DIP2C
gene geneOn this page
Summary
DIP2C (DIP2 acetate–CoA ligase C (putative), HGNC:29150) is a protein-coding gene on chromosome 10p15.3, encoding Disco-interacting protein 2 homolog C (Q9Y2E4).
This gene encodes a member of the disco-interacting protein homolog 2 family. The protein shares strong similarity with a Drosophila protein which interacts with the transcription factor disco and is expressed in the nervous system.
Source: NCBI Gene 22982 — RefSeq curated summary.
At a glance
- Gene–disease (curated): complex neurodevelopmental disorder (Definitive, GenCC) — +1 more curated relationship
- GWAS associations: 10
- Clinical variants (ClinVar): 1,100 total — 15 pathogenic, 8 likely-pathogenic
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_014974
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29150 |
| Approved symbol | DIP2C |
| Name | DIP2 acetate–CoA ligase C (putative) |
| Location | 10p15.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000151240 |
| Ensembl biotype | protein_coding |
| OMIM | 611380 |
| Entrez | 22982 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 7 protein_coding
ENST00000280886, ENST00000421992, ENST00000434695, ENST00000634311, ENST00000891378, ENST00000891379, ENST00000931129
RefSeq mRNA: 1 — MANE Select: NM_014974
NM_014974
CCDS: CCDS7054
Canonical transcript exons
ENST00000280886 — 37 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000998466 | 387745 | 387809 |
| ENSE00000998467 | 390264 | 390373 |
| ENSE00000998471 | 390740 | 390863 |
| ENSE00000998472 | 384027 | 384146 |
| ENSE00000998474 | 366275 | 366411 |
| ENSE00000998475 | 389991 | 390093 |
| ENSE00000998476 | 382647 | 382761 |
| ENSE00000998489 | 348641 | 348762 |
| ENSE00001094383 | 327006 | 327176 |
| ENSE00001094397 | 349331 | 349454 |
| ENSE00001094398 | 329433 | 329601 |
| ENSE00001094404 | 356426 | 356506 |
| ENSE00001263841 | 281200 | 281323 |
| ENSE00001263855 | 286273 | 286347 |
| ENSE00001263861 | 288364 | 288421 |
| ENSE00001609877 | 413913 | 414110 |
| ENSE00001633943 | 310031 | 310092 |
| ENSE00001645967 | 341199 | 341329 |
| ENSE00001657039 | 419065 | 419199 |
| ENSE00001657828 | 344809 | 344918 |
| ENSE00001669560 | 422824 | 423033 |
| ENSE00001675153 | 408926 | 409017 |
| ENSE00001710343 | 689494 | 689668 |
| ENSE00001718350 | 344999 | 345110 |
| ENSE00001735549 | 399109 | 399219 |
| ENSE00001771278 | 384546 | 384639 |
| ENSE00001773986 | 283272 | 283446 |
| ENSE00001775446 | 415769 | 415888 |
| ENSE00003483266 | 369494 | 369633 |
| ENSE00003500812 | 486459 | 486530 |
| ENSE00003715003 | 362490 | 362691 |
| ENSE00003716620 | 364374 | 364582 |
| ENSE00003721721 | 440871 | 440996 |
| ENSE00003724665 | 363197 | 363311 |
| ENSE00003734646 | 472439 | 472549 |
| ENSE00003746467 | 357828 | 357937 |
| ENSE00003785622 | 274201 | 277577 |
Expression profiles
Bgee: expression breadth ubiquitous, 293 present calls, max score 95.29.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.6813 / max 150.0786, expressed in 1534 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 107856 | 10.0493 | 1445 |
| 107858 | 0.9528 | 532 |
| 107836 | 0.2094 | 108 |
| 205703 | 0.1732 | 74 |
| 107857 | 0.1613 | 65 |
| 107837 | 0.0771 | 24 |
| 107840 | 0.0356 | 19 |
| 107838 | 0.0148 | 5 |
| 107839 | 0.0078 | 2 |
Top tissues by expression
299 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cartilage tissue | UBERON:0002418 | 95.29 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 95.03 | gold quality |
| paraflocculus | UBERON:0005351 | 94.76 | gold quality |
| tibia | UBERON:0000979 | 94.73 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 94.46 | gold quality |
| saphenous vein | UBERON:0007318 | 94.41 | gold quality |
