INO80D
geneOn this page
Also known as FLJ20309
Summary
INO80D (INO80 complex subunit D, HGNC:25997) is a protein-coding gene on chromosome 2q33.3, encoding INO80 complex subunit D (Q53TQ3). 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. Part of Ino80 complex.
Source: NCBI Gene 54891 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 135 total
- MANE Select transcript:
NM_017759
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25997 |
| Approved symbol | INO80D |
| Name | INO80 complex subunit D |
| Location | 2q33.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ20309 |
| Ensembl gene | ENSG00000114933 |
| Ensembl biotype | protein_coding |
| OMIM | 619207 |
| Entrez | 54891 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 6 protein_coding
ENST00000403263, ENST00000414320, ENST00000424117, ENST00000855655, ENST00000855656, ENST00000855657
RefSeq mRNA: 1 — MANE Select: NM_017759
NM_017759
CCDS: CCDS46500
Canonical transcript exons
ENST00000403263 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000784941 | 206019736 | 206019845 |
| ENSE00000784942 | 206028111 | 206028335 |
| ENSE00000784944 | 206046504 | 206046612 |
| ENSE00001129652 | 206007284 | 206007441 |
| ENSE00001129658 | 206009577 | 206009794 |
| ENSE00001172222 | 206017680 | 206017813 |
| ENSE00001234836 | 206063151 | 206063244 |
| ENSE00001234843 | 206085901 | 206086174 |
| ENSE00001557750 | 205993721 | 206005533 |
| ENSE00001621693 | 206062799 | 206063045 |
| ENSE00003578946 | 206056198 | 206056943 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 85.74.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.4572 / max 60.8505, expressed in 1676 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 33346 | 4.2189 | 1366 |
| 33343 | 1.2709 | 836 |
| 33347 | 1.0434 | 586 |
| 33344 | 0.5478 | 313 |
| 33345 | 0.3551 | 168 |
| 33340 | 0.0120 | 4 |
| 33339 | 0.0090 | 2 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| bone marrow cell | CL:0002092 | 85.74 | gold quality |
| bone marrow | UBERON:0002371 | 85.25 | gold quality |
| sural nerve | UBERON:0015488 | 85.04 | gold quality |
| calcaneal tendon | UBERON:0003701 | 82.53 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 82.35 | gold quality |
| colonic epithelium | UBERON:0000397 | 81.15 | gold quality |
| corpus callosum | UBERON:0002336 | 80.74 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 79.82 | gold quality |
| tonsil | UBERON:0002372 | 79.51 | gold quality |
| endometrium | UBERON:0001295 | 77.01 | gold quality |
| gastrocnemius | UBERON:0001388 | 76.75 | gold quality |
| muscle tissue | UBERON:0002385 | 76.58 | gold quality |
| adrenal tissue | UBERON:0018303 | 76.56 | gold quality |
| muscle of leg | UBERON:0001383 | 76.34 | gold quality |
| leukocyte | CL:0000738 | 76.27 | gold quality |
| monocyte | CL:0000576 | 76.25 | gold quality |
| skin of abdomen | UBERON:0001416 | 76.03 | gold quality |
| zone of skin | UBERON:0000014 | 75.93 | gold quality |
| skin of leg | UBERON:0001511 | 75.65 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 75.41 | gold quality |
| uterine cervix | UBERON:0000002 | 75.09 | gold quality |
| mucosa of stomach | UBERON:0001199 | 75.09 | gold quality |
| tibial nerve | UBERON:0001323 | 74.94 | gold quality |
| cortical plate | UBERON:0005343 | 74.93 | gold quality |
| ovary | UBERON:0000992 | 74.76 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 74.70 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 74.64 | gold quality |
| left ovary | UBERON:0002119 | 74.53 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 74.49 | gold quality |
| thyroid gland | UBERON:0002046 | 74.48 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-10 | no | 225.32 |
| E-ANND-3 | no | 2.26 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
742 targeting INO80D, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
Literature-anchored findings (GeneRIF, showing 2)
- INO80D is a subunit of the human INO80 chromatin remodeling complex; its Ser818Cys mutation has a role in accelerated arterial aging (PMID:25122053)
- expression levels of CR933609 and INO80D were decreased in CR933609-knockdown NSCLC cells, but only expression levels of INO80D decreased in INO80D knockdown cells. It was shown that there are independent promoters in CR933609 and INO80D (PMID:29750421)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ino80da | ENSDARG00000104727 |
| mus_musculus | Ino80d | ENSMUSG00000040865 |
| rattus_norvegicus | Ino80d | ENSRNOG00000024272 |
| drosophila_melanogaster | l(3)L1231 | FBGN0086686 |
| caenorhabditis_elegans | WBGENE00016409 |
Protein
Protein identifiers
INO80 complex subunit D — Q53TQ3 (reviewed: Q53TQ3)
All UniProt accessions (3): Q53TQ3, C9JLV2, C9JLZ4
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.
