INO80E
gene geneOn this page
Also known as FLJ90652
Summary
INO80E (INO80 complex subunit E, HGNC:26905) is a protein-coding gene on chromosome 16p11.2, encoding INO80 complex subunit E (Q8NBZ0). Putative regulatory component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair.
Involved in several processes, including chromatin remodeling; regulation of chromosome organization; and regulation of nucleobase-containing compound metabolic process. Located in nucleolus and nucleoplasm. Part of Ino80 complex.
Source: NCBI Gene 283899 — RefSeq curated summary.
At a glance
- GWAS associations: 14
- Clinical variants (ClinVar): 67 total — 2 pathogenic, 2 likely-pathogenic
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_173618
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26905 |
| Approved symbol | INO80E |
| Name | INO80 complex subunit E |
| Location | 16p11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ90652 |
| Ensembl gene | ENSG00000169592 |
| Ensembl biotype | protein_coding |
| Entrez | 283899 |
Gene structure
Transcript identifiers
Ensembl transcripts: 23 — 15 protein_coding, 4 retained_intron, 3 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000304516, ENST00000380503, ENST00000540562, ENST00000562291, ENST00000562441, ENST00000563040, ENST00000563197, ENST00000567065, ENST00000567254, ENST00000567705, ENST00000567987, ENST00000568043, ENST00000569957, ENST00000620599, ENST00000861522, ENST00000861523, ENST00000861524, ENST00000861525, ENST00000861526, ENST00000934710, ENST00000934711, ENST00000934712, ENST00000934713
RefSeq mRNA: 3 — MANE Select: NM_173618
NM_001304562, NM_001304563, NM_173618
CCDS: CCDS10665, CCDS76853
Canonical transcript exons
ENST00000563197 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001179043 | 30001414 | 30001530 |
| ENSE00002624735 | 29996241 | 29996391 |
| ENSE00003476755 | 30000758 | 30000836 |
| ENSE00003483895 | 29996808 | 29996860 |
| ENSE00003562548 | 29996547 | 29996617 |
| ENSE00003609014 | 30005221 | 30005791 |
| ENSE00003673648 | 30000929 | 30001040 |
Expression profiles
Bgee: expression breadth ubiquitous, 241 present calls, max score 96.81.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 42.0661 / max 287.1401, expressed in 1820 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 153579 | 35.0327 | 1819 |
| 153580 | 3.6677 | 1467 |
| 153575 | 1.3373 | 380 |
| 153577 | 1.1106 | 599 |
| 153581 | 0.5634 | 255 |
| 153576 | 0.2860 | 129 |
| 153578 | 0.0685 | 28 |
Top tissues by expression
255 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 96.81 | gold quality |
| right testis | UBERON:0004534 | 96.66 | gold quality |
| left testis | UBERON:0004533 | 96.63 | gold quality |
| right uterine tube | UBERON:0001302 | 95.86 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 95.73 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 95.60 | gold quality |
| endocervix | UBERON:0000458 | 95.42 | gold quality |
| body of uterus | UBERON:0009853 | 95.37 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 95.34 | gold quality |
| lower esophagus | UBERON:0013473 | 95.33 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 95.28 | gold quality |
| right coronary artery | UBERON:0001625 | 95.16 | gold quality |
| left uterine tube | UBERON:0001303 | 95.11 | gold quality |
| ascending aorta | UBERON:0001496 | 95.07 | gold quality |
