ZWILCH
gene geneOn this page
Also known as FLJ10036KNTC1AP
Summary
ZWILCH (zwilch kinetochore protein, HGNC:25468) is a protein-coding gene on chromosome 15q22.31, encoding Protein zwilch homolog (Q9H900). Essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis.
Involved in mitotic spindle assembly checkpoint signaling and protein localization to kinetochore. Located in kinetochore. Part of RZZ complex.
Source: NCBI Gene 55055 — RefSeq curated summary.
At a glance
- Gene–disease (curated): autism spectrum disorder (Limited, GenCC)
- GWAS associations: 1
- Clinical variants (ClinVar): 101 total
- Dosage sensitivity (ClinGen): haploinsufficiency little evidence, triplosensitivity no evidence
- MANE Select transcript:
NM_017975
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25468 |
| Approved symbol | ZWILCH |
| Name | zwilch kinetochore protein |
| Location | 15q22.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10036, KNTC1AP |
| Ensembl gene | ENSG00000174442 |
| Ensembl biotype | protein_coding |
| OMIM | 609984 |
| Entrez | 55055 |
Gene structure
Transcript identifiers
Ensembl transcripts: 20 — 14 protein_coding, 4 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000307897, ENST00000446801, ENST00000535141, ENST00000561583, ENST00000562645, ENST00000563698, ENST00000564179, ENST00000564309, ENST00000565627, ENST00000565960, ENST00000567816, ENST00000567926, ENST00000569489, ENST00000613446, ENST00000880580, ENST00000912328, ENST00000912329, ENST00000912330, ENST00000912331, ENST00000912332
RefSeq mRNA: 4 — MANE Select: NM_017975
NM_001287821, NM_001287822, NM_001287823, NM_017975
CCDS: CCDS10219, CCDS73746
Canonical transcript exons
ENST00000307897 — 19 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001199128 | 66508841 | 66508892 |
| ENSE00001199149 | 66535933 | 66536069 |
| ENSE00001199152 | 66532985 | 66533013 |
| ENSE00001199164 | 66528852 | 66528957 |
| ENSE00001252813 | 66540098 | 66540210 |
| ENSE00001252819 | 66537168 | 66537263 |
| ENSE00001252843 | 66532247 | 66532403 |
| ENSE00001252854 | 66529494 | 66529573 |
| ENSE00001252912 | 66520590 | 66520660 |
| ENSE00001252954 | 66546591 | 66546705 |
| ENSE00002602881 | 66548351 | 66550130 |
| ENSE00003473484 | 66527290 | 66527383 |
| ENSE00003475478 | 66523677 | 66523748 |
| ENSE00003521471 | 66518879 | 66519078 |
| ENSE00003530051 | 66527857 | 66527912 |
| ENSE00003541387 | 66515526 | 66515644 |
| ENSE00003541684 | 66505326 | 66505391 |
| ENSE00003598737 | 66521050 | 66521205 |
| ENSE00003682393 | 66513988 | 66514083 |
Expression profiles
Bgee: expression breadth ubiquitous, 241 present calls, max score 98.04.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.7525 / max 288.0773, expressed in 1659 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 147275 | 8.9494 | 1610 |
| 147274 | 0.8030 | 524 |
Top tissues by expression
273 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 98.04 | gold quality |
| male germ cell | CL:0000015 | 95.68 | gold quality |
| ventricular zone | UBERON:0003053 | 91.96 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 91.73 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 91.35 | gold quality |
| endothelial cell | CL:0000115 | 91.00 | gold quality |
| ganglionic eminence | UBERON:0004023 | 89.92 | gold quality |
| secondary oocyte | CL:0000655 | 89.47 | gold quality |
| right testis | UBERON:0004534 | 88.94 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 88.79 | gold quality |
| testis | UBERON:0000473 | 88.72 | gold quality |
