NCOA5
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Also known as bA465L10.6CIA
Summary
NCOA5 (nuclear receptor coactivator 5, HGNC:15909) is a protein-coding gene on chromosome 20q13.12, encoding Nuclear receptor coactivator 5 (Q9HCD5). Nuclear receptor coregulator that can have both coactivator and corepressor functions.
This gene encodes a coregulator for the alpha and beta estrogen receptors and the orphan nuclear receptor NR1D2. The protein localizes to the nucleus, and is thought to have both coactivator and corepressor functions. Its interaction with nuclear receptors is independent of the AF2 domain on the receptors, which is known to regulate interaction with other coreceptors. Several alternatively spliced transcript variants have been found for this gene.
Source: NCBI Gene 57727 — RefSeq curated summary.
At a glance
- GWAS associations: 13
- Clinical variants (ClinVar): 104 total
- MANE Select transcript:
NM_020967
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:15909 |
| Approved symbol | NCOA5 |
| Name | nuclear receptor coactivator 5 |
| Location | 20q13.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | bA465L10.6, CIA |
| Ensembl gene | ENSG00000124160 |
| Ensembl biotype | protein_coding |
| OMIM | 616825 |
| Entrez | 57727 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 7 protein_coding
ENST00000290231, ENST00000372291, ENST00000851082, ENST00000870777, ENST00000934594, ENST00000934595, ENST00000968230
RefSeq mRNA: 5 — MANE Select: NM_020967
NM_001348148, NM_001348149, NM_001348150, NM_001348151, NM_020967
CCDS: CCDS13392
Canonical transcript exons
ENST00000290231 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000662541 | 46068502 | 46068638 |
| ENSE00001672871 | 46065029 | 46065228 |
| ENSE00001753187 | 46079387 | 46079453 |
| ENSE00003476758 | 46070210 | 46070536 |
| ENSE00003784743 | 46067055 | 46067181 |
| ENSE00003843208 | 46089817 | 46089962 |
| ENSE00004283663 | 46060991 | 46062889 |
| ENSE00004283664 | 46063360 | 46063680 |
Expression profiles
Bgee: expression breadth ubiquitous, 231 present calls, max score 97.16.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 27.0760 / max 341.1447, expressed in 1807 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 187538 | 27.0760 | 1807 |
Top tissues by expression
253 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oviduct epithelium | UBERON:0004804 | 97.16 | gold quality |
| ileal mucosa | UBERON:0000331 | 91.56 | gold quality |
| cortical plate | UBERON:0005343 | 91.54 | gold quality |
| ganglionic eminence | UBERON:0004023 | 91.23 | gold quality |
| embryo | UBERON:0000922 | 91.22 | gold quality |
| ventricular zone | UBERON:0003053 | 90.81 | gold quality |
| calcaneal tendon | UBERON:0003701 | 90.70 | gold quality |
| granulocyte | CL:0000094 | 90.14 | gold quality |
| sural nerve | UBERON:0015488 | 89.93 | gold quality |
| fallopian tube | UBERON:0003889 | 89.79 | gold quality |
| islet of Langerhans | UBERON:0000006 | 89.24 | gold quality |
| left ovary | UBERON:0002119 | 89.09 | gold quality |
| right ovary | UBERON:0002118 | 89.04 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 89.04 | gold quality |
| cerebellar cortex | UBERON:0002129 | 88.90 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 88.74 | gold quality |
| right testis | UBERON:0004534 | 88.40 | gold quality |
| ovary | UBERON:0000992 | 88.16 | gold quality |
| body of uterus | UBERON:0009853 | 88.09 | gold quality |
| cerebellum | UBERON:0002037 | 88.04 | gold quality |
| endocervix | UBERON:0000458 | 87.77 | gold quality |
| testis | UBERON:0000473 | 87.75 | gold quality |
| left uterine tube | UBERON:0001303 | 87.72 | gold quality |
