ZNF185
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Also known as SCELL
Summary
ZNF185 (zinc finger protein 185 with LIM domain, HGNC:12976) is a protein-coding gene on chromosome Xq28, encoding Zinc finger protein 185 (O15231). May be involved in the regulation of cellular proliferation and/or differentiation.
Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This gene encodes a LIM-domain zinc finger protein. The LIM domain is composed of two contiguous zinc finger domains, separated by a two-amino acid residue hydrophobic linker. The LIM domain mediates protein:protein interactions. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.
Source: NCBI Gene 7739 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 182 total
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_001395254
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12976 |
| Approved symbol | ZNF185 |
| Name | zinc finger protein 185 with LIM domain |
| Location | Xq28 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SCELL |
| Ensembl gene | ENSG00000147394 |
| Ensembl biotype | protein_coding |
| OMIM | 300381 |
| Entrez | 7739 |
Gene structure
Transcript identifiers
Ensembl transcripts: 39 — 38 protein_coding, 1 nonsense_mediated_decay
ENST00000318504, ENST00000318529, ENST00000370268, ENST00000426821, ENST00000436731, ENST00000447792, ENST00000449285, ENST00000454925, ENST00000535861, ENST00000539731, ENST00000695776, ENST00000892522, ENST00000892523, ENST00000892524, ENST00000892525, ENST00000892526, ENST00000892527, ENST00000892528, ENST00000892529, ENST00000892530, ENST00000892531, ENST00000892532, ENST00000892533, ENST00000892534, ENST00000892535, ENST00000892536, ENST00000892537, ENST00000892538, ENST00000932058, ENST00000932059, ENST00000932060, ENST00000932061, ENST00000943297, ENST00000943298, ENST00000943299, ENST00000943300, ENST00000943301, ENST00000943302, ENST00000943303
RefSeq mRNA: 10 — MANE Select: NM_001395254
NM_001178106, NM_001178107, NM_001178108, NM_001178109, NM_001178110, NM_001178113, NM_001178115, NM_001388432, NM_001395254, NM_007150
CCDS: CCDS48184, CCDS55528, CCDS55529, CCDS55530, CCDS55531, CCDS55532, CCDS69832, CCDS94691
Canonical transcript exons
ENST00000695776 — 25 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000979843 | 152918983 | 152919081 |
| ENSE00000979844 | 152920328 | 152920411 |
| ENSE00000979846 | 152928575 | 152928661 |
| ENSE00000979848 | 152945267 | 152945464 |
| ENSE00001278090 | 152959699 | 152959896 |
| ENSE00001424921 | 152971274 | 152973474 |
| ENSE00001452219 | 152932873 | 152932971 |
| ENSE00001714202 | 152965447 | 152965527 |
| ENSE00001764057 | 152969382 | 152969484 |
| ENSE00001795887 | 152967167 | 152967238 |
| ENSE00002290368 | 152963839 | 152963949 |
| ENSE00003468784 | 152918065 | 152918154 |
| ENSE00003500701 | 152914445 | 152914523 |
| ENSE00003532039 | 152914710 | 152914833 |
| ENSE00003582356 | 152917131 | 152917169 |
| ENSE00003652978 | 152917285 | 152917362 |
| ENSE00003684290 | 152915138 | 152915203 |
| ENSE00003703717 | 152938074 | 152938163 |
| ENSE00003704263 | 152920707 | 152920748 |
| ENSE00003704770 | 152931672 | 152931776 |
| ENSE00003704782 | 152922173 | 152922256 |
| ENSE00003710917 | 152922720 | 152922809 |
| ENSE00003791139 | 152970443 | 152970541 |
| ENSE00003964997 | 152936418 | 152936513 |
| ENSE00003964999 | 152898067 | 152898238 |
Expression profiles
Bgee: expression breadth ubiquitous, 254 present calls, max score 99.40.
