DUSP12
gene geneOn this page
Also known as YVH1DUSP1
Summary
DUSP12 (dual specificity phosphatase 12, HGNC:3067) is a protein-coding gene on chromosome 1q23.3, encoding Dual specificity protein phosphatase 12 (Q9UNI6). Dual specificity phosphatase; can dephosphorylate both phosphotyrosine and phosphoserine or phosphothreonine residues.
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 is the human ortholog of the Saccharomyces cerevisiae YVH1 protein tyrosine phosphatase. It is localized predominantly in the nucleus, and is novel in that it contains, and is regulated by a zinc finger domain.
Source: NCBI Gene 11266 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 60 total
- MANE Select transcript:
NM_007240
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:3067 |
| Approved symbol | DUSP12 |
| Name | dual specificity phosphatase 12 |
| Location | 1q23.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | YVH1, DUSP1 |
| Ensembl gene | ENSG00000081721 |
| Ensembl biotype | protein_coding |
| OMIM | 604835 |
| Entrez | 11266 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 5 protein_coding, 3 nonsense_mediated_decay, 1 retained_intron
ENST00000367943, ENST00000463365, ENST00000464004, ENST00000484291, ENST00000490591, ENST00000881382, ENST00000931531, ENST00000954827, ENST00000954828
RefSeq mRNA: 1 — MANE Select: NM_007240
NM_007240
CCDS: CCDS1234
Canonical transcript exons
ENST00000367943 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000899911 | 161751668 | 161751781 |
| ENSE00001445976 | 161756786 | 161757238 |
| ENSE00001834189 | 161749786 | 161750145 |
| ENSE00003515472 | 161753075 | 161753261 |
| ENSE00003550275 | 161751866 | 161751984 |
| ENSE00003649014 | 161752368 | 161752464 |
Expression profiles
Bgee: expression breadth ubiquitous, 272 present calls, max score 91.45.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.0834 / max 150.4954, expressed in 1819 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 6278 | 23.0111 | 1819 |
| 6279 | 0.0722 | 24 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oocyte | CL:0000023 | 91.45 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 90.97 | gold quality |
| cerebellar cortex | UBERON:0002129 | 90.92 | gold quality |
| cortical plate | UBERON:0005343 | 90.74 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 90.60 | gold quality |
| cerebellum | UBERON:0002037 | 90.55 | gold quality |
| granulocyte | CL:0000094 | 90.41 | gold quality |
| embryo | UBERON:0000922 | 90.10 | gold quality |
| cerebellar vermis | UBERON:0004720 | 89.27 | gold quality |
| ganglionic eminence | UBERON:0004023 | 89.12 | gold quality |
| body of uterus | UBERON:0009853 | 88.80 | gold quality |
| left ovary | UBERON:0002119 | 88.48 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.17 | gold quality |
| lymph node | UBERON:0000029 | 88.01 | gold quality |
| monocyte | CL:0000576 | 87.95 | gold quality |
| left coronary artery | UBERON:0001626 | 87.91 | gold quality |
| superficial temporal artery | UBERON:0001614 | 87.90 | gold quality |
| mononuclear cell | CL:0000842 | 87.88 | gold quality |
| leukocyte | CL:0000738 | 87.83 | gold quality |
| thoracic aorta | UBERON:0001515 | 87.83 | gold quality |
| right coronary artery | UBERON:0001625 | 87.83 | gold quality |
| body of pancreas | UBERON:0001150 | 87.82 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 87.80 | gold quality |
| ascending aorta | UBERON:0001496 | 87.76 | gold quality |
| hair follicle | UBERON:0002073 | 87.64 | silver quality |
| ventricular zone | UBERON:0003053 | 87.53 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 87.51 | gold quality |
| coronary artery | UBERON:0001621 | 87.43 | gold quality |
| right ovary | UBERON:0002118 | 87.43 | gold quality |
| aorta | UBERON:0000947 | 87.38 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