| left testis | UBERON:0004533 | 87.64 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 87.48 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 87.44 | gold quality |
| lymph node | UBERON:0000029 | 87.35 | gold quality |
| spleen | UBERON:0002106 | 87.16 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 87.04 | gold quality |
| lower esophagus | UBERON:0013473 | 87.03 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.03 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
72 targeting NCOA5, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-579-3P | 99.86 | 71.66 | 3628 |
| HSA-MIR-664B-3P | 99.84 | 71.65 | 3590 |
| HSA-MIR-3934-3P | 99.76 | 65.51 | 1351 |
| HSA-MIR-3150A-3P | 99.76 | 64.44 | 1640 |
| HSA-MIR-6763-5P | 99.76 | 64.68 | 1767 |
| HSA-MIR-3913-3P | 99.74 | 66.53 | 938 |
| HSA-MIR-10393-3P | 99.72 | 66.56 | 961 |
| HSA-MIR-6801-5P | 99.72 | 66.50 | 981 |
| HSA-MIR-1283 | 99.69 | 72.42 | 3009 |
| HSA-MIR-3175 | 99.65 | 66.30 | 2031 |
| HSA-MIR-24-3P | 99.59 | 69.97 | 1934 |
| HSA-MIR-510-3P | 99.54 | 70.06 | 2965 |
Literature-anchored findings (GeneRIF, showing 10)
- gene polymorphism confers susceptibility to psoriasis in a Southern European population (PMID:21645569)
- suggest that NCOA5 is a haploinsufficient tumor suppressor and that NCOA5 deficiency increases susceptibility to both glucose intolerance and HCC, partially by increasing IL-6 expression (PMID:24332041)
- NCOA5 low expression correlates with survival in esophageal squamous cell carcinoma. (PMID:25416054)
- This study provides new insights and evidences that NOCA5 over-expression was significantly correlated with progression and prognosis in luminal breast cancer. However, the precise cellular mechanisms for NOCA5 in luminal breast cancer need to be further explored. (PMID:27847318)
- knockout of NCOA5 can suppress the epithelial - mesenchymal transition (EMT) in hepatocellular carcinoma cells. (PMID:29626478)
- Results found the expression levels of NCOA5 mRNA and protein significantly decreased in cervical cancer (CC) tissues and correlated with poor overall survival. Its upregulation might suppress cancer cell proliferation, migration, and invasion by inactivating NOTCH3 signaling pathway. These findings suggest that NCOA5 acts as a tumor suppressor and represents a potential novel prognostic marker for overall survival in CC. (PMID:30335900)
- Nuclear Receptor Coactivator 5 is Correlated with Progression in Breast Carcinoma. (PMID:33573580)
- Analysis of Nuclear Receptor Coactivator 5 (NCOA5) Messenger RNA Expression and rs2903908 Single Nucleotide Polymorphism of NCOA5 in an Egyptian Cohort with Behcet’s Disease: A Single-Center Case-control Study. (PMID:34255592)
- NCOA5 Haploinsufficiency in Myeloid-Lineage Cells Sufficiently Causes Nonalcoholic Steatohepatitis and Hepatocellular Carcinoma. (PMID:37734594)
- Could NCOA5 a novel candidate gene for multiple sclerosis susceptibility? (PMID:37817021)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ncoa5 | ENSDARG00000016345 |
| mus_musculus | Ncoa5 | ENSMUSG00000039804 |
| rattus_norvegicus | Ncoa5 | ENSRNOG00000017824 |
| drosophila_melanogaster | Neos | FBGN0024542 |
Protein
Protein identifiers
Nuclear receptor coactivator 5 — Q9HCD5 (reviewed: Q9HCD5)
Alternative names: Coactivator independent of AF-2
All UniProt accessions (2): Q9HCD5, Q5JY17
UniProt curated annotations — full annotation on UniProt →
Function. Nuclear receptor coregulator that can have both coactivator and corepressor functions. Interacts with nuclear receptors for steroids (ESR1 and ESR2) independently of the steroid binding domain (AF-2) of the ESR receptors, and with the orphan nuclear receptor NR1D2. Involved in the coactivation of nuclear steroid receptors (ER) as well as the corepression of MYC in response to 17-beta-estradiol (E2).
