PUM3
gene geneOn this page
Also known as XTP5PENPUF6hPUF-AHA-8Puf-A
Summary
PUM3 (pumilio RNA binding family member 3, HGNC:29676) is a protein-coding gene on chromosome 9p24.2, encoding Pumilio homolog 3 (Q15397). Inhibits the poly(ADP-ribosyl)ation activity of PARP1 and the degradation of PARP1 by CASP3 following genotoxic stress.
Enables RNA binding activity. Predicted to be involved in regulation of translation. Located in chromosome; endoplasmic reticulum; and nuclear lumen.
Source: NCBI Gene 9933 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 151 total — 1 pathogenic
- MANE Select transcript:
NM_014878
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29676 |
| Approved symbol | PUM3 |
| Name | pumilio RNA binding family member 3 |
| Location | 9p24.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | XTP5, PEN, PUF6, hPUF-A, HA-8, Puf-A |
| Ensembl gene | ENSG00000080608 |
| Ensembl biotype | protein_coding |
| OMIM | 609960 |
| Entrez | 9933 |
Gene structure
Transcript identifiers
Ensembl transcripts: 29 — 26 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000382032, ENST00000397885, ENST00000469168, ENST00000490444, ENST00000861028, ENST00000861029, ENST00000861030, ENST00000861031, ENST00000861032, ENST00000861033, ENST00000861034, ENST00000861035, ENST00000861036, ENST00000922205, ENST00000922206, ENST00000922207, ENST00000922208, ENST00000922209, ENST00000922210, ENST00000922211, ENST00000922212, ENST00000922213, ENST00000922214, ENST00000922215, ENST00000922216, ENST00000922217, ENST00000954334, ENST00000954335, ENST00000954336
RefSeq mRNA: 1 — MANE Select: NM_014878
NM_014878
CCDS: CCDS6448
Canonical transcript exons
ENST00000397885 — 18 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000686730 | 2810344 | 2810431 |
| ENSE00000813087 | 2807814 | 2807904 |
| ENSE00000982079 | 2831251 | 2831344 |
| ENSE00000982080 | 2830962 | 2831028 |
| ENSE00000982081 | 2829774 | 2829948 |
| ENSE00000982082 | 2828675 | 2828778 |
| ENSE00000982083 | 2827073 | 2827151 |
| ENSE00000982085 | 2823781 | 2823834 |
| ENSE00000982086 | 2820018 | 2820098 |
| ENSE00000982087 | 2812220 | 2812362 |
| ENSE00000982088 | 2811361 | 2811583 |
| ENSE00001028345 | 2833357 | 2833432 |
| ENSE00001088952 | 2824717 | 2824815 |
| ENSE00001530665 | 2844045 | 2844095 |
| ENSE00001596518 | 2837180 | 2837401 |
| ENSE00001603827 | 2834031 | 2834166 |
| ENSE00001784806 | 2838426 | 2838517 |
| ENSE00001914286 | 2804152 | 2804463 |
Expression profiles
Bgee: expression breadth ubiquitous, 264 present calls, max score 94.70.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.1351 / max 875.5705, expressed in 1777 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 99749 | 26.1351 | 1777 |
Top tissues by expression
284 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adrenal tissue | UBERON:0018303 | 94.70 | gold quality |
| calcaneal tendon | UBERON:0003701 | 92.83 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 92.29 | gold quality |
| esophagus mucosa | UBERON:0002469 | 92.26 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 91.85 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 91.83 | gold quality |
| metanephros cortex | UBERON:0010533 | 91.45 | gold quality |
| peritoneum | UBERON:0002358 | 91.31 | gold quality |
| omental fat pad | UBERON:0010414 | 91.31 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 91.04 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 91.04 | gold quality |
| left ovary | UBERON:0002119 | 91.00 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 90.62 | gold quality |