Similarity. Belongs to the INO80D family.
RefSeq proteins (1): NP_060229* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR025927 | Znf_KANL2-like | Domain |
Pfam: PF13891
UniProt features (19 total): compositionally biased region 6, region of interest 5, sequence conflict 4, chain 1, modified residue 1, cross-link 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q53TQ3-F1 | 52.25 | 0.06 |
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): 132, 87
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: 416 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, TGGTGCT_MIR29A_MIR29B_MIR29C, GOBP_CHROMOSOME_ORGANIZATION, RRAGTTGT_UNKNOWN, ATACCTC_MIR202, GOBP_TELOMERE_ORGANIZATION, AP2_Q3, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, CACCAGC_MIR138, GGGTGGRR_PAX4_03, GOBP_REGULATION_OF_DNA_REPAIR, GOBP_REGULATION_OF_TELOMERE_MAINTENANCE, NFKB_C, YY1_02
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 (0):
GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), Ino80 complex (GO:0031011)
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 |
| 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 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| nuclear chromosome | 1 |
| INO80-type complex | 1 |
Protein interactions and networks
STRING
1260 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| INO80D | INO80E | Q8NBZ0 | 754 |
| INO80D | MRTO4 | Q9UKD2 | 498 |
| INO80D | NOC3L | Q8WTT2 | 486 |
| INO80D | INO80B | Q9C086 | 455 |
| INO80D | MPRIP | Q6WCQ1 | 450 |
| INO80D | GIN1 | Q9NXP7 | 449 |
| INO80D | K7ENP7 | K7ENP7 | 442 |
| INO80D | INO80C | Q6PI98 | 441 |
| INO80D | LPIN3 | Q9BQK8 | 438 |
| INO80D | FAM110B | Q8TC76 | 433 |
| INO80D | TMEM216 | Q9P0N5 | 425 |
| INO80D | MAP3K3 | Q99759 | 425 |
| INO80D | BPIFB1 | Q8TDL5 | 417 |
| INO80D | BUD31 | P41223 | 411 |
| INO80D | ATRN | O75882 | 406 |
IntAct
29 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| UCHL5 | PSMD11 | psi-mi:“MI:0914”(association) | 0.840 |
| YY1 | ACTL6A | psi-mi:“MI:0914”(association) | 0.830 |
| INO80E | TFPT | psi-mi:“MI:0914”(association) | 0.790 |
| YY1 | TFPT | psi-mi:“MI:0914”(association) | 0.740 |
| INO80C | YY1 | psi-mi:“MI:0914”(association) | 0.740 |
| 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 |
| YY1 | YY2 | psi-mi:“MI:0914”(association) | 0.570 |
| Ruvbl1 | AAR2 | psi-mi:“MI:0914”(association) | 0.350 |
| Ruvbl2 | TTI2 | psi-mi:“MI:0914”(association) | 0.350 |
| ACTR5 | TBRG1 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| UCHL5 | PSMD11 | psi-mi:“MI:0914”(association) | 0.350 |
| INO80 | ACTL6B | psi-mi:“MI:0914”(association) | 0.350 |
| TFPT | CCP110 | psi-mi:“MI:0914”(association) | 0.350 |
| INO80E | CHD1 | psi-mi:“MI:0914”(association) | 0.350 |
| INO80B | ACTL6A | psi-mi:“MI:0914”(association) | 0.350 |
| ACTR8 | ACTL6A | psi-mi:“MI:0914”(association) | 0.350 |
| ACTL6A | TFPT | psi-mi:“MI:0914”(association) | 0.350 |
| MCRS1 | ACTL6A | psi-mi:“MI:0914”(association) | 0.350 |
| INO80D | ACTL6A | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (64): INO80D (Affinity Capture-MS), INO80D (Affinity Capture-MS), INO80D (Affinity Capture-MS), INO80D (Affinity Capture-MS), INO80D (Affinity Capture-MS), INO80D (Affinity Capture-MS), INO80D (Affinity Capture-MS), INO80D (Affinity Capture-MS), MED15 (Negative Genetic), INO80D (Positive Genetic), INO80D (Affinity Capture-RNA), INO80D (Affinity Capture-MS), INO80D (Affinity Capture-MS), INO80D (Affinity Capture-MS), INO80D (Positive Genetic)