| thoracic aorta | UBERON:0001515 | 95.05 | gold quality |
| body of stomach | UBERON:0001161 | 95.03 | gold quality |
| aorta | UBERON:0000947 | 94.90 | gold quality |
| right adrenal gland | UBERON:0001233 | 94.90 | gold quality |
| popliteal artery | UBERON:0002250 | 94.88 | gold quality |
| tibial artery | UBERON:0007610 | 94.88 | gold quality |
| transverse colon | UBERON:0001157 | 94.84 | gold quality |
| metanephros cortex | UBERON:0010533 | 94.84 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 94.82 | gold quality |
| rectum | UBERON:0001052 | 94.77 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 94.73 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 94.72 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 94.69 | gold quality |
| left coronary artery | UBERON:0001626 | 94.68 | gold quality |
| adenohypophysis | UBERON:0002196 | 94.66 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 94.63 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.16 |
| E-GEOD-106540 | no | 97.02 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
14 targeting INO80E, 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-4697-3P | 99.89 | 67.09 | 1123 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-374C-5P | 99.80 | 72.06 | 2910 |
| HSA-MIR-655-3P | 99.80 | 72.19 | 2909 |
| HSA-MIR-4666B | 99.64 | 68.69 | 1282 |
| HSA-MIR-18A-3P | 99.56 | 65.68 | 1092 |
| HSA-MIR-6832-3P | 99.52 | 70.44 | 1726 |
| HSA-MIR-5693 | 99.24 | 66.67 | 1106 |
| HSA-MIR-9851-5P | 97.57 | 67.49 | 1067 |
| HSA-MIR-6779-3P | 97.51 | 65.82 | 789 |
| HSA-MIR-938 | 97.41 | 68.28 | 656 |
| HSA-MIR-592 | 96.59 | 67.59 | 817 |
| HSA-MIR-541-3P | 96.07 | 66.11 | 1271 |
| HSA-MIR-654-5P | 96.07 | 66.18 | 1280 |
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ino80e | ENSDARG00000022939 |
| mus_musculus | Ino80e | ENSMUSG00000030689 |
| rattus_norvegicus | Ino80e | ENSRNOG00000019960 |
| drosophila_melanogaster | CG18004 | FBGN0033566 |
Protein
Protein identifiers
INO80 complex subunit E — Q8NBZ0 (reviewed: Q8NBZ0)
Alternative names: Coiled-coil domain-containing protein 95
All UniProt accessions (6): Q8NBZ0, H3BNM4, I3L0W8, I3L270, I3NI13, J3KNE2
UniProt curated annotations — full annotation on UniProt →
Function. Putative regulatory component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair.
Subunit / interactions. Component of the chromatin remodeling INO80 complex; specifically part of a complex module associated with the N-terminus of INO80.
Subcellular location. Nucleus.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8NBZ0-1 | 1 | yes |
| Q8NBZ0-2 | 2 |
RefSeq proteins (3): NP_001291491, NP_001291492, NP_775889* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026678 | INO80E | Family |
| IPR056515 | INO80E_N | Domain |
Pfam: PF24237
UniProt features (9 total): compositionally biased region 3, cross-link 2, chain 1, region of interest 1, coiled-coil region 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NBZ0-F1 | 67.70 | 0.25 |
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 (2): 159, 171
Function
Pathways and Gene Ontology
Reactome pathways
8 pathways
| ID | Pathway |
|---|---|
| R-HSA-5689603 | UCH proteinases |
| R-HSA-5696394 | DNA Damage Recognition in GG-NER |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-5688426 | Deubiquitination |
| R-HSA-5696398 | Nucleotide Excision Repair |
