RNF25
gene geneOn this page
Also known as AO7FLJ13906
Summary
RNF25 (ring finger protein 25, HGNC:14662) is a protein-coding gene on chromosome 2q35, encoding E3 ubiquitin-protein ligase RNF25 (Q96BH1). E3 ubiquitin-protein ligase that plays a key role in the RNF14-RNF25 translation quality control pathway, a pathway that takes place when a ribosome has stalled during translation, and which promotes ubiquitination and degradation of translation factors on stalled ribosomes.
The protein encoded by this gene contains a RING finger motif. The mouse counterpart of this protein has been shown to interact with Rela, the p65 subunit of NF-kappaB (NFKB), and modulate NFKB-mediated transcription activity. The mouse protein also binds ubiquitin-conjugating enzymes (E2s) and is a substrate for E2-dependent ubiquitination.
Source: NCBI Gene 64320 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 84 total
- MANE Select transcript:
NM_022453
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14662 |
| Approved symbol | RNF25 |
| Name | ring finger protein 25 |
| Location | 2q35 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | AO7, FLJ13906 |
| Ensembl gene | ENSG00000163481 |
| Ensembl biotype | protein_coding |
| OMIM | 616014 |
| Entrez | 64320 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 13 protein_coding, 4 retained_intron, 1 nonsense_mediated_decay
ENST00000295704, ENST00000423170, ENST00000463188, ENST00000473034, ENST00000474339, ENST00000497832, ENST00000864475, ENST00000864476, ENST00000864477, ENST00000864478, ENST00000864479, ENST00000917058, ENST00000917059, ENST00000917060, ENST00000917061, ENST00000917062, ENST00000944909, ENST00000944910
RefSeq mRNA: 1 — MANE Select: NM_022453
NM_022453
CCDS: CCDS2420
Canonical transcript exons
ENST00000295704 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001144106 | 218663892 | 218664535 |
| ENSE00001940096 | 218671930 | 218672002 |
| ENSE00003464419 | 218668239 | 218668341 |
| ENSE00003545290 | 218668605 | 218668679 |
| ENSE00003563730 | 218667912 | 218667981 |
| ENSE00003603318 | 218666159 | 218666230 |
| ENSE00003605555 | 218668079 | 218668146 |
| ENSE00003661908 | 218665155 | 218665247 |
| ENSE00003662798 | 218664739 | 218664873 |
| ENSE00003665191 | 218665916 | 218666059 |
Expression profiles
Bgee: expression breadth ubiquitous, 217 present calls, max score 91.25.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.1635 / max 103.4859, expressed in 1794 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 33980 | 17.1635 | 1794 |
Top tissues by expression
270 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adenohypophysis | UBERON:0002196 | 91.25 | gold quality |
| granulocyte | CL:0000094 | 89.60 | gold quality |
| popliteal artery | UBERON:0002250 | 89.49 | gold quality |
| tibial artery | UBERON:0007610 | 89.49 | gold quality |
| prefrontal cortex | UBERON:0000451 | 89.44 | gold quality |
| pituitary gland | UBERON:0000007 | 89.25 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 89.19 | gold quality |
| left testis | UBERON:0004533 | 89.06 | gold quality |
| right testis | UBERON:0004534 | 89.06 | gold quality |
| stromal cell of endometrium | CL:0002255 | 89.04 | gold quality |
| right frontal lobe | UBERON:0002810 | 88.95 | gold quality |
| aorta | UBERON:0000947 | 88.93 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 88.79 | gold quality |
| right coronary artery | UBERON:0001625 | 88.78 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 88.76 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 88.74 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 88.71 | gold quality |
| cerebellar cortex | UBERON:0002129 | 88.65 | gold quality |
| mucosa of stomach | UBERON:0001199 | 88.62 | gold quality |
| colonic epithelium | UBERON:0000397 | 88.61 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 88.61 | gold quality |
| lower esophagus | UBERON:0013473 | 88.59 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 88.52 | gold quality |
| left coronary artery | UBERON:0001626 | 88.48 | gold quality |
| cingulate cortex | UBERON:0003027 | 88.48 | gold quality |
| calcaneal tendon | UBERON:0003701 | 88.45 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 88.39 | gold quality |
