WDR90
gene geneOn this page
Also known as FLJ36483KIAA1924POC16
Summary
WDR90 (WD repeat domain 90, HGNC:26960) is a protein-coding gene on chromosome 16p13.3, encoding WD repeat-containing protein 90 (Q96KV7). Microtubule-binding protein that plays a crucial role in ensuring inner core protein localization within the centriole core, as well as in maintaining the microtubule wall integrity and the overall centriole roundness and stability.
Enables microtubule binding activity. Involved in centriole elongation and cilium assembly. Located in microtubule organizing center and plasma membrane.
Source: NCBI Gene 197335 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 488 total
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_145294
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26960 |
| Approved symbol | WDR90 |
| Name | WD repeat domain 90 |
| Location | 16p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ36483, KIAA1924, POC16 |
| Ensembl gene | ENSG00000161996 |
| Ensembl biotype | protein_coding |
| OMIM | 618290 |
| Entrez | 197335 |
Gene structure
Transcript identifiers
Ensembl transcripts: 34 — 16 protein_coding, 13 retained_intron, 4 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000293879, ENST00000315764, ENST00000420061, ENST00000546516, ENST00000546896, ENST00000546923, ENST00000547407, ENST00000547543, ENST00000547944, ENST00000548448, ENST00000548603, ENST00000548844, ENST00000548859, ENST00000549024, ENST00000549091, ENST00000549648, ENST00000550593, ENST00000550739, ENST00000550902, ENST00000551100, ENST00000552648, ENST00000552683, ENST00000552728, ENST00000552943, ENST00000553080, ENST00000909859, ENST00000909860, ENST00000909861, ENST00000909862, ENST00000909863, ENST00000909864, ENST00000936386, ENST00000936387, ENST00000936388
RefSeq mRNA: 1 — MANE Select: NM_145294
NM_145294
CCDS: CCDS42092
Canonical transcript exons
ENST00000293879 — 41 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001237894 | 662679 | 662844 |
| ENSE00002364485 | 649365 | 649426 |
| ENSE00003477711 | 661051 | 661172 |
| ENSE00003483889 | 665679 | 665801 |
| ENSE00003486184 | 656732 | 656871 |
| ENSE00003486483 | 657091 | 657221 |
| ENSE00003487046 | 653525 | 653670 |
| ENSE00003487566 | 660612 | 660714 |
| ENSE00003489589 | 649763 | 649854 |
| ENSE00003492437 | 649991 | 650167 |
| ENSE00003497972 | 658896 | 659011 |
| ENSE00003498740 | 667432 | 667830 |
| ENSE00003498910 | 659086 | 659126 |
| ENSE00003500018 | 661597 | 661787 |
| ENSE00003504515 | 661891 | 662059 |
| ENSE00003508279 | 650254 | 650362 |
| ENSE00003521562 | 659245 | 659376 |
| ENSE00003524232 | 656302 | 656537 |
| ENSE00003524760 | 658183 | 658344 |
| ENSE00003531797 | 653746 | 653803 |
| ENSE00003551780 | 651644 | 651747 |
| ENSE00003560666 | 653341 | 653451 |
| ENSE00003560877 | 660058 | 660161 |
| ENSE00003586507 | 650539 | 650709 |
| ENSE00003589218 | 655307 | 655468 |
| ENSE00003599875 | 650995 | 651103 |
| ENSE00003599886 | 652467 | 652535 |
| ENSE00003605594 | 655773 | 655889 |
| ENSE00003606974 | 655573 | 655703 |
| ENSE00003607183 | 651199 | 651266 |
| ENSE00003612140 | 666673 | 666792 |
| ENSE00003617889 | 658525 | 658653 |
| ENSE00003618037 | 666455 | 666598 |
| ENSE00003629393 | 655029 | 655147 |
| ENSE00003631033 | 661342 | 661501 |
| ENSE00003639177 | 651827 | 652039 |
| ENSE00003652971 | 665950 | 666124 |
| ENSE00003655536 | 657762 | 657892 |
| ENSE00003661333 | 666905 | 666989 |
| ENSE00003688942 | 666220 | 666350 |
| ENSE00003691241 | 662220 | 662331 |
Expression profiles
Bgee: expression breadth ubiquitous, 219 present calls, max score 98.78.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.2197 / max 256.9497, expressed in 1605 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 151962 | 7.5442 | 1574 |
| 151961 | 0.6755 | 400 |
Top tissues by expression
249 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right uterine tube | UBERON:0001302 | 98.78 | gold quality |
| right testis | UBERON:0004534 | 98.30 | gold quality |