| cortical plate | UBERON:0005343 | 88.44 | gold quality |
| left testis | UBERON:0004533 | 88.39 | gold quality |
| embryo | UBERON:0000922 | 87.91 | gold quality |
| gingival epithelium | UBERON:0001949 | 87.75 | gold quality |
| amniotic fluid | UBERON:0000173 | 86.50 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 86.36 | gold quality |
| tibia | UBERON:0000979 | 86.19 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 86.14 | silver quality |
| gingiva | UBERON:0001828 | 85.82 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 84.69 | gold quality |
| visceral pleura | UBERON:0002401 | 83.96 | gold quality |
| oocyte | CL:0000023 | 83.70 | gold quality |
| squamous epithelium | UBERON:0006914 | 83.48 | gold quality |
| adult organism | UBERON:0007023 | 83.31 | gold quality |
| endometrium | UBERON:0001295 | 83.28 | gold quality |
| parietal pleura | UBERON:0002400 | 83.27 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 83.12 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 83.07 | gold quality |
| tendon | UBERON:0000043 | 82.99 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.80 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
61 targeting ZWILCH, 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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-3605-5P | 99.96 | 67.12 | 932 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-218-5P | 99.93 | 72.22 | 2103 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-3919 | 99.87 | 69.45 | 2489 |
| HSA-MIR-4420 | 99.82 | 70.08 | 1624 |
| HSA-MIR-181B-2-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-181B-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-577 | 99.78 | 69.13 | 2479 |
| HSA-MIR-320A-3P | 99.77 | 69.73 | 2107 |
| HSA-MIR-320B | 99.77 | 69.73 | 2107 |
| HSA-MIR-320C | 99.77 | 69.73 | 2107 |
| HSA-MIR-320D | 99.77 | 69.73 | 2107 |
| HSA-MIR-4429 | 99.77 | 69.62 | 2111 |
| HSA-MIR-4524A-3P | 99.72 | 66.85 | 2406 |
| HSA-MIR-1825 | 99.72 | 68.11 | 1089 |
Functional genomics
ClinGen dosage: haploinsufficiency 1 (little evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map
Literature-anchored findings (GeneRIF, showing 1)
- Other name: HZwilch. Homologue of Drosophila Zwilch (CG18729). Localizes to the kinetochore during prometaphase and metaphase of HeLa cells. Complexed with human ROD and human ZW10, similar to situation in Drosophila. (PMID:12686595)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zwilch | ENSDARG00000057100 |
| mus_musculus | Zwilch | ENSMUSG00000032400 |
| rattus_norvegicus | Zwilch | ENSRNOG00000009303 |
| drosophila_melanogaster | Zwilch | FBGN0061476 |
| caenorhabditis_elegans | zwl-1 | WBGENE00021460 |
Protein
Protein identifiers
Protein zwilch homolog — Q9H900 (reviewed: Q9H900)
All UniProt accessions (4): Q9H900, H3BPI7, H3BQ07, H3BSG1
UniProt curated annotations — full annotation on UniProt →
Function. Essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. Required for the assembly of the dynein-dynactin and MAD1-MAD2 complexes onto kinetochores. Its function related to the spindle assembly machinery is proposed to depend on its association in the mitotic RZZ complex.
Subunit / interactions. Component of the RZZ complex composed of KNTC1/ROD, ZW10 and ZWILCH; in the complex interacts directly with KNTC1/ROD.
Subcellular location. Chromosome. Centromere. Kinetochore.
Miscellaneous. ZWILCH gene is deleted in a patient suffering from colorectal cancer with chromosomal instability.