| R-HSA-5696399 | Global Genome Nucleotide Excision Repair (GG-NER) |
| R-HSA-597592 | Post-translational protein modification |
| R-HSA-73894 | DNA Repair |
MSigDB gene sets: 125 (showing top):
GOBP_CHROMOSOME_ORGANIZATION, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_TELOMERE_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GGAMTNNNNNTCCY_UNKNOWN, GOBP_REGULATION_OF_DNA_REPAIR, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, GOBP_REGULATION_OF_TELOMERE_MAINTENANCE, chr16p11, GOBP_REGULATION_OF_CELL_CYCLE, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_DNA_STRAND_ELONGATION, GOBP_DNA_DAMAGE_RESPONSE, GOBP_POSITIVE_REGULATION_OF_DNA_REPAIR
GO Biological Process (14): telomere maintenance (GO:0000723), regulation of DNA replication (GO:0006275), DNA repair (GO:0006281), regulation of DNA repair (GO:0006282), DNA recombination (GO:0006310), chromatin remodeling (GO:0006338), regulation of chromosome organization (GO:0033044), positive regulation of DNA repair (GO:0045739), positive regulation of DNA-templated transcription (GO:0045893), regulation of embryonic development (GO:0045995), regulation of cell cycle (GO:0051726), regulation of DNA strand elongation (GO:0060382), positive regulation of telomere maintenance in response to DNA damage (GO:1904507), DNA damage response (GO:0006974)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (4): nucleoplasm (GO:0005654), nucleolus (GO:0005730), Ino80 complex (GO:0031011), nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-6 pathways:
| Category | Pathways |
|---|---|
| Deubiquitination | 1 |
| Global Genome Nucleotide Excision Repair (GG-NER) | 1 |
| Post-translational protein modification | 1 |
| DNA Repair | 1 |
| Nucleotide Excision Repair | 1 |
| Metabolism of proteins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| DNA metabolic process | 3 |
| regulation of DNA metabolic process | 3 |
| DNA repair | 2 |
| positive regulation of response to stimulus | 2 |
| nuclear lumen | 2 |
| telomere organization | 1 |
| DNA replication | 1 |
| DNA damage response | 1 |
| regulation of cellular response to stress | 1 |
| chromatin organization | 1 |
| regulation of organelle organization | 1 |
| chromosome organization | 1 |
| regulation of DNA repair | 1 |
| positive regulation of DNA metabolic process | 1 |
| DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| embryo development | 1 |
| regulation of multicellular organismal development | 1 |
| cell cycle | 1 |
| regulation of cellular process | 1 |
| DNA strand elongation | 1 |
| positive regulation of telomere maintenance | 1 |
| telomere maintenance in response to DNA damage | 1 |
| regulation of telomere maintenance in response to DNA damage | 1 |
| cellular response to stress | 1 |
| binding | 1 |
| cellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| nuclear chromosome | 1 |
| INO80-type complex | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1898 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| INO80E | TFPT | P0C1Z6 | 783 |
| INO80E | INO80D | Q53TQ3 | 754 |
| INO80E | TMEM219 | Q86XT9 | 668 |
| INO80E | ASPHD1 | Q5U4P2 | 667 |
| INO80E | PAGR1 | Q9BTK6 | 665 |
| INO80E | TAOK2 | Q9UL54 | 647 |
| INO80E | HIRIP3 | Q9BW71 | 627 |
| INO80E | YPEL3 | P61236 | 604 |
| INO80E | C16orf54 | Q6UWD8 | 596 |
| INO80E | KCTD13 | Q8WZ19 | 585 |