Subunit / interactions. Binds HTATIP2/TIP30. Interacts with YLPM1. Forms a complex with ILF2, ILF3, YLPM1, KHDRBS1, RBMX and PPP1CA.
Subcellular location. Nucleus.
Tissue specificity. Widely expressed.
Domain organisation. Contains one Leu-Xaa-Xaa-Leu-Leu (LxxLL) motif that is essential for the association with nuclear receptors.
RefSeq proteins (5): NP_001335077, NP_001335078, NP_001335079, NP_001335080, NP_066018* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR036621 | Anticodon-bd_dom_sf | Homologous_superfamily |
| IPR052600 | Nuc_rcpt_coact/corep | Family |
UniProt features (49 total): modified residue 16, region of interest 7, compositionally biased region 7, strand 7, helix 6, mutagenesis site 2, chain 1, sequence variant 1, turn 1, short sequence motif 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2J7Y | X-RAY DIFFRACTION | 1.8 |
| 2J7X | X-RAY DIFFRACTION | 2.1 |
| 4ZI1 | X-RAY DIFFRACTION | 2.1 |
| 1V95 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9HCD5-F1 | 59.36 | 0.11 |
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 (16): 1, 3, 9, 21, 24, 29, 34, 96, 116, 126, 143, 151, 274, 378, 379, 381
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 342 | abolishes e2-inducible strong interaction with esr1, but not basal interaction. |
| 348–349 | abolishes interaction with esr1. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 150 (showing top):
GGGACCA_MIR133A_MIR133B, RNGTGGGC_UNKNOWN, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, TGCGCANK_UNKNOWN, CMYB_01, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_RESPONSE_TO_INSULIN_STIMULUS, GCM_ZNF198, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GGCNKCCATNK_UNKNOWN, GOBP_CELLULAR_RESPONSE_TO_INSULIN_STIMULUS, EFC_Q6, GOBP_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS, MARTINEZ_RB1_TARGETS_DN, GOBP_RESPONSE_TO_INSULIN, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND
GO Biological Process (5): negative regulation of transcription by RNA polymerase II (GO:0000122), insulin receptor signaling pathway (GO:0008286), regulation of signal transduction (GO:0009966), glucose homeostasis (GO:0042593), negative regulation of insulin receptor signaling pathway (GO:0046627)
GO Molecular Function (4): chromatin binding (GO:0003682), transcription corepressor activity (GO:0003714), RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (4): obsolete extracellular space (GO:0005615), nucleoplasm (GO:0005654), actin cytoskeleton (GO:0015629), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| negative regulation of DNA-templated transcription | 2 |
| binding | 2 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| cell surface receptor protein tyrosine kinase signaling pathway | 1 |
| cellular response to insulin stimulus | 1 |
| signal transduction | 1 |
| regulation of cell communication | 1 |
| regulation of signaling | 1 |
| regulation of response to stimulus | 1 |
| carbohydrate homeostasis | 1 |
| insulin receptor signaling pathway | 1 |
| negative regulation of signal transduction | 1 |
| regulation of insulin receptor signaling pathway | 1 |
| negative regulation of cellular response to insulin stimulus | 1 |
| transcription coregulator activity | 1 |