Similarity. Belongs to the ZWILCH family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H900-1 | 1 | yes |
| Q9H900-2 | 2 |
RefSeq proteins (4): NP_001274750, NP_001274751, NP_001274752, NP_060445* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR018630 | Zwilch | Family |
Pfam: PF09817
UniProt features (38 total): helix 15, strand 13, sequence conflict 4, turn 2, chain 1, modified residue 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3IF8 | X-RAY DIFFRACTION | 2.55 |
| 7QPG | ELECTRON MICROSCOPY | 3.9 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H900-F1 | 82.88 | 0.61 |
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): 88
Function
Pathways and Gene Ontology
Reactome pathways
6 pathways
| ID | Pathway |
|---|---|
| R-HSA-141444 | Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal |
| R-HSA-2467813 | Separation of Sister Chromatids |
| R-HSA-2500257 | Resolution of Sister Chromatid Cohesion |
| R-HSA-5663220 | RHO GTPases Activate Formins |
| R-HSA-68877 | Mitotic Prometaphase |
| R-HSA-9648025 | EML4 and NUDC in mitotic spindle formation |
MSigDB gene sets: 262 (showing top):
GOBP_CHROMOSOME_ORGANIZATION, ELVIDGE_HYPOXIA_DN, GOBP_ATTACHMENT_OF_SPINDLE_MICROTUBULES_TO_KINETOCHORE, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_REGULATION_OF_NUCLEAR_DIVISION, GOBP_CHROMOSOME_LOCALIZATION, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_CHROMOSOME_SEPARATION, GGCNKCCATNK_UNKNOWN, PATIL_LIVER_CANCER, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, WEI_MYCN_TARGETS_WITH_E_BOX, OSWALD_HEMATOPOIETIC_STEM_CELL_IN_COLLAGEN_GEL_UP, GOBP_ORGANELLE_FISSION
GO Biological Process (5): mitotic spindle assembly checkpoint signaling (GO:0007094), protein localization to kinetochore (GO:0034501), cell division (GO:0051301), regulation of attachment of spindle microtubules to kinetochore (GO:0051988), mitotic cell cycle checkpoint signaling (GO:0007093)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (6): kinetochore (GO:0000776), kinetochore microtubule (GO:0005828), cytosol (GO:0005829), RZZ complex (GO:1990423), chromosome, centromeric region (GO:0000775), chromosome (GO:0005694)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| Mitotic Prometaphase | 2 |
| Amplification of signal from the kinetochores | 1 |
| Mitotic Anaphase | 1 |
| RHO GTPase Effectors | 1 |
| M Phase | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| mitotic cell cycle | 2 |
| intracellular membraneless organelle | 2 |
| negative regulation of mitotic metaphase/anaphase transition | 1 |
| spindle assembly checkpoint signaling | 1 |
| mitotic spindle checkpoint signaling | 1 |
| protein localization to chromosome, centromeric region | 1 |
| protein localization to condensed chromosome | 1 |
| cellular process | 1 |
| attachment of spindle microtubules to kinetochore | 1 |
| regulation of cell cycle process | 1 |
| cell cycle checkpoint signaling | 1 |
| negative regulation of mitotic cell cycle | 1 |
| mitotic cell cycle process | 1 |
| binding | 1 |
| condensed chromosome, centromeric region | 1 |
| supramolecular complex | 1 |
| spindle microtubule | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
| kinetochore | 1 |
| protein-containing complex | 1 |
| chromosomal region | 1 |
Protein interactions and networks
STRING
1538 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZWILCH | ZW10 | O43264 | 999 |
| ZWILCH | KNTC1 | P50748 | 996 |
| ZWILCH | ZWINT | O95229 | 900 |
| ZWILCH | RINT1 | Q6NUQ1 | 837 |
| ZWILCH | BUB1B | O60566 | 810 |
| ZWILCH | BUB3 | O43684 | 766 |
| ZWILCH | BUB1 | O43683 | 755 |
| ZWILCH | CENPE | Q02224 | 736 |
| ZWILCH | CDC20 | Q12834 | 702 |