| minor salivary gland | UBERON:0001830 | 90.60 | gold quality |
| body of pancreas | UBERON:0001150 | 90.44 | gold quality |
| right ovary | UBERON:0002118 | 90.38 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 90.22 | gold quality |
| left uterine tube | UBERON:0001303 | 90.20 | gold quality |
| mouth mucosa | UBERON:0003729 | 89.96 | gold quality |
| rectum | UBERON:0001052 | 89.85 | gold quality |
| esophagus | UBERON:0001043 | 89.75 | gold quality |
| ventricular zone | UBERON:0003053 | 89.67 | gold quality |
| skin of abdomen | UBERON:0001416 | 89.54 | gold quality |
| tonsil | UBERON:0002372 | 89.49 | gold quality |
| sural nerve | UBERON:0015488 | 89.43 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 89.39 | gold quality |
| upper lobe of lung | UBERON:0008948 | 89.38 | gold quality |
| ovary | UBERON:0000992 | 89.28 | gold quality |
| islet of Langerhans | UBERON:0000006 | 89.11 | gold quality |
| right adrenal gland | UBERON:0001233 | 89.05 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-4850 | no | 3179.70 |
| E-MTAB-6142 | no | 218.07 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
21 targeting PUM3, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-3919 | 99.87 | 69.45 | 2489 |
| HSA-MIR-544A | 99.84 | 68.66 | 1965 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-6733-5P | 99.74 | 67.94 | 2759 |
| HSA-MIR-3153 | 99.55 | 67.59 | 2337 |
| HSA-MIR-6083 | 99.47 | 68.73 | 2393 |
| HSA-MIR-410-3P | 99.27 | 69.98 | 2457 |
| HSA-MIR-3925-5P | 99.21 | 67.90 | 1466 |
| HSA-MIR-4773 | 98.35 | 67.30 | 1710 |
| HSA-MIR-6502-3P | 97.86 | 65.43 | 569 |
Literature-anchored findings (GeneRIF, showing 2)
- Results indicate that mismatches in minor H antigens HA-8 (KIAA0020) and ACC-1 (BCL2A1) predisposed to chronic graft-versus-host disease (GvHD). (PMID:23480177)
- Phosphorylation of PUF-A/PUM3 on Y259 modulates PUF-A stability and cell proliferation. (PMID:34407138)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pum3 | ENSDARG00000087779 |
| mus_musculus | Pum3 | ENSMUSG00000041360 |
| rattus_norvegicus | Pum3 | ENSRNOG00000012574 |
| rattus_norvegicus | Pum3l1 | ENSRNOG00000048356 |
| drosophila_melanogaster | peng | FBGN0015527 |
| caenorhabditis_elegans | WBGENE00014165 |
Protein
Protein identifiers
Pumilio homolog 3 — Q15397 (reviewed: Q15397)
Alternative names: HBV X-transactivated gene 5 protein, HBV XAg-transactivated protein 5, Minor histocompatibility antigen HA-8
All UniProt accessions (2): Q15397, S4R3K8
UniProt curated annotations — full annotation on UniProt →
Function. Inhibits the poly(ADP-ribosyl)ation activity of PARP1 and the degradation of PARP1 by CASP3 following genotoxic stress. Binds to double-stranded RNA or DNA without sequence specificity. Involved in development of the eye and of primordial germ cells.
Subunit / interactions. Interacts with PARP1 (via catalytic domain).
Subcellular location. Nucleus. Nucleolus. Nucleoplasm. Chromosome.
Tissue specificity. Widely expressed.
Domain organisation. The HA-8 region can be cleaved and exposed at the cell surface where it plays a role as a minor histocompatibility HLA-A*0201-restricted antigen. A 90 degree bend between Pumilio repeats 3 and 4 gives rise to a L-shaped protein.
Polymorphism. The following alleles of HA-8 are known: HA-8R, HA-8P, HA-8PL, of which only HA-8R leads to specific cytotoxic T lymphocyte (CTL) recognition. The lack of CTL recognition of cells expressing HA-8P may be due to impaired transport associated with antigen processing. The sequence shown is that of HA-8R.
