WDR74
gene geneOn this page
Also known as FLJ10439Nsa1
Summary
WDR74 (WD repeat domain 74, HGNC:25529) is a protein-coding gene on chromosome 11q12.3, encoding WD repeat-containing protein 74 (Q6RFH5). Regulatory protein of the MTREX-exosome complex involved in the synthesis of the 60S ribosomal subunit. It is a common-essential gene (DepMap: required in 99.8% of cancer cell lines).
Involved in rRNA processing and ribosomal large subunit biogenesis. Located in nuclear exosome (RNase complex); nucleolus; and nucleoplasm.
Source: NCBI Gene 54663 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 39 total — 1 pathogenic
- Cancer dependency (DepMap): dependent in 99.8% of screened cell lines (common-essential)
- MANE Select transcript:
NM_001369450
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25529 |
| Approved symbol | WDR74 |
| Name | WD repeat domain 74 |
| Location | 11q12.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10439, Nsa1 |
| Ensembl gene | ENSG00000133316 |
| Ensembl biotype | protein_coding |
| OMIM | 617947 |
| Entrez | 54663 |
Gene structure
Transcript identifiers
Ensembl transcripts: 20 — 10 protein_coding, 9 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000278856, ENST00000311713, ENST00000453708, ENST00000525239, ENST00000525752, ENST00000529106, ENST00000536401, ENST00000538098, ENST00000538150, ENST00000538277, ENST00000540620, ENST00000541930, ENST00000542347, ENST00000543688, ENST00000544831, ENST00000544953, ENST00000545112, ENST00000892916, ENST00000934981, ENST00000957922
RefSeq mRNA: 8 — MANE Select: NM_001369450
NM_001307977, NM_001369447, NM_001369448, NM_001369449, NM_001369450, NM_001369451, NM_001369453, NM_018093
CCDS: CCDS44630, CCDS76421
Canonical transcript exons
ENST00000278856 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001360892 | 62839507 | 62839590 |
| ENSE00002157294 | 62832911 | 62833131 |
| ENSE00003480669 | 62834276 | 62834331 |
| ENSE00003510848 | 62835431 | 62835532 |
| ENSE00003545098 | 62835695 | 62835841 |
| ENSE00003551658 | 62833792 | 62833937 |
| ENSE00003559893 | 62834427 | 62834527 |
| ENSE00003639709 | 62835961 | 62836036 |
| ENSE00003670614 | 62833618 | 62833674 |
| ENSE00003757010 | 62839114 | 62839235 |
| ENSE00003790247 | 62839322 | 62839428 |
Expression profiles
Bgee: expression breadth ubiquitous, 272 present calls, max score 97.38.
FANTOM5 (CAGE): breadth broad, TPM avg 0.4913 / max 81.2498, expressed in 236 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 120245 | 39.9034 | 1816 |
| 120248 | 0.4913 | 236 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 97.38 | gold quality |
| granulocyte | CL:0000094 | 94.81 | gold quality |
| body of pancreas | UBERON:0001150 | 94.51 | gold quality |
| skin of abdomen | UBERON:0001416 | 94.47 | gold quality |
| right ovary | UBERON:0002118 | 94.16 | gold quality |
| skin of leg | UBERON:0001511 | 93.97 | gold quality |
| left uterine tube | UBERON:0001303 | 93.94 | gold quality |
| gastrocnemius | UBERON:0001388 | 93.87 | gold quality |
| apex of heart | UBERON:0002098 | 93.86 | gold quality |
| left ovary | UBERON:0002119 | 93.77 | gold quality |
| muscle of leg | UBERON:0001383 | 93.58 | gold quality |
| right uterine tube | UBERON:0001302 | 93.45 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 93.22 | gold quality |
| body of stomach | UBERON:0001161 | 92.72 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 92.63 | gold quality |
| right lobe of liver | UBERON:0001114 | 92.60 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 92.24 | gold quality |
| cortical plate | UBERON:0005343 | 92.21 | gold quality |
| tibial nerve | UBERON:0001323 | 92.17 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 92.16 | gold quality |
