WDR24
gene geneOn this page
Also known as DKFZp434F054JFP7
Summary
WDR24 (WD repeat domain 24, HGNC:20852) is a protein-coding gene on chromosome 16p13.3, encoding GATOR2 complex protein WDR24 (Q96S15). Catalytic component of the GATOR2 complex, a multiprotein complex that acts as an activator of the amino acid-sensing branch of the mTORC1 signaling pathway. It is a selective cancer dependency (DepMap: 60.0% of cell lines).
Enables ubiquitin protein ligase activity. Involved in several processes, including cellular response to amino acid starvation; positive regulation of TORC1 signaling; and protein K6-linked ubiquitination. Located in cytosol and lysosomal membrane. Part of GATOR2 complex.
Source: NCBI Gene 84219 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 120 total
- Cancer dependency (DepMap): dependent in 60.0% of screened cell lines
- MANE Select transcript:
NM_032259
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20852 |
| Approved symbol | WDR24 |
| Name | WD repeat domain 24 |
| Location | 16p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZp434F054, JFP7 |
| Ensembl gene | ENSG00000127580 |
| Ensembl biotype | protein_coding |
| OMIM | 620307 |
| Entrez | 84219 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 6 protein_coding, 1 retained_intron
ENST00000248142, ENST00000293883, ENST00000567014, ENST00000647644, ENST00000886263, ENST00000886264, ENST00000933313
RefSeq mRNA: 1 — MANE Select: NM_032259
NM_032259
CCDS: CCDS10420
Canonical transcript exons
ENST00000293883 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000873928 | 684992 | 685176 |
| ENSE00000873929 | 685257 | 685597 |
| ENSE00000873931 | 685869 | 685990 |
| ENSE00000873932 | 686068 | 686186 |
| ENSE00000873933 | 686744 | 687416 |
| ENSE00000873934 | 687562 | 687739 |
| ENSE00001352797 | 689160 | 690398 |
| ENSE00001529438 | 684622 | 684902 |
| ENSE00003496887 | 685679 | 685783 |
Expression profiles
Bgee: expression breadth ubiquitous, 170 present calls, max score 85.20.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.8991 / max 73.0948, expressed in 1784 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 155750 | 9.6508 | 1777 |
| 155751 | 1.2482 | 815 |
Top tissues by expression
254 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right uterine tube | UBERON:0001302 | 85.20 | gold quality |
| apex of heart | UBERON:0002098 | 84.01 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 83.13 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 82.88 | gold quality |
| gastrocnemius | UBERON:0001388 | 82.11 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 81.83 | gold quality |
| stromal cell of endometrium | CL:0002255 | 81.70 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 81.61 | gold quality |
| cerebellar cortex | UBERON:0002129 | 81.60 | gold quality |
| right adrenal gland | UBERON:0001233 | 81.29 | gold quality |
| left testis | UBERON:0004533 | 81.26 | gold quality |
| right testis | UBERON:0004534 | 81.18 | gold quality |
| right frontal lobe | UBERON:0002810 | 81.12 | gold quality |
| granulocyte | CL:0000094 | 81.05 | gold quality |
| muscle of leg | UBERON:0001383 | 80.95 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 80.90 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 80.82 | gold quality |
| left adrenal gland | UBERON:0001234 | 80.57 | gold quality |
| right lobe of liver | UBERON:0001114 | 80.46 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 80.44 | gold quality |
| right ovary | UBERON:0002118 | 80.03 | gold quality |
| left ovary | UBERON:0002119 | 79.73 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 79.64 | gold quality |
| skin of leg | UBERON:0001511 | 79.63 | gold quality |
