11:1563699 C>T), RS1000568637 (11:1562128 A>G), RS1000592485 (11:1568467 T>C), RS1000660864 (11:1567402 C>A,T), RS1000747360 (11:1554150 G>C), RS1000900210 (11:1571945 G>A), RS1000936550 (11:1568714 T>C), RS1001346950 (11:1554456 A>G), RS1001388779 (11:1571461 G>A,C), RS1001507457 (11:1566677 C>A,T)
Disease associations
OMIM: gene MIM:602038 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| hereditary gingival fibromatosis | Limited | Autosomal dominant |
Mondo (1): hereditary gingival fibromatosis (MONDO:0016070)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005439_7 | Response to alcohol consumption (flushing response) | 4.000000e-06 |
| GCST006479_10 | Diverticular disease | 7.000000e-06 |
| GCST010703_211 | Brain morphology (MOSTest) | 2.000000e-11 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009959 | diverticular disease |
| EFO:0004346 | neuroimaging measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
59 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 2 |
| Phenylmercuric Acetate | increases expression, affects cotreatment | 2 |
| Valproic Acid | increases expression, increases methylation | 2 |
| Asbestos, Crocidolite | affects expression, increases expression | 2 |
| Particulate Matter | increases abundance, increases expression, decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| dicrotophos | increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| deoxynivalenol | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| sulforaphane | decreases expression | 1 |
| potassium chromate(VI) | affects cotreatment, increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | increases expression, affects cotreatment, affects response to substance | 1 |
| mercuric bromide | affects cotreatment, increases expression | 1 |
| epigallocatechin gallate | affects cotreatment, increases expression | 1 |
| 15-acetyldeoxynivalenol | 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 |
| 3,4,5,4’-tetramethoxystilbene | affects expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | decreases expression, affects cotreatment | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
| Febuxostat | increases expression | 1 |
| Resveratrol | increases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Leflunomide | increases expression | 1 |
| Acetaldehyde | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_F1RI | HyCyte MCF-7 KO-hDUSP8 | Cancer cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: hereditary gingival fibromatosis
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): hereditary gingival fibromatosis