FANTOM5 (CAGE): breadth broad, TPM avg 0.8386 / max 106.7486, expressed in 232 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 198018 | 0.2925 | 139 |
| 198020 | 0.2639 | 121 |
| 198019 | 0.2037 | 111 |
| 198017 | 0.0575 | 8 |
| 198015 | 0.0115 | 1 |
| 198016 | 0.0095 | 2 |
Top tissues by expression
279 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tongue squamous epithelium | UBERON:0006919 | 99.40 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 99.36 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 99.35 | gold quality |
| corpus epididymis | UBERON:0004359 | 99.29 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 98.94 | gold quality |
| squamous epithelium | UBERON:0006914 | 98.79 | gold quality |
| gingiva | UBERON:0001828 | 98.77 | gold quality |
| oral cavity | UBERON:0000167 | 98.65 | gold quality |
| gingival epithelium | UBERON:0001949 | 98.61 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 98.40 | gold quality |
| esophagus mucosa | UBERON:0002469 | 98.37 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 98.37 | gold quality |
| body of tongue | UBERON:0011876 | 98.28 | gold quality |
| seminal vesicle | UBERON:0000998 | 98.21 | gold quality |
| cervix epithelium | UBERON:0004801 | 98.17 | gold quality |
| penis | UBERON:0000989 | 98.09 | gold quality |
| cauda epididymis | UBERON:0004360 | 97.80 | gold quality |
| amniotic fluid | UBERON:0000173 | 96.49 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 95.98 | gold quality |
| hair follicle | UBERON:0002073 | 95.72 | gold quality |
| monocyte | CL:0000576 | 95.58 | gold quality |
| mononuclear cell | CL:0000842 | 95.29 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 95.27 | gold quality |
| mammalian vulva | UBERON:0000997 | 95.25 | gold quality |
| vagina | UBERON:0000996 | 94.96 | gold quality |
| caput epididymis | UBERON:0004358 | 94.81 | gold quality |
| leukocyte | CL:0000738 | 94.78 | gold quality |
| tongue | UBERON:0001723 | 94.64 | gold quality |
| uterine cervix | UBERON:0000002 | 94.37 | gold quality |
| renal glomerulus | UBERON:0000074 | 94.37 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
83 targeting ZNF185, 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-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-4739 | 99.84 | 65.25 | 1832 |
| HSA-MIR-1321 | 99.84 | 65.30 | 1811 |
| HSA-MIR-4756-5P | 99.84 | 64.98 | 1809 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
| HSA-MIR-200A-5P | 99.76 | 69.10 | 949 |
| HSA-MIR-200B-5P | 99.76 | 69.05 | 948 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-7-5P | 99.67 | 70.53 | 1809 |
| HSA-MIR-7150 | 99.62 | 66.80 | 1322 |
| HSA-MIR-6797-5P | 99.61 | 66.55 | 2084 |
| HSA-MIR-6513-3P | 99.59 | 69.77 | 1102 |
| HSA-MIR-891B | 99.59 | 69.81 | 1083 |
| HSA-MIR-182-3P | 99.57 | 67.57 | 825 |
| HSA-MIR-6758-3P | 99.57 | 67.55 | 1078 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
| HSA-MIR-122B-5P | 99.46 | 70.81 | 1457 |
| HSA-MIR-3612 | 99.45 | 66.02 | 1333 |
Literature-anchored findings (GeneRIF, showing 9)
- Transcriptional silencing of ZNF185 by methylation in prostate tumor tissues implicates the ZNF185 gene in prostate tumorigenesis. (PMID:12873976)
- transcriptional activation of ZNF185 and CYP3A4 is mediated by direct association of BRG1 with their promoters and a decreased level of ZNF185 is a common feature of lung tumours (PMID:15731117)
- ZNF185 may function as a tumor-suppressor protein by associating with the actin-cytoskeleton (PMID:16799630)
- ZNF185 expression was significantly downregulated in lung adenocarcinoma tissues compared with the adjacent non-cancerous tissues and negatively correlated with lymphatic metastasis. ZNF185 overexpression inhibits the growth and invasion of LAC cells through inhibition of the AKT/GSK3beta signaling. (PMID:27655485)
- ZNF185 was mainly distributed in the cytoplasm of Leydig cells and Sertoli cells, as well as the head and tail of sperm cells. (PMID:27667456)
- Results provide evidence that ZNF185 is a key component of the p63-dependent transcriptional program for stratified epithelial development and tissue homeostasis. ZNF185 deregulation, beyond deregulating cell adhesion in general, is also relevant for carcinoma formation of the stratified epithelia suggesting that ZNF185 may be a potential biomarker for squamous cell carcinoma diagnosis and prognosis. (PMID:30337687)
- These data highlight the involvement of ZNF185 and cytoskeleton changes in p53-mediated cellular response to genotoxic stress and indicate ZNF185 as potential biomarker for epithelial cancer diagnosis. (PMID:30446632)
- UBE3A activates the NOTCH pathway and promotes esophageal cancer progression by degradation of ZNF185. (PMID:34421347)
- ZNF185 prevents stress fiber formation through the inhibition of RhoA in endothelial cells. (PMID:36631535)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | znf185 | ENSDARG00000103917 |
| mus_musculus | Zfp185 | ENSMUSG00000031351 |
| rattus_norvegicus | Zfp185 | ENSRNOG00000051704 |
Paralogs (1): SCEL (ENSG00000136155)
Protein
Protein identifiers
Zinc finger protein 185 — O15231 (reviewed: O15231)
Alternative names: LIM domain protein ZNF185, P1-A
All UniProt accessions (5): O15231, A0A8Q3WKR1, H0Y704, H7BZT5, H7C1R1
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in the regulation of cellular proliferation and/or differentiation.