| adenohypophysis | UBERON:0002196 | 79.58 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 79.56 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 79.54 | gold quality |
| lower esophagus | UBERON:0013473 | 79.51 | gold quality |
| body of stomach | UBERON:0001161 | 79.43 | gold quality |
| cerebellum | UBERON:0002037 | 79.38 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.73 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
1 targeting WDR24, 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-138-1-3P | 98.25 | 67.89 | 867 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 60.0% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 3)
- Consistent with our findings in Drosophila, through the characterization of a wdr24-/- knockout HeLa cell line we determined that Wdr24 promotes lysosome acidification and autophagic flux in mammalian cells (PMID:27166823)
- The GATOR2-mTORC2 axis mediates Sestrin2-induced AKT Ser/Thr kinase activation. (PMID:31915252)
- CDK5-PRMT1-WDR24 signaling cascade promotes mTORC1 signaling and tumor growth. (PMID:36995937)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | wdr24 | ENSDARG00000025507 |
| mus_musculus | Wdr24 | ENSMUSG00000025737 |
| rattus_norvegicus | Wdr24 | ENSRNOG00000019713 |
| drosophila_melanogaster | Wdr24 | FBGN0027518 |
Paralogs (9): ERCC8 (ENSG00000049167), GEMIN5 (ENSG00000082516), RBBP7 (ENSG00000102054), WDR59 (ENSG00000103091), GRWD1 (ENSG00000105447), PEX7 (ENSG00000112357), WDR77 (ENSG00000116455), RBBP4 (ENSG00000162521), WDR73 (ENSG00000177082)
Protein
Protein identifiers
GATOR2 complex protein WDR24 — Q96S15 (reviewed: Q96S15)
Alternative names: WD repeat-containing protein 24
All UniProt accessions (3): Q96S15, A0A3B3ISA1, A0A499FJD3
UniProt curated annotations — full annotation on UniProt →
Function. Catalytic component of the GATOR2 complex, a multiprotein complex that acts as an activator of the amino acid-sensing branch of the mTORC1 signaling pathway. The GATOR2 complex indirectly activates mTORC1 through the inhibition of the GATOR1 subcomplex. GATOR2 probably acts as an E3 ubiquitin-protein ligase toward GATOR1. In the presence of abundant amino acids, the GATOR2 complex mediates ubiquitination of the NPRL2 core component of the GATOR1 complex, leading to GATOR1 inactivation. In the absence of amino acids, GATOR2 is inhibited, activating the GATOR1 complex. In addition to its role in regulation of the mTORC1 complex, promotes the acidification of lysosomes and facilitates autophagic flux. Within the GATOR2 complex, WDR24 constitutes the catalytic subunit that mediates ‘Lys-6’-linked ubiquitination of NPRL2.
Subunit / interactions. Component of the GATOR2 subcomplex, composed of MIOS, SEC13, SEH1L, WDR24 and WDR59. The GATOR2 complex interacts with CASTOR1 and CASTOR2; the interaction is negatively regulated by arginine. The GATOR2 complex interacts with SESN1, SESN2 and SESN3; the interaction is negatively regulated by amino acids. SESN1, SESN2 and SESN3 convey leucine availability via direct interaction with SEH1L and WDR24.
Subcellular location. Lysosome membrane.
Post-translational modifications. Phosphorylation at Ser-155 by AMPK in response to glucose deprivation inactivates WDR24 by promoting interaction with 14-3-3 proteins, such as YWHAG, preventing assembly of the GATOR2 complex. Autoubiquitinated; MIOS is required to prevent autoubiquitination.
Activity regulation. The GATOR2 complex is negatively regulated by the upstream amino acid sensors CASTOR1 and SESN2, which sequester the GATOR2 complex in absence of amino acids. In the presence of abundant amino acids, GATOR2 is released from CASTOR1 and SESN2 and activated.
Pathway. Protein modification; protein ubiquitination.
Similarity. Belongs to the WD repeat WDR24 family.
