DUSP11
gene geneOn this page
Also known as PIR1
Summary
DUSP11 (dual specificity phosphatase 11, HGNC:3066) is a protein-coding gene on chromosome 2p13.1, encoding RNA/RNP complex-1-interacting phosphatase (O75319). Possesses RNA 5’-triphosphatase and diphosphatase activities, but displays a poor protein-tyrosine phosphatase activity.
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 localized to the nucleus and binds directly to RNA and splicing factors, and thus it is suggested to participate in nuclear mRNA metabolism.
Source: NCBI Gene 8446 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 63 total
- MANE Select transcript:
NM_003584
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:3066 |
| Approved symbol | DUSP11 |
| Name | dual specificity phosphatase 11 |
| Location | 2p13.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PIR1 |
| Ensembl gene | ENSG00000144048 |
| Ensembl biotype | protein_coding |
| OMIM | 603092 |
| Entrez | 8446 |
Gene structure
Transcript identifiers
Ensembl transcripts: 17 — 13 protein_coding, 3 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000272444, ENST00000443070, ENST00000452812, ENST00000477458, ENST00000480948, ENST00000696050, ENST00000696051, ENST00000696052, ENST00000696053, ENST00000696054, ENST00000696055, ENST00000696056, ENST00000696057, ENST00000717658, ENST00000909492, ENST00000909493, ENST00000972157
RefSeq mRNA: 2 — MANE Select: NM_003584
NM_001424649, NM_003584
CCDS: CCDS1928
Canonical transcript exons
ENST00000272444 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001792898 | 73779874 | 73780103 |
| ENSE00003483768 | 73774913 | 73775044 |
| ENSE00003493881 | 73778301 | 73778376 |
| ENSE00003505998 | 73769265 | 73769325 |
| ENSE00003537651 | 73773800 | 73773923 |
| ENSE00003579562 | 73767161 | 73767207 |
| ENSE00004033068 | 73766418 | 73766594 |
| ENSE00004033069 | 73766828 | 73766903 |
| ENSE00004033181 | 73762213 | 73762859 |
Expression profiles
Bgee: expression breadth ubiquitous, 291 present calls, max score 95.11.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 43.4608 / max 271.5399, expressed in 1822 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 29149 | 41.3833 | 1821 |
| 29148 | 2.0775 | 1193 |
Top tissues by expression
298 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| esophagus squamous epithelium | UBERON:0006920 | 95.11 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 93.29 | gold quality |
| penis | UBERON:0000989 | 92.86 | gold quality |
| secondary oocyte | CL:0000655 | 92.61 | gold quality |
| calcaneal tendon | UBERON:0003701 | 91.48 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 91.13 | gold quality |
| upper leg skin | UBERON:0004262 | 91.02 | gold quality |
| esophagus mucosa | UBERON:0002469 | 90.96 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 90.95 | gold quality |
| mammalian vulva | UBERON:0000997 | 90.84 | gold quality |
| oral cavity | UBERON:0000167 | 90.73 | gold quality |
| gingiva | UBERON:0001828 | 90.72 | gold quality |
| endometrium epithelium | UBERON:0004811 | 90.62 | gold quality |
| gingival epithelium | UBERON:0001949 | 90.52 | gold quality |
| caput epididymis | UBERON:0004358 | 90.48 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 90.40 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 90.39 | gold quality |
| nasopharynx | UBERON:0001728 | 90.38 | gold quality |
| right uterine tube | UBERON:0001302 | 90.26 | gold quality |
| oocyte | CL:0000023 | 89.83 | gold quality |
| squamous epithelium | UBERON:0006914 | 89.08 | gold quality |
| bone marrow | UBERON:0002371 | 88.96 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 88.76 | gold quality |
| skin of abdomen | UBERON:0001416 | 88.76 | gold quality |