Subcellular location. Cytoplasm. Cytoskeleton. Cell junction. Focal adhesion.
Tissue specificity. Expressed in placenta, pancreas and kidney. Also expressed in prostate, testis, ovary and blood.
Isoforms (9)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O15231-1 | 1 | yes |
| O15231-2 | 2 | |
| O15231-3 | 3 | |
| O15231-4 | 4 | |
| O15231-5 | 5 | |
| O15231-6 | 6 | |
| O15231-7 | 7 | |
| O15231-8 | 8 | |
| O15231-9 | 9 |
RefSeq proteins (10): NP_001171577, NP_001171578, NP_001171579, NP_001171580, NP_001171581, NP_001171584, NP_001171586, NP_001375361, NP_001382183, NP_009081 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001781 | Znf_LIM | Domain |
| IPR052621 | Cell_Prolif/Cornif_Regul | Family |
UniProt features (44 total): sequence conflict 13, splice variant 11, compositionally biased region 10, modified residue 6, region of interest 2, chain 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O15231-F1 | 50.92 | 0.01 |
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 (6): 153, 447, 453, 465, 66, 206
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 109 (showing top):
GSE45365_NK_CELL_VS_CD8_TCELL_DN, JAEGER_METASTASIS_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, THEILGAARD_NEUTROPHIL_AT_SKIN_WOUND_DN, MODULE_313, TCF11_01, RUTELLA_RESPONSE_TO_HGF_VS_CSF2RB_AND_IL4_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_UP, BASAKI_YBX1_TARGETS_UP, CUI_TCF21_TARGETS_2_DN, CROMER_TUMORIGENESIS_DN, NUYTTEN_EZH2_TARGETS_DN, GOCC_ANCHORING_JUNCTION, FRASOR_TAMOXIFEN_RESPONSE_UP
GO Biological Process (0):
GO Molecular Function (3): zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (4): cytoskeleton (GO:0005856), focal adhesion (GO:0005925), cytoplasm (GO:0005737), anchoring junction (GO:0070161)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transition metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membraneless organelle | 1 |
| cell-substrate junction | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
794 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF185 | TFF3 | Q07654 | 923 |
| ZNF185 | CYP3A4 | P05184 | 559 |
| ZNF185 | SMARCA4 | P51532 | 535 |
| ZNF185 | IFI27 | P40305 | 519 |
| ZNF185 | CYP3A7 | P24462 | 508 |
| ZNF185 | BMP10 | O95393 | 490 |
| ZNF185 | CYP3A5 | P20815 | 482 |
| ZNF185 | CLEC2D | Q9UHP7 | 476 |
| ZNF185 | TMEM234 | Q8WY98 | 459 |
| ZNF185 | SLC39A9 | Q9NUM3 | 431 |
| ZNF185 | UBFD1 | O14562 | 429 |
| ZNF185 | IFITM1 | P13164 | 424 |
| ZNF185 | DMAC1 | Q96GE9 | 421 |
| ZNF185 | HSPA4 | P34932 | 412 |
| ZNF185 | ACO1 | P21399 | 391 |
IntAct
52 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZNF185 | CEP76 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF185 | PIH1D2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF185 | CBX8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF185 | PRR23B | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF185 | HSF2BP | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF185 | LMO2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF185 | AARSD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EMILIN1 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| ACTBL2 | ZNF185 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PRPF8 | ZNF185 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZNF185 | TRMU | psi-mi:“MI:0915”(physical association) | 0.400 |
| COPS5 | FBLL1 | psi-mi:“MI:0914”(association) | 0.350 |
| CRY1 | IGKV2D-30 | psi-mi:“MI:0914”(association) | 0.350 |
