WDR75
gene geneOn this page
Also known as FLJ12519NET16UTP17
Summary
WDR75 (WD repeat domain 75, HGNC:25725) is a protein-coding gene on chromosome 2q32.2, encoding WD repeat-containing protein 75 (Q8IWA0). Ribosome biogenesis factor. It is a common-essential gene (DepMap: required in 99.6% of cancer cell lines).
Enables RNA binding activity. Involved in positive regulation of rRNA processing; positive regulation of transcription by RNA polymerase I; and ribosomal small subunit biogenesis. Located in nucleolus. Part of small-subunit processome.
Source: NCBI Gene 84128 — RefSeq curated summary.
At a glance
- GWAS associations: 10
- Clinical variants (ClinVar): 106 total
- Cancer dependency (DepMap): dependent in 99.6% of screened cell lines (common-essential)
- MANE Select transcript:
NM_032168
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25725 |
| Approved symbol | WDR75 |
| Name | WD repeat domain 75 |
| Location | 2q32.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ12519, NET16, UTP17 |
| Ensembl gene | ENSG00000115368 |
| Ensembl biotype | protein_coding |
| OMIM | 620341 |
| Entrez | 84128 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 8 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay
ENST00000314761, ENST00000427960, ENST00000436347, ENST00000472286, ENST00000475596, ENST00000498365, ENST00000631047, ENST00000873640, ENST00000922924, ENST00000922925, ENST00000922926, ENST00000922927, ENST00000922928
RefSeq mRNA: 2 — MANE Select: NM_032168
NM_001303096, NM_032168
CCDS: CCDS2298
Canonical transcript exons
ENST00000314761 — 21 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001070666 | 189441474 | 189441578 |
| ENSE00001233905 | 189475213 | 189475552 |
| ENSE00003462757 | 189463694 | 189463753 |
| ENSE00003494394 | 189466425 | 189466582 |
| ENSE00003494695 | 189469344 | 189469439 |
| ENSE00003495544 | 189458753 | 189458872 |
| ENSE00003504762 | 189470819 | 189470878 |
| ENSE00003507228 | 189474717 | 189474808 |
| ENSE00003507351 | 189468475 | 189468569 |
| ENSE00003513124 | 189463846 | 189463961 |
| ENSE00003536714 | 189467468 | 189467648 |
| ENSE00003537595 | 189474186 | 189474332 |
| ENSE00003539395 | 189462484 | 189462642 |
| ENSE00003577705 | 189450903 | 189450968 |
| ENSE00003589568 | 189457311 | 189457381 |
| ENSE00003605154 | 189448379 | 189448508 |
| ENSE00003606347 | 189465079 | 189465254 |
| ENSE00003639176 | 189459336 | 189459424 |
| ENSE00003655735 | 189451805 | 189451895 |
| ENSE00003662349 | 189455320 | 189455444 |
| ENSE00003677252 | 189470076 | 189470245 |
Expression profiles
Bgee: expression breadth ubiquitous, 260 present calls, max score 93.58.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.9946 / max 429.4280, expressed in 1803 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 24251 | 26.7468 | 1797 |
| 24250 | 3.2478 | 1379 |
Top tissues by expression
262 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| upper arm skin | UBERON:0004263 | 93.58 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 93.47 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 93.30 | gold quality |
| kidney epithelium | UBERON:0004819 | 93.02 | gold quality |
| myocardium | UBERON:0002349 | 92.51 | gold quality |
| cartilage tissue | UBERON:0002418 | 92.45 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 92.31 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 92.27 | gold quality |
| calcaneal tendon | UBERON:0003701 | 92.18 | gold quality |