| nucleic acid binding | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| cytoskeleton | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
2191 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NCOA5 | ESR2 | Q92731 | 642 |
| NCOA5 | NUP50 | Q9UKX7 | 538 |
| NCOA5 | CDH22 | Q9UJ99 | 509 |
| NCOA5 | NUP98 | P52948 | 475 |
| NCOA5 | CIMIP1 | Q9H1P6 | 450 |
| NCOA5 | NPEPL1 | Q8NDH3 | 448 |
| NCOA5 | WDR26 | Q9H7D7 | 421 |
| NCOA5 | YAE1 | Q9NRH1 | 409 |
| NCOA5 | BLZF1 | Q9H2G9 | 406 |
| NCOA5 | DCXR | Q7Z4W1 | 393 |
| NCOA5 | GLG1 | Q92896 | 388 |
| NCOA5 | ZC3H4 | Q9UPT8 | 359 |
| NCOA5 | NR2C2AP | Q86WQ0 | 353 |
| NCOA5 | MMD | Q15546 | 350 |
| NCOA5 | TMEM94 | Q12767 | 348 |
IntAct
103 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PAIP1 | PABPC1 | psi-mi:“MI:0914”(association) | 0.970 |
| MED21 | MED19 | psi-mi:“MI:0914”(association) | 0.880 |
| KHDRBS2 | KHDRBS3 | psi-mi:“MI:0914”(association) | 0.800 |
| ILF3 | ADAR | psi-mi:“MI:0914”(association) | 0.640 |
| NCOA5 | NCOA5 | psi-mi:“MI:0915”(physical association) | 0.550 |
| LRRC4C | DVL2 | psi-mi:“MI:0914”(association) | 0.530 |
| RBMX | PTCD1 | psi-mi:“MI:0914”(association) | 0.530 |
| SYNGAP1 | SEC16A | psi-mi:“MI:0914”(association) | 0.530 |
| SNRPC | SNRPGP15 | psi-mi:“MI:0914”(association) | 0.530 |
| Nr1d2 | NCOA5 | psi-mi:“MI:0915”(physical association) | 0.510 |
| CPSF6 | DDX39A | psi-mi:“MI:0914”(association) | 0.480 |
| PTBP3 | HNRNPC | psi-mi:“MI:0914”(association) | 0.480 |
| NCOA5 | AIFM1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| NCOA5 | GALC | psi-mi:“MI:0915”(physical association) | 0.400 |
| NCOA5 | ESR1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| NCOA5 | NTAQ1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| NCOA5 | rep | psi-mi:“MI:0915”(physical association) | 0.370 |
| CDC37 | NCOA5 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TSC22D1 | NCOA5 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Taf15 | BTBD10 | psi-mi:“MI:0914”(association) | 0.350 |
| MPHOSPH8 | HCFC1 | psi-mi:“MI:0914”(association) | 0.350 |
| MATR3 | BCLAF3 | psi-mi:“MI:0914”(association) | 0.350 |
| HNRNPA1 | MATR3 | psi-mi:“MI:0914”(association) | 0.350 |
| TWNK | RAD9A | psi-mi:“MI:0914”(association) | 0.350 |
| Fus | DDX3X | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (168): NCOA5 (Two-hybrid), NCOA5 (Two-hybrid), NCOA5 (Two-hybrid), SYT16 (Two-hybrid), KHDRBS2 (Two-hybrid), NCOA5 (Affinity Capture-RNA), NCOA5 (Affinity Capture-RNA), NCOA5 (Affinity Capture-MS), NCOA5 (Affinity Capture-MS), NCOA5 (Affinity Capture-MS), NCOA5 (Affinity Capture-MS), AMZ2 (Affinity Capture-MS), GALC (Affinity Capture-MS), NCOA5 (Affinity Capture-MS), NCOA5 (Proximity Label-MS)
ESM2 similar proteins: A0A8M2, A0JMU8, A1L1K8, A5D7H5, B9DFV2, E1BUG7, F4JP52, G1SW77, G3X9Z4, O08719, O15234, O94913, Q0V898, Q1LVV0, Q2T9I5, Q32NW2, Q3MHF8, Q498K9, Q566L7, Q5CZI8, Q5JVS0, Q5R4R4, Q5T8P6, Q5TYQ8, Q659C4, Q68FI1, Q6AXS5, Q6NVR8, Q6NZN0, Q6PKG0, Q8AVJ2, Q8CGC4, Q8K2F8, Q8K3W3, Q8K3X0, Q8NC51, Q8ND56, Q91W18, Q91W39, Q96D71
Diamond homologs: Q91W39, Q9HCD5
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 137 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 |
|---|---|---|---|
