RWDD3
gene geneOn this page
Also known as DKFZP566K023RSUME
Summary
RWDD3 (RWD domain containing 3, HGNC:21393) is a protein-coding gene on chromosome 1p21.3, encoding RWD domain-containing protein 3 (Q9Y3V2). Enhancer of SUMO conjugation.
Involved in negative regulation of NF-kappaB transcription factor activity; positive regulation of hypoxia-inducible factor-1alpha signaling pathway; and positive regulation of protein sumoylation. Predicted to be located in cytoplasm and nucleus.
Source: NCBI Gene 25950 — RefSeq curated summary.
At a glance
- GWAS associations: 10
- Clinical variants (ClinVar): 36 total
- MANE Select transcript:
NM_015485
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21393 |
| Approved symbol | RWDD3 |
| Name | RWD domain containing 3 |
| Location | 1p21.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZP566K023, RSUME |
| Ensembl gene | ENSG00000122481 |
| Ensembl biotype | protein_coding |
| OMIM | 615875 |
| Entrez | 25950 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 9 protein_coding, 5 protein_coding_CDS_not_defined
ENST00000263893, ENST00000370202, ENST00000460571, ENST00000473397, ENST00000492639, ENST00000495272, ENST00000497058, ENST00000885950, ENST00000885951, ENST00000930351, ENST00000930352, ENST00000930353, ENST00000930354, ENST00000930355
RefSeq mRNA: 5 — MANE Select: NM_015485
NM_001128142, NM_001199682, NM_001278247, NM_001278248, NM_015485
CCDS: CCDS41357, CCDS44177
Canonical transcript exons
ENST00000370202 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001452058 | 95234210 | 95234315 |
| ENSE00003459137 | 95246756 | 95247225 |
| ENSE00003611796 | 95244211 | 95244698 |
| ENSE00003662186 | 95246542 | 95246657 |
Expression profiles
Bgee: expression breadth ubiquitous, 140 present calls, max score 93.85.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.1266 / max 110.7990, expressed in 1800 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 4126 | 11.9406 | 1789 |
| 4125 | 2.1860 | 1212 |
Top tissues by expression
143 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endometrium | UBERON:0001295 | 93.85 | gold quality |
| body of pancreas | UBERON:0001150 | 93.62 | gold quality |
| calcaneal tendon | UBERON:0003701 | 92.63 | gold quality |
| right lobe of liver | UBERON:0001114 | 92.15 | gold quality |
| nucleus accumbens | UBERON:0001882 | 91.76 | gold quality |
| amygdala | UBERON:0001876 | 91.71 | gold quality |
| putamen | UBERON:0001874 | 91.45 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 91.31 | gold quality |
| temporal lobe | UBERON:0001871 | 91.27 | gold quality |
| caudate nucleus | UBERON:0001873 | 91.05 | gold quality |
| corpus callosum | UBERON:0002336 | 91.01 | gold quality |
| adenohypophysis | UBERON:0002196 | 90.93 | gold quality |
| heart left ventricle | UBERON:0002084 | 90.91 | gold quality |
| uterus | UBERON:0000995 | 90.77 | gold quality |
| apex of heart | UBERON:0002098 | 90.66 | gold quality |
| metanephros cortex | UBERON:0010533 | 90.64 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 90.60 | gold quality |
| spinal cord | UBERON:0002240 | 90.55 | gold quality |
| Ammon’s horn | UBERON:0001954 | 90.41 | gold quality |
| substantia nigra | UBERON:0002038 | 90.29 | gold quality |
| fundus of stomach | UBERON:0001160 | 90.26 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 90.26 | gold quality |
| heart | UBERON:0000948 | 90.22 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 90.20 | gold quality |
| pituitary gland | UBERON:0000007 | 90.16 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 89.99 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 89.95 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 89.94 | gold quality |
| hypothalamus | UBERON:0001898 | 89.82 | gold quality |
| pancreas | UBERON:0001264 | 89.80 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.82 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
27 targeting RWDD3, 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-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-9902 | 99.89 | 69.15 | 2250 |
| HSA-MIR-3919 | 99.87 | 69.45 | 2489 |
| HSA-MIR-221-5P | 99.86 | 65.45 | 1052 |
| HSA-MIR-8073 | 99.86 | 65.21 | 1118 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4255 | 99.72 | 67.70 | 1541 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-4470 | 99.66 | 69.35 | 1767 |