| thoracic aorta | UBERON:0001515 | 88.35 | gold quality |
| left uterine tube | UBERON:0001303 | 88.33 | gold quality |
| body of uterus | UBERON:0009853 | 88.29 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.55 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 5)
- Functional studies of the mouse counterpart (PMID:10500182)
- RING finger protein AO7 supports NF-kappaB-mediated transcription by interacting with the transactivation domain of the p65 subunit. (PMID:12748188)
- mutations having marked effects on function only minimally affect the intermolecular interactions between the AO7 RING and UbcH5B, establishing a high degree of complexity in activation through the RING-E2 interface. (PMID:26475854)
- RNF25 plays an essential role in gefitinib resistance of Non-small cell lung cancer by mediating cross-talk between NF-kappaB and ERK pathways. (PMID:29789542)
- Oxidative Stress Promotes Liver Cancer Metastasis via RNF25-Mediated E-Cadherin Protein Degradation. (PMID:38286671)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rnf25 | ENSDARG00000027182 |
| mus_musculus | Rnf25 | ENSMUSG00000026171 |
| rattus_norvegicus | Rnf25 | ENSRNOG00000016886 |
| drosophila_melanogaster | CG13344 | FBGN0033884 |
| caenorhabditis_elegans | WBGENE00021812 |
Protein
Protein identifiers
E3 ubiquitin-protein ligase RNF25 — Q96BH1 (reviewed: Q96BH1)
Alternative names: RING finger protein 25, RING finger protein AO7
All UniProt accessions (2): Q96BH1, H7C219
UniProt curated annotations — full annotation on UniProt →
Function. E3 ubiquitin-protein ligase that plays a key role in the RNF14-RNF25 translation quality control pathway, a pathway that takes place when a ribosome has stalled during translation, and which promotes ubiquitination and degradation of translation factors on stalled ribosomes. Catalyzes ubiquitination of RPS27A in response to ribosome collisions, promoting activation of RNF14. RNF25 catalyzes ubiquitination of other ribosomal proteins on stalled ribosomes, such as RPL0, RPL1, RPL12, RPS13 and RPS17. Also involved in ubiquitination and degradation of stalled ETF1/eRF1. Independently of its function in the response to stalled ribosomes, mediates ubiquitination and subsequent proteasomal degradation of NKD2. May also stimulate transcription mediated by NF-kappa-B via its interaction with RELA/p65.
Subunit / interactions. Interacts with UBE2D2, and may also interact with UBE2E1 and UBE2E3. Interacts with RELA/p65.
Subcellular location. Cytoplasm.
Post-translational modifications. Ubiquitinated; autoubiquitinated.
Pathway. Protein modification; protein ubiquitination.
Similarity. Belongs to the RNF25 family.
RefSeq proteins (1): NP_071898* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001841 | Znf_RING | Domain |
| IPR006575 | RWD_dom | Domain |
| IPR013083 | Znf_RING/FYVE/PHD | Homologous_superfamily |
| IPR016135 | UBQ-conjugating_enzyme/RWD | Homologous_superfamily |
| IPR039133 | RNF25 | Family |
Pfam: PF05773, PF13639
Enzyme classification (BRENDA):
- EC 2.3.2.27 — RING-type E3 ubiquitin transferase (BRENDA: 28 organisms, 138 substrates, 10 inhibitors, 1 Km, 1 kcat entries)
Substrate kinetics (BRENDA)
1 substrates with measured Km, best-characterized 1. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| [UBE2W]-S-UBIQUITINYL-L-CYSTEINE | 0.3014 | 1 |
UniProt features (48 total): binding site 8, mutagenesis site 8, strand 8, helix 6, turn 5, compositionally biased region 5, sequence conflict 2, region of interest 2, chain 1, domain 1, modified residue 1, zinc finger region 1
Structure
Experimental structures (PDB)
5 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5D1M | X-RAY DIFFRACTION | 1.58 |
| 5D1L | X-RAY DIFFRACTION | 1.62 |
| 5D1K | X-RAY DIFFRACTION | 1.78 |
| 2DAY | SOLUTION NMR | |
| 2DMF | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96BH1-F1 | 68.52 | 0.40 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (8): 135; 138; 153; 155; 158; 161; 198; 201
Post-translational modifications (1): 450
Mutagenesis-validated functional residues (8):
| Position | Phenotype |
|---|---|
| 135–138 | abolished e3 ubiquitin-protein ligase activity. |