RefSeq proteins (1): NP_055693* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001313 | Pumilio_RNA-bd_rpt | Repeat |
| IPR011989 | ARM-like | Homologous_superfamily |
| IPR012959 | CPL_dom | Domain |
| IPR016024 | ARM-type_fold | Homologous_superfamily |
| IPR033133 | PUM-HD | Domain |
| IPR040059 | PUM3 | Family |
Pfam: PF08144
UniProt features (82 total): helix 45, repeat 11, turn 8, sequence variant 6, compositionally biased region 3, region of interest 2, strand 2, chain 1, domain 1, short sequence motif 1, modified residue 1, sequence conflict 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4WZR | X-RAY DIFFRACTION | 2.15 |
| 4WZW | X-RAY DIFFRACTION | 2.95 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q15397-F1 | 85.19 | 0.76 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 33
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 203 (showing top):
RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_REGULATION_OF_TRANSFERASE_ACTIVITY, TAKADA_GASTRIC_CANCER_COPY_NUMBER_DN, PUJANA_CHEK2_PCC_NETWORK, GOBP_TRANSLATION, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, SCHUHMACHER_MYC_TARGETS_UP, ONKEN_UVEAL_MELANOMA_UP, MYOD_01, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, YANG_BREAST_CANCER_ESR1_DN, BILD_E2F3_ONCOGENIC_SIGNATURE
GO Biological Process (2): regulation of translation (GO:0006417), regulation of protein ADP-ribosylation (GO:0010835)
GO Molecular Function (4): DNA binding (GO:0003677), RNA binding (GO:0003723), mRNA binding (GO:0003729), protein binding (GO:0005515)
GO Cellular Component (5): nucleoplasm (GO:0005654), chromosome (GO:0005694), nucleolus (GO:0005730), endoplasmic reticulum (GO:0005783), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| nucleic acid binding | 2 |
| nuclear lumen | 2 |
| intracellular membraneless organelle | 2 |
| intracellular membrane-bounded organelle | 2 |
| translation | 1 |
| post-transcriptional regulation of gene expression | 1 |
| regulation of protein metabolic process | 1 |
| regulation of transferase activity | 1 |
| NAD+-protein mono-ADP-ribosyltransferase activity | 1 |
| RNA binding | 1 |
| binding | 1 |
| cellular anatomical structure | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
Protein interactions and networks
STRING
2098 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PUM3 | EIF5B | O60841 | 723 |
| PUM3 | NOP9 | Q86U38 | 678 |
| PUM3 | HLA-A | P01891 | 678 |
| PUM3 | NME2 | P22392 | 621 |
| PUM3 | NSA2 | O95478 | 562 |
| PUM3 | RPF2 | Q9H7B2 | 526 |
| PUM3 | PUM1 | Q14671 | 515 |
| PUM3 | PUM2 | Q8TB72 | 500 |
| PUM3 | DDX27 | Q96GQ7 | 475 |
| PUM3 | ARHGAP45 | Q92619 | 470 |
| PUM3 | COX17 | Q14061 | 462 |
| PUM3 | SURF6 | O75683 | 455 |
| PUM3 | GNL2 | Q13823 | 452 |
| PUM3 | TMEM209 | Q96SK2 | 443 |
| PUM3 | PNO1 | Q9NRX1 | 440 |
IntAct
256 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MED23 | MED19 | psi-mi:“MI:2364”(proximity) | 0.770 |
| SRP68 | SRP72 | psi-mi:“MI:0914”(association) | 0.730 |
| RPL10A | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| RPL14 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| H1-1 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| NOP53 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| NOL12 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| NPM1 | NVL | psi-mi:“MI:0914”(association) | 0.610 |
| MAGEB10 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| H1-6 | ZNF724 | psi-mi:“MI:0914”(association) | 0.530 |
| RBM34 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| H1-4 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| ILF2 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL37A | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF2 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL18 | NOP56 | psi-mi:“MI:0914”(association) | 0.530 |