21 targeting DUSP12, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-629-3P | 99.85 | 67.99 | 1875 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-4713-5P | 99.78 | 67.80 | 1794 |
| HSA-MIR-2116-3P | 99.74 | 64.32 | 889 |
| HSA-MIR-4422 | 99.72 | 72.07 | 2908 |
| HSA-MIR-105-5P | 99.54 | 69.24 | 2060 |
| HSA-MIR-7853-5P | 99.54 | 69.30 | 2055 |
| HSA-MIR-203A-3P | 99.49 | 70.56 | 2806 |
| HSA-MIR-889-3P | 99.40 | 69.76 | 2103 |
| HSA-MIR-4727-5P | 99.23 | 67.55 | 1154 |
| HSA-MIR-5590-5P | 98.81 | 68.78 | 969 |
| HSA-MIR-2276-3P | 98.76 | 67.75 | 1384 |
| HSA-MIR-3161 | 98.71 | 67.14 | 816 |
| HSA-MIR-4659B-5P | 98.03 | 66.84 | 979 |
| HSA-MIR-4659A-5P | 98.03 | 66.42 | 819 |
| HSA-MIR-4769-3P | 97.95 | 68.17 | 1002 |
| HSA-MIR-6817-5P | 97.95 | 67.86 | 1026 |
Literature-anchored findings (GeneRIF, showing 11)
- Our data suggest that sequences in or upstream of DUSP12 may contribute to type 2 diabetes susceptibility, but the lack of replication suggests a small effect size. (PMID:16936214)
- hYVH1 is a novel cell survival phosphatase that co-operates with Hsp70 to positively affect cell viability in response to cellular insults. (PMID:18973475)
- Data determined that hYVH1 forms intramolecular disulfide bonds at the catalytic cleft as well as within the zinc binding domain to avoid irreversible inactivation during severe oxidative stress. (PMID:19567874)
- tudies confirmed elevated expression of three target antigens RAB38, TBCE, and DUSP12 in CML. (PMID:20103624)
- these data suggests common SNPs within DUSP12-ATF6 locus may not play a major role in glucose metabolism in the Chinese. (PMID:21211013)
- hYVH1 is a novel modulator of cell cycle progression mediated by a phosphorylation site located at the C-terminal end of the zinc-binding domain (PMID:21521943)
- propose that the BRC repeats in BRCA2 cooperate in a partially redundant but reinforcing manner to ensure a high probability of RAD51 filament formation (PMID:21556130)
- Results from a study on gene variability markers in early-stage human embryos shows that DUSP12 is a putative variability marker for the 3-day, 8-cell embryo stage. (PMID:26288249)
- A significant decrease in DUSP12 expression in hypertrophic hearts and cardiomyocytes. (PMID:27702885)
- These results propagate a role for dual specificity phosphatases at RNP particles and suggest that hYVH1 may affect a variety of fundamental cellular processes by regulating messenger ribonucleoprotein (mRNP) dynamics. (PMID:27856639)
- Network analysis of DUSP12 partners in the nucleus under genotoxic stress. (PMID:30779967)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dusp12 | ENSDARG00000076330 |
| mus_musculus | Dusp12 | ENSMUSG00000026659 |
| rattus_norvegicus | Dusp12 | ENSRNOG00000003100 |
Paralogs (31): DUSP13B (ENSG00000079393), 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), DUSP14 (ENSG00000276023), DUSP13A (ENSG00000293543)
Protein
Protein identifiers
Dual specificity protein phosphatase 12 — Q9UNI6 (reviewed: Q9UNI6)
Alternative names: Dual specificity tyrosine phosphatase YVH1
All UniProt accessions (3): Q9UNI6, V9GY92, V9GYV5
UniProt curated annotations — full annotation on UniProt →
Function. Dual specificity phosphatase; can dephosphorylate both phosphotyrosine and phosphoserine or phosphothreonine residues. Can dephosphorylate glucokinase (in vitro). Has phosphatase activity with the synthetic substrate 6,8-difluoro-4-methylumbelliferyl phosphate and other in vitro substrates.
Subunit / interactions. Monomer.
Subcellular location. Nucleus. Cytoplasm. Cytosol.
Tissue specificity. Ubiquitous, highest expression in spleen, testis, ovary, and peripheral blood leukocytes and lower expression in liver and lung.
Cofactor. Binds 2 Zn(2+) ions per subunit.
Similarity. Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily.