| left testis | UBERON:0004533 | 98.23 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 95.33 | gold quality |
| adenohypophysis | UBERON:0002196 | 95.17 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 94.98 | gold quality |
| left ovary | UBERON:0002119 | 94.88 | gold quality |
| testis | UBERON:0000473 | 94.74 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 94.42 | gold quality |
| right adrenal gland | UBERON:0001233 | 94.37 | gold quality |
| pituitary gland | UBERON:0000007 | 94.34 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 94.17 | gold quality |
| right ovary | UBERON:0002118 | 94.08 | gold quality |
| metanephros cortex | UBERON:0010533 | 94.07 | gold quality |
| left uterine tube | UBERON:0001303 | 93.96 | gold quality |
| thyroid gland | UBERON:0002046 | 93.84 | gold quality |
| body of uterus | UBERON:0009853 | 93.71 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 93.69 | gold quality |
| endocervix | UBERON:0000458 | 93.50 | gold quality |
| left adrenal gland | UBERON:0001234 | 93.43 | gold quality |
| ventricular zone | UBERON:0003053 | 93.21 | gold quality |
| adrenal cortex | UBERON:0001235 | 93.07 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 93.06 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 92.85 | gold quality |
| cerebellar cortex | UBERON:0002129 | 92.78 | gold quality |
| peripheral nervous system | UBERON:0000010 | 92.66 | gold quality |
| tibial nerve | UBERON:0001323 | 92.66 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 92.55 | gold quality |
| ectocervix | UBERON:0012249 | 92.21 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 92.06 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.68 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
11 targeting WDR90, 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-221-5P | 99.86 | 65.45 | 1052 |
| HSA-MIR-8073 | 99.86 | 65.21 | 1118 |
| HSA-MIR-556-3P | 99.74 | 68.75 | 1203 |
| HSA-MIR-494-3P | 99.70 | 71.45 | 2795 |
| HSA-MIR-365A-3P | 99.43 | 70.02 | 836 |
| HSA-MIR-365B-3P | 99.43 | 70.02 | 836 |
| HSA-MIR-4641 | 99.28 | 66.64 | 744 |
| HSA-MIR-10399-5P | 99.17 | 69.87 | 2610 |
| HSA-MIR-6504-3P | 99.17 | 69.31 | 2891 |
| HSA-MIR-8053 | 92.82 | 66.12 | 79 |
| HSA-MIR-9899 | 91.24 | 59.59 | 90 |
Literature-anchored findings (GeneRIF, showing 3)
- This study identified POB15 and POC16 as two proteins of the central core region, the distribution of which correlates with that of tubulin glutamylation; POB15 is an inner barrel protein within this region. Two poc16 mutants exhibit flagellar defects, indicating that POC16 is important for flagellum biogenesis. Human WDR90 is required for ciliogenesis, echoing the findings in Chlamydomonas. (PMID:28781053)
- Study describes WD repeat containing protein 90 (WDR90) as a new inflammasome component. Reconstitution experiments of the human inflammasome in HEK293cells demonstrated that WDR90 was able to physically interact with and to alter the cellular distribution of NLRC4, but not of NLRP3 and AIM2. (PMID:31276698)
- WDR90 is a centriolar microtubule wall protein important for centriole architecture integrity. (PMID:32946374)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | wdr90 | ENSDARG00000079241 |
| mus_musculus | Wdr90 | ENSMUSG00000073434 |
Paralogs (9): EML1 (ENSG00000066629), EML2 (ENSG00000125746), EML4 (ENSG00000143924), EML3 (ENSG00000149499), CFAP251 (ENSG00000158023), EML5 (ENSG00000165521), CFAP52 (ENSG00000166596), CFAP44 (ENSG00000206530), EML6 (ENSG00000214595)
Protein
Protein identifiers
WD repeat-containing protein 90 — Q96KV7 (reviewed: Q96KV7)
All UniProt accessions (7): Q96KV7, F8VUX9, G3V201, H0YHN4, H0YHV6, H0YI59, H0YIW5
UniProt curated annotations — full annotation on UniProt →
Function. Microtubule-binding protein that plays a crucial role in ensuring inner core protein localization within the centriole core, as well as in maintaining the microtubule wall integrity and the overall centriole roundness and stability. Required for efficient primary cilium formation.
Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriole. Centriolar satellite.
Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Similarity. Belongs to the WD repeat WDR90/POC16 family.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96KV7-1 | 1 | yes |
| Q96KV7-10 | 2 | |
| Q96KV7-3 | 3 | |
| Q96KV7-7 | 4 | |
| Q96KV7-5 | 5 |
RefSeq proteins (1): NP_660337* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001680 | WD40_rpt | Repeat |
| IPR007714 | CFA20_dom | Domain |
| IPR011047 | Quinoprotein_ADH-like_sf | Homologous_superfamily |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR019775 | WD40_repeat_CS | Conserved_site |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
| IPR050630 | WD_repeat_EMAP | Family |
| IPR055440 | Beta-prop_WDR90_4th | Domain |
| IPR055441 | Beta-prop_WDR90_POC16_2nd | Domain |
Pfam: PF00400, PF05018, PF23342, PF23393
UniProt features (44 total): repeat 21, splice variant 8, sequence variant 6, sequence conflict 4, region of interest 3, chain 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96KV7-F1 | 77.73 | 0.34 |
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): 241
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 107 (showing top):
GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, CMYB_01, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_CENTRIOLE_ASSEMBLY, GOBP_CILIUM_ORGANIZATION, GOCC_CENTROSOME, GOBP_ORGANELLE_ASSEMBLY, ELK1_01, DOUGLAS_BMI1_TARGETS_UP, GOBP_CELL_PROJECTION_ORGANIZATION, GOBP_CENTROSOME_DUPLICATION, GOCC_CENTRIOLE, MASSARWEH_TAMOXIFEN_RESISTANCE_UP, RFX1_01, GOCC_CILIUM
GO Biological Process (3): cilium assembly (GO:0060271), centriole elongation (GO:0061511), cell projection organization (GO:0030030)
GO Molecular Function (2): microtubule binding (GO:0008017), protein binding (GO:0005515)
GO Cellular Component (9): centrosome (GO:0005813), centriole (GO:0005814), microtubule (GO:0005874), plasma membrane (GO:0005886), centriolar satellite (GO:0034451), ciliary basal body (GO:0036064), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cilium (GO:0005929)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| microtubule organizing center | 3 |
| intracellular membraneless organelle | 2 |
| cellular anatomical structure | 2 |
| axoneme assembly | 1 |
| intraciliary transport involved in cilium assembly | 1 |
| cilium organization | 1 |
| protein localization to cilium | 1 |
| organelle assembly | 1 |
| trans-Golgi to periciliary membrane compartment transport | 1 |
| plasma membrane bounded cell projection assembly | 1 |
| ciliary transition zone assembly | 1 |
| centriole replication | 1 |
| cell cycle process | 1 |
| cellular component organization | 1 |
| tubulin binding | 1 |
| binding | 1 |
| centriole | 1 |
| microtubule cytoskeleton | 1 |
| polymeric cytoskeletal fiber | 1 |
| membrane | 1 |
| cell periphery | 1 |
| centrosome | 1 |
| cilium | 1 |
| intracellular anatomical structure | 1 |
| intraciliary transport particle | 1 |
| membrane-bounded organelle | 1 |
| plasma membrane bounded cell projection | 1 |
Protein interactions and networks
STRING
3923 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| WDR90 | POC5 | Q8NA72 | 871 |
| WDR90 | POC1B | Q8TC44 | 718 |
| WDR90 | FAM161A | Q3B820 | 708 |
| WDR90 | CETN2 | P41208 | 541 |
| WDR90 | WDR24 | Q96S15 | 484 |
| WDR90 | CCDC77 | Q9BR77 | 449 |
| WDR90 | EFR3A | Q14156 | 447 |