| quadriceps femoris | UBERON:0001377 | 94.25 | gold quality |
| vastus lateralis | UBERON:0001379 | 94.24 | gold quality |
| endothelial cell | CL:0000115 | 93.91 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 93.79 | gold quality |
| gluteal muscle | UBERON:0002000 | 93.57 | gold quality |
| deltoid | UBERON:0001476 | 93.46 | gold quality |
| nephron tubule | UBERON:0001231 | 93.44 | gold quality |
| frontal pole | UBERON:0002795 | 93.26 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 93.10 | gold quality |
| cerebellar vermis | UBERON:0004720 | 93.10 | gold quality |
| triceps brachii | UBERON:0001509 | 93.07 | gold quality |
| biceps brachii | UBERON:0001507 | 93.04 | gold quality |
| blood vessel layer | UBERON:0004797 | 92.87 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 92.76 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 92.75 | gold quality |
| tibialis anterior | UBERON:0001385 | 92.32 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 92.31 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 92.10 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 92.06 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 91.95 | gold quality |
| heart right ventricle | UBERON:0002080 | 91.74 | gold quality |
| cranial nerve II | UBERON:0000941 | 91.72 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 91.36 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 91.04 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.64 |
| E-ENAD-17 | no | 111.88 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
211 targeting DIP2C, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
Literature-anchored findings (GeneRIF, showing 6)
- This publication discusses the expression pattern and potential function of similar genes in Drosophila and mouse. (PMID:12137943)
- DIP2C gene SNP rs877282 reached genome-wide significant association with plasma uric acid levels (P = 4.56 x 10(-8)). (PMID:23703922)
- Loss of DIP2C triggers substantial DNA methylation and gene expression changes, cellular senescence and epithelial-mesenchymal transition in cancer cells. (PMID:28716088)
- The data revealed DIP2C expression level decreased in breast cancer, especially in basal-like and HER-2 subtypes, and could be a valuable target for diagnosis on specific subtype of breast cancer (PMID:28964575)
- DIP2C polymorphisms are implicated in susceptibility and clinical phenotypes of autism spectrum disorder. (PMID:35987071)
- De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay. (PMID:38421105)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dip2ca | ENSDARG00000062154 |
| mus_musculus | Dip2c | ENSMUSG00000048264 |
| rattus_norvegicus | Dip2c | ENSRNOG00000015288 |
| drosophila_melanogaster | DIP2 | FBGN0024806 |
| caenorhabditis_elegans | dip-2 | WBGENE00017885 |
Paralogs (2): DIP2B (ENSG00000066084), DIP2A (ENSG00000160305)
Protein
Protein identifiers
Disco-interacting protein 2 homolog C — Q9Y2E4 (reviewed: Q9Y2E4)
All UniProt accessions (4): Q9Y2E4, A0A0U1RQW6, H0Y5A8, H0Y7Q3
UniProt curated annotations — full annotation on UniProt →
Similarity. Belongs to the DIP2 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9Y2E4-1 | 1 | yes |
| Q9Y2E4-2 | 2 |
RefSeq proteins (1): NP_055789* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000873 | AMP-dep_synth/lig_dom | Domain |
| IPR010506 | DMAP1-bd | Domain |
| IPR025110 | AMP-bd_C | Domain |
| IPR037337 | Dip2-like_dom | Domain |
| IPR042099 | ANL_N_sf | Homologous_superfamily |
| IPR045851 | AMP-b_sf | Homologous_superfamily |
Pfam: PF00501, PF06464, PF23024