| body of uterus | UBERON:0009853 | 92.07 | gold quality |
| left ovary | UBERON:0002119 | 92.04 | gold quality |
| right ovary | UBERON:0002118 | 91.98 | gold quality |
| oocyte | CL:0000023 | 91.72 | gold quality |
| endometrium | UBERON:0001295 | 91.43 | gold quality |
| ovary | UBERON:0000992 | 91.32 | gold quality |
| mucosa of stomach | UBERON:0001199 | 91.28 | gold quality |
| endocervix | UBERON:0000458 | 91.22 | gold quality |
| uterus | UBERON:0000995 | 91.12 | gold quality |
| lymph node | UBERON:0000029 | 91.00 | gold quality |
| superficial temporal artery | UBERON:0001614 | 91.00 | gold quality |
| rectum | UBERON:0001052 | 90.99 | gold quality |
| left uterine tube | UBERON:0001303 | 90.94 | gold quality |
| corpus callosum | UBERON:0002336 | 90.77 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 90.73 | gold quality |
| ectocervix | UBERON:0012249 | 90.64 | gold quality |
| uterine cervix | UBERON:0000002 | 90.62 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 90.53 | gold quality |
| right uterine tube | UBERON:0001302 | 90.51 | gold quality |
| body of pancreas | UBERON:0001150 | 90.47 | gold quality |
| adrenal tissue | UBERON:0018303 | 90.43 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.97 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
9 targeting WDR75, 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-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-2053 | 99.57 | 69.15 | 1635 |
| HSA-MIR-4328 | 99.57 | 71.06 | 4094 |
| HSA-MIR-374A-3P | 98.87 | 67.82 | 1531 |
| HSA-MIR-4773 | 98.35 | 67.30 | 1710 |
| HSA-MIR-217-3P | 95.67 | 68.42 | 1000 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.6% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 1)
- RNA-interference screen for p53 regulators unveils a role of WDR75 in ribosome biogenesis. (PMID:34611297)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | wdr75 | ENSDARG00000040730 |
| mus_musculus | Wdr75 | ENSMUSG00000025995 |
| rattus_norvegicus | Wdr75 | ENSRNOG00000003825 |
Paralogs (26): PAFAH1B1 (ENSG00000007168), SNRNP40 (ENSG00000060688), WDR62 (ENSG00000075702), WDR7 (ENSG00000091157), TBL2 (ENSG00000106638), PAK1IP1 (ENSG00000111845), DCAF4 (ENSG00000119599), DAW1 (ENSG00000123977), TEP1 (ENSG00000129566), AHI1 (ENSG00000135541), WDR38 (ENSG00000136918), MAPKBP1 (ENSG00000137802), POC1B (ENSG00000139323), NEDD1 (ENSG00000139350), COP1 (ENSG00000143207), WDR17 (ENSG00000150627), WDR43 (ENSG00000163811), POC1A (ENSG00000164087), WDR88 (ENSG00000166359), WDR81 (ENSG00000167716), DCAF4L2 (ENSG00000176566), DCAF4L1 (ENSG00000182308), WDR27 (ENSG00000184465), NWD1 (ENSG00000188039), WDR5 (ENSG00000196363), WDR5B (ENSG00000196981)
Protein
Protein identifiers
WD repeat-containing protein 75 — Q8IWA0 (reviewed: Q8IWA0)
Alternative names: U3 small nucleolar RNA-associated protein 17 homolog
All UniProt accessions (3): Q8IWA0, F8WC81, F8WE20
UniProt curated annotations — full annotation on UniProt →
Function. Ribosome biogenesis factor. Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome. Involved in nucleolar processing of pre-18S ribosomal RNA. Required for optimal pre-ribosomal RNA transcription by RNA polymerase I.
Subunit / interactions. Component of the proposed t-UTP subcomplex of the ribosomal small subunit (SSU) processome. SSU processome is composed of more than 70 proteins and the RNA chaperone small nucleolar RNA (snoRNA) U3.
Subcellular location. Nucleus. Nucleolus.