| skin of hip | UBERON:0001554 | 88.64 | gold quality |
| tonsil | UBERON:0002372 | 88.49 | gold quality |
| zone of skin | UBERON:0000014 | 88.46 | gold quality |
| vagina | UBERON:0000996 | 88.32 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 88.28 | gold quality |
| lymph node | UBERON:0000029 | 88.14 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.40 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): TP53
Literature-anchored findings (GeneRIF, showing 8)
- results suggest that DUSP11 contributes to p53-dependent inhibition of cell proliferation and that it might be involved in regulating RNA splicing through SAM68 (PMID:19120688)
- the atomic structure of a catalytically inactive mutant (C152S) of the human PIR1 phosphatase core (PIR1-core, residues 29-205), refined at 1.20 A resolution. (PMID:24447265)
- DUSP11 converts the 5’ triphosphate of miRNA precursors to a 5’ monophosphate, promoting loading of derivative 5p miRNAs into Argonaute proteins via a Dicer-coupled 5’ monophosphate-dependent strand selection mechanism. (PMID:27798849)
- DUSP11 regulates host and viral non-coding RNAs in mammalian cells. (PMID:28296624)
- PIR gene expression is highly dependent on the expression of HR-HPV E6 and E7 oncoproteins HPV-positive cell lines. (PMID:29118270)
- DUSP11 limits both miR-122-dependent and miR-122-independent Hepatitis C RNA accumulation. (PMID:29672716)
- Results implicate DUSP11 as an important component of XRN-mediated restriction of hepatitis C virus replication. (PMID:30038017)
- Atypical phosphatase DUSP11 inhibition promotes nc886 expression and potentiates gemcitabine-mediated cell death through NF-kB modulation. (PMID:39048662)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dusp11 | ENSDARG00000038156 |
| mus_musculus | Dusp11 | ENSMUSG00000030002 |
| rattus_norvegicus | Dusp11 | ENSRNOG00000045539 |
Paralogs (1): RNGTT (ENSG00000111880)
Protein
Protein identifiers
RNA/RNP complex-1-interacting phosphatase — O75319 (reviewed: O75319)
Alternative names: Dual specificity protein phosphatase 11, Phosphatase that interacts with RNA/RNP complex 1
All UniProt accessions (9): O75319, A0A8Q3SI82, A0A8Q3SI85, A0A8Q3SIB0, A0A8Q3SIC9, A0A8Q3SIE6, A0A8Q3SIF8, A0A8Q3WM77, H7C0E6
UniProt curated annotations — full annotation on UniProt →
Function. Possesses RNA 5’-triphosphatase and diphosphatase activities, but displays a poor protein-tyrosine phosphatase activity. In addition, has phosphatase activity with ATP, ADP and O-methylfluorescein phosphate (in vitro). Binds to RNA. May participate in nuclear mRNA metabolism.
Subunit / interactions. Monomer. May interact with SFRS7 and SFRS9/SRP30C.
Subcellular location. Nucleus. Nucleus speckle.
Miscellaneous. Produced by alternative initiation. Based on proteomic data. Major isoform.
Similarity. Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O75319-3 | 3 | yes |
| O75319-1 | 1 | |
| O75319-2 | 2 |
RefSeq proteins (2): NP_001411578, NP_003575* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000340 | Dual-sp_phosphatase_cat-dom | Domain |
| IPR000387 | Tyr_Pase_dom | Domain |
| IPR016130 | Tyr_Pase_AS | Active_site |
| IPR020422 | TYR_PHOSPHATASE_DUAL_dom | Domain |
| IPR029021 | Prot-tyrosine_phosphatase-like | Homologous_superfamily |
| IPR051029 |
Pfam: PF00782
UniProt features (33 total): helix 9, strand 6, mutagenesis site 5, sequence conflict 3, splice variant 3, active site 2, chain 1, domain 1, region of interest 1, compositionally biased region 1, binding site 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4NYH | X-RAY DIFFRACTION | 1.2 |
| 4MBB | X-RAY DIFFRACTION | 1.85 |
| 4JMJ | X-RAY DIFFRACTION | 2.38 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O75319-F1 | 69.34 | 0.52 |