| ENG | IGKV2-28 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ARPC1B | psi-mi:“MI:0914”(association) | 0.350 |
| SRRT | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| STX17 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| OR2A4 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| GOT1 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| PPP2R2B | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| CCR1 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| NRSN1 | IGLC7 | psi-mi:“MI:0914”(association) | 0.350 |
| SSUH2 | IGLC7 | psi-mi:“MI:0914”(association) | 0.350 |
| PIGT | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| C18orf21 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| FNDC5 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| AGPAT1 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| MBNL1 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPL27 | psi-mi:“MI:0914”(association) | 0.350 | |
| KLRG2 | HS3ST1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (71): ZNF185 (Proximity Label-MS), ZNF185 (Affinity Capture-MS), ZNF185 (Affinity Capture-MS), ZNF185 (Affinity Capture-MS), ZNF185 (Proximity Label-MS), ZNF185 (Affinity Capture-RNA), ZNF185 (Two-hybrid), ZNF185 (Two-hybrid), ZNF185 (Two-hybrid), ZNF185 (Two-hybrid), PIH1D2 (Two-hybrid), HSF2BP (Two-hybrid), PRR23B (Two-hybrid), ZNF185 (Affinity Capture-MS), PRPF8 (Proximity Label-MS)
ESM2 similar proteins: A2TJV2, A6QLZ1, O15231, O75363, O75952, P19332, P20810, P24275, P24588, P27123, P27546, P27816, P36225, P49342, P51125, P62025, Q02952, Q16799, Q3T0A6, Q3ZB98, Q4R3X7, Q571C7, Q5FVI4, Q5IS59, Q5M7W5, Q5QD51, Q62394, Q64548, Q6FW26, Q6RJR6, Q710D7, Q7TT18, Q80YN3, Q811Q2, Q8BHB9, Q8C4A5, Q8GUP3, Q8K0T0, Q8N111, Q8TDB4
Diamond homologs: O15231, O95171, Q62394, Q9EQG3, Q3KQW7, Q3UH68, Q9UPQ0, Q8WWI1
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
182 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 92 |
| Likely benign | 14 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3715 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:152914811:G:GT | donor_gain | 1.0000 |
| X:152914834:G:GG | donor_gain | 1.0000 |
| X:152917167:CCGGT:C | donor_loss | 1.0000 |
| X:152917168:CGG:C | donor_loss | 1.0000 |
| X:152917169:GGTA:G | donor_loss | 1.0000 |
| X:152917170:G:GG | donor_gain | 1.0000 |
| X:152917170:GT:G | donor_loss | 1.0000 |
| X:152917171:TAAG:T | donor_loss | 1.0000 |
| X:152917280:TTCA:T | acceptor_loss | 1.0000 |
| X:152917281:TCA:T | acceptor_loss | 1.0000 |
| X:152917282:CAG:C | acceptor_loss | 1.0000 |
| X:152917283:A:AG | acceptor_gain | 1.0000 |
| X:152917283:AG:A | acceptor_gain | 1.0000 |
| X:152917283:AGG:A | acceptor_gain | 1.0000 |
| X:152917283:AGGG:A | acceptor_gain | 1.0000 |
| X:152917284:G:GA | acceptor_gain | 1.0000 |
| X:152917284:GG:G | acceptor_gain | 1.0000 |
| X:152917284:GGG:G | acceptor_gain | 1.0000 |
| X:152917284:GGGG:G | acceptor_gain | 1.0000 |
| X:152917284:GGGGA:G | acceptor_gain | 1.0000 |
| X:152917362:GGTA:G | donor_loss | 1.0000 |
| X:152918063:A:AG | acceptor_gain | 1.0000 |
| X:152918064:G:GA | acceptor_gain | 1.0000 |
| X:152918064:GT:G | acceptor_gain | 1.0000 |
| X:152918119:T:TA | acceptor_gain | 1.0000 |
| X:152919079:G:GT | donor_gain | 1.0000 |
| X:152919079:GAGG:G | donor_loss | 1.0000 |
| X:152919082:G:GA | donor_loss | 1.0000 |
| X:152919083:T:A | donor_loss | 1.0000 |
| X:152920324:CCAG:C | acceptor_loss | 1.0000 |
AlphaMissense
4708 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:152970443:T:C | C658R | 0.998 |