RefSeq proteins (2): NP_001290025, NP_115544* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001680 | WD40_rpt | Repeat |
| IPR011047 | Quinoprotein_ADH-like_sf | Homologous_superfamily |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR053826 | WDR75 | Family |
| IPR057644 | Beta-prop_WDR75_2nd | Domain |
Pfam: PF23769, PF23869
UniProt features (33 total): repeat 13, modified residue 7, sequence conflict 7, cross-link 3, chain 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7MQA | ELECTRON MICROSCOPY | 2.7 |
| 7MQ8 | ELECTRON MICROSCOPY | 3.6 |
| 7MQ9 | ELECTRON MICROSCOPY | 3.87 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IWA0-F1 | 80.43 | 0.49 |
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 (10): 466, 664, 672, 779, 782, 796, 811, 123, 427, 676
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-6790901 | rRNA modification in the nucleus and cytosol |
| R-HSA-6791226 | Major pathway of rRNA processing in the nucleolus and cytosol |
MSigDB gene sets: 155 (showing top):
GSE45365_NK_CELL_VS_BCELL_UP, MODULE_97, GOBP_RIBOSOME_BIOGENESIS, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_MATURATION_OF_SSU_RRNA, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, MODULE_182, WEI_MYCN_TARGETS_WITH_E_BOX, MARTINEZ_RB1_TARGETS_DN, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_RIBOSOMAL_SMALL_SUBUNIT_BIOGENESIS, DODD_NASOPHARYNGEAL_CARCINOMA_UP
GO Biological Process (5): rRNA processing (GO:0006364), ribosomal small subunit biogenesis (GO:0042274), positive regulation of transcription by RNA polymerase I (GO:0045943), positive regulation of rRNA processing (GO:2000234), ribosome biogenesis (GO:0042254)
GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (4): nucleoplasm (GO:0005654), nucleolus (GO:0005730), small-subunit processome (GO:0032040), nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| rRNA processing in the nucleus and cytosol | 2 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| ribosome biogenesis | 2 |
| ribonucleoprotein complex biogenesis | 2 |
| nuclear lumen | 2 |
| RNA processing | 1 |
| rRNA metabolic process | 1 |
| regulation of transcription by RNA polymerase I | 1 |
| transcription by RNA polymerase I | 1 |
| positive regulation of DNA-templated transcription | 1 |
| rRNA processing | 1 |
| positive regulation of RNA metabolic process | 1 |
| regulation of rRNA processing | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| cellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| nucleolus | 1 |
| preribosome | 1 |
| t-UTP complex | 1 |
| nuclear protein-containing complex | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
2353 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| WDR75 | UTP15 | Q8TED0 | 941 |
| WDR75 | WDR43 | Q15061 | 935 |
| WDR75 | UTP4 | Q969X6 | 919 |
| WDR75 | HEATR1 | Q9H583 | 914 |
| WDR75 | MPHOSPH10 | O00566 | 703 |
| WDR75 | WDR36 | Q8NI36 | 665 |
| WDR75 | UTP18 | Q9Y5J1 | 646 |
| WDR75 | UTP20 | O75691 | 635 |
| WDR75 | WDR46 | O15213 | 625 |
| WDR75 | NOP58 | Q9Y2X3 | 589 |
| WDR75 | SNU13 | P55769 | 579 |
| WDR75 | BMS1 | Q14692 | 579 |
| WDR75 | UTP6 | Q9NYH9 | 578 |
| WDR75 | PWP2 | Q15269 | 576 |