| HSA-MIR-6516-3P | 99.65 | 68.57 | 1238 |
| HSA-MIR-3128 | 99.50 | 67.85 | 1258 |
| HSA-MIR-889-3P | 99.40 | 69.76 | 2103 |
| HSA-MIR-6853-3P | 99.36 | 70.79 | 1558 |
| HSA-MIR-4796-5P | 99.34 | 70.06 | 810 |
| HSA-MIR-5701 | 98.97 | 69.54 | 1502 |
| HSA-MIR-124-5P | 98.11 | 67.65 | 1095 |
| HSA-MIR-4670-3P | 97.37 | 68.35 | 1378 |
Literature-anchored findings (GeneRIF, showing 14)
- RSUME plays a central role in the regulation of sumoylation and, hence, several critical regulatory pathways in mammalian cells [RSUME]. (PMID:17956732)
- BMP-4 and RSUME may be interesting targets for inhibiting steps involved in pituitary tumorigenesis. (PMID:19407504)
- RSUME critically regulates HIF-1a and VEGF-A production and thus might play an important role in pituitary tumour neovascularisation (PMID:22009797)
- this study failed to replicate a GWAS reporting an association between the 2 SNPs rs2296308 in RWDD3 and rs1829 in the intron of TECTA and time to neuropathy in ovarian cancer patients treated with paclitaxel (PMID:22877241)
- a degree of redundancy of the RSUME variants on the SUMO pathway (PMID:23469069)
- RSUME interacts with glucocorticoid receptor and increases its SUMOylation and transcriptional activity, pointing to SUMO conjugation as the cause for transcriptional stimulation. (PMID:23508108)
- RSUME is expressed in VHL tumors and inhibits VHL and regulates its tumor suppressor function. (PMID:25500545)
- the present report suggest that the association of RWDD3 and TECTA with paclitaxel-induced peripheral neuropathy may have been a false positive signal (PMID:25549536)
- an important role of RSUME in cancer and inflammation (PMID:26297826)
- RSUME has a role in tumorigenesis and metastasis of pancreatic neuroendocrine tumors (PMID:27506944)
- RSUME affects post-transcriptional expression of HIF-1a by regulating VEGF-A secretion and pituitary adenoma cells invasiveness. (PMID:27989771)
- We found that PTTG overexpression in pituitary tumor cells is explained by its protein stabilization, is regulated by RSUME and accounts for PTTG tumor abundance and pathogenic action. There is no evidence so far that this mechanism operates in normal cells. This finding puts in a central role the protein stabilization-overexpression of proto-oncogenes as major regulators of cellular dysfunction. (PMID:29622689)
- The results show RSUME involvement in von Hippel-Lindau mutants deregulation that leads to the angiogenic phenotype of renal cell carcinoma tumors. (PMID:30890701)
- Impact of RSUME Actions on Biomolecular Modifications in Physio-Pathological Processes. (PMID:35528020)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Rwdd3 | ENSMUSG00000028133 |
| rattus_norvegicus | Rwdd3 | ENSRNOG00000029893 |
Protein
Protein identifiers
RWD domain-containing protein 3 — Q9Y3V2 (reviewed: Q9Y3V2)
Alternative names: RWD domain-containing sumoylation enhancer
All UniProt accessions (1): Q9Y3V2
UniProt curated annotations — full annotation on UniProt →
Function. Enhancer of SUMO conjugation. Via its interaction with UBE2I/UBC9, increases SUMO conjugation to proteins by promoting the binding of E1 and E2 enzymes, thioester linkage between SUMO and UBE2I/UBC9 and transfer of SUMO to specific target proteins which include HIF1A, PIAS, NFKBIA, NR3C1 and TOP1. Isoform 1 and isoform 2 positively regulate the NF-kappa-B signaling pathway by enhancing the sumoylation of NF-kappa-B inhibitor alpha (NFKBIA), promoting its stabilization which consequently leads to an increased inhibition of NF-kappa-B transcriptional activity. Isoform 1 and isoform 2 negatively regulate the hypoxia-inducible factor-1 alpha (HIF1A) signaling pathway by increasing the sumoylation of HIF1A, promoting its stabilization, transcriptional activity and the expression of its target gene VEGFA during hypoxia. Isoform 2 promotes the sumoylation and transcriptional activity of the glucocorticoid receptor NR3C1 and enhances the interaction of SUMO1 and NR3C1 with UBE2I/UBC9. Has no effect on ubiquitination.
Subunit / interactions. Isoform 1 and isoform 2 interact with UBE2I/UBC9. Isoform 1 shows a greater interaction with NFKBIA and HIF1A as compared to isoform 2. Isoform 2 interacts with NCOA2 and NR3C1.