| WDR90 | KRTAP10-4 | P60372 | 445 |
| WDR90 | SPICE1 | Q8N0Z3 | 442 |
| WDR90 | SASS6 | Q6UVJ0 | 438 |
| WDR90 | CCDC138 | Q96M89 | 435 |
| WDR90 | EFHC1 | Q5JVL4 | 434 |
| WDR90 | RHBDL1 | O75783 | 422 |
| WDR90 | TUBD1 | Q9UJT1 | 406 |
| WDR90 | CCDC61 | Q9Y6R9 | 400 |
IntAct
31 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MED4 | MED19 | psi-mi:“MI:2364”(proximity) | 0.900 |
| CSNK1E | PER1 | psi-mi:“MI:0914”(association) | 0.840 |
| DYNLL1 | BLTP3B | psi-mi:“MI:0914”(association) | 0.730 |
| FKBP5 | PDIK1L | psi-mi:“MI:0914”(association) | 0.640 |
| RBPMS | WDR90 | psi-mi:“MI:0915”(physical association) | 0.560 |
| WDR90 | RBPMS | psi-mi:“MI:0915”(physical association) | 0.560 |
| MAP1LC3B | WDR90 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| WDR90 | NUDC | psi-mi:“MI:0915”(physical association) | 0.400 |
| Cep135 | psi-mi:“MI:0914”(association) | 0.350 | |
| TACC3 | DHRS2 | psi-mi:“MI:0914”(association) | 0.350 |
| Cep120 | TBC1D31 | psi-mi:“MI:0914”(association) | 0.350 |
| CEP43 | CCHCR1 | psi-mi:“MI:0914”(association) | 0.350 |
| THOC2 | psi-mi:“MI:0914”(association) | 0.350 | |
| Cep131 | WBP2 | psi-mi:“MI:0914”(association) | 0.350 |
| OFD1 | CCDC14 | psi-mi:“MI:0914”(association) | 0.350 |
| CEP135 | TBC1D31 | psi-mi:“MI:0914”(association) | 0.350 |
| Cep43 | TBC1D31 | psi-mi:“MI:0914”(association) | 0.350 |
| Ankrd26 | TBC1D31 | psi-mi:“MI:0914”(association) | 0.350 |
| Prkar2a | TBC1D31 | psi-mi:“MI:0914”(association) | 0.350 |
| Lrrcc1 | CCDC14 | psi-mi:“MI:0914”(association) | 0.350 |
| Cep72 | TBC1D31 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPRE1 | CTNNB1 | psi-mi:“MI:0914”(association) | 0.350 |
| Pcm1 | TBC1D31 | psi-mi:“MI:0914”(association) | 0.350 |
| CCDC14 | TBC1D31 | psi-mi:“MI:0914”(association) | 0.350 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| WDR90 | CLUH | psi-mi:“MI:0914”(association) | 0.350 |
| FTL | psi-mi:“MI:0914”(association) | 0.350 | |
| CFTR | UBA6 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (51): WDR90 (Two-hybrid), SUGT1 (Affinity Capture-MS), CLUH (Affinity Capture-MS), DPP8 (Affinity Capture-MS), WDR90 (Proximity Label-MS), WDR90 (Affinity Capture-MS), WDR90 (Affinity Capture-MS), WDR90 (Affinity Capture-MS), WDR90 (Affinity Capture-MS), WDR90 (Affinity Capture-MS), WDR90 (Affinity Capture-MS), WDR90 (Affinity Capture-MS), WDR90 (Affinity Capture-MS), WDR90 (Affinity Capture-MS), WDR90 (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: A0JP70, P62883, P62884, Q25306, Q6ZPG2, Q96KV7, A0A223GEB2, A1CQI9, A1CUD6, A1D3F5, A2QPZ4, A5DWF4, A6QX61, A8WSU9, B0XM00, B0XQ42, B2AEZ5, B2B766, C0NRC6, C4JZS6, C6HTE8, D1ZEB4, F1M5N7, G0SCK6, G1SJB4, G4MQX3, O13982, O18640, O24076, O24456, O42248, O42249, O54927, O75037, P16520, P25387, P25635, P26308, P38011, P46800
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 37 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 |
|---|---|---|---|
| Loss of Nlp from mitotic centrosomes | 6 | 50.1× | 1e-07 |
| Loss of proteins required for interphase microtubule organization from the centrosome | 6 | 50.1× | 1e-07 |
| AURKA Activation by TPX2 | 6 | 48.1× | 1e-07 |
| Recruitment of mitotic centrosome proteins and complexes | 6 | 42.9× | 1e-07 |
| Regulation of PLK1 Activity at G2/M Transition | 6 | 40.1× | 2e-07 |
| Recruitment of NuMA to mitotic centrosomes | 6 | 36.8× | 3e-07 |