| WDR75 | TBL3 | Q12788 | 560 |
IntAct
97 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| C1D | ZFC3H1 | psi-mi:“MI:0914”(association) | 0.640 |
| CACNB1 | CACNB3 | psi-mi:“MI:0914”(association) | 0.640 |
| NIPAL1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.640 |
| EXOSC5 | ZFC3H1 | psi-mi:“MI:0914”(association) | 0.640 |
| EXOSC3 | MTREX | psi-mi:“MI:0914”(association) | 0.640 |
| NOL7 | WDR43 | psi-mi:“MI:0914”(association) | 0.640 |
| PWP2 | FBL | psi-mi:“MI:0914”(association) | 0.610 |
| PLEK | WDR75 | psi-mi:“MI:0915”(physical association) | 0.590 |
| ASB7 | POLR3A | psi-mi:“MI:0914”(association) | 0.530 |
| SERPINA12 | TSPAN6 | psi-mi:“MI:0914”(association) | 0.530 |
| NOL11 | WDR43 | psi-mi:“MI:0914”(association) | 0.530 |
| WDR75 | WDR43 | psi-mi:“MI:0914”(association) | 0.530 |
| FBL | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| UTP4 | ANKRD28 | psi-mi:“MI:0914”(association) | 0.530 |
| RBM4 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| WDR43 | WDR75 | psi-mi:“MI:0914”(association) | 0.530 |
| NOL7 | IPO5 | psi-mi:“MI:0914”(association) | 0.530 |
| MPHOSPH6 | ZFC3H1 | psi-mi:“MI:0914”(association) | 0.530 |
| Smad3 | psi-mi:“MI:0914”(association) | 0.350 | |
| CEP170P1 | PCYT1A | psi-mi:“MI:0914”(association) | 0.350 |
| ATP6AP2 | TMUB1 | psi-mi:“MI:0914”(association) | 0.350 |
| Srp72 | psi-mi:“MI:0914”(association) | 0.350 | |
| KIF21B | psi-mi:“MI:0914”(association) | 0.350 | |
| Setdb1 | INPP5B | psi-mi:“MI:0914”(association) | 0.350 |
| EXOSC5 | PAPD5 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (144): WDR75 (Affinity Capture-MS), WDR75 (Affinity Capture-MS), WDR75 (Affinity Capture-MS), WDR75 (Affinity Capture-MS), WDR75 (Affinity Capture-MS), WDR75 (Affinity Capture-MS), WDR75 (Affinity Capture-MS), WDR75 (Affinity Capture-MS), WDR75 (Affinity Capture-MS), WDR75 (Affinity Capture-MS), WDR75 (Affinity Capture-MS), WDR75 (Affinity Capture-MS), WDR75 (Affinity Capture-MS), WDR75 (Affinity Capture-MS), WDR75 (Affinity Capture-MS)
ESM2 similar proteins: A0A0G2JEB6, A0JM56, B0DOB4, B0FXQ5, B1ANS9, B4F7L9, B4GQJ7, B5DHW4, B7FF06, B7FF07, B7FF08, B7FF09, B7FF12, C5IAW9, F1LW30, F1P4W9, O08747, O95185, P0DM40, Q008S8, Q18264, Q32NR9, Q3V0B4, Q402B2, Q4G0P3, Q5R4M2, Q5T0N1, Q5XI14, Q6AXU1, Q6DCF6, Q6NRS1, Q6P2C0, Q6P5D8, Q6UXZ4, Q6ZTR5, Q6ZU64, Q761X5, Q7T2Z5, Q80W93, Q86YR7
Diamond homologs: A4RDD7, A6ZPA6, A7EF03, A7THX0, B3LJT5, B4HSL3, B4QHG6, B8P4B0, B8PD53, B9WD30, C4YPI7, C5DF48, C5DY07, C5FP68, C5MJE8, C7GWC1, C8ZH19, D3TLL6, D4AM37, D4D8P3, O00628, P39946, P97865, Q54WA3, Q5A7Q3, Q5A7Q6, Q6CJ50, Q6CU55, Q6DFC6, Q6FT96, Q6FWT9, Q759U7, Q7KNS3, Q7RXH4, Q8IWA0, Q8R537, Q8RXA7, Q9H2Y7, A0JMQ0, A2QP30
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| WDR75 | “form complex” | “UTP-A complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 129 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 |
|---|---|---|---|
| Nuclear RNA decay | 7 | 25.4× | 1e-06 |
| rRNA modification in the nucleus and cytosol | 9 | 19.8× | 1e-07 |
| Major pathway of rRNA processing in the nucleolus and cytosol | 17 | 12.3× | 9e-12 |
| mRNA Splicing | 9 | 11.6× | 5e-06 |