RefSeq proteins (1): NP_115635* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001680 | WD40_rpt | Repeat |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR019775 | WD40_repeat_CS | Conserved_site |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
| IPR037590 | WDR24 | Family |
Pfam: PF00400
UniProt features (35 total): binding site 15, repeat 6, modified residue 6, mutagenesis site 5, zinc finger region 2, chain 1
Structure
Experimental structures (PDB)
5 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9LWF | ELECTRON MICROSCOPY | 3.41 |
| 9OTI | ELECTRON MICROSCOPY | 3.5 |
| 9LVK | ELECTRON MICROSCOPY | 3.59 |
| 7UHY | ELECTRON MICROSCOPY | 3.66 |
| 9LVJ | ELECTRON MICROSCOPY | 3.82 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96S15-F1 | 74.26 | 0.47 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (15): 722; 733; 736; 743; 746; 757; 760; 762; 765; 768; 779; 783 …
Post-translational modifications (6): 155, 470, 496, 581, 594, 598
Mutagenesis-validated functional residues (5):
| Position | Phenotype |
|---|---|
| 155 | abolished phosphorylation by ampk. |
| 155 | mimics phosphorylation, leading to inhibit mtorc1 activation. |
| 451 | abolished interaction with wdr59 and assembly of the gator2 complex; when associated with e-632-633-e. |
| 632–633 | abolished interaction with wdr59 and assembly of the gator2 complex; when associated with e-451. |
| 743–746 | impaired amino-acid-mediated mtorc1 activation. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9639288 | Amino acids regulate mTORC1 |
MSigDB gene sets: 119 (showing top):
GOBP_REGULATION_OF_AUTOPHAGY, GOCC_VACUOLAR_MEMBRANE, GOBP_POSITIVE_REGULATION_OF_TOR_SIGNALING, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOBP_MACROAUTOPHAGY, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_TOR_SIGNALING, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_PROTEIN_POLYUBIQUITINATION, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_CELLULAR_RESPONSE_TO_STARVATION, GOBP_TOR_SIGNALING, GOBP_LOCALIZATION_WITHIN_MEMBRANE
GO Biological Process (16): autophagy (GO:0006914), regulation of autophagy (GO:0010506), positive regulation of macroautophagy (GO:0016239), cellular response to nutrient levels (GO:0031669), positive regulation of TOR signaling (GO:0032008), cellular response to amino acid starvation (GO:0034198), protein localization to plasma membrane (GO:0072659), protein K6-linked ubiquitination (GO:0085020), negative regulation of TORC1 signaling (GO:1904262), positive regulation of TORC1 signaling (GO:1904263), cytoplasmic translation (GO:0002181), protein ubiquitination (GO:0016567), TORC1 signaling (GO:0038202), negative regulation of translational initiation (GO:0045947), positive regulation of translational initiation (GO:0045948), protein localization to lysosome (GO:0061462)
GO Molecular Function (5): zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)
GO Cellular Component (6): lysosomal membrane (GO:0005765), vacuolar membrane (GO:0005774), cytosol (GO:0005829), GATOR2 complex (GO:0061700), lysosome (GO:0005764), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Cellular response to starvation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| TOR signaling | 2 |