| esophagus mucosa | UBERON:0002469 | 92.13 | gold quality |
| zone of skin | UBERON:0000014 | 92.10 | gold quality |
| body of uterus | UBERON:0009853 | 92.03 | gold quality |
| metanephros cortex | UBERON:0010533 | 91.82 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 91.82 | gold quality |
| spleen | UBERON:0002106 | 91.79 | gold quality |
| cerebellar cortex | UBERON:0002129 | 91.79 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 91.76 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 91.76 | gold quality |
| ovary | UBERON:0000992 | 91.64 | gold quality |
Single-cell (SCXA)
Detected in 12 experiment(s), a significant marker in 9.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7037 | yes | 3739.92 |
| E-MTAB-7052 | yes | 2886.50 |
| E-GEOD-76312 | yes | 1976.07 |
| E-GEOD-70580 | yes | 1269.33 |
| E-MTAB-6678 | yes | 767.41 |
| E-CURD-46 | yes | 15.05 |
| E-ANND-3 | yes | 9.28 |
| E-GEOD-93593 | yes | 7.53 |
| E-MTAB-9801 | yes | 6.11 |
| E-MTAB-7606 | no | 1038.19 |
| E-ENAD-17 | no | 368.46 |
| E-CURD-88 | no | 3.75 |
Regulation
Is transcription factor: no
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.8% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 7)
- results suggest that WDR74 is a novel regulatory protein of the MTR4-exsosome complex whose interaction is regulated by NVL2 and is involved in ribosome biogenesis (PMID:26456651)
- knockdown of WDR74 leads to significant defects in the pre-rRNA cleavage within the internal transcribed spacer 1, occurring in an early stage of the processing pathway. When the dissociation of WDR74 from the MTR4-containing exonuclease complex was impaired upon expression of mutant NVL2, the same processing defect, with partial migration of WDR74 from the nucleolus towards the nucleoplasm, was observed. (PMID:29107693)
- Through direct interactions with Smad proteins, WDR74 enhances TGF-beta-mediated phosphorylation and nuclear accumulation of Smad2 and Smad3. (PMID:30594465)
- WDR74 induces nuclear beta-catenin accumulation and activates Wnt-responsive genes to promote lung cancer growth and metastasis. (PMID:31838084)
- WDR74 modulates melanoma tumorigenesis and metastasis through the RPL5-MDM2-p53 pathway. (PMID:32005977)
- WDR74 rs11231247 contributes to the susceptibility and prognosis of non-small cell lung cancer. (PMID:36701849)
- WDR74 serves as a novel therapeutic target by its oncogenic role in hepatocellular carcinoma. (PMID:37331183)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | wdr74 | ENSDARG00000061993 |
| mus_musculus | Wdr74 | ENSMUSG00000042729 |
| rattus_norvegicus | Tex54 | ENSRNOG00000063481 |
| drosophila_melanogaster | l(2)k09848 | FBGN0284246 |
| caenorhabditis_elegans | WBGENE00011538 |
Protein
Protein identifiers
WD repeat-containing protein 74 — Q6RFH5 (reviewed: Q6RFH5)
Alternative names: NOP seven-associated protein 1
All UniProt accessions (4): E9PS41, Q6RFH5, F5GYL6, H0YFP2
UniProt curated annotations — full annotation on UniProt →
Function. Regulatory protein of the MTREX-exosome complex involved in the synthesis of the 60S ribosomal subunit. Participates in an early cleavage of the pre-rRNA processing pathway in cooperation with NVL. Required for blastocyst formation, is necessary for RNA transcription, processing and/or stability during preimplantation development.
Subunit / interactions. Isoform 1 interacts (through WDR repeats) with NVL; the interaction is independent of RNA or pre-60S ribosome particles. Isoform 2 does not interact with NVL. Interacts with MTREX; the interaction dissociation in a late stage of rRNA synthesis is required for appropriate maturation of pre-60S particles and depends on the ATPase activity of NVL.