RefSeq proteins (1): NP_009171* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000340 | Dual-sp_phosphatase_cat-dom | Domain |
| IPR000387 | Tyr_Pase_dom | Domain |
| IPR013087 | Znf_C2H2_type | Domain |
| IPR016278 | DUSP12 | Family |
| 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 (21 total): helix 8, strand 6, modified residue 2, chain 1, domain 1, active site 1, binding site 1, sequence variant 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4KI9 | X-RAY DIFFRACTION | 2 |
| 4JNB | X-RAY DIFFRACTION | 3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UNI6-F1 | 86.21 | 0.70 |
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): 115 (phosphocysteine intermediate)
Ligand- & substrate-binding residues (1): 116–121
Post-translational modifications (2): 1, 335
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 850 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_DN, GSE45365_NK_CELL_VS_CD8_TCELL_DN, GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, GSE45365_NK_CELL_VS_CD11B_DC_DN, GSE45365_NK_CELL_VS_BCELL_UP, ATF_B, BIOCARTA_TNFR2_PATHWAY, GGGACCA_MIR133A_MIR133B, GOBP_CHROMOSOME_ORGANIZATION, GOBP_NEGATIVE_REGULATION_OF_ERK1_AND_ERK2_CASCADE, GOBP_NEGATIVE_REGULATION_OF_REPRODUCTIVE_PROCESS, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_REGULATION_OF_CELL_CYCLE_CHECKPOINT, FREAC2_01
GO Biological Process (3): dephosphorylation (GO:0016311), protein modification process (GO:0036211), protein dephosphorylation (GO:0006470)
GO Molecular Function (10): protein serine/threonine phosphatase activity (GO:0004722), protein tyrosine phosphatase activity (GO:0004725), protein tyrosine/serine/threonine phosphatase activity (GO:0008138), zinc ion binding (GO:0008270), phosphatase activity (GO:0016791), kinase binding (GO:0019900), phosphoprotein phosphatase activity (GO:0004721), protein binding (GO:0005515), hydrolase activity (GO:0016787), metal ion binding (GO:0046872)
GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829)
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 |
| protein metabolic process | 1 |
| macromolecule modification | 1 |
| dephosphorylation | 1 |
| protein modification process | 1 |
| transition metal ion binding | 1 |
| phosphoric ester hydrolase activity | 1 |
| enzyme binding | 1 |
| phosphatase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
3180 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DUSP12 | FOS | P01100 | 769 |
| DUSP12 | JUN | P05412 | 746 |
| DUSP12 | MAPK1 | P28482 | 734 |
| DUSP12 | ATF3 | P18847 | 733 |
| DUSP12 | MRTO4 | Q9UKD2 | 731 |
| DUSP12 | MAPK8 | P45983 | 726 |
| DUSP12 | MAPK14 | Q16539 | 719 |
| DUSP12 | FOSB | P53539 | 708 |
| DUSP12 | NR4A1 | P22736 | 692 |
| DUSP12 | HSD17B12 | Q53GQ0 | 675 |
| DUSP12 | MAPK3 | P27361 | 632 |
| DUSP12 | BTG2 | P78543 | 627 |
| DUSP12 | EGFR | P00533 | 623 |
| DUSP12 | IL6 | P05231 | 607 |
| DUSP12 | DUSP2 | Q05923 | 606 |
IntAct
48 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CCNH | DUSP12 | psi-mi:“MI:0915”(physical association) | 0.780 |
| RABAC1 | DUSP12 | psi-mi:“MI:0915”(physical association) | 0.780 |
| DUSP12 | CCNH | psi-mi:“MI:0915”(physical association) | 0.780 |
| DUSP12 | RABAC1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| CALCOCO2 | DUSP12 | psi-mi:“MI:0915”(physical association) | 0.740 |
| DUSP12 | CALCOCO2 | psi-mi:“MI:0915”(physical association) | 0.740 |
| DUSP12 | EIF5 | psi-mi:“MI:0915”(physical association) | 0.720 |
| EIF5 | DUSP12 | psi-mi:“MI:0915”(physical association) | 0.720 |
