WDR6
geneOn this page
Also known as Trm734
Summary
WDR6 (WD repeat domain 6, HGNC:12758) is a protein-coding gene on chromosome 3p21.31, encoding tRNA (34-2’-O)-methyltransferase regulator WDR6 (Q9NNW5). Together with methyltransferase FTSJ1, methylates the 2’-O-ribose of nucleotides at position 34 of the tRNA anticodon loop of substrate tRNAs.
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. The encoded protein interacts with serine/threonine kinase 11, and is implicated in cell growth arrest. Alternative splicing results in multiple transcript variants encoding different isoforms.
Source: NCBI Gene 11180 — RefSeq curated summary.
At a glance
- GWAS associations: 16
- Clinical variants (ClinVar): 192 total
- Druggable target: yes
- MANE Select transcript:
NM_018031
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12758 |
| Approved symbol | WDR6 |
| Name | WD repeat domain 6 |
| Location | 3p21.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Trm734 |
| Ensembl gene | ENSG00000178252 |
| Ensembl biotype | protein_coding |
| OMIM | 606031 |
| Entrez | 11180 |
Gene structure
Transcript identifiers
Ensembl transcripts: 29 — 18 protein_coding, 6 protein_coding_CDS_not_defined, 3 retained_intron, 2 nonsense_mediated_decay
ENST00000395474, ENST00000415265, ENST00000419837, ENST00000420783, ENST00000429900, ENST00000438660, ENST00000448293, ENST00000452875, ENST00000461687, ENST00000462064, ENST00000471162, ENST00000472878, ENST00000473238, ENST00000488572, ENST00000489427, ENST00000489684, ENST00000491365, ENST00000492780, ENST00000498023, ENST00000608424, ENST00000610967, ENST00000627177, ENST00000873507, ENST00000873508, ENST00000873509, ENST00000873510, ENST00000916085, ENST00000916086, ENST00000969620
RefSeq mRNA: 3 — MANE Select: NM_018031
NM_001320546, NM_001320547, NM_018031
CCDS: CCDS2782, CCDS82772
Canonical transcript exons
ENST00000608424 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003479586 | 49014600 | 49014718 |
| ENSE00003552784 | 49014383 | 49014499 |
| ENSE00003617303 | 49011635 | 49014116 |
| ENSE00003659376 | 49014210 | 49014293 |
| ENSE00003845350 | 49014825 | 49015951 |
| ENSE00003849526 | 49007391 | 49007531 |
Expression profiles
Bgee: expression breadth ubiquitous, 281 present calls, max score 99.33.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 52.5738 / max 348.0970, expressed in 1819 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 36599 | 39.3558 | 1816 |
| 36600 | 12.0009 | 1781 |
| 36598 | 1.2171 | 861 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right uterine tube | UBERON:0001302 | 99.33 | gold quality |
| pituitary gland | UBERON:0000007 | 99.19 | gold quality |
| adenohypophysis | UBERON:0002196 | 99.19 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 99.18 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 99.11 | gold quality |
| left ovary | UBERON:0002119 | 99.05 | gold quality |
| right ovary | UBERON:0002118 | 98.97 | gold quality |
| thyroid gland | UBERON:0002046 | 98.90 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 98.88 | gold quality |
| endocervix | UBERON:0000458 | 98.76 | gold quality |
| body of uterus | UBERON:0009853 | 98.67 | gold quality |
| right adrenal gland | UBERON:0001233 | 98.62 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 98.62 | gold quality |
| body of pancreas | UBERON:0001150 | 98.56 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 98.53 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 98.46 | gold quality |
| metanephros cortex | UBERON:0010533 | 98.41 | gold quality |
| left adrenal gland | UBERON:0001234 | 98.38 | gold quality |