| Anchoring of the basal body to the plasma membrane | 6 | 35.7× | 3e-07 |
| Mitotic Prometaphase | 5 | 18.2× | 1e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
488 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 373 |
| Likely benign | 59 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
6567 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:649851:CACG:C | donor_loss | 1.0000 |
| 16:649852:ACGGT:A | donor_loss | 1.0000 |
| 16:649855:G:GA | donor_loss | 1.0000 |
| 16:649856:T:A | donor_loss | 1.0000 |
| 16:650166:AGGT:A | donor_loss | 1.0000 |
| 16:650167:GGT:G | donor_loss | 1.0000 |
| 16:650296:GAGTT:G | donor_gain | 1.0000 |
| 16:650409:G:GT | donor_gain | 1.0000 |
| 16:650675:G:GT | donor_gain | 1.0000 |
| 16:650676:A:T | donor_gain | 1.0000 |
| 16:650683:ACACC:A | donor_gain | 1.0000 |
| 16:650692:ACCT:A | donor_gain | 1.0000 |
| 16:650705:GCCTG:G | donor_gain | 1.0000 |
| 16:650707:CTGGT:C | donor_loss | 1.0000 |
| 16:650991:GTAGC:G | acceptor_loss | 1.0000 |
| 16:650992:TAGCC:T | acceptor_loss | 1.0000 |
| 16:650993:A:AG | acceptor_gain | 1.0000 |
| 16:650993:A:AT | acceptor_loss | 1.0000 |
| 16:650994:G:GG | acceptor_gain | 1.0000 |
| 16:650994:GCC:G | acceptor_gain | 1.0000 |
| 16:650994:GCCAT:G | acceptor_gain | 1.0000 |
| 16:651099:GTCCG:G | donor_gain | 1.0000 |
| 16:651104:G:GG | donor_gain | 1.0000 |
| 16:651104:GTGA:G | donor_loss | 1.0000 |
| 16:651105:T:A | donor_loss | 1.0000 |
| 16:651196:AAG:A | acceptor_gain | 1.0000 |
| 16:651197:A:G | acceptor_gain | 1.0000 |
| 16:651642:A:AG | acceptor_gain | 1.0000 |
| 16:651643:G:GA | acceptor_gain | 1.0000 |
| 16:651743:CAGCC:C | donor_gain | 1.0000 |
AlphaMissense
11309 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:650571:T:A | W141R | 0.995 |
| 16:650571:T:C | W141R | 0.995 |
| 16:650688:A:C | S180R | 0.994 |
| 16:650690:T:A | S180R | 0.994 |
| 16:650690:T:G | S180R | 0.994 |
| 16:658962:A:C | S988R | 0.993 |
| 16:658964:C:A | S988R | 0.993 |
| 16:658964:C:G | S988R | 0.993 |
| 16:665746:G:C | R1460P | 0.993 |
| 16:661060:C:A | A1134D | 0.991 |
| 16:665722:C:A | T1452K | 0.991 |
| 16:657149:A:C | S801R | 0.990 |
| 16:657151:C:A | S801R | 0.990 |
| 16:657151:C:G | S801R | 0.990 |
| 16:665751:T:A | W1462R | 0.990 |
| 16:665751:T:C | W1462R | 0.990 |
| 16:650573:G:C | W141C | 0.989 |
| 16:650573:G:T | W141C | 0.989 |
| 16:650671:T:A | V174D | 0.989 |
| 16:660699:T:A | W1126R | 0.989 |
| 16:660699:T:C | W1126R | 0.989 |
| 16:662755:G:C | G1408R | 0.989 |
| 16:653603:T:A | W438R | 0.988 |
| 16:653603:T:C | W438R | 0.988 |
| 16:658986:T:A | W996R | 0.987 |
| 16:658986:T:C | W996R | 0.987 |
| 16:650052:T:A | I55N | 0.986 |
| 16:662252:A:C | S1356R | 0.986 |
| 16:662254:C:A | S1356R | 0.986 |
| 16:662254:C:G | S1356R | 0.986 |
dbSNP variants (sampled 300 via entrez): RS1000045050 (16:651541 C>G,T), RS1000168162 (16:660439 G>T), RS1000267668 (16:647113 G>A,T), RS1000617492 (16:664765 C>T), RS1000643825 (16:657763 G>A,T), RS1000694650 (16:657590 G>A,C), RS1000881543 (16:654310 C>A), RS1001257429 (16:658075 C>G), RS1001378990 (16:654988 G>A,T), RS1001431109 (16:654877 C>T), RS1001437314 (16:662897 C>G,T), RS1001560580 (16:651206 A>C,G,T), RS1001723536 (16:649814 G>A), RS1001989805 (16:666805 G>C), RS1002017500 (16:660843 G>A,C)
Disease associations
OMIM: gene MIM:618290 | disease phenotypes: MIM:209850
GenCC curated gene-disease
Mondo (1): autism (MONDO:0005260)