Subcellular location. Nucleus. Nucleolus.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6RFH5-1 | 1 | yes |
| Q6RFH5-2 | 2 |
RefSeq proteins (8): NP_001294906, NP_001356376, NP_001356377, NP_001356378, NP_001356379, NP_001356380, NP_001356382, NP_060563 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001680 | WD40_rpt | Repeat |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
| IPR037379 | WDR74/Nsa1 | Family |
Pfam: PF00400
UniProt features (21 total): repeat 6, modified residue 3, mutagenesis site 3, sequence conflict 3, region of interest 3, chain 1, compositionally biased region 1, splice variant 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8FKV | ELECTRON MICROSCOPY | 2.47 |
| 8FKT | ELECTRON MICROSCOPY | 2.81 |
| 8FKP | ELECTRON MICROSCOPY | 2.85 |
| 8FKR | ELECTRON MICROSCOPY | 2.89 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6RFH5-F1 | 83.28 | 0.66 |
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 (3): 214, 311, 361
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 171–176 | reduces interaction with nvl. |
| 185 | reduces interaction with nvl. |
| 191 | reduces interaction with nvl. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 189 (showing top):
GOBP_RIBOSOME_BIOGENESIS, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, AMIT_SERUM_RESPONSE_20_MCF10A, GOBP_BLASTOCYST_FORMATION, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, GOBP_BLASTOCYST_DEVELOPMENT, TANAKA_METHYLATED_IN_ESOPHAGEAL_CARCINOMA, NRF2_01, GOBP_EMBRYO_DEVELOPMENT, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, GOBP_RIBOSOMAL_LARGE_SUBUNIT_BIOGENESIS, CETS1P54_01, GRADE_COLON_AND_RECTAL_CANCER_UP, GOCC_NUCLEAR_EXOSOME_RNASE_COMPLEX, GOCC_PRERIBOSOME
GO Biological Process (4): blastocyst formation (GO:0001825), rRNA processing (GO:0006364), RNA metabolic process (GO:0016070), ribosomal large subunit biogenesis (GO:0042273)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), preribosome, large subunit precursor (GO:0030687), nuclear exosome (RNase complex) (GO:0000176)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| nuclear lumen | 3 |
| ribosome biogenesis | 2 |
| blastocyst development | 1 |
| anatomical structure formation involved in morphogenesis | 1 |
| RNA processing | 1 |
| rRNA metabolic process | 1 |
| nucleic acid metabolic process | 1 |
| ribonucleoprotein complex biogenesis | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| preribosome | 1 |
| exosome (RNase complex) | 1 |
| nucleus | 1 |
| nuclear protein-containing complex | 1 |
Protein interactions and networks
STRING
1782 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| WDR74 | EBNA1BP2 | Q99848 | 806 |
| WDR74 | WDR12 | Q9GZL7 | 796 |
| WDR74 | NSA2 | O95478 | 774 |
| WDR74 | NOP2 | P46087 | 768 |
| WDR74 | GNL2 | Q13823 | 766 |
| WDR74 | NVL | O15381 | 765 |
| WDR74 | MDN1 | Q9NU22 | 763 |
| WDR74 | PLEKHS1 | Q5SXH7 | 755 |
| WDR74 | RSL24D1 | Q9UHA3 | 744 |
| WDR74 | SURF6 | O75683 | 727 |
| WDR74 | RPF2 | Q9H7B2 | 716 |
| WDR74 | PDCD11 | Q14690 | 708 |
| WDR74 | MTREX | P42285 | 703 |
| WDR74 | NMD3 | Q96D46 | 702 |
| WDR74 | FTSJ3 | Q8IY81 | 699 |
IntAct
86 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CCT2 | TXNDC9 | psi-mi:“MI:0914”(association) | 0.730 |
| PDCL3 | PEX7 | psi-mi:“MI:0914”(association) | 0.640 |
| CCT3 | TXNDC9 | psi-mi:“MI:0914”(association) | 0.640 |
| CCT5 | TXNDC9 | psi-mi:“MI:0914”(association) | 0.640 |
| NPM1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.610 |
| RCHY1 | WDR74 | psi-mi:“MI:0915”(physical association) | 0.560 |
| WDR74 | RCHY1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RPL28 | MAGEB2 | psi-mi:“MI:0914”(association) | 0.560 |
| WDR74 | RGS2 | psi-mi:“MI:0915”(physical association) | 0.550 |