| left uterine tube | UBERON:0001303 | 98.37 | gold quality |
| adrenal cortex | UBERON:0001235 | 98.36 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 98.22 | gold quality |
| ovary | UBERON:0000992 | 98.20 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 98.19 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 98.18 | gold quality |
| lower esophagus | UBERON:0013473 | 98.17 | gold quality |
| ventricular zone | UBERON:0003053 | 98.11 | gold quality |
| ganglionic eminence | UBERON:0004023 | 98.09 | gold quality |
| stromal cell of endometrium | CL:0002255 | 98.05 | gold quality |
| gall bladder | UBERON:0002110 | 98.00 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 98.00 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.84 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NR1I2
miRNA regulators (miRDB)
51 targeting WDR6, 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-3120-5P | 100.00 | 65.56 | 965 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-6888-3P | 99.97 | 65.95 | 1170 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-1343-3P | 99.89 | 66.78 | 1815 |
| HSA-MIR-202-3P | 99.84 | 71.41 | 1290 |
| HSA-MIR-6842-5P | 99.80 | 67.54 | 1587 |
| HSA-MIR-7110-5P | 99.80 | 67.84 | 1712 |
| HSA-MIR-10393-3P | 99.72 | 66.56 | 961 |
| HSA-MIR-6801-5P | 99.72 | 66.50 | 981 |
| HSA-MIR-26A-1-3P | 99.64 | 66.81 | 788 |
| HSA-MIR-26A-2-3P | 99.64 | 66.82 | 786 |
| HSA-MIR-875-3P | 99.63 | 69.47 | 2548 |
| HSA-MIR-4663 | 99.62 | 65.33 | 957 |
| HSA-MIR-6752-5P | 99.59 | 67.32 | 1243 |
| HSA-MIR-4310 | 99.59 | 68.84 | 2527 |
| HSA-MIR-6716-5P | 99.56 | 68.62 | 1244 |
| HSA-MIR-4777-5P | 99.33 | 67.53 | 1148 |
| HSA-MIR-3678-3P | 99.31 | 67.10 | 1432 |
| HSA-MIR-4667-3P | 99.26 | 65.45 | 1608 |
| HSA-MIR-3922-3P | 99.25 | 64.96 | 1136 |
| HSA-MIR-593-3P | 99.22 | 67.28 | 1327 |
| HSA-MIR-449B-3P | 99.20 | 67.24 | 1047 |
| HSA-MIR-6852-5P | 99.17 | 66.69 | 2073 |
Literature-anchored findings (GeneRIF, showing 3)
- Results suggest that WDR6 is implicated in the cell growth inhibitory pathway of LKB1 via regulation of p27(Kip1). (PMID:17216128)
- Transgenic rat gene WDR6 is expressed in the hypothalamus and interacts with insulin receptor substrate 4 (IRS-4) in the brain. (PMID:17720279)
- Replication of the K1L(-)C7L(-) mutant vaccinia virus virus was enabled by multiple siRNAs to SAMD9 or WDR6. (PMID:26242627)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | wdr6 | ENSDARG00000078571 |
| mus_musculus | Wdr6 | ENSMUSG00000066357 |
| rattus_norvegicus | Wdr6 | ENSRNOG00000020185 |
| drosophila_melanogaster | CG33172 | FBGN0053172 |
Protein
Protein identifiers
tRNA (34-2’-O)-methyltransferase regulator WDR6 — Q9NNW5 (reviewed: Q9NNW5)
Alternative names: WD repeat-containing protein 6
All UniProt accessions (11): Q9NNW5, A0A087X295, C9JFP6, C9K020, E5RFX3, E9PBK6, E9PDU5, F8WE36, V9GYU1, V9GZ48, V9GZ65
UniProt curated annotations — full annotation on UniProt →
Function. Together with methyltransferase FTSJ1, methylates the 2’-O-ribose of nucleotides at position 34 of the tRNA anticodon loop of substrate tRNAs. Required for the correct positioning of the substrate tRNA for methylation. Required to suppress amino acid starvation-induced autophagy. Enhances the STK11/LKB1-induced cell growth suppression activity.
Subunit / interactions. Interacts with FTSJ1; the interaction is direct, and required for 2’-O-methylation of position 34 in substrate tRNAs. Interacts with IRS4. Interacts with STK11/LKB1.
Subcellular location. Cytoplasm.
Tissue specificity. Ubiquitous.
Similarity. Belongs to the WD repeat WDR6 family.