Orphanet (0):
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000717 | Autism |
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001873_8 | Red blood cell traits | 4.000000e-22 |
| GCST005951_12 | Body mass index | 5.000000e-11 |
| GCST006630_71 | Diastolic blood pressure | 3.000000e-12 |
| GCST010796_5294 | Electrocardiogram morphology (amplitude at temporal datapoints) | 9.000000e-09 |
| GCST010796_5295 | Electrocardiogram morphology (amplitude at temporal datapoints) | 5.000000e-08 |
| GCST010796_5296 | Electrocardiogram morphology (amplitude at temporal datapoints) | 4.000000e-08 |
| GCST010796_5297 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-08 |
| GCST011703_22 | Smoking initiation | 7.000000e-09 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0006336 | diastolic blood pressure |
| EFO:0004327 | electrocardiography |
| EFO:0005670 | smoking initiation |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D001321 | Autistic Disorder | F03.625.164.113.500 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
43 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects expression, decreases expression, affects cotreatment, increases abundance, increases expression | 6 |
| Arsenic | affects cotreatment, decreases expression, increases abundance, increases expression, affects methylation | 3 |
| methacrylaldehyde | increases oxidation, increases abundance, affects cotreatment | 2 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 2 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation, increases expression | 2 |
| Benzo(a)pyrene | increases methylation, affects methylation | 2 |
| Ozone | affects cotreatment, increases oxidation, increases abundance | 2 |
| Smoke | decreases expression, increases abundance, increases expression | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| Cadmium Chloride | decreases expression, increases expression | 2 |
| bisphenol F | affects cotreatment, decreases expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| propionaldehyde | decreases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| beta-methylcholine | affects expression | 1 |
| abrine | increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Caffeine | increases phosphorylation | 1 |
| Cisplatin | decreases expression, affects cotreatment | 1 |
| Copper | affects binding, decreases expression | 1 |
| Demecolcine | decreases expression | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Manganese | decreases expression, increases abundance, affects cotreatment | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00211796 | PHASE4 | COMPLETED | Divalproex Sodium ER in Adult Autism |
| NCT00391261 | PHASE4 | COMPLETED | An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications. |
| NCT00409747 | PHASE4 | COMPLETED | Minocycline to Treat Childhood Regressive Autism |
| NCT00576732 | PHASE4 | COMPLETED | A Study of the Effectiveness and Safety of Two Doses of Risperidone in the Treatment of Children and Adolescents With Autistic Disorder |
| NCT00844753 | PHASE4 | COMPLETED | Atomoxetine, Placebo and Parent Management Training in Autism |
| NCT01028820 | PHASE4 | COMPLETED | FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders |
| NCT01098383 | PHASE4 | UNKNOWN | Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Spectrum Disorders |