| RNA Polymerase II Transcription Termination | 9 | 23.5× | 2e-08 |
| Transport of Mature Transcript to Cytoplasm | 5 | 22.7× | 9e-05 |
| mRNA 3’-end processing | 9 | 21.1× | 3e-08 |
| mRNA Polyadenylation | 15 | 15.7× | 9e-12 |
| mRNA Splicing | 10 | 13.1× | 3e-07 |
| Processing of Capped Intron-Containing Pre-mRNA | 13 | 12.7× | 4e-09 |
| Transport of Mature mRNA derived from an Intron-Containing Transcript | 6 | 10.9× | 5e-04 |
| mRNA Splicing - Major Pathway | 13 | 8.5× | 3e-07 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| regulation of alternative mRNA splicing, via spliceosome | 12 | 24.8× | 4e-11 |
| activation of innate immune response | 5 | 20.4× | 4e-04 |
| mitophagy | 5 | 13.5× | 2e-03 |
| regulation of RNA splicing | 7 | 13.0× | 1e-04 |
| mRNA splicing, via spliceosome | 14 | 10.9× | 2e-08 |
| circadian regulation of gene expression | 5 | 9.9× | 8e-03 |
| autophagosome assembly | 5 | 9.5× | 9e-03 |
| RNA processing | 5 | 9.3× | 9e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
104 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 95 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1196 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:46063354:G:C | donor_gain | 1.0000 |
| 20:46063355:CTCAC:C | donor_loss | 1.0000 |
| 20:46063356:TCACC:T | donor_loss | 1.0000 |
| 20:46063357:CACC:C | donor_loss | 1.0000 |
| 20:46063358:A:AC | donor_gain | 1.0000 |
| 20:46063359:C:CA | donor_loss | 1.0000 |
| 20:46063359:C:CC | donor_gain | 1.0000 |
| 20:46063359:CCAGG:C | donor_gain | 1.0000 |
| 20:46063676:ATGCT:A | acceptor_gain | 1.0000 |
| 20:46063677:TGCT:T | acceptor_gain | 1.0000 |
| 20:46063678:GCT:G | acceptor_gain | 1.0000 |
| 20:46063679:CT:C | acceptor_gain | 1.0000 |
| 20:46063679:CTC:C | acceptor_gain | 1.0000 |
| 20:46063680:TCT:T | acceptor_gain | 1.0000 |
| 20:46063681:C:A | acceptor_gain | 1.0000 |
| 20:46063681:C:CC | acceptor_gain | 1.0000 |
| 20:46063683:G:C | acceptor_gain | 1.0000 |
| 20:46065116:C:A | donor_gain | 1.0000 |
| 20:46065227:CT:C | acceptor_gain | 1.0000 |
| 20:46065229:C:CC | acceptor_gain | 1.0000 |
| 20:46067050:CTTAC:C | donor_loss | 1.0000 |
| 20:46067051:TTA:T | donor_loss | 1.0000 |
| 20:46067052:TACT:T | donor_loss | 1.0000 |
| 20:46067053:A:AC | donor_gain | 1.0000 |
| 20:46067053:ACTTT:A | donor_loss | 1.0000 |
| 20:46067054:C:CA | donor_gain | 1.0000 |
| 20:46067054:CT:C | donor_gain | 1.0000 |
| 20:46067177:ACGCT:A | acceptor_gain | 1.0000 |
| 20:46067178:CGCT:C | acceptor_gain | 1.0000 |
| 20:46067178:CGCTC:C | acceptor_gain | 1.0000 |
AlphaMissense
3796 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:46062400:A:G | L547P | 1.000 |
| 20:46062409:A:G | L544P | 1.000 |
| 20:46062736:A:C | I435S | 1.000 |
| 20:46062736:A:G | I435T | 1.000 |
| 20:46062736:A:T | I435N | 1.000 |
| 20:46063410:A:G | L367P | 1.000 |
| 20:46063464:A:G | L349P | 1.000 |
| 20:46063467:A:G | L348P | 1.000 |
| 20:46063639:C:G | A291P | 1.000 |
| 20:46063644:A:G | L289P | 1.000 |
| 20:46063653:G:T | A286D | 1.000 |
| 20:46063654:C:G | A286P | 1.000 |
| 20:46063668:A:C | M281R | 1.000 |
| 20:46063668:A:G | M281T | 1.000 |
| 20:46063670:G:C | N280K | 1.000 |
| 20:46063670:G:T | N280K | 1.000 |
| 20:46063671:T:A | N280I | 1.000 |
| 20:46063674:C:A | R279L | 1.000 |