UniProt features (15 total): compositionally biased region 4, splice variant 3, sequence variant 3, region of interest 2, chain 1, domain 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y2E4-F1 | 79.64 | 0.48 |
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): 264
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 179 (showing top):
GCACCTT_MIR18A_MIR18B, AAGCCAT_MIR135A_MIR135B, MORF_FANCG, AACTTT_UNKNOWN, TAATGTG_MIR323, MORF_IKBKG, CTTTGTA_MIR524, MODULE_207, chr10p15, YAGI_AML_WITH_11Q23_REARRANGED, AACATTC_MIR4093P, ATGTACA_MIR493, ATCTTGC_MIR31, MODULE_534, GTATTAT_MIR3693P
GO Biological Process (1): biological_process (GO:0008150)
GO Molecular Function (1): molecular_function (GO:0003674)
GO Cellular Component (1): cellular_component (GO:0005575)
Protein interactions and networks
STRING
2896 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DIP2C | WDR37 | Q9Y2I8 | 604 |
| DIP2C | ZMYND11 | Q15326 | 595 |
| DIP2C | DMAP1 | Q9NPF5 | 578 |
| DIP2C | LARP4B | Q92615 | 546 |
| DIP2C | DIP2C-AS1 | Q8N8Z3 | 526 |
| DIP2C | IDI2 | Q9BXS1 | 464 |
| DIP2C | GNG7 | O60262 | 454 |
| DIP2C | FAM47A | Q5JRC9 | 446 |
| DIP2C | PFKP | Q01813 | 444 |
| DIP2C | DCAF12 | Q5T6F0 | 444 |
| DIP2C | DLEU7 | Q6UYE1 | 443 |
| DIP2C | GASK1B | Q6UWH4 | 438 |
| DIP2C | STK33 | Q9BYT3 | 427 |
| DIP2C | G2E3 | Q7L622 | 425 |
| DIP2C | ANKS1B | Q7Z6G8 | 417 |
IntAct
9 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PIP4K2A | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| PCBD1 | DIP2C | psi-mi:“MI:0915”(physical association) | 0.370 |
| ATG16L1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| ATG16L1 | psi-mi:“MI:0914”(association) | 0.350 | |
| PIP4K2C | AP3B1 | psi-mi:“MI:0914”(association) | 0.350 |
| KCNE3 | PIK3R2 | psi-mi:“MI:0914”(association) | 0.350 |
| KCNE3 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (11): DIP2C (Affinity Capture-MS), DIP2C (Affinity Capture-RNA), DIP2C (Affinity Capture-RNA), DIP2C (Affinity Capture-MS), DIP2C (Affinity Capture-MS), DIP2C (Affinity Capture-MS), DIP2C (Affinity Capture-MS), DIP2C (Affinity Capture-RNA), DIP2C (Affinity Capture-MS), DIP2C (Affinity Capture-RNA), DIP2C (Two-hybrid)
ESM2 similar proteins: A0P9L2, A4D1P6, A9JTG5, B2RYI0, B8JKF4, D4A7V9, F1LW30, O08721, O08722, O14976, P0CI65, P57075, P97874, Q08AV8, Q14689, Q17QN2, Q17RB8, Q1L5Z9, Q1LXR6, Q1LXZ7, Q2HJE1, Q2I6J0, Q32PH0, Q3U0M1, Q3UH60, Q501X6, Q568P9, Q5R6T6, Q5RAR6, Q5RB40, Q5ZLL7, Q6DE55, Q6TEN6, Q6UXZ4, Q6ZN44, Q6ZPG2, Q7T2Z5, Q7TMQ7, Q8BWT5, Q8IZJ1
Diamond homologs: Q14689, Q3UH60, Q6NVJ5, Q8BWT5, Q9P265, Q9W0S9, Q9Y2E4, Q69ZN6
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
1100 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 15 |
| Likely pathogenic | 8 |
| Uncertain significance | 437 |
| Likely benign | 517 |
| Benign | 74 |
Top pathogenic / likely-pathogenic (23)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2120391 | NM_014974.3(DIP2C):c.3323_3341dup (p.Asp1115fs) | Pathogenic |
| 222072 | NC_000010.10:g.(?116476)(450983_?)del | Pathogenic |
| 2862727 | NM_014974.3(DIP2C):c.2397_2398dup (p.Ser800fs) | Pathogenic |
| 3652490 | NM_014974.3(DIP2C):c.2875C>T (p.Gln959Ter) | Pathogenic |
| 3677218 | NM_014974.3(DIP2C):c.1834_1835del (p.Ser612fs) | Pathogenic |
| 4011773 | NM_014974.3(DIP2C):c.2590C>T (p.Gln864Ter) | Pathogenic |
| 4011774 | NM_014974.3(DIP2C):c.2310C>A (p.Tyr770Ter) | Pathogenic |
| 4071587 | NM_014974.3(DIP2C):c.1146_1147dup (p.Arg383fs) | Pathogenic |
| 4082560 | NM_014974.3(DIP2C):c.2208_2209del (p.Ala737fs) | Pathogenic |
| 4240675 | NM_014974.3(DIP2C):c.238dup (p.Ser80fs) | Pathogenic |
| 4240676 | NM_014974.3(DIP2C):c.4153del (p.Tyr1385fs) | Pathogenic |
| 4686180 | NM_014974.3(DIP2C):c.247C>T (p.Arg83Ter) | Pathogenic |
| 563772 | GRCh37/hg19 10p15.3(chr10:116045-1573221)x1 | Pathogenic |