| Processing of Capped Intron-Containing Pre-mRNA | 10 | 9.7× | 5e-06 |
| mRNA Splicing - Major Pathway | 12 | 7.7× | 4e-06 |
| Metabolism of RNA | 14 | 6.9× | 1e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| maturation of SSU-rRNA | 5 | 32.5× | 6e-05 |
| RNA catabolic process | 5 | 19.3× | 6e-04 |
| ribosomal small subunit biogenesis | 9 | 17.4× | 7e-07 |
| rRNA processing | 11 | 13.2× | 4e-07 |
| RNA processing | 7 | 13.0× | 1e-04 |
| regulation of alternative mRNA splicing, via spliceosome | 6 | 12.4× | 8e-04 |
| RNA splicing | 11 | 8.2× | 2e-05 |
| mRNA splicing, via spliceosome | 8 | 6.2× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
106 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 76 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3245 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:189441553:A:T | donor_gain | 1.0000 |
| 2:189441571:GATTC:G | donor_gain | 1.0000 |
| 2:189441575:C:CG | donor_gain | 1.0000 |
| 2:189441579:G:GG | donor_gain | 1.0000 |
| 2:189448378:GGT:G | acceptor_gain | 1.0000 |
| 2:189448378:GGTAT:G | acceptor_gain | 1.0000 |
| 2:189450901:A:AG | acceptor_gain | 1.0000 |
| 2:189450902:G:GG | acceptor_gain | 1.0000 |
| 2:189450902:GCT:G | acceptor_gain | 1.0000 |
| 2:189450902:GCTGT:G | acceptor_gain | 1.0000 |
| 2:189455318:A:AG | acceptor_gain | 1.0000 |
| 2:189455319:G:GG | acceptor_gain | 1.0000 |
| 2:189455319:GA:G | acceptor_gain | 1.0000 |
| 2:189455319:GAT:G | acceptor_gain | 1.0000 |
| 2:189455319:GATA:G | acceptor_gain | 1.0000 |
| 2:189455319:GATAT:G | acceptor_gain | 1.0000 |
| 2:189455441:CGAGG:C | donor_loss | 1.0000 |
| 2:189455442:GAG:G | donor_gain | 1.0000 |
| 2:189455442:GAGG:G | donor_loss | 1.0000 |
| 2:189455445:GT:G | donor_loss | 1.0000 |
| 2:189455446:T:A | donor_loss | 1.0000 |
| 2:189458905:T:G | donor_gain | 1.0000 |
| 2:189460374:G:GT | donor_gain | 1.0000 |
| 2:189460374:G:T | donor_gain | 1.0000 |
| 2:189462347:A:G | donor_gain | 1.0000 |
| 2:189462445:A:AG | acceptor_gain | 1.0000 |
| 2:189462446:A:AG | acceptor_gain | 1.0000 |
| 2:189462447:A:G | acceptor_gain | 1.0000 |
| 2:189462448:A:G | acceptor_gain | 1.0000 |
| 2:189462449:C:G | acceptor_gain | 1.0000 |
AlphaMissense
5496 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:189450939:T:A | W85R | 0.999 |
| 2:189450939:T:C | W85R | 0.999 |
| 2:189462498:A:C | S265R | 0.999 |
| 2:189462500:T:A | S265R | 0.999 |
| 2:189462500:T:G | S265R | 0.999 |
| 2:189466552:T:A | W473R | 0.999 |
| 2:189466552:T:C | W473R | 0.999 |
| 2:189467482:T:A | W488R | 0.999 |
| 2:189467482:T:C | W488R | 0.999 |
| 2:189458857:G:T | G225V | 0.998 |
| 2:189458871:T:A | W230R | 0.998 |
| 2:189458871:T:C | W230R | 0.998 |
| 2:189462528:T:A | W275R | 0.998 |
| 2:189462528:T:C | W275R | 0.998 |
| 2:189463897:T:A | V350D | 0.998 |
| 2:189463921:T:C | L358P | 0.998 |
| 2:189467590:T:A | W524R | 0.998 |
| 2:189467590:T:C | W524R | 0.998 |
| 2:189458839:C:A | A219E | 0.997 |
| 2:189458857:G:A | G225D | 0.997 |
| 2:189458866:G:C | R228P | 0.997 |
| 2:189459382:T:A | W246R | 0.997 |
| 2:189459382:T:C | W246R | 0.997 |
| 2:189465170:T:C | L402P | 0.997 |
| 2:189466520:T:A | V462D | 0.997 |
| 2:189470204:T:A | W650R | 0.997 |