| INO80E | SEZ6L2 | Q6UXD5 | 583 |
| INO80E | DOC2A | Q14183 | 577 |
| INO80E | FIMP1 | Q96LL3 | 571 |
| INO80E | NFRKB | Q6P4R8 | 554 |
| INO80E | INO80C | Q6PI98 | 545 |
| INO80E | K7ENP7 | K7ENP7 | 545 |
IntAct
125 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| INO80E | YY1 | psi-mi:“MI:0914”(association) | 0.900 |
| INO80E | MCRS1 | psi-mi:“MI:0915”(physical association) | 0.880 |
| RUVBL1 | ZNHIT1 | psi-mi:“MI:0914”(association) | 0.860 |
| UCHL5 | PSMD11 | psi-mi:“MI:0914”(association) | 0.840 |
| YY1 | ACTL6A | psi-mi:“MI:0914”(association) | 0.830 |
| INO80E | UCHL5 | psi-mi:“MI:0915”(physical association) | 0.820 |
| RUVBL2 | ZNHIT1 | psi-mi:“MI:0914”(association) | 0.810 |
| INO80E | INO80B | psi-mi:“MI:0914”(association) | 0.790 |
| INO80E | TFPT | psi-mi:“MI:0914”(association) | 0.790 |
| YY1 | TFPT | psi-mi:“MI:0914”(association) | 0.740 |
| INO80E | SDCBP | psi-mi:“MI:0915”(physical association) | 0.720 |
| GEM | INO80E | psi-mi:“MI:0915”(physical association) | 0.720 |
| SDCBP | INO80E | psi-mi:“MI:0915”(physical association) | 0.720 |
| INO80E | GEM | psi-mi:“MI:0915”(physical association) | 0.720 |
| RUVBL2 | POLR3A | psi-mi:“MI:0914”(association) | 0.640 |
| RUVBL1 | POLR3A | psi-mi:“MI:0914”(association) | 0.640 |
| INO80E | ACTL6A | psi-mi:“MI:0914”(association) | 0.640 |
| BCL7A | ARID1A | psi-mi:“MI:0914”(association) | 0.640 |
| LRRC46 | TFPT | psi-mi:“MI:0914”(association) | 0.640 |
BioGRID (154): INO80E (Two-hybrid), INO80E (Two-hybrid), INO80E (Two-hybrid), INO80E (Two-hybrid), INO80E (Two-hybrid), INO80E (Two-hybrid), INO80E (Two-hybrid), INO80E (Two-hybrid), INO80E (Two-hybrid), INO80E (Affinity Capture-MS), INO80E (Affinity Capture-MS), INO80E (Affinity Capture-MS), ACTR5 (Co-fractionation), INO80 (Co-fractionation), INO80E (Co-fractionation)
ESM2 similar proteins: A5D962, A6NKL6, A7UKY7, E9Q1P8, O15209, O35615, O75081, O95936, P0C7U0, P35568, P39881, P56270, P56671, P70298, P81122, Q15742, Q29RS4, Q5NBY9, Q5R3F8, Q5TC79, Q5TJE2, Q61127, Q62985, Q68FM6, Q6AY75, Q6AYH2, Q6NS60, Q7Z5L9, Q86UZ6, Q8BID6, Q8BSN5, Q8BZ97, Q8CDC7, Q8IX07, Q8NBZ0, Q8TF61, Q91ZM2, Q96C00, Q96JB3, Q99NA2
Diamond homologs: Q29RS4, Q6AYH2, Q8NBZ0
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| INO80E | “form complex” | “INO80 complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 70 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 |
|---|---|---|---|
| Global Genome Nucleotide Excision Repair (GG-NER) | 8 | 81.2× | 4e-12 |
| Formation of the canonical BAF (cBAF) complex | 5 | 70.5× | 4e-07 |
| DNA Damage Recognition in GG-NER | 9 | 57.1× | 4e-12 |
| Nucleotide Excision Repair | 8 | 50.8× | 2e-10 |
| Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF) | 5 | 50.8× | 2e-06 |
| UCH proteinases | 13 | 35.9× | 6e-15 |
| Regulation of MITF-M-dependent genes involved in pigmentation | 5 | 29.5× | 3e-05 |
| Deubiquitination | 10 | 27.6× | 2e-10 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of telomere maintenance in response to DNA damage | 11 | 202.6× | 4e-22 |
| regulation of DNA strand elongation | 11 | 189.9× | 6e-22 |
| regulation of chromosome organization | 11 | 168.8× | 3e-21 |
| regulation of DNA replication | 12 | 72.1× | 7e-18 |
| positive regulation of DNA repair | 12 | 70.5× | 7e-18 |
| regulation of embryonic development | 11 | 59.6× | 2e-15 |
| DNA recombination | 10 | 55.2× | 8e-14 |