| 688593 | GRCh37/hg19 10p15.3(chr10:100026-692028)x1 | Pathogenic |
| 815308 | GRCh37/hg19 10p15.3(chr10:100026-820189)x1 | Pathogenic |
| 1465565 | NM_014974.3(DIP2C):c.3110-2A>G | Likely pathogenic |
| 148280 | GRCh38/hg38 10p15.3(chr10:70478-312686)x1 | Likely pathogenic |
| 150117 | GRCh38/hg38 10p15.3(chr10:70478-770688)x1 | Likely pathogenic |
| 150324 | GRCh38/hg38 10p15.3(chr10:70478-1042794)x1 | Likely pathogenic |
| 3502059 | NM_014974.3(DIP2C):c.4399del (p.His1467fs) | Likely pathogenic |
| 3900347 | NM_014974.3(DIP2C):c.3453+5G>C | Likely pathogenic |
| 4279917 | NM_014974.3(DIP2C):c.1756+1dup | Likely pathogenic |
| 4280662 | NM_014974.3(DIP2C):c.1167del (p.Asn390fs) | Likely pathogenic |
SpliceAI
13307 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:277573:CAGCA:C | acceptor_gain | 1.0000 |
| 10:277574:AGCA:A | acceptor_gain | 1.0000 |
| 10:277575:GCA:G | acceptor_gain | 1.0000 |
| 10:277575:GCACT:G | acceptor_loss | 1.0000 |
| 10:277576:CA:C | acceptor_gain | 1.0000 |
| 10:277576:CAC:C | acceptor_gain | 1.0000 |
| 10:277577:AC:A | acceptor_loss | 1.0000 |
| 10:277578:C:CC | acceptor_gain | 1.0000 |
| 10:277578:CT:C | acceptor_loss | 1.0000 |
| 10:288359:CTTA:C | donor_loss | 1.0000 |
| 10:288361:TA:T | donor_loss | 1.0000 |
| 10:288363:C:CA | donor_loss | 1.0000 |
| 10:288363:CCTTT:C | donor_gain | 1.0000 |
| 10:288420:CT:C | acceptor_gain | 1.0000 |
| 10:327464:T:TA | donor_gain | 1.0000 |
| 10:329427:GCTTA:G | donor_loss | 1.0000 |
| 10:329428:CTTAC:C | donor_loss | 1.0000 |
| 10:329429:TTACC:T | donor_loss | 1.0000 |
| 10:329430:TACC:T | donor_loss | 1.0000 |
| 10:329431:A:AC | donor_gain | 1.0000 |
| 10:329431:A:AT | donor_loss | 1.0000 |
| 10:329432:C:CC | donor_gain | 1.0000 |
| 10:329432:C:CT | donor_loss | 1.0000 |
| 10:329598:CACA:C | acceptor_gain | 1.0000 |
| 10:329600:CA:C | acceptor_gain | 1.0000 |
| 10:329602:C:CC | acceptor_gain | 1.0000 |
| 10:341193:TCTTA:T | donor_loss | 1.0000 |
| 10:341194:CTTA:C | donor_loss | 1.0000 |
| 10:341195:TTA:T | donor_loss | 1.0000 |
| 10:341196:TA:T | donor_loss | 1.0000 |
AlphaMissense
10084 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:277370:A:C | F1542L | 1.000 |
| 10:277370:A:T | F1542L | 1.000 |
| 10:277371:A:G | F1542S | 1.000 |
| 10:277372:A:G | F1542L | 1.000 |
| 10:277383:A:G | L1538P | 1.000 |
| 10:277393:G:T | R1535S | 1.000 |
| 10:277394:C:A | Q1534H | 1.000 |
| 10:277394:C:G | Q1534H | 1.000 |
| 10:283310:C:T | G1419E | 1.000 |
| 10:283311:C:A | G1419W | 1.000 |
| 10:283311:C:G | G1419R | 1.000 |
| 10:283311:C:T | G1419R | 1.000 |
| 10:329537:A:G | W1217R | 1.000 |
| 10:329537:A:T | W1217R | 1.000 |
| 10:348702:A:T | V1057D | 1.000 |
| 10:357901:A:T | V944D | 1.000 |
| 10:357904:A:G | L943P | 1.000 |
| 10:357910:C:T | G941E | 1.000 |
| 10:357911:C:A | G941W | 1.000 |
| 10:357911:C:G | G941R | 1.000 |
| 10:357911:C:T | G941R | 1.000 |
| 10:363217:A:G | W858R | 1.000 |
| 10:363217:A:T | W858R | 1.000 |
| 10:364410:A:G | L814P | 1.000 |
| 10:364419:G:T | A811D | 1.000 |
| 10:364515:C:T | G779E | 1.000 |
| 10:382736:A:C | F634L | 1.000 |
| 10:382736:A:T | F634L | 1.000 |
| 10:382737:A:G | F634S | 1.000 |
| 10:382738:A:G | F634L | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000010531 (10:616108 G>T), RS1000011425 (10:428198 T>C), RS1000012623 (10:359901 G>A), RS1000021505 (10:373559 T>TA), RS1000039427 (10:625213 A>G), RS1000047523 (10:518793 C>G), RS1000048212 (10:400356 G>A,C), RS1000051781 (10:461151 A>G), RS1000052191 (10:626190 C>G,T), RS1000053299 (10:599083 C>G,T), RS1000054258 (10:370859 A>G,T), RS1000070042 (10:665488 C>T), RS1000079402 (10:619551 C>A,T), RS1000081395 (10:503368 A>C,T), RS1000084433 (10:511771 C>T)