RefSeq proteins (3): NP_001307475, NP_001307476, NP_060501* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001680 | WD40_rpt | Repeat |
| IPR011043 | Gal_Oxase/kelch_b-propeller | Homologous_superfamily |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
| IPR051973 | tRNA_Anticodon_Mtase-Reg | Family |
Pfam: PF00400
UniProt features (24 total): repeat 19, sequence conflict 3, chain 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NNW5-F1 | 85.72 | 0.59 |
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): 1
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-9013420 | RHOU GTPase cycle |
| R-HSA-9013424 | RHOV GTPase cycle |
| R-HSA-9696264 | RND3 GTPase cycle |
| R-HSA-9696270 | RND2 GTPase cycle |
| R-HSA-9696273 | RND1 GTPase cycle |
MSigDB gene sets: 175 (showing top):
GOBP_REGULATION_OF_AUTOPHAGY, GCM_GSPT1, AREB6_03, GOBP_TRNA_METABOLIC_PROCESS, GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_UP, GOBP_RNA_METHYLATION, GOBP_NEGATIVE_REGULATION_OF_AUTOPHAGY, GOBP_RNA_MODIFICATION, WANG_LMO4_TARGETS_DN, GOBP_REGULATION_OF_CATABOLIC_PROCESS, BLALOCK_ALZHEIMERS_DISEASE_UP, ACATTCC_MIR1_MIR206, GOBP_TRNA_METHYLATION, GCM_NUMA1, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN
GO Biological Process (6): wobble position ribose methylation (GO:0002130), negative regulation of cell population proliferation (GO:0008285), negative regulation of autophagy (GO:0010507), tRNA methylation (GO:0030488), G1 to G0 transition (GO:0070314), tRNA processing (GO:0008033)
GO Molecular Function (5): tRNA binding (GO:0000049), RNA binding (GO:0003723), enzyme regulator activity (GO:0030234), enzyme-substrate adaptor activity (GO:0140767), protein binding (GO:0005515)
GO Cellular Component (4): cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), COP9 signalosome (GO:0008180)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| RHO GTPase cycle | 5 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| tRNA nucleoside ribose methylation | 1 |
| cell population proliferation | 1 |
| regulation of cell population proliferation | 1 |
| negative regulation of cellular process | 1 |
| autophagy | 1 |
| negative regulation of catabolic process | 1 |
| regulation of autophagy | 1 |
| RNA methylation | 1 |
| tRNA modification | 1 |
| cell cycle process | 1 |
| RNA processing | 1 |
| tRNA metabolic process | 1 |
| RNA binding | 1 |
| nucleic acid binding | 1 |
| catalytic activity | 1 |
| molecular function regulator activity | 1 |
| protein-macromolecule adaptor activity | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
| nuclear protein-containing complex | 1 |
Protein interactions and networks
STRING
1918 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| WDR6 | DALRD3 | Q5D0E6 | 795 |
| WDR6 | SAMD9 | Q5K651 | 688 |
| WDR6 | FTSJ1 | Q9UET6 | 681 |
| WDR6 | STK11 | Q15831 | 678 |
| WDR6 | GPALPP1 | Q8IXQ4 | 542 |
| WDR6 | THADA | Q6YHU6 | 536 |
| WDR6 | TRMT44 | Q8IYL2 | 521 |
| WDR6 | WDR4 | P57081 | 507 |
| WDR6 | ARMC6 | Q6NXE6 | 507 |
| WDR6 | DPH7 | Q9BTV6 | 479 |
| WDR6 | PTGR3 | Q8N4Q0 | 470 |
| WDR6 | TBL2 | Q9Y4P3 | 457 |
| WDR6 | DDB1 | Q16531 | 445 |
| WDR6 | CUL4B | Q13620 | 436 |
| WDR6 | CUL4A | Q13619 | 430 |
IntAct
263 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PIK3R1 | PIK3CD | psi-mi:“MI:0914”(association) | 0.890 |