| regulation of G0 to G1 transition | 5 | 55.2× | 9e-07 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
67 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 2 |
| Uncertain significance | 53 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (4)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1706497 | GRCh37/hg19 16p11.2(chr16:29432212-30177807)x1 | Pathogenic |
| 523254 | GRCh37/hg19 16p11.2(chr16:29592783-30190568) | Pathogenic |
| 145958 | GRCh38/hg38 16p11.2(chr16:29609368-30179188)x3 | Likely pathogenic |
| 223112 | NC_000016.10:g.(?29685652)(30180586_?)dup | Likely pathogenic |
SpliceAI
1709 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:29996392:G:GG | donor_gain | 1.0000 |
| 16:29996806:A:AG | acceptor_gain | 1.0000 |
| 16:29996807:G:GG | acceptor_gain | 1.0000 |
| 16:30000756:A:AG | acceptor_gain | 1.0000 |
| 16:30000757:G:GG | acceptor_gain | 1.0000 |
| 16:30000834:GAG:G | donor_gain | 1.0000 |
| 16:29996387:TCTAC:T | donor_gain | 0.9900 |
| 16:29996807:GTTTC:G | acceptor_gain | 0.9900 |
| 16:30000753:CACA:C | acceptor_loss | 0.9900 |
| 16:30000754:ACAG:A | acceptor_loss | 0.9900 |
| 16:30000756:A:C | acceptor_loss | 0.9900 |
| 16:30000757:G:GA | acceptor_loss | 0.9900 |
| 16:30000757:GA:G | acceptor_gain | 0.9900 |
| 16:30000757:GACTC:G | acceptor_gain | 0.9900 |
| 16:30000833:AGAGG:A | donor_loss | 0.9900 |
| 16:30000834:GAGG:G | donor_loss | 0.9900 |
| 16:30000836:GGTGA:G | donor_loss | 0.9900 |
| 16:30000837:G:GG | donor_gain | 0.9900 |
| 16:30000837:GTGAG:G | donor_loss | 0.9900 |
| 16:30000838:T:A | donor_loss | 0.9900 |
| 16:30000923:CTCCA:C | acceptor_loss | 0.9900 |
| 16:30000924:TCCA:T | acceptor_loss | 0.9900 |
| 16:30000926:CA:C | acceptor_loss | 0.9900 |
| 16:30000927:AGG:A | acceptor_loss | 0.9900 |
| 16:30000928:G:T | acceptor_loss | 0.9900 |
| 16:30000928:GGAA:G | acceptor_gain | 0.9900 |
| 16:30001036:GCTCG:G | donor_gain | 0.9900 |
| 16:29996388:CTACG:C | donor_loss | 0.9800 |
| 16:29996389:TAC:T | donor_gain | 0.9800 |
| 16:29996390:ACGT:A | donor_loss | 0.9800 |
AlphaMissense
1553 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:29996363:T:C | L18P | 1.000 |
| 16:29996367:G:C | K19N | 1.000 |
| 16:29996367:G:T | K19N | 1.000 |
| 16:29996375:T:C | L22P | 1.000 |
| 16:29996384:T:C | L25P | 1.000 |
| 16:29996572:T:C | L36P | 1.000 |
| 16:29996596:T:C | L44P | 1.000 |
| 16:29996809:T:C | F52L | 1.000 |
| 16:29996811:C:A | F52L | 1.000 |
| 16:29996811:C:G | F52L | 1.000 |
| 16:29996813:T:C | L53P | 1.000 |
| 16:29996816:T:C | L54P | 1.000 |
| 16:29996822:G:C | R56P | 1.000 |
| 16:29996825:T:C | L57P | 1.000 |
| 16:29996365:A:G | K19E | 0.999 |
| 16:29996369:G:C | R20P | 0.999 |
| 16:29996549:G:C | E28D | 0.999 |
| 16:29996549:G:T | E28D | 0.999 |
| 16:29996559:T:C | F32L | 0.999 |
| 16:29996560:T:C | F32S | 0.999 |
| 16:29996561:C:A | F32L | 0.999 |
| 16:29996561:C:G | F32L | 0.999 |
| 16:29996580:G:C | A39P | 0.999 |
| 16:29996608:G:C | R48P | 0.999 |
| 16:29996610:G:C | D49H | 0.999 |
| 16:29996611:A:C | D49A | 0.999 |
| 16:29996611:A:T | D49V | 0.999 |
| 16:29996613:A:G | K50E | 0.999 |
| 16:29996615:G:C | K50N | 0.999 |