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 (2): 152 (phosphocysteine intermediate); 158 (proton donor/acceptor)
Ligand- & substrate-binding residues (1): 153–158
Mutagenesis-validated functional residues (5):
| Position | Phenotype |
|---|---|
| 119 | no effect on phosphatase activity with atp and adp. |
| 152 | loss of activity. no effect in rna-binding. |
| 154 | strongly decreases phosphatase activity with atp and adp. |
| 157 | strongly decreases phosphatase activity with atp and adp. |
| 192 | slightly decreases phosphatase activity with atp. strongly decreases phosphatase activity with adp. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 131 (showing top):
RNGTGGGC_UNKNOWN, MORF_RAB5A, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, MORF_PSMC2, PUJANA_CHEK2_PCC_NETWORK, ZIC1_01, GENTILE_UV_HIGH_DOSE_DN, GENTILE_UV_RESPONSE_CLUSTER_D5, SCHLOSSER_SERUM_RESPONSE_DN, GOBP_DEPHOSPHORYLATION, GOBP_PROTEIN_DEPHOSPHORYLATION, ZHANG_BREAST_CANCER_PROGENITORS_UP, GOCC_NUCLEAR_SPECK
GO Biological Process (3): RNA processing (GO:0006396), protein dephosphorylation (GO:0006470), dephosphorylation (GO:0016311)
GO Molecular Function (7): RNA binding (GO:0003723), polynucleotide 5’-phosphatase activity (GO:0004651), protein tyrosine phosphatase activity (GO:0004725), phosphatase activity (GO:0016791), catalytic activity (GO:0003824), phosphoprotein phosphatase activity (GO:0004721), hydrolase activity (GO:0016787)
GO Cellular Component (6): fibrillar center (GO:0001650), nucleus (GO:0005634), nucleoplasm (GO:0005654), mitochondrion (GO:0005739), nuclear speck (GO:0016607), intercellular bridge (GO:0045171)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| phosphatase activity | 2 |
| intracellular membrane-bounded organelle | 2 |
| gene expression | 1 |
| RNA biosynthetic process | 1 |
| primary metabolic process | 1 |
| dephosphorylation | 1 |
| protein modification process | 1 |
| phosphate-containing compound metabolic process | 1 |
| nucleic acid binding | 1 |
| phosphoprotein phosphatase activity | 1 |
| phosphoric ester hydrolase activity | 1 |
| molecular_function | 1 |
| catalytic activity, acting on a protein | 1 |
| catalytic activity | 1 |
| nucleolus | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| nuclear ribonucleoprotein granule | 1 |
Protein interactions and networks
STRING
1084 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DUSP11 | DUSP5 | Q16690 | 894 |
| DUSP11 | RNF144B | Q7Z419 | 729 |
| DUSP11 | DXO | O77932 | 692 |
| DUSP11 | PIWIL1 | Q96J94 | 612 |
| DUSP11 | XRN1 | Q8IZH2 | 590 |
| DUSP11 | XRN2 | Q9H0D6 | 589 |
| DUSP11 | ERI1 | Q8IV48 | 501 |
| DUSP11 | DICER1 | Q9UPY3 | 501 |
| DUSP11 | ADARB1 | P78555 | 496 |
| DUSP11 | DUSP21 | Q9H596 | 487 |
| DUSP11 | DCP2 | Q8IU60 | 474 |
| DUSP11 | DUSP3 | P51452 | 460 |
| DUSP11 | SACK1H | Q6ZRV2 | 460 |
| DUSP11 | DUSP12 | Q9UNI6 | 442 |
| DUSP11 | DUSP22 | Q9NRW4 | 438 |
IntAct
69 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| NPM1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.610 |
| FGF3 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| APBA3 | DUSP11 | psi-mi:“MI:0914”(association) | 0.530 |
| KLHL40 | CBX4 | psi-mi:“MI:0914”(association) | 0.530 |
| PRR11 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| PRKCA | DUSP11 | psi-mi:“MI:0914”(association) | 0.530 |
| N | NOP56 | psi-mi:“MI:0914”(association) | 0.530 |
| HNRNPA1 | PTCD1 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNRD2 | MYO9A | psi-mi:“MI:0914”(association) | 0.530 |
| ZNRD2 | CCDC85C | psi-mi:“MI:0914”(association) | 0.530 |
| THOC1 | TARS3 | psi-mi:“MI:0914”(association) | 0.350 |
| HNRNPA1 | MATR3 | psi-mi:“MI:0914”(association) | 0.350 |
| Csde1 | TXNDC9 | psi-mi:“MI:0914”(association) | 0.350 |