| CDC37 | IKBKB | psi-mi:“MI:0914”(association) | 0.850 |
| NS | PIK3R2 | psi-mi:“MI:0914”(association) | 0.750 |
| WDR6 | PTPN3 | psi-mi:“MI:0915”(physical association) | 0.720 |
| PTPN3 | WDR6 | psi-mi:“MI:0915”(physical association) | 0.720 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| PKN3 | ARHGAP10 | psi-mi:“MI:0914”(association) | 0.680 |
| PIK3R2 | IRS4 | psi-mi:“MI:0914”(association) | 0.640 |
| DNAJC7 | PLD2 | psi-mi:“MI:0914”(association) | 0.640 |
| INSR | PIK3R2 | psi-mi:“MI:2364”(proximity) | 0.570 |
| NS1 | PIK3R2 | psi-mi:“MI:0914”(association) | 0.560 |
| WDR6 | GRIP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| WDR6 | STK11 | psi-mi:“MI:0915”(physical association) | 0.540 |
| STK11 | WDR6 | psi-mi:“MI:0915”(physical association) | 0.540 |
| STK11 | WDR6 | psi-mi:“MI:0403”(colocalization) | 0.540 |
| KSR2 | POLR3A | psi-mi:“MI:0914”(association) | 0.530 |
| DMWD | GAK | psi-mi:“MI:0914”(association) | 0.530 |
| MINK1 | CNOT1 | psi-mi:“MI:0914”(association) | 0.530 |
| GRB2 | SH3PXD2B | psi-mi:“MI:0914”(association) | 0.530 |
| FTSJ1 | WDR6 | psi-mi:“MI:0914”(association) | 0.530 |
| STK35 | HSP90AA1 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (390): WDR6 (Two-hybrid), WDR6 (Affinity Capture-MS), WDR6 (Affinity Capture-Western), CDC42EP4 (Two-hybrid), G2E3 (Two-hybrid), WDR6 (Co-fractionation), WDR6 (Affinity Capture-MS), WDR6 (Proximity Label-MS), WDR6 (Proximity Label-MS), WDR6 (Affinity Capture-MS), WDR6 (Affinity Capture-MS), WDR6 (Affinity Capture-MS), WDR6 (Affinity Capture-MS), WDR6 (Affinity Capture-MS), WDR6 (Affinity Capture-MS)
ESM2 similar proteins: A0A1L8HX76, A0JP70, A4IG72, A7E3S5, A7Z052, D3ZW91, E9PY46, P57081, Q05B17, Q0P5H9, Q15061, Q32P44, Q3SZD4, Q3U821, Q499N3, Q4VBE8, Q5BK48, Q5F3K4, Q5RB07, Q5RBH8, Q5RD06, Q5XFW6, Q68EI0, Q6DFC6, Q6KAU8, Q6PFM9, Q6PGF3, Q6ZQL4, Q7ZVF0, Q7ZVR1, Q7ZY78, Q8BH57, Q8C5V5, Q8IWA0, Q8N0Z6, Q8NA23, Q8NAA4, Q8VC03, Q969R8, Q96KV7
Diamond homologs: A7Z052, Q5RB07, Q5U4D9, Q5XFW6, Q99ME2, Q9NNW5, Q25306
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 234 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 |
|---|---|---|---|
| Signaling by ERBB2 ECD mutants | 9 | 40.6× | 2e-10 |
| Constitutive Signaling by EGFRvIII | 8 | 38.3× | 3e-09 |
| Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants | 9 | 34.5× | 6e-10 |
| Insulin receptor signalling cascade | 6 | 27.1× | 4e-06 |
| Signaling by ERBB2 KD Mutants | 9 | 25.6× | 8e-09 |
| Signaling by ERBB2 TMD/JMD mutants | 8 | 25.6× | 7e-08 |
| GRB2 events in ERBB2 signaling | 6 | 25.6× | 5e-06 |
| GRB2 events in EGFR signaling | 5 | 25.6× | 3e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| Schwann cell development | 5 | 26.7× | 3e-04 |
| peptidyl-tyrosine phosphorylation | 7 | 15.0× | 1e-04 |
| insulin-like growth factor receptor signaling pathway | 5 | 12.6× | 5e-03 |
| ephrin receptor signaling pathway | 7 | 12.2× | 3e-04 |
| insulin receptor signaling pathway | 10 | 11.3× | 1e-05 |
| protein autophosphorylation | 14 | 10.3× | 6e-08 |
| protein phosphorylation | 22 | 7.6× | 2e-10 |
| phosphatidylinositol 3-kinase/protein kinase B signal transduction | 7 | 7.5× | 5e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
192 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 172 |