| MACROH2A2 | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| PRR11 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| MAK16 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF71 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| RPL30 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL8 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL18A | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| PUM3 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| PDGFB | DKC1 | psi-mi:“MI:0914”(association) | 0.530 |
| N | RBM47 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (392): KIAA0020 (Affinity Capture-RNA), KIAA0020 (Affinity Capture-RNA), KIAA0020 (Affinity Capture-RNA), KIAA0020 (Affinity Capture-MS), KIAA0020 (Affinity Capture-MS), KIAA0020 (Affinity Capture-MS), KIAA0020 (Affinity Capture-MS), KIAA0020 (Affinity Capture-MS), KIAA0020 (Affinity Capture-MS), KIAA0020 (Affinity Capture-MS), KIAA0020 (Affinity Capture-MS), KIAA0020 (Affinity Capture-MS), KIAA0020 (Affinity Capture-MS), KIAA0020 (Affinity Capture-MS), KIAA0020 (Affinity Capture-MS)
ESM2 similar proteins: A1Z3X3, A2AT37, A4GWN3, A5PKE4, B0UYI1, B2GV38, O08848, O35841, O43395, O75031, P49754, Q08CZ0, Q15397, Q15650, Q2HJ41, Q2T9K6, Q3UBZ5, Q5EAQ1, Q5KU39, Q5R5F1, Q5R644, Q5RCR8, Q5RE03, Q5U3V9, Q5VZK9, Q5XIC7, Q5ZJ85, Q5ZKG8, Q5ZMW3, Q676U5, Q6GLK9, Q6GMH0, Q6NYU2, Q7Z3V4, Q80UM3, Q80YQ8, Q8BHL5, Q8BM39, Q8R2M0, Q8WV92
Diamond homologs: Q09622, Q15397, Q562C7, Q9LRZ3, Q8BKS9, X1WGX5, Q04373, Q9UU76
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| “Cap-binding complex” | “down-regulates quantity by repression” | PUM3 | “post transcriptional regulation” |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 188 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 |
|---|---|---|---|
| Formation of Senescence-Associated Heterochromatin Foci (SAHF) | 6 | 35.4× | 3e-07 |
| Peptide chain elongation | 24 | 26.7× | 3e-26 |
| Viral mRNA Translation | 24 | 26.7× | 3e-26 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 24 | 26.4× | 3e-26 |
| Selenocysteine synthesis | 24 | 25.3× | 6e-26 |
| Eukaryotic Translation Termination | 24 | 25.3× | 6e-26 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 24 | 24.8× | 9e-26 |
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 24 | 24.8× | 9e-26 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of DNA recombination | 7 | 47.1× | 1e-08 |
| chromosome condensation | 7 | 35.3× | 8e-08 |
| maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | 5 | 28.0× | 5e-05 |
| cytoplasmic translation | 25 | 27.7× | 9e-27 |
| ribosomal large subunit biogenesis | 8 | 21.2× | 3e-07 |
| positive regulation of viral genome replication | 5 | 17.4× | 4e-04 |
| translation | 25 | 15.4× | 4e-20 |
| rRNA processing | 18 | 15.3× | 4e-14 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
151 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 117 |
| Likely benign | 3 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 563675 | GRCh37/hg19 9p24.3-23(chr9:203861-9306658)x1 | Pathogenic |
SpliceAI
2698 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:2804464:C:CC | acceptor_gain | 1.0000 |
| 9:2806445:T:C | acceptor_gain | 1.0000 |
| 9:2811605:G:GC | acceptor_gain | 1.0000 |
| 9:2811608:T:TC | acceptor_gain | 1.0000 |
| 9:2811624:C:CT | acceptor_gain | 1.0000 |
| 9:2823836:T:C | acceptor_gain | 1.0000 |
| 9:2827071:A:AC | donor_gain | 1.0000 |
| 9:2827072:C:CC | donor_gain | 1.0000 |
| 9:2827072:CTGAT:C | donor_gain | 1.0000 |
| 9:2828673:A:AC | donor_gain | 1.0000 |
| 9:2828674:C:CC | donor_gain | 1.0000 |
| 9:2828779:C:CC | acceptor_gain | 1.0000 |
| 9:2829760:T:TA | donor_gain | 1.0000 |
| 9:2829770:TCAC:T | donor_loss | 1.0000 |
| 9:2829771:CACCT:C | donor_loss | 1.0000 |
| 9:2829808:T:TA | donor_gain | 1.0000 |
| 9:2829944:TACTT:T | acceptor_gain | 1.0000 |
| 9:2829946:CTT:C | acceptor_gain | 1.0000 |
| 9:2829946:CTTC:C | acceptor_loss | 1.0000 |
| 9:2829947:TT:T | acceptor_gain | 1.0000 |
| 9:2829947:TTCTA:T | acceptor_loss | 1.0000 |