Disease associations
OMIM: gene MIM:611380 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| complex neurodevelopmental disorder | Definitive | Autosomal dominant |
| neurodevelopmental disorder | Strong | Autosomal dominant |
Mondo (3): neurodevelopmental disorder (MONDO:0700092), obesity disorder (MONDO:0011122), complex neurodevelopmental disorder (MONDO:0100038)
Orphanet (2): Obesity due to melanocortin 4 receptor deficiency (Orphanet:71529), NON RARE IN EUROPE: Non rare obesity (Orphanet:521399)
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0001513 | Obesity |
GWAS associations
10 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001282_5 | Psychosis in Alzheimer’s disease | 8.000000e-06 |
| GCST001538_27 | Immune reponse to smallpox (secreted IFN-alpha) | 1.000000e-07 |
| GCST001801_4 | Uric acid levels | 5.000000e-08 |
| GCST007576_240 | Chronotype | 2.000000e-10 |
| GCST009209_9 | Frontal pole volume | 9.000000e-07 |
| GCST009218_25 | Lateral ventricle temporal horn volume | 6.000000e-06 |
| GCST010151_18 | Carotid intima media thickness x smoking interaction | 8.000000e-07 |
| GCST010396_315 | Gut microbiota (bacterial taxa, hurdle binary method) | 6.000000e-06 |
| GCST010725_32 | Malaria | 2.000000e-07 |
| GCST010725_99 | Malaria | 8.000000e-08 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005940 | psychotic symptoms |
| EFO:0004645 | response to vaccine |
| EFO:0004873 | cytokine measurement |
| EFO:0004761 | uric acid measurement |
| EFO:0008328 | chronotype measurement |
| EFO:0006527 | smoking status measurement |
| EFO:0007874 | gut microbiome measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D065886 | Neurodevelopmental Disorders | F03.625 |
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 | decreases expression | 4 |
| sodium arsenite | affects methylation, decreases expression, increases expression | 3 |
| Valproic Acid | decreases expression, increases expression, increases methylation | 3 |
| bisphenol A | affects cotreatment, decreases methylation, affects methylation | 2 |
| Smoke | decreases expression, increases expression | 2 |
| Aflatoxin B1 | affects expression, increases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| bisphenol F | affects cotreatment, affects methylation | 1 |
| methyleugenol | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| titanium dioxide | increases expression | 1 |
| trichostatin A | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| potassium chromate(VI) | increases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, decreases expression | 1 |
| aflatoxin B2 | affects methylation | 1 |
| beta-methylcholine | affects expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| bisphenol S | increases methylation | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Decitabine | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects cotreatment, affects methylation | 1 |
| Vorinostat | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
Clinical trials (associated diseases)
204 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04586348 | PHASE4 | UNKNOWN | Prenatal Iodine Supplementation and Early Childhood Neurodevelopment |
| NCT04873115 | PHASE4 | UNKNOWN | Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties, |
| NCT02559102 | PHASE3 | COMPLETED | Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants |
| NCT02757079 | PHASE3 | COMPLETED | Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders |
| NCT06915480 | PHASE3 | RECRUITING | Reducing Missed Appointments |
| NCT07377032 | PHASE3 | RECRUITING | TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders |
| NCT02909959 | PHASE2 | COMPLETED | Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder |
| NCT06081348 | PHASE2 | RECRUITING | Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders |
| NCT06352372 | PHASE2 | COMPLETED | Safety and Efficacy of tPBM for Epileptiform Activity in Autism |
| NCT00503191 | PHASE1 | COMPLETED | NeuroModulation Technique Treatment of Autism |
| NCT04475848 | PHASE1 | COMPLETED | A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants |
| NCT06300398 | PHASE1 | COMPLETED | IAMA-6 Oral Dose Study in Healthy Adults |
| NCT06310681 | Not specified | COMPLETED | Pilot Testing of a Co-adapted Group Programme for Parents/Carers of Children With Complex Neurodisability |
| NCT07303049 | Not specified | NOT_YET_RECRUITING | Cognitive Benefit of Intensive Rehabilitation Using Rhythmic Music Training in Children With Complex Neurodevelopmental Disorder |
| NCT01783041 | PHASE2/PHASE3 | COMPLETED | Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants |
| NCT05767385 | PHASE2/PHASE3 | RECRUITING | Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior |
| NCT05675098 | EARLY_PHASE1 | NOT_YET_RECRUITING | Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy |
| NCT00783783 | Not specified | COMPLETED | CYP2D6 Pharmacogenetics in Risperidone-Treated Children |
| NCT01778504 | Not specified | RECRUITING | Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders |
| NCT01850784 | Not specified | UNKNOWN | High Energy Formula Feeding in Infants With Congenital Heart Disease |
| NCT01922791 | Not specified | COMPLETED | Nutrition and Pregnancy Intervention Study |
| NCT01942525 | Not specified | UNKNOWN | Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants |
| NCT02003170 | Not specified | COMPLETED | Etiology and Early Diagnosis of Neurodevelopmental Disorders |
| NCT02118649 | Not specified | ACTIVE_NOT_RECRUITING | Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game |
| NCT02557191 | Not specified | TERMINATED | Biomarkers, Neurodevelopment and Preterm Infants |
| NCT02690675 | Not specified | COMPLETED | Iron Supplement Effect on Child Development |
| NCT02694003 | Not specified | COMPLETED | Better Nights, Better Days for Children With Neurodevelopment Disorders |
| NCT02792894 | Not specified | COMPLETED | Family Networks (FaNs) for Children With Developmental Disorders and Delays |
| NCT02871674 | Not specified | UNKNOWN | Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial |
| NCT02887157 | Not specified | COMPLETED | Analyzing Retinal Microanatomy in ROP |
| NCT02898298 | Not specified | COMPLETED | Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder |
| NCT02912780 | Not specified | UNKNOWN | Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit |
| NCT03023293 | Not specified | COMPLETED | n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum |
| NCT03023644 | Not specified | COMPLETED | Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study |
| NCT03032991 | Not specified | UNKNOWN | Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers |
| NCT03088189 | Not specified | TERMINATED | Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring |
| NCT03096028 | Not specified | COMPLETED | Developmental Origins of Mental Health Disorders |
| NCT03148782 | Not specified | COMPLETED | Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase |
| NCT03172104 | Not specified | COMPLETED | Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age |
| NCT03222375 | Not specified | RECRUITING | SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism |
Related Atlas pages
- Associated diseases: complex neurodevelopmental disorder, neurodevelopmental disorder
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): neurodevelopmental disorder