| MAGEB2 | POLRMT | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| CCT7 | PEX7 | psi-mi:“MI:0914”(association) | 0.530 |
| WDR74 | DLG4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| WDR74 | NUDT3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Brwd3 | WDR91 | psi-mi:“MI:0914”(association) | 0.350 |
| Srp72 | psi-mi:“MI:0914”(association) | 0.350 | |
| Gspt1 | MRPL27 | psi-mi:“MI:0914”(association) | 0.350 |
| THOC5 | MYO1G | psi-mi:“MI:0914”(association) | 0.350 |
| Rrbp1 | PIPSL | psi-mi:“MI:0914”(association) | 0.350 |
| NOP56 | C12orf43 | psi-mi:“MI:0914”(association) | 0.350 |
| PKN2 | TMUB1 | psi-mi:“MI:0914”(association) | 0.350 |
| NCBP3 | ALYREF | psi-mi:“MI:0914”(association) | 0.350 |
| IBTK | POP7 | psi-mi:“MI:0914”(association) | 0.350 |
| Junb | RGPD3 | psi-mi:“MI:0914”(association) | 0.350 |
| PDGFRA | RNPS1 | psi-mi:“MI:0914”(association) | 0.350 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| RRP1B | ZNF785 | psi-mi:“MI:0914”(association) | 0.350 |
| MKI67 | ARHGAP10 | psi-mi:“MI:0914”(association) | 0.350 |
| Prdm16 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (132): WDR74 (Two-hybrid), WDR74 (Affinity Capture-MS), WDR74 (Affinity Capture-MS), DDX47 (Co-fractionation), DHX37 (Co-fractionation), GNL2 (Co-fractionation), RRS1 (Co-fractionation), WDR74 (Co-fractionation), ZC3H15 (Co-fractionation), WDR74 (Affinity Capture-MS), WDR74 (Affinity Capture-MS), WDR74 (Affinity Capture-MS), WDR74 (Affinity Capture-MS), WDR74 (Affinity Capture-MS), WDR74 (Affinity Capture-MS)
ESM2 similar proteins: A1A4I4, A2RRH5, O35465, O35828, O43379, O43818, O60336, P57737, P70268, Q0V8F1, Q12788, Q14318, Q15334, Q16512, Q2KJJ5, Q3B7U9, Q3SZD4, Q3U3T8, Q499N3, Q4VBE8, Q58D06, Q5E9I8, Q5M9G8, Q5R7H5, Q5RF24, Q5U2W5, Q5VW00, Q5ZIW1, Q63433, Q6DKP5, Q6NS57, Q6RFH5, Q8BGW4, Q8BNV1, Q8C4J7, Q8HXL3, Q8IZ69, Q8K4K5, Q8MKF0, Q8TEB1
Diamond homologs: A3LVX0, A5DKC4, A5DX41, A7TJL1, Q58D06, Q5A2T0, Q6BUJ2, Q6CEC9, Q6FU05, Q6RFH5, A6ZU71, O94698, P53136, Q754U4, Q8VCG3, Q54FW9
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 114 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 | 12 | 21.4× | 2e-11 |
| Viral mRNA Translation | 12 | 21.4× | 2e-11 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 12 | 21.2× | 2e-11 |
| Association of TriC/CCT with target proteins during biosynthesis | 5 | 20.6× | 7e-05 |
| Selenocysteine synthesis | 12 | 20.3× | 2e-11 |
| Eukaryotic Translation Termination | 12 | 20.3× | 2e-11 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 12 | 19.9× | 2e-11 |
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 12 | 19.9× | 2e-11 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 12 | 22.7× | 9e-11 |
| translation | 13 | 13.6× | 3e-09 |
| regulation of alternative mRNA splicing, via spliceosome | 5 | 12.5× | 3e-03 |
| rRNA processing | 7 | 10.1× | 5e-04 |
| RNA splicing | 9 | 8.1× | 2e-04 |
| mRNA processing | 7 | 5.6× | 8e-03 |
| protein stabilization | 8 | 5.5× | 5e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
39 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 25 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3898494 | NR_199791.1(RNU2-2):n.4G>A | Pathogenic |
SpliceAI
1381 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:62833128:CATC:C | acceptor_gain | 1.0000 |
| 11:62833787:CTTA:C | donor_loss | 1.0000 |
| 11:62833788:TTACC:T | donor_loss | 1.0000 |
| 11:62833789:TA:T | donor_loss | 1.0000 |
| 11:62833790:A:AT | donor_loss | 1.0000 |
| 11:62833934:CGCC:C | acceptor_gain | 1.0000 |
| 11:62833936:CC:C | acceptor_gain | 1.0000 |
| 11:62833937:CC:C | acceptor_gain | 1.0000 |
| 11:62833938:C:CC | acceptor_gain | 1.0000 |
| 11:62834271:CTCA:C | donor_loss | 1.0000 |
| 11:62834272:TCACC:T | donor_loss | 1.0000 |
| 11:62834273:CA:C | donor_loss | 1.0000 |