| TORC1 signaling | 2 |
| regulation of TORC1 signaling | 2 |
| translational initiation | 2 |
| regulation of translational initiation | 2 |
| cellular anatomical structure | 2 |
| catabolic process | 1 |
| transmembrane transport | 1 |
| process utilizing autophagic mechanism | 1 |
| autophagy | 1 |
| regulation of catabolic process | 1 |
| positive regulation of autophagy | 1 |
| macroautophagy | 1 |
| regulation of macroautophagy | 1 |
| response to nutrient levels | 1 |
| cellular response to stimulus | 1 |
| regulation of TOR signaling | 1 |
| positive regulation of intracellular signal transduction | 1 |
| cellular response to starvation | 1 |
| response to amino acid starvation | 1 |
| protein localization to membrane | 1 |
| protein localization to cell periphery | 1 |
| protein polyubiquitination | 1 |
| negative regulation of TOR signaling | 1 |
| positive regulation of TOR signaling | 1 |
| translation | 1 |
| protein modification by small protein conjugation | 1 |
| negative regulation of translation | 1 |
| positive regulation of translation | 1 |
| protein localization to vacuole | 1 |
| transition metal ion binding | 1 |
| ubiquitin-protein transferase activity | 1 |
| ubiquitin-like protein ligase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| lysosome | 1 |
| lytic vacuole membrane | 1 |
| vacuole | 1 |
| bounding membrane of organelle | 1 |
Protein interactions and networks
STRING
1086 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| WDR24 | MIOS | Q9NXC5 | 998 |
| WDR24 | SEC13 | P55735 | 997 |
| WDR24 | SEH1L | Q96EE3 | 997 |
| WDR24 | WDR59 | Q6PJI9 | 993 |
| WDR24 | NPRL2 | Q8WTW4 | 848 |
| WDR24 | NPRL3 | Q12980 | 847 |
| WDR24 | DEPDC5 | O75140 | 817 |
| WDR24 | SESN2 | P58004 | 767 |
| WDR24 | RRAGB | Q5VZM2 | 759 |
| WDR24 | RRAGC | Q9HB90 | 732 |
| WDR24 | CASTOR2 | A6NHX0 | 728 |
| WDR24 | RRAGA | Q7L523 | 725 |
| WDR24 | SESN1 | Q9Y6P5 | 724 |
| WDR24 | RRAGD | Q9NQL2 | 715 |
| WDR24 | ITFG2 | Q969R8 | 684 |
IntAct
83 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| WDR24 | MIOS | psi-mi:“MI:0915”(physical association) | 0.940 |
| MIOS | WDR24 | psi-mi:“MI:0915”(physical association) | 0.940 |
| WDR24 | SESN2 | psi-mi:“MI:0915”(physical association) | 0.890 |
| WDR24 | SESN2 | psi-mi:“MI:0914”(association) | 0.890 |
| SESN2 | WDR24 | psi-mi:“MI:0914”(association) | 0.890 |
| SESN2 | WDR24 | psi-mi:“MI:0915”(physical association) | 0.890 |
| NPRL2 | NPRL3 | psi-mi:“MI:0914”(association) | 0.850 |
| NPRL2 | NPRL3 | psi-mi:“MI:0403”(colocalization) | 0.850 |
| RBBP5 | KMT2D | psi-mi:“MI:0914”(association) | 0.840 |
| MIOS | SEC13 | psi-mi:“MI:0914”(association) | 0.790 |
| CASTOR1 | CASTOR1 | psi-mi:“MI:0914”(association) | 0.770 |
| WDR24 | SEC13 | psi-mi:“MI:0914”(association) | 0.730 |
| CASTOR1 | CASTOR2 | psi-mi:“MI:0914”(association) | 0.710 |
BioGRID (96): WDR24 (Two-hybrid), WDR24 (Affinity Capture-MS), WDR24 (Affinity Capture-MS), WDR24 (Two-hybrid), WDR24 (Affinity Capture-MS), WDR24 (Biochemical Activity), WDR24 (Affinity Capture-MS), WDR24 (Affinity Capture-MS), WDR24 (Affinity Capture-MS), MIOS (Affinity Capture-Western), WDR59 (Affinity Capture-Western), SEH1L (Affinity Capture-Western), SEC13 (Affinity Capture-Western), DEPDC5 (Affinity Capture-Western), NPRL3 (Affinity Capture-Western)