| 9:2829948:TC:T | acceptor_loss | 1.0000 |
| 9:2829949:C:A | acceptor_loss | 1.0000 |
| 9:2829949:C:CC | acceptor_gain | 1.0000 |
| 9:2829950:T:G | acceptor_loss | 1.0000 |
| 9:2829954:C:CT | acceptor_gain | 1.0000 |
| 9:2829956:C:CT | acceptor_gain | 1.0000 |
| 9:2829957:A:T | acceptor_gain | 1.0000 |
| 9:2829959:C:CT | acceptor_gain | 1.0000 |
| 9:2829961:C:CT | acceptor_gain | 1.0000 |
AlphaMissense
4303 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:2823826:T:A | K381N | 0.999 |
| 9:2823826:T:G | K381N | 0.999 |
| 9:2823829:C:A | R380S | 0.999 |
| 9:2823829:C:G | R380S | 0.999 |
| 9:2824717:C:A | K378N | 0.999 |
| 9:2824717:C:G | K378N | 0.999 |
| 9:2823827:T:A | K381I | 0.998 |
| 9:2823828:T:C | K381E | 0.998 |
| 9:2823830:C:A | R380M | 0.998 |
| 9:2823830:C:G | R380T | 0.998 |
| 9:2831320:G:T | R181S | 0.998 |
| 9:2834034:C:G | R146T | 0.998 |
| 9:2823814:T:A | K385N | 0.997 |
| 9:2823814:T:G | K385N | 0.997 |
| 9:2823815:T:A | K385I | 0.997 |
| 9:2823816:T:C | K385E | 0.997 |
| 9:2824727:C:T | G375D | 0.997 |
| 9:2824760:C:T | G364D | 0.997 |
| 9:2831319:C:G | R181P | 0.997 |
| 9:2831332:G:C | H177D | 0.997 |
| 9:2834033:T:A | R146S | 0.997 |
| 9:2834033:T:G | R146S | 0.997 |
| 9:2834047:A:G | W142R | 0.997 |
| 9:2834047:A:T | W142R | 0.997 |
| 9:2820049:T:C | D413G | 0.996 |
| 9:2820050:C:G | D413H | 0.996 |
| 9:2824719:T:C | K378E | 0.996 |
| 9:2829838:G:T | A263D | 0.996 |
| 9:2830983:A:T | V219D | 0.996 |
| 9:2831009:A:C | S210R | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000041588 (9:2840647 C>T), RS1000057532 (9:2835835 T>C), RS1000071404 (9:2804641 A>G), RS1000100594 (9:2837806 T>C), RS1000134480 (9:2824130 C>T), RS1000166631 (9:2839149 C>T), RS1000222758 (9:2842197 G>A), RS1000295043 (9:2814893 G>A,C), RS1000302035 (9:2810153 C>G), RS1000364099 (9:2820026 T>A,G), RS1000388103 (9:2815173 T>A), RS1000429986 (9:2835608 G>A), RS1000467686 (9:2823047 T>C), RS1000474777 (9:2837505 C>A,T), RS1000540782 (9:2822864 T>A,C)
Disease associations
OMIM: gene MIM:609960 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001762_367 | Obesity-related traits | 9.000000e-06 |
| GCST001762_499 | Obesity-related traits | 1.000000e-06 |
| GCST002039_5 | Blood trace element (Se levels) | 3.000000e-06 |
| GCST002187_8 | Systolic blood pressure in sickle cell anemia | 8.000000e-06 |
| GCST005839_13 | Depression | 2.000000e-08 |
| GCST006041_17 | Major depressive disorder | 4.000000e-08 |
| GCST008161_71 | Waist circumference adjusted for body mass index | 7.000000e-06 |
| GCST009391_1188 | Metabolite levels | 4.000000e-06 |
| GCST011703_91 | Smoking initiation | 2.000000e-08 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006336 | diastolic blood pressure |
| EFO:0004344 | birth weight |
| EFO:0006335 | systolic blood pressure |
| EFO:0007789 | BMI-adjusted waist circumference |
| EFO:0021575 | adipic acid measurement |
| EFO:0005670 | smoking initiation |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
40 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tretinoin | decreases expression | 4 |
| bisphenol A | affects cotreatment, affects methylation, decreases expression | 3 |
| Benzo(a)pyrene | decreases expression, affects methylation | 3 |
| Cyclosporine | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| deoxynivalenol | increases expression | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Fulvestrant | affects cotreatment, affects methylation | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Diethylstilbestrol | increases expression | 1 |
| Dimethyl Sulfoxide | affects expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | increases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Nickel | increases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_ZD04 | Mel 05.18 | Cancer cell line | Male |
| CVCL_ZD05 | Mel 06.07 | Cancer cell line | Male |
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.