Subcellular location. Nucleus. Cytoplasm.
Tissue specificity. Isoform 1 and isoform 2 are expressed in glioma tumors (at protein level). Expressed in a wide number of tissues with highest expression in cerebellum, pituitary, heart, kidney, liver, stomach, pancreas, prostate and spleen. Low levels in thalamus, spinal cord, esophagus, thymus, lung and peripheral blood leukocytes. A higher level expression seen in pituitary tumors as compared to the pituitary gland.
Domain organisation. The RWD domain is required for the sumoylation enhancement activity.
Induction. Induced by hypoxia and heat shock.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9Y3V2-1 | 1 | yes |
| Q9Y3V2-2 | 2 | |
| Q9Y3V2-3 | 3 | |
| Q9Y3V2-4 | 4 |
RefSeq proteins (5): NP_001121614, NP_001186611, NP_001265176, NP_001265177, NP_056300* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006575 | RWD_dom | Domain |
| IPR016135 | UBQ-conjugating_enzyme/RWD | Homologous_superfamily |
| IPR038840 | RWDD3 | Family |
Pfam: PF05773
UniProt features (26 total): helix 5, strand 5, turn 4, splice variant 4, region of interest 2, sequence variant 2, chain 1, domain 1, mutagenesis site 1, sequence conflict 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4Y1L | X-RAY DIFFRACTION | 2.7 |
| 2EBK | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y3V2-F1 | 82.31 | 0.26 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 61–62 | abolishes enhancement of nfkbia and nr3c1 sumoylation. no effect on nr3c1 transcriptional activity. |
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-3065678 | SUMO is transferred from E1 to E2 (UBE2I, UBC9) |
| R-HSA-2990846 | SUMOylation |
| R-HSA-3215018 | Processing and activation of SUMO |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-597592 | Post-translational protein modification |
MSigDB gene sets: 126 (showing top):
GOBP_REGULATION_OF_PROTEIN_SUMOYLATION, GOBP_PEPTIDYL_LYSINE_MODIFICATION, DAVICIONI_RHABDOMYOSARCOMA_PAX_FOXO1_FUSION_UP, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_LEVELS, GOBP_NEGATIVE_REGULATION_OF_NF_KAPPAB_TRANSCRIPTION_FACTOR_ACTIVITY, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM5, GOBP_RESPONSE_TO_OXYGEN_LEVELS, GOBP_PROTEIN_SUMOYLATION, GOBP_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, SCHLOSSER_SERUM_RESPONSE_DN, DEBIASI_APOPTOSIS_BY_REOVIRUS_INFECTION_UP, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_POSITIVE_REGULATION_OF_PROTEIN_SUMOYLATION
GO Biological Process (3): obsolete negative regulation of NF-kappaB transcription factor activity (GO:0032088), positive regulation of protein sumoylation (GO:0033235), positive regulation of hypoxia-inducible factor-1alpha signaling pathway (GO:1902073)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (2): nucleus (GO:0005634), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| Processing and activation of SUMO | 1 |
| Post-translational protein modification | 1 |
| SUMOylation | 1 |
| Metabolism of proteins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein sumoylation | 1 |
| regulation of protein sumoylation | 1 |
| positive regulation of protein modification by small protein conjugation or removal | 1 |
| hypoxia-inducible factor-1alpha signaling pathway | 1 |
| regulation of hypoxia-inducible factor-1alpha signaling pathway | 1 |
| positive regulation of intracellular signal transduction | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
308 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RWDD3 | UBE2I | P50550 | 829 |
| RWDD3 | SENP1 | Q9P0U3 | 542 |
| RWDD3 | RANBP2 | P49792 | 503 |
| RWDD3 | SUMO1 | P55856 | 446 |
| RWDD3 | S4R434 | S4R434 | 445 |
| RWDD3 | VHL | P40337 | 399 |