| Likely benign | 8 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1806 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:49014204:CTGCA:C | acceptor_loss | 1.0000 |
| 3:49014205:TGCAG:T | acceptor_loss | 1.0000 |
| 3:49014206:GCAGG:G | acceptor_loss | 1.0000 |
| 3:49014207:CAG:C | acceptor_loss | 1.0000 |
| 3:49014209:GGT:G | acceptor_gain | 1.0000 |
| 3:49014209:GGTAC:G | acceptor_gain | 1.0000 |
| 3:49014290:TAAG:T | donor_loss | 1.0000 |
| 3:49014294:G:A | donor_loss | 1.0000 |
| 3:49014295:T:A | donor_loss | 1.0000 |
| 3:49014497:GCG:G | donor_gain | 1.0000 |
| 3:49014498:CGGT:C | donor_loss | 1.0000 |
| 3:49014500:G:GG | donor_gain | 1.0000 |
| 3:49014500:G:T | donor_loss | 1.0000 |
| 3:49014501:T:A | donor_loss | 1.0000 |
| 3:49014590:T:A | acceptor_gain | 1.0000 |
| 3:49014591:G:A | acceptor_gain | 1.0000 |
| 3:49014598:A:AG | acceptor_gain | 1.0000 |
| 3:49014598:AG:A | acceptor_gain | 1.0000 |
| 3:49014598:AGGAG:A | acceptor_gain | 1.0000 |
| 3:49014599:G:GG | acceptor_gain | 1.0000 |
| 3:49014599:GG:G | acceptor_gain | 1.0000 |
| 3:49014599:GGA:G | acceptor_gain | 1.0000 |
| 3:49014599:GGAGG:G | acceptor_gain | 1.0000 |
| 3:49014714:CTACC:C | donor_gain | 1.0000 |
| 3:49014715:TACC:T | donor_gain | 1.0000 |
| 3:49014716:ACC:A | donor_gain | 1.0000 |
| 3:49014717:CC:C | donor_gain | 1.0000 |
| 3:49014717:CCG:C | donor_loss | 1.0000 |
| 3:49014719:G:GG | donor_gain | 1.0000 |
| 3:49014719:GT:G | donor_loss | 1.0000 |
AlphaMissense
7231 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:49012351:A:C | S273R | 0.999 |
| 3:49012353:T:A | S273R | 0.999 |
| 3:49012353:T:G | S273R | 0.999 |
| 3:49013428:T:C | F632L | 0.999 |
| 3:49013430:C:A | F632L | 0.999 |
| 3:49013430:C:G | F632L | 0.999 |
| 3:49015122:G:C | R1067P | 0.999 |
| 3:49012222:G:C | D230H | 0.998 |
| 3:49012226:G:C | R231P | 0.998 |
| 3:49012240:T:A | W236R | 0.998 |
| 3:49012240:T:C | W236R | 0.998 |
| 3:49012363:G:C | D277H | 0.998 |
| 3:49012381:T:A | W283R | 0.998 |
| 3:49012381:T:C | W283R | 0.998 |
| 3:49012861:T:A | W443R | 0.998 |
| 3:49012861:T:C | W443R | 0.998 |
| 3:49013429:T:C | F632S | 0.998 |
| 3:49013773:A:C | S747R | 0.998 |
| 3:49013775:T:A | S747R | 0.998 |
| 3:49013775:T:G | S747R | 0.998 |
| 3:49014616:A:C | S934R | 0.998 |
| 3:49014618:C:A | S934R | 0.998 |
| 3:49014618:C:G | S934R | 0.998 |
| 3:49014920:A:C | S1000R | 0.998 |
| 3:49014922:T:A | S1000R | 0.998 |
| 3:49014922:T:G | S1000R | 0.998 |
| 3:49015110:C:A | S1063Y | 0.998 |
| 3:49015110:C:T | S1063F | 0.998 |
| 3:49012208:C:A | A225D | 0.997 |
| 3:49012223:A:C | D230A | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000378201 (3:49009463 G>A,C), RS1000433245 (3:49009949 A>G), RS1000550060 (3:49015348 G>C), RS1000995727 (3:49007979 G>C), RS1001139342 (3:49009484 G>A,T), RS1001380832 (3:49009181 C>T), RS1001770694 (3:49015972 C>A), RS1002143488 (3:49007909 G>A), RS1002462876 (3:49015701 G>A,C), RS1002508316 (3:49012534 G>A,T), RS1003144378 (3:49006626 G>A), RS1003385408 (3:49006257 C>T), RS1003709813 (3:49012809 A>G), RS1004384542 (3:49008203 A>C,G), RS1004413895 (3:49008573 A>G)
Disease associations
OMIM: gene MIM:606031 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
16 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002541_47 | Menarche (age at onset) | 1.000000e-16 |