| NCT01333865 | PHASE4 | COMPLETED | A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders |
| NCT01337700 | PHASE4 | COMPLETED | Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism |
| NCT01695200 | PHASE4 | COMPLETED | Omega-3 Fatty Acids in Autism Spectrum Disorders |
| NCT02069977 | PHASE4 | UNKNOWN | Study to Evaluate the Efficacy and Safety of Aripiprazole |
| NCT02096952 | PHASE4 | COMPLETED | Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD |
| NCT02199925 | PHASE4 | UNKNOWN | An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum |
| NCT02235467 | PHASE4 | COMPLETED | Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism |
| NCT02255565 | PHASE4 | COMPLETED | Dose Response Effects of Quillivant XR in Children With ADHD and Autism: A Pilot Study |
| NCT02940574 | PHASE4 | COMPLETED | Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders |
| NCT03333629 | PHASE4 | COMPLETED | Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes |
| NCT03337646 | PHASE4 | COMPLETED | Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism |
| NCT03538431 | PHASE4 | COMPLETED | Improving Driving in Young People With Autism Spectrum Disorders |
| NCT03757585 | PHASE4 | COMPLETED | Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD) |
| NCT04903353 | PHASE4 | COMPLETED | Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole |
| NCT05063656 | PHASE4 | COMPLETED | Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin |
| NCT05146245 | PHASE4 | UNKNOWN | Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT |
| NCT05916339 | PHASE4 | RECRUITING | AWARE: Management of ADHD in Autism Spectrum Disorder |
| NCT05954052 | PHASE4 | TERMINATED | A Study of Glutathione in Children With Autism Spectrum Disorder |
| NCT06853665 | PHASE4 | RECRUITING | The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine |
| NCT07054697 | PHASE4 | COMPLETED | Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder |
| NCT07161804 | PHASE4 | COMPLETED | Pilot RCT Using Homeopathic Medicines in ASD |
| NCT07439042 | PHASE4 | NOT_YET_RECRUITING | Buspirone for Anxiety in Autistic Youth |
| NCT00036231 | PHASE3 | TERMINATED | Synthetic Human Secretin in Children With Autism and Gastrointestinal Dysfunction |
| NCT00036244 | PHASE3 | COMPLETED | Synthetic Human Secretin in Children With Autism |
| NCT00065884 | PHASE3 | UNKNOWN | Valproate Response in Aggressive Autistic Adolescents |
| NCT00065962 | PHASE3 | COMPLETED | Secretin for the Treatment of Autism |
| NCT00252603 | PHASE3 | COMPLETED | Galantamine Versus Placebo in Childhood Autism |
| NCT00346736 | PHASE3 | COMPLETED | Use of Acupuncture In Children With Autistic Spectrum Disorder |
| NCT00352248 | PHASE3 | COMPLETED | Randomized Controlled Trial of Acupuncture Versus Sham Acupuncture in Autistic Spectrum Disorder |
| NCT00352352 | PHASE3 | COMPLETED | Use of Acupuncture In Children With Autistic Spectrum Disorder |
| NCT00355329 | PHASE3 | COMPLETED | Randomized Control Trial of Using Tongue Acupuncture in Autistic Spectrum Disorder Using PET Scan for Clinical Correlation |
| NCT00498173 | PHASE3 | COMPLETED | Effectiveness of Atomoxetine in Treating ADHD Symptoms in Children and Adolescents With Autism |
| NCT00541346 | PHASE3 | COMPLETED | A Pilot Study of Daytrana TM in Children With Autism Co-Morbid for Attention Deficit Hyperactivity Disorder (ADHD) Symptoms |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.