| X:152920328:G:C | R177S | 0.997 |
| X:152920328:G:T | R177S | 0.997 |
| X:152969398:T:C | C629R | 0.997 |
| X:152970512:T:C | C681R | 0.997 |
| X:152970521:T:C | C684R | 0.997 |
| X:152918149:G:C | K142N | 0.996 |
| X:152918149:G:T | K142N | 0.996 |
| X:152920384:T:A | V196D | 0.996 |
| X:152969476:T:C | C655R | 0.996 |
| X:152969478:C:G | C655W | 0.996 |
| X:152970443:T:A | C658S | 0.996 |
| X:152970444:G:C | C658S | 0.996 |
| X:152970452:T:C | C661R | 0.996 |
| X:152970521:T:A | C684S | 0.996 |
| X:152970522:G:C | C684S | 0.996 |
| X:152917166:T:A | I87N | 0.995 |
| X:152919081:G:C | R177T | 0.995 |
| X:152970454:C:G | C661W | 0.995 |
| X:152970488:T:C | F673L | 0.995 |
| X:152970490:C:A | F673L | 0.995 |
| X:152970490:C:G | F673L | 0.995 |
| X:152914796:T:A | W41R | 0.994 |
| X:152914796:T:C | W41R | 0.994 |
| X:152920335:G:C | A180P | 0.994 |
| X:152969398:T:A | C629S | 0.994 |
| X:152969399:G:C | C629S | 0.994 |
| X:152969400:T:G | C629W | 0.994 |
| X:152969464:T:C | C651R | 0.994 |
| X:152969480:T:C | F656S | 0.994 |
dbSNP variants (sampled 300 via entrez): RS1000050510 (X:152903191 C>G), RS1000134787 (X:152914318 C>T), RS1000149020 (X:152957706 T>G), RS1000199078 (X:152905833 A>C), RS1000245867 (X:152958042 G>T), RS1000312687 (X:152898389 G>T), RS1000359135 (X:152948156 T>C), RS1000550079 (X:152940858 T>C), RS1000616878 (X:152935885 A>C), RS1000618204 (X:152966471 G>A), RS1000643650 (X:152941329 T>C), RS1000896525 (X:152948522 C>A), RS1000926081 (X:152972763 C>A), RS1001038796 (X:152973053 G>A), RS1001079248 (X:152920492 G>A)
Disease associations
OMIM: gene MIM:300381 | 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
0 associations (top):
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
52 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases abundance, increases expression | 4 |
| methacrylaldehyde | affects cotreatment, increases expression, increases abundance | 2 |
| Acrolein | affects cotreatment, increases expression, increases abundance | 2 |
| Air Pollutants | increases expression, affects cotreatment, increases abundance | 2 |
| Benzo(a)pyrene | affects methylation, decreases expression, increases methylation | 2 |
| Calcitriol | increases expression | 2 |
| Estradiol | affects expression, increases expression | 2 |
| Ozone | affects cotreatment, increases expression, increases abundance | 2 |
| Tetrachlorodibenzodioxin | increases expression | 2 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| Valproic Acid | affects expression, increases methylation | 2 |
| Particulate Matter | increases abundance, increases expression, affects cotreatment | 2 |
| FR900359 | increases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | increases abundance, affects cotreatment, increases expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| bisphenol A | decreases expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, affects localization, decreases expression, increases expression | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| afimoxifene | increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| coumarin | affects phosphorylation | 1 |
| cupric oxide | decreases expression | 1 |
| ciglitazone | affects binding, increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| isobutyl alcohol | affects cotreatment, increases abundance, 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
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): autism