| RWDD3 | NUTM2F | A1L443 | 398 |
| RWDD3 | SUMO2 | P55855 | 391 |
| RWDD3 | TLCD4 | Q96MV1 | 369 |
| RWDD3 | GGH | Q92820 | 366 |
| RWDD3 | HIF1A | Q16665 | 364 |
| RWDD3 | CBX4 | O00257 | 349 |
| RWDD3 | SUMO4 | Q6EEV6 | 348 |
| RWDD3 | BRD3OS | A0A1B0GUI7 | 348 |
| RWDD3 | PIAS4 | Q8N2W9 | 325 |
IntAct
9 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| UBE2I | SUMO1 | psi-mi:“MI:0914”(association) | 0.950 |
| UBE2I | RWDD3 | psi-mi:“MI:0407”(direct interaction) | 0.610 |
| UBE2I | RWDD3 | psi-mi:“MI:0915”(physical association) | 0.610 |
| RWDD3 | UBE2I | psi-mi:“MI:0403”(colocalization) | 0.610 |
| UBE2I | RWDD3 | psi-mi:“MI:0403”(colocalization) | 0.610 |
| RWDD3 | SUMO1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RWDD3 | NFKBIA | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RWDD3 | HIF1A | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (15): RWDD3 (Affinity Capture-RNA), RWDD3 (Reconstituted Complex), RWDD3 (Affinity Capture-Western), VHL (Affinity Capture-Western), HIF1A (Affinity Capture-Western), RWDD3 (Reconstituted Complex), RWDD3 (Affinity Capture-MS), RWDD3 (Affinity Capture-MS), RWDD3 (Affinity Capture-Western), RWDD3 (Affinity Capture-MS), RWDD3 (Cross-Linking-MS (XL-MS)), SUMO1 (Affinity Capture-Western), UBE2I (Affinity Capture-Western), NFKBIA (Affinity Capture-Western), HIF1A (Affinity Capture-Western)
ESM2 similar proteins: A0JMU5, A1A5P5, A3KN24, A6QLC7, A9ULH0, B2RXC1, B5DF07, B6DMK2, B6NXD5, O60678, O70467, O75417, P0C7N0, Q08B12, Q14AI0, Q19QT9, Q28ES8, Q2KI89, Q32LH3, Q32NV1, Q32PH0, Q3EBC8, Q4R6P2, Q5E9U4, Q5R629, Q5RDC7, Q5XGG3, Q5ZI89, Q5ZJM3, Q641F8, Q68F70, Q6DHJ1, Q6GMB0, Q6GPP1, Q6NU25, Q6PBV4, Q6PD74, Q7Z392, Q8BP74, Q8BSA9
Diamond homologs: A3KN24, A9ULH0, P0C7N0, Q5RDC7, Q6PBV4, Q8VIL2, Q9Y3V2
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| RWDD3 | up-regulates | HIF1A | sumoylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
36 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 30 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
782 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:95234249:G:GT | donor_gain | 0.9900 |
| 1:95234297:G:GT | donor_gain | 0.9900 |
| 1:95234297:G:T | donor_gain | 0.9900 |
| 1:95234311:CTCAG:C | donor_loss | 0.9900 |
| 1:95234313:CAG:C | donor_loss | 0.9900 |
| 1:95234314:AGGTG:A | donor_loss | 0.9900 |
| 1:95234315:GG:G | donor_loss | 0.9900 |
| 1:95234316:GT:G | donor_loss | 0.9900 |
| 1:95234317:T:A | donor_loss | 0.9900 |
| 1:95244717:T:G | donor_gain | 0.9900 |
| 1:95246744:T:A | acceptor_loss | 0.9900 |
| 1:95246751:TGCA:T | acceptor_loss | 0.9900 |
| 1:95246752:GCA:G | acceptor_loss | 0.9900 |
| 1:95246753:CAG:C | acceptor_loss | 0.9900 |
| 1:95244209:A:AG | acceptor_gain | 0.9700 |
| 1:95244210:G:GG | acceptor_gain | 0.9700 |
| 1:95244634:G:GT | donor_gain | 0.9700 |
| 1:95246754:A:AG | acceptor_gain | 0.9500 |
| 1:95246755:G:GG | acceptor_gain | 0.9500 |
| 1:95244710:T:G | donor_gain | 0.9400 |
| 1:95246740:CTTTT:C | acceptor_loss | 0.9400 |
| 1:95234300:GTGC:G | donor_gain | 0.9300 |
| 1:95234301:TGCT:T | donor_gain | 0.9300 |
| 1:95234302:GCTG:G | donor_gain | 0.9300 |
| 1:95234303:C:CG | donor_gain | 0.9300 |
| 1:95244210:GA:G | acceptor_gain | 0.9300 |
| 1:95243745:G:T | donor_gain | 0.9200 |
| 1:95241984:T:TA | acceptor_gain | 0.9100 |
| 1:95244198:G:A | acceptor_gain | 0.9100 |
| 1:95234294:TGGG:T | donor_gain | 0.9000 |
AlphaMissense
1757 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:95244609:T:A | W162R | 0.987 |
| 1:95244609:T:C | W162R | 0.987 |
| 1:95246545:T:C | Y193H | 0.970 |
| 1:95246811:T:C | F249L | 0.970 |
| 1:95246813:T:A | F249L | 0.970 |
| 1:95246813:T:G | F249L | 0.970 |