| 20:46063674:C:G | R279P | 1.000 |
| 20:46063675:G:C | R279G | 1.000 |
| 20:46063675:G:T | R279S | 1.000 |
| 20:46063676:A:C | H278Q | 1.000 |
| 20:46063676:A:T | H278Q | 1.000 |
| 20:46063677:T:C | H278R | 1.000 |
| 20:46063677:T:G | H278P | 1.000 |
| 20:46063678:G:C | H278D | 1.000 |
| 20:46063678:G:T | H278N | 1.000 |
| 20:46063679:C:A | E277D | 1.000 |
| 20:46063679:C:G | E277D | 1.000 |
| 20:46065049:A:C | I270S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000054566 (20:46072506 G>A), RS1000101064 (20:46074500 T>G), RS1000196533 (20:46085070 G>A,T), RS1000210951 (20:46088111 C>T), RS1000211537 (20:46078049 G>A), RS1000237187 (20:46083557 G>A), RS1000274514 (20:46066589 G>A), RS1000353873 (20:46089808 G>A), RS1000444715 (20:46078367 C>A), RS1000501159 (20:46082011 T>G), RS1000532312 (20:46083290 T>C), RS1000701941 (20:46075735 A>G), RS1000806092 (20:46089289 G>A,C), RS1001093141 (20:46089126 C>T), RS1001111809 (20:46088464 G>C)
Disease associations
OMIM: gene MIM:616825 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
13 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001198_64 | Multiple sclerosis | 5.000000e-10 |
| GCST003995_12 | Tonsillectomy | 7.000000e-12 |
| GCST004131_122 | Inflammatory bowel disease | 2.000000e-06 |
| GCST004132_43 | Crohn’s disease | 2.000000e-07 |
| GCST005014_178 | Tonsillectomy | 7.000000e-12 |
| GCST005752_163 | Systemic lupus erythematosus | 1.000000e-08 |
| GCST007062_6 | Hodgkin’s lymphoma | 2.000000e-08 |
| GCST007400_68 | Systemic lupus erythematosus | 1.000000e-07 |
| GCST008718_2 | Follicular lymphoma or multiple sclerosis | 1.000000e-07 |
| GCST008722_4 | Diffuse large B-cell lymphoma or multiple sclerosis | 5.000000e-09 |
| GCST008723_6 | Marginal zone lymphoma or multiple sclerosis | 1.000000e-07 |
| GCST009597_22 | Multiple sclerosis | 5.000000e-19 |
| GCST010242_228 | HDL cholesterol levels | 1.000000e-08 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007924 | tonsillectomy risk measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, decreases methylation, increases expression | 4 |
| Rotenone | increases expression, decreases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| deoxynivalenol | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| coumarin | affects phosphorylation | 1 |
| avobenzone | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| pentabromodiphenyl ether | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Atrazine | decreases expression | 1 |
| Caffeine | affects phosphorylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Ivermectin | decreases expression | 1 |
| Lead | affects expression | 1 |
| Niclosamide | decreases expression | 1 |
| Oxygen | decreases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Tetrachlorodibenzodioxin | affects expression | 1 |
| 1-Methyl-4-phenylpyridinium | decreases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D1NZ | Abcam K-562 NCOA5 KO | Cancer cell line | Female |
| CVCL_D2KJ | Abcam Raji NCOA5 KO | Cancer cell line | Male |
| CVCL_WQ01 | Abcam Jurkat NCOA5 KO | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): diffuse large B-cell lymphoma, follicular lymphoma, Hodgkins lymphoma, marginal zone lymphoma