ESM2 similar proteins: A0A0R4IBL7, A2A891, A3RK74, A4L7N3, B5DE09, E1BPQ1, G3V7R4, O15014, O43524, P11420, P15806, P15881, P15884, P15923, P21677, P30985, P51514, P70365, P98180, Q01978, Q12778, Q14135, Q15596, Q15788, Q4PJW2, Q53TQ3, Q60420, Q60722, Q61026, Q61286, Q62655, Q66IY8, Q66JJ0, Q6DIH5, Q6EUW2, Q6NZT6, Q6PCG7, Q7T2G1, Q7ZXS3, Q80V24
Diamond homologs: A1L1F6, Q2NL14, Q53TQ3, Q54J07, Q566I1, Q5R802, Q66JY2, Q6AY70, Q861R7, Q8BQR4, Q9H9L4
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| INO80D | “form complex” | “INO80 complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 26 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) | 10 | 228.4× | 3e-21 |
| DNA Damage Recognition in GG-NER | 11 | 157.0× | 3e-21 |
| Nucleotide Excision Repair | 10 | 142.8× | 6e-19 |
| UCH proteinases | 13 | 80.7× | 3e-21 |
| Deubiquitination | 10 | 62.1× | 4e-15 |
| DNA Repair | 10 | 49.2× | 3e-14 |
| Chromatin organization | 5 | 20.4× | 6e-05 |
| Chromatin modifying enzymes | 5 | 18.1× | 9e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of telomere maintenance in response to DNA damage | 13 | 608.5× | 3e-35 |
| regulation of DNA strand elongation | 13 | 570.5× | 7e-35 |
| regulation of chromosome organization | 13 | 507.1× | 7e-34 |
| regulation of DNA replication | 13 | 198.4× | 6e-27 |
| positive regulation of DNA repair | 13 | 194.2× | 7e-27 |
| regulation of embryonic development | 13 | 179.0× | 2e-26 |
| DNA recombination | 11 | 154.5× | 2e-21 |
| regulation of DNA repair | 13 | 149.6× | 2e-25 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
135 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 118 |
| Likely benign | 2 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2731 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:206007278:CTATA:C | donor_loss | 1.0000 |
| 2:206007279:TATA:T | donor_loss | 1.0000 |
| 2:206007280:ATACC:A | donor_loss | 1.0000 |
| 2:206007281:TAC:T | donor_loss | 1.0000 |
| 2:206007283:C:CA | donor_loss | 1.0000 |
| 2:206007346:T:TA | donor_gain | 1.0000 |
| 2:206007439:CTC:C | acceptor_gain | 1.0000 |
| 2:206007441:CCTGG:C | acceptor_loss | 1.0000 |
| 2:206007442:C:CC | acceptor_gain | 1.0000 |
| 2:206019698:A:AC | donor_gain | 1.0000 |
| 2:206019699:C:CC | donor_gain | 1.0000 |
| 2:206019715:T:A | donor_gain | 1.0000 |
| 2:206019841:TTATG:T | acceptor_gain | 1.0000 |
| 2:206019842:TATG:T | acceptor_gain | 1.0000 |
| 2:206019843:ATG:A | acceptor_gain | 1.0000 |
| 2:206019844:TG:T | acceptor_gain | 1.0000 |
| 2:206019844:TGC:T | acceptor_loss | 1.0000 |
| 2:206019846:C:CC | acceptor_gain | 1.0000 |
| 2:206019846:CTAAG:C | acceptor_loss | 1.0000 |
| 2:206019847:T:C | acceptor_loss | 1.0000 |
| 2:206028105:TCTAA:T | donor_loss | 1.0000 |
| 2:206028106:CTAAC:C | donor_loss | 1.0000 |
| 2:206028107:TAA:T | donor_loss | 1.0000 |
| 2:206028108:AAC:A | donor_loss | 1.0000 |
| 2:206028110:C:CG | donor_loss | 1.0000 |
| 2:206028331:CTGAC:C | acceptor_gain | 1.0000 |
| 2:206028343:G:C | acceptor_gain | 1.0000 |
| 2:206028343:G:GC | acceptor_gain | 1.0000 |
| 2:206046497:GACTT:G | donor_loss | 1.0000 |
| 2:206046499:CTTAC:C | donor_loss | 1.0000 |
AlphaMissense
6735 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:206005488:A:G | L655P | 1.000 |
| 2:206017692:A:C | H510Q | 1.000 |
| 2:206017692:A:T | H510Q | 1.000 |
| 2:206017701:A:C | C507W | 1.000 |
| 2:206017702:C:A | C507F | 1.000 |
| 2:206017702:C:G | C507S | 1.000 |
| 2:206017702:C:T | C507Y | 1.000 |