| KIF11 | MAP4 | psi-mi:“MI:0914”(association) | 0.350 |
| Mecom | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| PLOD1 | COL25A1 | psi-mi:“MI:0914”(association) | 0.350 |
| APOBEC3D | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.350 |
| SYNCRIP | HNRNPR | psi-mi:“MI:0914”(association) | 0.350 |
| HNRNPA1 | HNRNPR | psi-mi:“MI:0914”(association) | 0.350 |
| AHCYL2 | AHCYL1 | psi-mi:“MI:0914”(association) | 0.350 |
| CIAO1 | SOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| FBLN5 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| NOTCH2 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (100): DUSP11 (Affinity Capture-MS), DUSP11 (Affinity Capture-MS), DUSP11 (Affinity Capture-MS), DUSP11 (Affinity Capture-MS), DUSP11 (Affinity Capture-MS), DUSP11 (Affinity Capture-MS), DUSP11 (Affinity Capture-MS), DUSP11 (Affinity Capture-MS), DUSP11 (Affinity Capture-MS), DUSP11 (Affinity Capture-MS), DUSP11 (Affinity Capture-MS), NIPAL4 (Affinity Capture-MS), DUSP11 (Affinity Capture-MS), RPS15 (Affinity Capture-MS), MRPS35 (Affinity Capture-MS)
ESM2 similar proteins: A2AD83, A3KMI0, A4Q9F0, A8WRV1, D4A280, O18017, O75319, O95835, P23293, P34442, P81299, Q04859, Q0IJ08, Q2M1K5, Q3MK94, Q4CQJ5, Q4DTX9, Q4KM79, Q5E999, Q5HYM0, Q5HZJ0, Q5U243, Q62726, Q6DJS0, Q6DTM3, Q6NXK5, Q6P158, Q6P5D3, Q6ZT98, Q6ZUT3, Q7PNM6, Q7ZXG4, Q8BGX1, Q8BMD7, Q8BY02, Q8BYR2, Q8C015, Q8K3Y6, Q8R151, Q8TE76
Diamond homologs: O10274, O55236, O60942, O75319, P24656, P34442, Q17607, Q22707, Q4KM79, Q5E999, Q6NXK5, Q6NY98, Q6NT99, Q9BVJ7, Q9P7H1, Q6PFY9, Q6CWR0
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 83 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 |
|---|---|---|---|
| Peptide chain elongation | 7 | 17.8× | 8e-06 |
| Viral mRNA Translation | 7 | 17.8× | 8e-06 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 7 | 17.6× | 8e-06 |
| Selenocysteine synthesis | 7 | 16.8× | 8e-06 |
| Eukaryotic Translation Termination | 7 | 16.8× | 8e-06 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 7 | 16.5× | 8e-06 |
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 7 | 16.5× | 8e-06 |
| Formation of a pool of free 40S subunits | 7 | 15.7× | 9e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| ribosomal small subunit biogenesis | 6 | 18.2× | 2e-04 |
| cytoplasmic translation | 7 | 17.3× | 7e-05 |
| negative regulation of translation | 5 | 13.1× | 3e-03 |
| translation | 7 | 9.6× | 1e-03 |
| mRNA splicing, via spliceosome | 7 | 8.6× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
63 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 43 |
| Likely benign | 6 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
885 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:73762856:TTTT:T | acceptor_gain | 1.0000 |
| 2:73762860:C:CC | acceptor_gain | 1.0000 |
| 2:73762861:T:C | acceptor_gain | 1.0000 |
| 2:73762861:T:TC | acceptor_gain | 1.0000 |
| 2:73762867:C:CT | acceptor_gain | 1.0000 |
| 2:73766821:GACTT:G | donor_loss | 1.0000 |
| 2:73766822:ACTT:A | donor_loss | 1.0000 |
| 2:73766823:CTTAC:C | donor_loss | 1.0000 |
| 2:73766824:TTA:T | donor_loss | 1.0000 |
| 2:73766825:TACT:T | donor_loss | 1.0000 |
| 2:73766826:A:AC | donor_gain | 1.0000 |
| 2:73766826:A:C | donor_loss | 1.0000 |
| 2:73766826:ACTTT:A | donor_gain | 1.0000 |
| 2:73766827:C:CT | donor_gain | 1.0000 |
| 2:73766827:CT:C | donor_gain | 1.0000 |
| 2:73766827:CTT:C | donor_gain | 1.0000 |
| 2:73766827:CTTT:C | donor_gain | 1.0000 |
| 2:73766827:CTTTC:C | donor_gain | 1.0000 |
| 2:73766899:GAATA:G | acceptor_gain | 1.0000 |
| 2:73766900:AATA:A | acceptor_gain | 1.0000 |
| 2:73766901:ATA:A | acceptor_gain | 1.0000 |
| 2:73766902:TA:T | acceptor_gain | 1.0000 |
| 2:73766904:C:CC | acceptor_gain | 1.0000 |