| DUSP12 | PPP2R3B | psi-mi:“MI:0915”(physical association) | 0.670 |
| PPP2R3B | DUSP12 | psi-mi:“MI:0915”(physical association) | 0.670 |
| DUSP12 | USO1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HSPB8 | DUSP12 | psi-mi:“MI:0915”(physical association) | 0.560 |
| USO1 | DUSP12 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DUSP12 | HSPB8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| M6PR | DUSP12 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (74): DUSP12 (Two-hybrid), DUSP12 (Two-hybrid), DUSP12 (Two-hybrid), DUSP12 (Two-hybrid), DUSP12 (Two-hybrid), HSPB8 (Two-hybrid), PPP2R3B (Two-hybrid), DUSP12 (Two-hybrid), C21orf59 (Co-fractionation), DUSP12 (Co-fractionation), DUSP12 (Two-hybrid), PPP2R3B (Two-hybrid), DUSP12 (Affinity Capture-MS), DUSP13 (Affinity Capture-MS), PPM1A (Affinity Capture-MS)
ESM2 similar proteins: A2TF48, A5HNF6, A8QMS7, B3SRQ2, B3Y678, B3Y679, B3Y680, B3Y681, B3Y682, B3Y683, B6CJX2, C8BKC7, F1QWA8, I3L5V6, O02697, O88879, P0CI65, P22366, P42338, P48736, P52735, Q13158, Q28DJ2, Q3UR70, Q3V3E1, Q4LBC6, Q599T9, Q5FWM2, Q5XJ85, Q60992, Q61160, Q645M6, Q6AZT7, Q6Y1S1, Q7TNH6, Q7Z494, Q7ZYP6, Q803A6, Q8BGG7, Q8BTI9
Diamond homologs: A0A7H0DN78, P07239, P0C597, P0C598, P0C5A0, P0C5A1, P0DOQ5, P0DOQ6, P20495, P28191, P28562, P28563, P29074, P51452, P80994, Q05923, Q13115, Q16690, Q16828, Q2KJ36, Q4RQD3, Q54R42, Q54T76, Q5RD73, Q62767, Q64346, Q64623, Q6B8I0, Q6B8I1, Q84JU4, Q85297, Q8BFV3, Q90W58, Q91790, Q99956, Q9D0T2, Q9DBB1, Q9J592, Q9M8K7, Q9PW71
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| DUSP12 | “down-regulates activity” | MAP3K5 | dephosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
60 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 50 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
892 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:161751774:GAGGC:G | donor_gain | 1.0000 |
| 1:161751776:GGC:G | donor_gain | 1.0000 |
| 1:161751778:C:CG | donor_gain | 1.0000 |
| 1:161751782:G:GG | donor_gain | 1.0000 |
| 1:161751856:A:AG | acceptor_gain | 1.0000 |
| 1:161751857:T:G | acceptor_gain | 1.0000 |
| 1:161751859:A:AG | acceptor_gain | 1.0000 |
| 1:161751860:TTACA:T | acceptor_loss | 1.0000 |
| 1:161751861:TACA:T | acceptor_loss | 1.0000 |
| 1:161751862:A:AG | acceptor_gain | 1.0000 |
| 1:161751862:ACAG:A | acceptor_gain | 1.0000 |
| 1:161751864:A:AG | acceptor_gain | 1.0000 |
| 1:161751864:AG:A | acceptor_gain | 1.0000 |
| 1:161751864:AGGAT:A | acceptor_gain | 1.0000 |
| 1:161751865:G:A | acceptor_loss | 1.0000 |
| 1:161751865:G:GA | acceptor_gain | 1.0000 |
| 1:161751865:GG:G | acceptor_gain | 1.0000 |
| 1:161751865:GGA:G | acceptor_gain | 1.0000 |
| 1:161751865:GGAT:G | acceptor_gain | 1.0000 |
| 1:161751865:GGATG:G | acceptor_gain | 1.0000 |
| 1:161751980:TCCAG:T | donor_gain | 1.0000 |
| 1:161751981:CCAG:C | donor_gain | 1.0000 |
| 1:161751982:CAG:C | donor_gain | 1.0000 |
| 1:161751983:AG:A | donor_gain | 1.0000 |
| 1:161751983:AGGT:A | donor_loss | 1.0000 |
| 1:161751984:GG:G | donor_gain | 1.0000 |
| 1:161751984:GGTA:G | donor_loss | 1.0000 |
| 1:161751985:G:GG | donor_gain | 1.0000 |
| 1:161752366:A:AG | acceptor_gain | 1.0000 |
| 1:161752367:G:GG | acceptor_gain | 1.0000 |
AlphaMissense
2227 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:161753223:T:A | W275R | 0.998 |
| 1:161753223:T:C | W275R | 0.998 |
| 1:161756792:T:C | C290R | 0.997 |
| 1:161753225:G:C | W275C | 0.995 |
| 1:161753225:G:T | W275C | 0.995 |
| 1:161756822:T:C | F300L | 0.995 |
| 1:161756824:C:A | F300L | 0.995 |