| ZWILCH | CENPK | Q9BS16 | 695 |
| ZWILCH | NDC80 | O14777 | 691 |
| ZWILCH | SPDL1 | Q96EA4 | 683 |
| ZWILCH | CENPF | P49454 | 680 |
| ZWILCH | NDE1 | Q9NXR1 | 673 |
| ZWILCH | KNL1 | Q8NG31 | 672 |
IntAct
36 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZW10 | NBAS | psi-mi:“MI:0914”(association) | 0.720 |
| GYPA | TCAF2 | psi-mi:“MI:0914”(association) | 0.640 |
| ZW10 | KNTC1 | psi-mi:“MI:0914”(association) | 0.600 |
| Zw10 | NBAS | psi-mi:“MI:0914”(association) | 0.560 |
| Zw10 | NBAS | psi-mi:“MI:0915”(physical association) | 0.560 |
| KNTC1 | ZWILCH | psi-mi:“MI:0915”(physical association) | 0.540 |
| KNTC1 | ZWILCH | psi-mi:“MI:0407”(direct interaction) | 0.540 |
| ANKRD22 | ESYT2 | psi-mi:“MI:0914”(association) | 0.530 |
| INSR | HAX1 | psi-mi:“MI:0914”(association) | 0.350 |
| PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 | |
| HLA-C | psi-mi:“MI:0914”(association) | 0.350 | |
| H2BC21 | SMCHD1 | psi-mi:“MI:0914”(association) | 0.350 |
| GPR17 | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| OSTM1 | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| EFNA4 | NBAS | psi-mi:“MI:0914”(association) | 0.350 |
| GYPA | HYKK | psi-mi:“MI:0914”(association) | 0.350 |
| GPR182 | METTL15 | psi-mi:“MI:0914”(association) | 0.350 |
| NPTN | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| BTNL9 | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
| FAM234A | IFRD1 | psi-mi:“MI:0914”(association) | 0.350 |
| OPRM1 | EXOC5 | psi-mi:“MI:0914”(association) | 0.350 |
| PACC1 | TNPO2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC2A9 | HIP1R | psi-mi:“MI:0914”(association) | 0.350 |
| CLN5 | ADGRL1 | psi-mi:“MI:0914”(association) | 0.350 |
| NAT14 | INTS12 | psi-mi:“MI:0914”(association) | 0.350 |
| DNAJC25 | TUBAL3 | psi-mi:“MI:0914”(association) | 0.350 |
| FAXC | HAT1 | psi-mi:“MI:0914”(association) | 0.350 |
| FPR1 | NBAS | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (37): ZWILCH (Co-fractionation), ZWILCH (Co-fractionation), ZWILCH (Co-fractionation), ZWILCH (Affinity Capture-MS), ZWILCH (Affinity Capture-MS), ZWILCH (Affinity Capture-MS), ZWILCH (Affinity Capture-MS), ZWILCH (Affinity Capture-MS), ZWILCH (Affinity Capture-RNA), ZWILCH (Proximity Label-MS), ZWILCH (Affinity Capture-MS), ZWILCH (Affinity Capture-MS), ZWILCH (Affinity Capture-MS), ZWILCH (Affinity Capture-MS), ZWILCH (Affinity Capture-MS)
ESM2 similar proteins: A3KNM4, A4IJ27, A6ZNC8, F4J1G1, F4K295, O14278, O36392, O36397, O74387, O74521, P04878, P0C137, P0C139, P0C142, P11455, P11823, P22745, P35193, P49408, P52546, P53348, P62324, P62325, P9WEJ7, P9WEK0, Q01226, Q09302, Q09585, Q0WNP7, Q10095, Q2HR85, Q2HR92, Q567C3, Q5BJJ7, Q5RA78, Q63073, Q77MR6, Q92378, Q9AWL7, Q9CWI3
Diamond homologs: A5WWB6, A6QM04, Q0IJ01, Q5RA78, Q6IRM9, Q8R060, Q9H900, Q9VA00
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ZWILCH | “form complex” | “RZZ complex” | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
101 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 73 |
| Likely benign | 4 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3108 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:66520661:G:GG | donor_gain | 1.0000 |
| 15:66521046:TCAG:T | acceptor_loss | 1.0000 |
| 15:66521047:CAG:C | acceptor_loss | 1.0000 |
| 15:66521205:GGTA:G | donor_loss | 1.0000 |
| 15:66521206:G:C | donor_loss | 1.0000 |
| 15:66521206:G:GG | donor_gain | 1.0000 |
| 15:66521207:T:A | donor_loss | 1.0000 |
| 15:66527341:G:GT | donor_gain | 1.0000 |
| 15:66527371:G:GT | donor_gain | 1.0000 |
| 15:66527372:A:T | donor_gain | 1.0000 |
| 15:66528850:A:AG | acceptor_gain | 1.0000 |
| 15:66528851:G:GA | acceptor_gain | 1.0000 |