| 2:73767159:A:AC | donor_gain | 1.0000 |
| 2:73767160:C:CC | donor_gain | 1.0000 |
| 2:73767160:CA:C | donor_gain | 1.0000 |
| 2:73767160:CATT:C | donor_gain | 1.0000 |
| 2:73769260:CTTA:C | donor_loss | 1.0000 |
| 2:73769261:TTACC:T | donor_loss | 1.0000 |
| 2:73769262:TAC:T | donor_loss | 1.0000 |
AlphaMissense
2479 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:73769274:A:G | L209P | 0.996 |
| 2:73769285:C:A | R205S | 0.996 |
| 2:73769285:C:G | R205S | 0.996 |
| 2:73769286:C:A | R205M | 0.996 |
| 2:73773832:A:T | V181D | 0.996 |
| 2:73778329:A:G | F97S | 0.996 |
| 2:73769267:G:C | C211W | 0.995 |
| 2:73769286:C:G | R205T | 0.995 |
| 2:73769295:C:T | G202D | 0.995 |
| 2:73769310:A:T | V197D | 0.995 |
| 2:73773844:A:G | F177S | 0.995 |
| 2:73778316:T:A | K101N | 0.995 |
| 2:73778316:T:G | K101N | 0.995 |
| 2:73769280:C:T | G207D | 0.994 |
| 2:73769288:G:C | N204K | 0.994 |
| 2:73769288:G:T | N204K | 0.994 |
| 2:73769295:C:A | G202V | 0.994 |
| 2:73778373:C:A | W82C | 0.994 |
| 2:73778373:C:G | W82C | 0.994 |
| 2:73778375:A:G | W82R | 0.994 |
| 2:73778375:A:T | W82R | 0.994 |
| 2:73766899:G:C | F229L | 0.993 |
| 2:73766899:G:T | F229L | 0.993 |
| 2:73766901:A:G | F229L | 0.993 |
| 2:73769268:C:T | C211Y | 0.993 |
| 2:73769278:A:C | Y208D | 0.993 |
| 2:73773843:G:C | F177L | 0.993 |
| 2:73773843:G:T | F177L | 0.993 |
| 2:73773845:A:G | F177L | 0.993 |
| 2:73769269:A:G | C211R | 0.992 |
dbSNP variants (sampled 300 via entrez): RS1000366231 (2:73767723 T>C), RS1000529318 (2:73779275 T>C), RS1000530558 (2:73778545 C>T), RS1000782872 (2:73765849 T>C,G), RS1000801749 (2:73772605 G>A), RS1000957102 (2:73766081 G>A), RS1001081248 (2:73778884 C>A,T), RS1001136964 (2:73772898 C>G,T), RS1001353406 (2:73765768 T>C), RS1001382929 (2:73772717 A>G), RS1001475640 (2:73777408 C>G,T), RS1001505350 (2:73778087 T>C), RS1001528143 (2:73777822 A>C,T), RS1001838875 (2:73779473 A>G), RS1001867502 (2:73772786 A>G)
Disease associations
OMIM: gene MIM:603092 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000651_1 | Creatinine levels | 1.000000e-15 |
| GCST001220_3 | Metabolite levels | 1.000000e-11 |
| GCST006249_13 | Serum metabolite levels | 1.000000e-77 |
| GCST006249_37 | Serum metabolite levels | 9.000000e-13 |
| GCST006249_52 | Serum metabolite levels | 5.000000e-11 |
| GCST006249_62 | Serum metabolite levels | 7.000000e-24 |
| GCST006249_77 | Serum metabolite levels | 7.000000e-33 |
| GCST008153_48 | Lean body mass | 9.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004725 | metabolite measurement |
| EFO:0004995 | lean body mass |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Aflatoxin B1 | affects expression, increases expression | 3 |
| sodium arsenite | affects expression, decreases expression | 2 |
| Air Pollutants | affects expression, increases abundance, decreases expression | 2 |
| Benzo(a)pyrene | increases mutagenesis, increases expression | 2 |
| Cisplatin | increases expression | 2 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | decreases expression | 1 |
| 4-oxoretinoic acid | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| tanshinone | increases expression | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| chromium hexavalent ion | increases abundance, increases expression | 1 |
| azoxystrobin | increases expression | 1 |
| K 7174 | increases expression | 1 |
| abrine | increases expression | 1 |
| picoxystrobin | increases expression | 1 |
| Alitretinoin | decreases expression | 1 |
| Glyphosate | increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Gold | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Ribonucleotides | affects binding | 1 |
| Rotenone | increases expression | 1 |
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.