| 1:161756824:C:G | F300L | 0.995 |
| 1:161752451:T:C | C221R | 0.994 |
| 1:161756828:T:A | W302R | 0.993 |
| 1:161756828:T:C | W302R | 0.993 |
| 1:161752451:T:A | C221S | 0.992 |
| 1:161752452:G:C | C221S | 0.992 |
| 1:161756792:T:A | C290S | 0.992 |
| 1:161756793:G:C | C290S | 0.992 |
| 1:161752460:T:C | C224R | 0.991 |
| 1:161756801:T:A | C293S | 0.991 |
| 1:161756802:G:C | C293S | 0.991 |
| 1:161752460:T:A | C224S | 0.990 |
| 1:161752461:G:C | C224S | 0.990 |
| 1:161756794:C:G | C290W | 0.990 |
| 1:161756801:T:C | C293R | 0.990 |
| 1:161756816:G:C | G298R | 0.990 |
| 1:161756874:T:C | F317S | 0.990 |
| 1:161751681:A:C | S120R | 0.989 |
| 1:161751683:T:A | S120R | 0.989 |
| 1:161751683:T:G | S120R | 0.989 |
| 1:161751879:T:C | F158L | 0.989 |
| 1:161751881:T:A | F158L | 0.989 |
| 1:161751881:T:G | F158L | 0.989 |
dbSNP variants (sampled 300 via entrez): RS1000018263 (1:161749677 CG>C), RS1000187820 (1:161748865 G>C,T), RS1001347210 (1:161749550 C>A), RS1001502933 (1:161755627 C>T), RS1001743802 (1:161751177 G>A,C), RS1001798775 (1:161757680 CATT>C), RS1001828511 (1:161754353 A>T), RS1002091331 (1:161750924 C>T), RS1003506027 (1:161752780 G>A), RS1003855000 (1:161749362 T>A,G), RS1003858698 (1:161749626 G>C,T), RS1003986575 (1:161752957 T>C), RS1004028595 (1:161757630 G>A), RS1005449746 (1:161753712 A>C,T), RS1005586759 (1:161750733 C>G,T)
Disease associations
OMIM: gene MIM:604835 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005987_23 | Albumin-globulin ratio | 6.000000e-15 |
| GCST005990_39 | Non-albumin protein levels | 4.000000e-21 |
| GCST006000_1 | Immunoglobulin measurement (zinc sulfate turbidity test) | 3.000000e-13 |
| GCST90011900_53 | Serum alkaline phosphatase levels | 3.000000e-11 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005128 | albumin:globulin ratio measurement |
| EFO:0004533 | alkaline phosphatase measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
1 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs881152 | Efficacy | 3 | salbutamol | Asthma |
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs881152 | DUSP1 | 3 | 0.75 | 1 | salbutamol |
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases reaction, increases expression, decreases activity, decreases expression | 3 |
| Air Pollutants | increases abundance, increases expression, decreases expression | 2 |
| Benzo(a)pyrene | affects methylation, increases expression | 2 |
| Valproic Acid | affects expression, decreases methylation | 2 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 2 |
| Particulate Matter | increases abundance, increases expression, decreases expression | 2 |
| bisphenol A | affects expression | 1 |
| cobaltous chloride | increases expression | 1 |
| manganese chloride | decreases expression, increases abundance | 1 |
| cylindrospermopsin | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| abrine | increases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Antimony Potassium Tartrate | increases expression, decreases reaction | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Catechin | decreases expression, affects cotreatment | 1 |
| Ivermectin | decreases expression | 1 |
| Manganese | decreases expression, increases abundance | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Smoke | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Aflatoxin B1 | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B6SE | HEK293 GFP-DUSP12 | Transformed cell line | Female |
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.