ESM2 similar proteins: A0A396ISC0, O00423, O13286, O17468, O61585, O94423, P26309, P38328, P43254, P53197, P78972, P93471, Q04199, Q05BC3, Q09373, Q12834, Q16MY0, Q2TAF3, Q32SG6, Q3E906, Q4PSE4, Q4V7Y7, Q4V8C3, Q54MZ3, Q5H7C0, Q5ZIU8, Q62623, Q652L2, Q6DIP5, Q6NVM2, Q6S7B0, Q7K0L4, Q7ZUV2, Q7ZVL2, Q7ZX22, Q86Y33, Q8BG40, Q8CFJ9, Q8L3Z8, Q8LPL5
Diamond homologs: A5E6M3, A6ZN74, A7TR10, B3LIS9, C5DJV1, C5DSV0, C7GV13, C8ZHH9, Q08281, Q5ZMV9, Q6CME1, Q6FVJ1, Q75AV6, Q7ZVL2, Q8CFJ9, Q96S15, Q7ZX22, Q9VKK2, A3GIA4, B9WN49, C4Y5P7, C4YN69, C5MIB1, Q5ACL4, Q6BXX5, A2AKB9, A7RHG8, B2AEZ5, B2B766, B4JPT9, B9WD30, C4YPI7, C5MJE8, O14021, O22466, O22467, O22468, O22469, O93377, O94244
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| WDR24 | “form complex” | GATOR2 | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 47 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 |
|---|---|---|---|
| Amino acids regulate mTORC1 | 11 | 61.2× | 3e-15 |
| Cellular response to starvation | 7 | 32.2× | 2e-07 |
| Cellular responses to stress | 10 | 10.2× | 2e-06 |
| Cellular responses to stimuli | 10 | 8.7× | 8e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of TORC1 signaling | 12 | 90.4× | 6e-19 |
| cellular response to amino acid starvation | 11 | 81.3× | 6e-17 |
| positive regulation of TORC1 signaling | 6 | 41.2× | 5e-07 |
| protein stabilization | 5 | 7.8× | 6e-03 |
| intracellular protein transport | 5 | 7.5× | 6e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
120 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 107 |
| Likely benign | 7 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1978 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:685019:ATGGG:A | donor_gain | 1.0000 |
| 16:685172:TGCTC:T | acceptor_gain | 1.0000 |
| 16:685174:CTC:C | acceptor_gain | 1.0000 |
| 16:685175:TC:T | acceptor_gain | 1.0000 |
| 16:685176:CC:C | acceptor_gain | 1.0000 |
| 16:685177:C:CC | acceptor_gain | 1.0000 |
| 16:685177:CTGG:C | acceptor_loss | 1.0000 |
| 16:685178:T:G | acceptor_loss | 1.0000 |
| 16:685253:ACACC:A | donor_loss | 1.0000 |
| 16:685256:C:T | donor_loss | 1.0000 |
| 16:685677:A:AC | donor_gain | 1.0000 |
| 16:685678:C:CC | donor_gain | 1.0000 |
| 16:685678:CG:C | donor_gain | 1.0000 |
| 16:685678:CGGTG:C | donor_gain | 1.0000 |
| 16:685780:TTAT:T | acceptor_gain | 1.0000 |
| 16:685781:TAT:T | acceptor_gain | 1.0000 |
| 16:685782:ATC:A | acceptor_loss | 1.0000 |
| 16:685783:TCT:T | acceptor_loss | 1.0000 |
| 16:685784:C:CA | acceptor_loss | 1.0000 |
| 16:685784:C:CC | acceptor_gain | 1.0000 |
| 16:685785:T:A | acceptor_loss | 1.0000 |
| 16:685789:C:T | acceptor_gain | 1.0000 |
| 16:685790:G:T | acceptor_gain | 1.0000 |
| 16:685867:AC:A | donor_gain | 1.0000 |
| 16:685868:CC:C | donor_gain | 1.0000 |
| 16:685868:CCCT:C | donor_gain | 1.0000 |
| 16:685986:TGAAA:T | acceptor_gain | 1.0000 |
| 16:685991:C:CC | acceptor_gain | 1.0000 |
| 16:686739:CCTA:C | donor_gain | 1.0000 |
| 16:684988:CCA:C | donor_loss | 0.9900 |
AlphaMissense
5242 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:684880:A:G | C743R | 1.000 |
| 16:684999:A:G | C733R | 1.000 |
| 16:685039:G:C | C719W | 1.000 |
| 16:685041:A:G | C719R | 1.000 |