| GCST002541_48 | Menarche (age at onset) | 8.000000e-12 |
| GCST004131_23 | Inflammatory bowel disease | 1.000000e-33 |
| GCST004132_17 | Crohn’s disease | 3.000000e-23 |
| GCST004133_11 | Ulcerative colitis | 8.000000e-20 |
| GCST007294_107 | Body fat distribution (trunk fat ratio) | 9.000000e-06 |
| GCST007294_72 | Body fat distribution (trunk fat ratio) | 1.000000e-18 |
| GCST007294_98 | Body fat distribution (trunk fat ratio) | 3.000000e-15 |
| GCST007295_21 | Body fat distribution (leg fat ratio) | 8.000000e-06 |
| GCST007295_45 | Body fat distribution (leg fat ratio) | 1.000000e-10 |
| GCST007295_80 | Body fat distribution (leg fat ratio) | 1.000000e-14 |
| GCST010698_80 | Subcortical volume (min-P) | 3.000000e-24 |
| GCST010699_110 | Brain morphology (min-P) | 4.000000e-08 |
| GCST010701_52 | Cortical surface area (MOSTest) | 1.000000e-16 |
| GCST010702_36 | Subcortical volume (MOSTest) | 1.000000e-10 |
| GCST010703_262 | Brain morphology (MOSTest) | 2.000000e-13 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004703 | age at menarche |
| EFO:0004341 | body fat distribution |
| EFO:0004346 | neuroimaging measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5725054 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
38 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects binding, increases reaction, decreases expression, affects cotreatment, increases abundance | 3 |
| Valproic Acid | decreases expression, affects expression | 3 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression, increases methylation | 3 |
| Air Pollutants | increases expression, affects cotreatment, increases abundance, increases oxidation | 2 |
| Arsenic | affects methylation, affects cotreatment, decreases expression, increases abundance | 2 |
| TAK-243 | increases sumoylation | 1 |
| alpha-pinene | increases abundance, affects cotreatment, increases oxidation | 1 |
| cobaltous chloride | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| manganese chloride | decreases expression, increases abundance, affects cotreatment | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| chloropicrin | affects expression | 1 |
| (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) | decreases expression | 1 |
| jinfukang | increases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Diazinon | increases methylation | 1 |
| Endosulfan | decreases expression | 1 |
| Estradiol | increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Manganese | affects cotreatment, decreases expression, increases abundance | 1 |
| Ozone | increases oxidation, increases abundance, affects cotreatment | 1 |
| Ribonucleotides | affects binding | 1 |
ChEMBL screening assays
6 unique, capped per target: 6 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5697551 | Binding | Inhibition of WDR6 (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature |
Cellosaurus cell lines
5 cell lines: 5 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2LF | Abcam HeLa WDR6 KO | Cancer cell line | Female |
| CVCL_TX91 | HAP1 WDR6 (-) 1 | Cancer cell line | Male |
| CVCL_XV06 | HAP1 WDR6 (-) 2 | Cancer cell line | Male |
| CVCL_XV07 | HAP1 WDR6 (-) 3 | Cancer cell line | Male |
| CVCL_XV08 | HAP1 WDR6 (-) 4 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): ulcerative colitis