| 11:62834275:C:CG | donor_loss | 1.0000 |
| 11:62834327:CTGAG:C | acceptor_gain | 1.0000 |
| 11:62834328:TGAG:T | acceptor_gain | 1.0000 |
| 11:62834330:AGC:A | acceptor_loss | 1.0000 |
| 11:62834332:C:CC | acceptor_gain | 1.0000 |
| 11:62834345:C:CT | acceptor_gain | 1.0000 |
| 11:62834346:A:T | acceptor_gain | 1.0000 |
| 11:62834425:A:AC | donor_gain | 1.0000 |
| 11:62834426:C:CT | donor_gain | 1.0000 |
| 11:62834426:CTTG:C | donor_gain | 1.0000 |
| 11:62835201:T:A | donor_gain | 1.0000 |
| 11:62835428:TAC:T | donor_loss | 1.0000 |
| 11:62835429:A:AC | donor_gain | 1.0000 |
| 11:62835430:C:CC | donor_gain | 1.0000 |
| 11:62835652:C:CA | donor_gain | 1.0000 |
| 11:62835693:A:AC | donor_gain | 1.0000 |
| 11:62835694:C:CC | donor_gain | 1.0000 |
| 11:62835694:CGTT:C | donor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000234135 (11:62841665 T>A,C,G), RS1000637928 (11:62837191 T>C), RS1000801544 (11:62838752 T>C), RS1000871249 (11:62833991 C>A,G), RS1001574882 (11:62840112 C>T), RS1001810752 (11:62833317 A>G), RS1002078891 (11:62841691 C>A,G,T), RS1002135294 (11:62843655 G>C), RS1002505091 (11:62836162 A>C), RS1002528384 (11:62841071 C>A), RS1002580903 (11:62841244 G>C,T), RS1002588974 (11:62840572 C>T), RS1003486125 (11:62841850 C>G), RS1003543339 (11:62834886 C>T), RS1003694576 (11:62836397 T>C)
Disease associations
OMIM: gene MIM:617947 | disease phenotypes: MIM:621304
GenCC curated gene-disease
Mondo (2): neurodevelopmental disorder (MONDO:0700092), developmental and epileptic encephalopathy 119 (MONDO:1060177)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005956_2 | Waist-to-hip ratio adjusted for BMI | 1.000000e-08 |
| GCST005962_51 | Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) | 1.000000e-07 |
| GCST90020025_950 | Waist-to-hip ratio adjusted for BMI | 4.000000e-08 |
| GCST90020027_1482 | Waist-hip index | 5.000000e-08 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0008007 | age at assessment |
| EFO:0008343 | sex interaction measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D065886 | Neurodevelopmental Disorders | F03.625 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
44 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, affects cotreatment, decreases expression | 2 |
| deoxynivalenol | increases expression | 2 |
| trichostatin A | decreases expression | 2 |
| Acetaminophen | decreases expression | 2 |
| Tretinoin | decreases expression | 2 |
| Valproic Acid | decreases expression, affects expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| biochanin A | decreases expression | 1 |
| alpha phellandrene | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| cupric chloride | affects expression | 1 |
| nivalenol | increases expression | 1 |
| cylindrospermopsin | increases expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| abrine | increases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | affects cotreatment, decreases expression | 1 |
| bisphenol S | affects cotreatment, decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| 3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol | decreases expression | 1 |
| Bortezomib | increases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Vehicle Emissions | increases abundance, increases expression | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Estradiol | increases expression | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
Clinical trials (associated diseases)
202 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04586348 | PHASE4 | UNKNOWN | Prenatal Iodine Supplementation and Early Childhood Neurodevelopment |
| NCT04873115 | PHASE4 | UNKNOWN | Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties, |
| NCT02559102 | PHASE3 | COMPLETED | Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants |
| NCT02757079 | PHASE3 | COMPLETED | Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders |
| NCT06915480 | PHASE3 | RECRUITING | Reducing Missed Appointments |
| NCT07377032 | PHASE3 | RECRUITING | TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders |
| NCT02909959 | PHASE2 | COMPLETED | Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder |
| NCT06081348 | PHASE2 | RECRUITING | Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders |
| NCT06352372 | PHASE2 | COMPLETED | Safety and Efficacy of tPBM for Epileptiform Activity in Autism |
| NCT00503191 | PHASE1 | COMPLETED | NeuroModulation Technique Treatment of Autism |
| NCT04475848 | PHASE1 | COMPLETED | A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants |
| NCT06300398 | PHASE1 | COMPLETED | IAMA-6 Oral Dose Study in Healthy Adults |
| NCT01783041 | PHASE2/PHASE3 | COMPLETED | Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants |
| NCT05767385 | PHASE2/PHASE3 | RECRUITING | Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior |
| NCT05675098 | EARLY_PHASE1 | NOT_YET_RECRUITING | Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy |
| NCT00783783 | Not specified | COMPLETED | CYP2D6 Pharmacogenetics in Risperidone-Treated Children |
| NCT01778504 | Not specified | RECRUITING | Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders |
| NCT01850784 | Not specified | UNKNOWN | High Energy Formula Feeding in Infants With Congenital Heart Disease |
| NCT01922791 | Not specified | COMPLETED | Nutrition and Pregnancy Intervention Study |
| NCT01942525 | Not specified | UNKNOWN | Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants |
| NCT02003170 | Not specified | COMPLETED | Etiology and Early Diagnosis of Neurodevelopmental Disorders |
| NCT02118649 | Not specified | ACTIVE_NOT_RECRUITING | Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game |
| NCT02557191 | Not specified | TERMINATED | Biomarkers, Neurodevelopment and Preterm Infants |
| NCT02690675 | Not specified | COMPLETED | Iron Supplement Effect on Child Development |
| NCT02694003 | Not specified | COMPLETED | Better Nights, Better Days for Children With Neurodevelopment Disorders |
| NCT02792894 | Not specified | COMPLETED | Family Networks (FaNs) for Children With Developmental Disorders and Delays |
| NCT02871674 | Not specified | UNKNOWN | Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial |
| NCT02887157 | Not specified | COMPLETED | Analyzing Retinal Microanatomy in ROP |
| NCT02898298 | Not specified | COMPLETED | Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder |
| NCT02912780 | Not specified | UNKNOWN | Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit |
| NCT03023293 | Not specified | COMPLETED | n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum |
| NCT03023644 | Not specified | COMPLETED | Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study |
| NCT03032991 | Not specified | UNKNOWN | Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers |
| NCT03088189 | Not specified | TERMINATED | Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring |
| NCT03096028 | Not specified | COMPLETED | Developmental Origins of Mental Health Disorders |
| NCT03148782 | Not specified | COMPLETED | Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase |
| NCT03172104 | Not specified | COMPLETED | Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age |
| NCT03222375 | Not specified | RECRUITING | SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism |
| NCT03229928 | Not specified | COMPLETED | Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge |
| NCT03232489 | Not specified | UNKNOWN | Study for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): developmental and epileptic encephalopathy 119