| 2:206017703:A:G | C507R | 1.000 |
| 2:206017703:A:T | C507S | 1.000 |
| 2:206017743:G:C | C493W | 1.000 |
| 2:206017744:C:G | C493S | 1.000 |
| 2:206017744:C:T | C493Y | 1.000 |
| 2:206017745:A:G | C493R | 1.000 |
| 2:206017745:A:T | C493S | 1.000 |
| 2:206017761:A:C | F487L | 1.000 |
| 2:206017761:A:T | F487L | 1.000 |
| 2:206017762:A:C | F487C | 1.000 |
| 2:206017762:A:G | F487S | 1.000 |
| 2:206017763:A:G | F487L | 1.000 |
| 2:206017768:G:T | A485D | 1.000 |
| 2:206017773:G:C | C483W | 1.000 |
| 2:206017774:C:G | C483S | 1.000 |
| 2:206017774:C:T | C483Y | 1.000 |
| 2:206017775:A:G | C483R | 1.000 |
| 2:206017775:A:T | C483S | 1.000 |
| 2:206056928:G:C | H78Q | 1.000 |
| 2:206056928:G:T | H78Q | 1.000 |
| 2:206056929:T:C | H78R | 1.000 |
| 2:206056930:G:A | H78Y | 1.000 |
| 2:206056930:G:C | H78D | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000023869 (2:206000500 G>T), RS1000060084 (2:206005846 T>C), RS1000118195 (2:206000302 T>C,G), RS1000146949 (2:206085560 G>A), RS1000148194 (2:206045400 A>G), RS1000213995 (2:206043608 C>A,T), RS1000287065 (2:206021426 C>G), RS1000313870 (2:206046886 T>C), RS1000345622 (2:206076981 C>A,G), RS1000386590 (2:206081137 T>C), RS1000398387 (2:206070206 A>T), RS1000401492 (2:206025371 T>C), RS1000434964 (2:206045675 A>G), RS1000439000 (2:206027975 G>A,T), RS1000458790 (2:206076710 C>T)
Disease associations
OMIM: gene MIM:619207 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): megacolon (MONDO:0001273)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000426_9 | Obesity (extreme) | 8.000000e-06 |
| GCST004619_200 | Reticulocyte fraction of red cells | 8.000000e-09 |
| GCST005951_45 | Body mass index | 1.000000e-09 |
| GCST007565_91 | Morning person | 1.000000e-13 |
| GCST007576_291 | Chronotype | 1.000000e-13 |
| GCST011494_17 | Daytime nap | 4.000000e-12 |
| GCST90020024_1166 | A body shape index | 4.000000e-09 |
| GCST90020029_853 | Waist circumference adjusted for body mass index | 2.000000e-08 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007986 | reticulocyte count |
| EFO:0004340 | body mass index |
| EFO:0008328 | chronotype measurement |
| EFO:0007828 | daytime rest measurement |
| EFO:0007789 | BMI-adjusted waist circumference |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008531 | Megacolon | C06.405.469.158.701 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression | 5 |
| mercuric bromide | decreases expression, affects cotreatment | 2 |
| Cisplatin | affects cotreatment, decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| trichostatin A | affects expression | 1 |
| sodium arsenite | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| entinostat | decreases expression | 1 |
| scriptaid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| torcetrapib | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| suberoyl bis-hydroxamic acid | decreases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Rifampin | decreases expression | 1 |
| Dronabinol | increases expression | 1 |
| Thimerosal | increases expression | 1 |
Clinical trials (associated diseases)
2 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04340856 | Not specified | COMPLETED | Retrospective, Uncontrolled Cohort Study on the Therapy of Chronic Megalon |
| NCT07470892 | Not specified | NOT_YET_RECRUITING | Preoperative Fish Oil PN and Prognosis After Constipation Surgery |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): megacolon