| 15:66528955:GTA:G | donor_gain | 1.0000 |
| 15:66528956:TA:T | donor_gain | 1.0000 |
| 15:66528958:G:GG | donor_gain | 1.0000 |
| 15:66529492:A:G | acceptor_gain | 1.0000 |
| 15:66529560:A:AG | donor_gain | 1.0000 |
| 15:66536809:G:GT | donor_gain | 1.0000 |
| 15:66537261:AAGG:A | donor_loss | 1.0000 |
| 15:66537262:AGG:A | donor_loss | 1.0000 |
| 15:66537264:G:GC | donor_loss | 1.0000 |
| 15:66537265:T:G | donor_loss | 1.0000 |
| 15:66546582:T:TA | acceptor_gain | 1.0000 |
| 15:66546587:ACAG:A | acceptor_loss | 1.0000 |
| 15:66546588:CAGAT:C | acceptor_loss | 1.0000 |
| 15:66546589:A:AG | acceptor_gain | 1.0000 |
| 15:66546589:AG:A | acceptor_loss | 1.0000 |
| 15:66546590:G:GA | acceptor_gain | 1.0000 |
| 15:66546590:GA:G | acceptor_gain | 1.0000 |
| 15:66546590:GAT:G | acceptor_gain | 1.0000 |
AlphaMissense
3932 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:66540114:T:A | W531R | 0.996 |
| 15:66540114:T:C | W531R | 0.996 |
| 15:66521149:T:A | W231R | 0.995 |
| 15:66521149:T:C | W231R | 0.995 |
| 15:66528937:T:C | L352P | 0.992 |
| 15:66528939:T:A | W353R | 0.992 |
| 15:66528939:T:C | W353R | 0.992 |
| 15:66535991:T:C | L467P | 0.991 |
| 15:66532362:G:A | G424D | 0.989 |
| 15:66537218:T:C | F510S | 0.989 |
| 15:66518967:T:A | W137R | 0.987 |
| 15:66518967:T:C | W137R | 0.987 |
| 15:66521069:C:A | A204D | 0.986 |
| 15:66521204:T:C | L249P | 0.986 |
| 15:66527326:T:A | W286R | 0.986 |
| 15:66527326:T:C | W286R | 0.986 |
| 15:66532374:T:C | L428P | 0.985 |
| 15:66529548:T:C | L377P | 0.983 |
| 15:66521151:G:C | W231C | 0.981 |
| 15:66521151:G:T | W231C | 0.981 |
| 15:66532350:T:C | L420P | 0.981 |
| 15:66540116:G:C | W531C | 0.981 |
| 15:66540116:G:T | W531C | 0.981 |
| 15:66519015:G:C | A153P | 0.980 |
| 15:66529523:T:C | C369R | 0.980 |
| 15:66537172:T:C | C495R | 0.980 |
| 15:66521074:T:G | Y206D | 0.979 |
| 15:66528931:A:T | E350V | 0.978 |
| 15:66532265:A:C | S392R | 0.977 |
| 15:66532267:T:A | S392R | 0.977 |
dbSNP variants (sampled 300 via entrez): RS1000094159 (15:66517448 A>G), RS1000116453 (15:66535034 A>G), RS1000148401 (15:66515817 C>G,T), RS1000190500 (15:66534672 C>T), RS1000289102 (15:66505351 C>A,G,T), RS1000341897 (15:66544435 A>G,T), RS1000347672 (15:66540935 G>A), RS1000408247 (15:66503846 A>C), RS1000459478 (15:66536498 A>G), RS1000478294 (15:66547148 T>A), RS1000482133 (15:66505594 G>A,T), RS1000528341 (15:66517061 A>G), RS1000562048 (15:66543335 G>A), RS1000639716 (15:66536893 T>A), RS1000690004 (15:66538413 G>A,C,T)
Disease associations
OMIM: gene MIM:609984 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| autism spectrum disorder | Limited | Autosomal dominant |
Mondo (1): autism spectrum disorder (MONDO:0005258)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST008129_25 | Body mass index | 6.000000e-10 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
46 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | increases methylation, decreases expression, increases expression | 3 |
| bisphenol A | decreases expression, affects cotreatment, affects expression, increases abundance | 2 |
| cobaltous chloride | decreases expression | 2 |
| Tretinoin | decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| Particulate Matter | decreases expression, decreases reaction, increases abundance | 2 |
| aristolochic acid I | decreases expression | 1 |
| afuresertib | decreases expression | 1 |
| SP2509 | decreases expression | 1 |
| ginger extract | affects cotreatment, affects expression, increases abundance | 1 |
| dicrotophos | decreases expression | 1 |
| trichostatin A | affects expression | 1 |