| 16:686174:A:G | W449R | 1.000 |
| 16:686174:A:T | W449R | 1.000 |
| 16:687119:C:A | K319N | 1.000 |
| 16:687119:C:G | K319N | 1.000 |
| 16:687161:C:A | W305C | 1.000 |
| 16:687161:C:G | W305C | 1.000 |
| 16:687162:C:G | W305S | 1.000 |
| 16:687163:A:G | W305R | 1.000 |
| 16:687163:A:T | W305R | 1.000 |
| 16:687233:C:A | W281C | 1.000 |
| 16:687233:C:G | W281C | 1.000 |
| 16:687235:A:G | W281R | 1.000 |
| 16:687235:A:T | W281R | 1.000 |
| 16:687237:A:T | V280D | 1.000 |
| 16:687270:G:T | T269K | 1.000 |
| 16:687273:G:T | A268D | 1.000 |
| 16:687274:C:G | A268P | 1.000 |
| 16:687299:C:A | W259C | 1.000 |
| 16:687299:C:G | W259C | 1.000 |
| 16:687300:C:G | W259S | 1.000 |
| 16:687301:A:G | W259R | 1.000 |
| 16:687301:A:T | W259R | 1.000 |
| 16:687321:G:T | A252D | 1.000 |
| 16:687371:C:A | W235C | 1.000 |
| 16:687371:C:G | W235C | 1.000 |
| 16:687372:C:G | W235S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000709095 (16:688058 T>C,G), RS1001145224 (16:691073 T>C,G), RS1001194178 (16:684298 G>A,C), RS1001333493 (16:690549 G>T), RS1001429415 (16:688007 G>A,C,T), RS1001460664 (16:688325 C>A), RS1001783449 (16:691981 A>G), RS1002097573 (16:692159 G>A), RS1002479150 (16:687317 C>T), RS1002796321 (16:691193 C>T), RS1003067741 (16:691572 G>A,T), RS1003098762 (16:691384 G>A), RS1003650523 (16:684783 C>A,G,T), RS1003711995 (16:686517 A>G), RS1004445903 (16:691393 G>A,C,T)
Disease associations
OMIM: gene MIM:620307 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST008810_72 | Smoking initiation (ever regular vs never regular) | 5.000000e-09 |
| GCST012227_279 | Hip circumference adjusted for BMI | 3.000000e-12 |
| GCST90000047_259 | Age at first sexual intercourse | 5.000000e-11 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005670 | smoking initiation |
| EFO:0008039 | BMI-adjusted hip circumference |
| EFO:0009749 | age at first sexual intercourse measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
1 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs11640115 | Efficacy | 3 | aspirin;clopidogrel | Acute coronary syndrome;Major Adverse Cardiac Events (MACE) |
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs11640115 | JMJD8, WDR24 | 3 | 3.50 | 1 | aspirin;clopidogrel |
CTD chemical–gene interactions
20 total (human), top 20 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases methylation | 1 |
| sodium arsenite | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| abrine | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | increases methylation | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Caffeine | affects phosphorylation | 1 |
| Methapyrilene | increases methylation | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Vanadium | increases abundance, increases methylation | 1 |
| Metals, Heavy | increases abundance, increases methylation | 1 |
| Lactic Acid | decreases expression | 1 |
| Acrylamide | decreases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
Cellosaurus cell lines
3 cell lines: 2 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D9VQ | Ubigene HEK293 WDR24 KO | Transformed cell line | Female |
| CVCL_TX86 | HAP1 WDR24 (-) 1 | Cancer cell line | Male |
| CVCL_TX87 | HAP1 WDR24 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.