| 2:189470204:T:C | W650R | 0.997 |
| 2:189458845:G:A | G221D | 0.996 |
| 2:189462520:T:C | L272P | 0.996 |
| 2:189465229:T:A | W422R | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000100795 (2:189441546 C>A), RS1000265209 (2:189472693 G>A), RS1000342115 (2:189448036 T>C), RS1000472594 (2:189459359 A>C), RS1000551485 (2:189440011 G>A,C), RS1000714829 (2:189453921 G>A), RS1000991207 (2:189440830 C>G), RS1001024489 (2:189471151 C>G), RS1001193860 (2:189457445 T>C), RS1001269404 (2:189470969 T>C), RS1001308476 (2:189457679 G>A), RS1001339920 (2:189441093 C>A,G,T), RS1001422374 (2:189464193 T>C), RS1001472604 (2:189458079 A>T), RS1001524740 (2:189457904 C>T)
Disease associations
OMIM: gene MIM:620341 | 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 |
|---|---|---|
| GCST002677_1 | Iron status biomarkers (ferritin levels) | 8.000000e-19 |
| GCST002678_1 | Iron status biomarkers (transferrin levels) | 1.000000e-11 |
| GCST004571_22 | Iron status biomarkers (total iron binding capacity) | 8.000000e-07 |
| GCST004572_3 | Iron status biomarkers (transferrin saturation) | 8.000000e-07 |
| GCST010698_39 | Subcortical volume (min-P) | 9.000000e-26 |
| GCST010699_36 | Brain morphology (min-P) | 9.000000e-09 |
| GCST010700_26 | Cortical thickness (MOSTest) | 9.000000e-52 |
| GCST010701_48 | Cortical surface area (MOSTest) | 2.000000e-18 |
| GCST010702_50 | Subcortical volume (MOSTest) | 8.000000e-10 |
| GCST010703_340 | Brain morphology (MOSTest) | 3.000000e-10 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004459 | ferritin measurement |
| EFO:0004461 | iron biomarker measurement |
| EFO:0006341 | transferrin measurement |
| EFO:0006334 | total iron binding capacity |
| EFO:0004346 | neuroimaging measurement |
| EFO:0004840 | cortical thickness |
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 |
|---|---|---|
| sodium arsenite | increases expression, decreases expression, increases abundance | 3 |
| Valproic Acid | decreases expression | 2 |
| Cadmium Chloride | decreases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| alpha phellandrene | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases expression, increases abundance | 1 |
| propionaldehyde | increases methylation | 1 |
| deoxynivalenol | increases expression | 1 |
| nonanal | increases methylation | 1 |
| n-hexanal | increases methylation | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | decreases reaction, affects binding | 1 |
| butyraldehyde | increases methylation | 1 |
| caprylic aldehyde | increases methylation | 1 |
| nivalenol | increases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases expression, increases abundance | 1 |
| pentanal | increases methylation | 1 |
| heptanal | increases methylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| jinfukang | decreases expression | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Acrolein | affects cotreatment, increases expression, increases abundance | 1 |
| Air Pollutants | affects cotreatment, increases abundance, increases expression | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | 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.