| sodium arsenite | decreases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | increases expression, affects cotreatment | 1 |
| coumarin | increases phosphorylation | 1 |
| beta-methylcholine | affects expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | decreases expression, decreases reaction | 1 |
| bisphenol S | increases expression | 1 |
| incobotulinumtoxinA | decreases expression | 1 |
| Dasatinib | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Vehicle Emissions | decreases expression, decreases reaction | 1 |
| Azathioprine | decreases expression | 1 |
| Caffeine | increases phosphorylation | 1 |
| Calcitriol | decreases expression, affects cotreatment | 1 |
| Cisplatin | increases expression | 1 |
| Coumestrol | affects cotreatment, increases expression | 1 |
| Estradiol | increases expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00391261 | PHASE4 | COMPLETED | An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications. |
| NCT01028820 | PHASE4 | COMPLETED | FMRI Brain Activation of Aripiprazole Treatment in 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 |
| NCT02096952 | PHASE4 | COMPLETED | Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD |
| NCT02235467 | PHASE4 | COMPLETED | Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism |
| 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 |
| NCT01302964 | PHASE3 | COMPLETED | Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders |
| NCT01706523 | PHASE3 | TERMINATED | Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders |
| NCT01825798 | PHASE3 | COMPLETED | Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD) |
| NCT01972074 | PHASE3 | COMPLETED | Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder |
| NCT02985749 | PHASE3 | COMPLETED | A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder |
| NCT03197922 | PHASE3 | COMPLETED | Treatment of Encopresis in Children With Autism Spectrum Disorders |
| NCT03504917 | PHASE3 | TERMINATED | A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension |
| NCT03553875 | PHASE3 | TERMINATED | Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions |
| NCT03640156 | PHASE3 | COMPLETED | Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin |
| NCT03715153 | PHASE3 | TERMINATED | Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder. |
| NCT03715166 | PHASE3 | TERMINATED | Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder |
| NCT04233502 | PHASE3 | WITHDRAWN | Efficacy and Safety of Slenyto for Insomnia in Children With ASD |
| NCT04578756 | PHASE3 | COMPLETED | Open-Label, Flexible-dose Study to Evaluate the Long-Term Safety and Tolerability of Cariprazine in the Treatment of Pediatric Participants With Schizophrenia, Bipolar I Disorder, or Autism Spectrum Disorder |
| NCT04623398 | PHASE3 | COMPLETED | Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency) |
| NCT04725383 | PHASE3 | TERMINATED | Amitriptyline for Repetitive Behaviors in Autism Spectrum Disorders |
| NCT05212493 | PHASE3 | COMPLETED | The Effects of Medical Cannabis in Children With Autistic Spectrum Disorder |
| NCT05361707 | PHASE3 | UNKNOWN | Evaluating the Effects of Tasimelteon in Individuals With Autism Spectrum Disorder (ASD) and Sleep Disturbances |
| NCT05439616 | PHASE3 | COMPLETED | Study of Cariprazine Oral Capsules or Solution to Assess Adverse Events and Change in Irritability Due to Autism Spectrum Disorder (ASD) in Participants Aged 5-17 Years With ASD |
| NCT06229210 | PHASE3 | RECRUITING | Safety and Tolerability Trial of Lumateperone in Pediatric Patients With Schizophrenia, Bipolar Disorder or Autism Spectrum Disorder |
Related Atlas pages
- Associated diseases: autism spectrum disorder