| 1:95244588:T:C | Y155H | 0.968 |
| 1:95244640:T:C | L172P | 0.964 |
| 1:95244673:T:C | L183P | 0.962 |
| 1:95246545:T:G | Y193D | 0.962 |
| 1:95246546:A:C | Y193S | 0.962 |
| 1:95246577:T:A | D203E | 0.962 |
| 1:95246577:T:G | D203E | 0.962 |
| 1:95246766:T:C | F234L | 0.962 |
| 1:95246768:T:A | F234L | 0.962 |
| 1:95246768:T:G | F234L | 0.962 |
| 1:95246606:A:T | E213V | 0.961 |
| 1:95246604:A:C | K212N | 0.959 |
| 1:95246604:A:T | K212N | 0.959 |
| 1:95244569:C:A | H148Q | 0.958 |
| 1:95244569:C:G | H148Q | 0.958 |
| 1:95244611:G:C | W162C | 0.958 |
| 1:95244611:G:T | W162C | 0.958 |
| 1:95244575:A:C | R150S | 0.956 |
| 1:95244575:A:T | R150S | 0.956 |
| 1:95246800:T:C | L245S | 0.954 |
| 1:95244634:G:A | G170E | 0.950 |
| 1:95244645:T:C | F174L | 0.950 |
| 1:95244647:C:A | F174L | 0.950 |
| 1:95244647:C:G | F174L | 0.950 |
dbSNP variants (sampled 300 via entrez): RS1000049754 (1:95240946 G>A), RS1000081823 (1:95241278 G>A), RS1000149480 (1:95234568 C>T), RS1000287364 (1:95240565 C>T), RS1000452458 (1:95246440 A>G), RS1000500931 (1:95234369 G>C,T), RS1000696279 (1:95244644 G>A,C), RS1000770002 (1:95244984 G>C,T), RS1001023436 (1:95239034 A>T), RS1001233522 (1:95240247 C>T), RS1001348796 (1:95233172 G>A), RS1001784331 (1:95234205 G>A,C,T), RS1001816918 (1:95234452 G>A,C), RS1001965101 (1:95239848 A>G), RS1002008000 (1:95234611 C>A)
Disease associations
OMIM: gene MIM:615875 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
10 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001838_4 | Palmitic acid (16:0) levels | 3.000000e-11 |
| GCST001840_7 | Stearic acid (18:0) levels | 2.000000e-15 |
| GCST002701_35 | Verbal declarative memory | 9.000000e-06 |
| GCST002759_11 | Motion sickness | 4.000000e-14 |
| GCST004616_110 | Platelet distribution width | 4.000000e-09 |
| GCST007327_129 | Smoking status (ever vs never smokers) | 3.000000e-09 |
| GCST007576_304 | Chronotype | 7.000000e-09 |
| GCST008811_27 | Alcohol consumption (drinks per week) | 2.000000e-08 |
| GCST011125_14 | Caffeine consumption from coffee | 9.000000e-11 |
| GCST011494_5 | Daytime nap | 1.000000e-08 |
EFO canonical traits (8, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004874 | memory performance |
| EFO:0006805 | word list delayed recall measurement |
| EFO:0006928 | motion sickness |
| EFO:0007984 | platelet component distribution width |
| EFO:0004318 | smoking behavior |
| EFO:0008328 | chronotype measurement |
| EFO:0006781 | coffee consumption measurement |
| EFO:0007828 | daytime rest measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Estradiol | affects expression, decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| dicrotophos | decreases expression | 1 |
| bufotalin | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| trichostatin A | affects expression | 1 |
| methylparaben | decreases expression | 1 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 1 |
| scriptaid | decreases expression | 1 |
| suberoyl bis-hydroxamic acid | decreases expression | 1 |
| bisphenol S | increases expression, affects cotreatment | 1 |
| SB939 compound | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Air Pollutants | increases expression, increases abundance | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Camptothecin | increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Indomethacin | increases expression, affects cotreatment | 1 |
| Methotrexate | increases expression | 1 |
| Niclosamide | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Valproic Acid | decreases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Particulate Matter | increases abundance, 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.