| 16:29996615:G:T | K50N | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000336416 (16:30000640 C>T), RS1000638423 (16:29994476 A>G), RS1000680812 (16:29998616 A>G), RS1000793929 (16:30000404 T>C), RS1001178089 (16:29998747 C>T), RS1001278787 (16:29998006 A>G), RS1001378835 (16:30005553 C>A,T), RS1001508254 (16:30001116 G>A,T), RS1001604345 (16:30006051 C>T), RS1001640977 (16:29995506 G>A), RS1001981804 (16:30000691 G>A), RS1002350360 (16:30004742 G>C,T), RS1002415848 (16:30004292 C>T), RS1002688696 (16:29999139 C>T), RS1003013538 (16:29998842 G>A)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (2): autism spectrum disorder (MONDO:0005258), obesity disorder (MONDO:0011122)
Orphanet (3): Obesity due to melanocortin 4 receptor deficiency (Orphanet:71529), NON RARE IN EUROPE: Autism (Orphanet:106), 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
14 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002539_82 | Schizophrenia | 5.000000e-11 |
| GCST002783_135 | Body mass index | 2.000000e-06 |
| GCST002783_320 | Body mass index | 2.000000e-06 |
| GCST004495_20 | BMI (adjusted for smoking behaviour) | 2.000000e-09 |
| GCST004495_21 | BMI (adjusted for smoking behaviour) | 6.000000e-06 |
| GCST004497_117 | Body mass index (joint analysis main effects and smoking interaction) | 3.000000e-08 |
| GCST004499_21 | BMI in non-smokers | 3.000000e-07 |
| GCST004521_236 | Autism spectrum disorder or schizophrenia | 4.000000e-10 |
| GCST004946_142 | Schizophrenia | 8.000000e-13 |
| GCST006803_23 | Schizophrenia | 6.000000e-13 |
| GCST007293_15 | Body fat distribution (arm fat ratio) | 6.000000e-06 |
| GCST007293_81 | Body fat distribution (arm fat ratio) | 4.000000e-08 |
| GCST007611_22 | Chronic obstructive pulmonary disease or high blood pressure (pleiotropy) | 7.000000e-09 |
| GCST010703_269 | Brain morphology (MOSTest) | 4.000000e-13 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0004318 | smoking behavior |
| EFO:0004341 | body fat distribution |
| EFO:0004346 | neuroimaging measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| (+)-JQ1 compound | decreases expression | 3 |
| Particulate Matter | increases abundance, increases expression, affects cotreatment | 2 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol A | decreases expression | 1 |
| lead acetate | increases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| coumarin | decreases phosphorylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| perfluorohexanesulfonic acid | decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
| jinfukang | increases expression | 1 |
| 3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol | decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Ethanol | affects cotreatment, increases abundance, increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Coumestrol | increases expression, affects cotreatment | 1 |
| Gasoline | affects cotreatment, increases abundance, increases expression | 1 |
| Hydralazine | increases expression, affects cotreatment | 1 |
| Polycyclic Aromatic Hydrocarbons | affects cotreatment, increases abundance, increases expression | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Valproic Acid | affects cotreatment, increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Copper Sulfate | decreases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_SS61 | HAP1 INO80E (-) 1 | Cancer cell line | Male |
| CVCL_SS62 | HAP1 INO80E (-) 2 | Cancer cell line | Male |
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
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.