| 137 | strongly reduced e3 ubiquitin-protein ligase activity, slightly reduced binding to ube2d2. |
| 159 | reduced activation of nf-kappa-b. |
| 161 | strongly reduced activation of nf-kappa-b. |
| 165 | decreased e3 ubiquitin-protein ligase activity, increased binding to ube2d2. |
| 199 | decreased e3 ubiquitin-protein ligase activity without affecting binding to ube2d2. |
| 242 | decreased binding to ube2d2. |
| 245 | decreased binding to ube2d2. |
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-983168 | Antigen processing: Ubiquitination & Proteasome degradation |
| R-HSA-1280218 | Adaptive Immune System |
| R-HSA-168256 | Immune System |
| R-HSA-983169 | Class I MHC mediated antigen processing & presentation |
MSigDB gene sets: 96 (showing top):
REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, EFC_Q6, GOBP_TRANSLATION, GOBP_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION, GGAANCGGAANY_UNKNOWN, NF1_Q6_01, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_PROTEIN_POLYUBIQUITINATION, GOBP_TRANSLATIONAL_ELONGATION, GOBP_POSITIVE_REGULATION_OF_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY, HAND1E47_01, SAGIV_CD24_TARGETS_DN
GO Biological Process (8): ubiquitin-dependent protein catabolic process (GO:0006511), protein ubiquitination (GO:0016567), obsolete positive regulation of NF-kappaB transcription factor activity (GO:0051092), rescue of stalled cytosolic ribosome (GO:0072344), protein K6-linked ubiquitination (GO:0085020), protein-RNA covalent cross-linking repair (GO:0160127), translational elongation (GO:0006414), translational termination (GO:0006415)
GO Molecular Function (7): ubiquitin-protein transferase activity (GO:0004842), zinc ion binding (GO:0008270), NF-kappaB binding (GO:0051059), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)
GO Cellular Component (4): nucleus (GO:0005634), cytosol (GO:0005829), cytosolic ribosome (GO:0022626), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Class I MHC mediated antigen processing & presentation | 1 |
| Immune System | 1 |
| Adaptive Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| translation | 2 |
| cellular anatomical structure | 2 |
| protein ubiquitination | 1 |
| modification-dependent protein catabolic process | 1 |
| protein modification by small protein conjugation | 1 |
| cytoplasmic translational elongation | 1 |
| ribosome disassembly | 1 |
| protein polyubiquitination | 1 |
| rescue of stalled cytosolic ribosome | 1 |
| macromolecule biosynthetic process | 1 |
| protein-containing complex disassembly | 1 |
| ubiquitin-like protein transferase activity | 1 |
| transition metal ion binding | 1 |
| RNA polymerase II-specific DNA-binding transcription factor binding | 1 |
| ubiquitin-protein transferase activity | 1 |
| ubiquitin-like protein ligase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| cytoplasm | 1 |
| cytosol | 1 |
| ribosome | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1072 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RNF25 | UBE2D2 | P51669 | 541 |
| RNF25 | FBXO42 | Q6P3S6 | 512 |
| RNF25 | UBE2D1 | P51668 | 501 |
| RNF25 | NKD2 | Q969F2 | 464 |
| RNF25 | HSD17B10 | Q99714 | 459 |
| RNF25 | ADGRG7 | Q96K78 | 442 |
| RNF25 | LCN2 | P30150 | 432 |
| RNF25 | LSM7 | Q9UK45 | 423 |
| RNF25 | ZNF319 | Q9P2F9 | 417 |
| RNF25 | GIT1 | Q9Y2X7 | 410 |
| RNF25 | RNF11 | Q9Y3C5 | 405 |
| RNF25 | PSMA6 | P34062 | 403 |
| RNF25 | GIT2 | Q14161 | 401 |
| RNF25 | RNF20 | Q5VTR2 | 401 |
| RNF25 | TMBIM1 | Q969X1 | 399 |
IntAct
64 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RNF25 | UBE2D3 | psi-mi:“MI:0915”(physical association) | 0.850 |
| UBE2D3 | RNF25 | psi-mi:“MI:0915”(physical association) | 0.850 |
| STX18 | NBAS | psi-mi:“MI:0914”(association) | 0.810 |
| UBE2D1 | RNF25 | psi-mi:“MI:0915”(physical association) | 0.800 |
| RNF25 | UBE2D2 | psi-mi:“MI:0915”(physical association) | 0.800 |
| RNF25 | UBE2E3 | psi-mi:“MI:0915”(physical association) | 0.800 |
| RNF25 | UBE2D1 | psi-mi:“MI:0915”(physical association) | 0.800 |
| UBE2D2 | RNF25 | psi-mi:“MI:0915”(physical association) | 0.800 |
| UBE2E3 | RNF25 | psi-mi:“MI:0915”(physical association) | 0.800 |
| HSPA8 | GAK | psi-mi:“MI:0914”(association) | 0.760 |
| RNF25 | UBE2D4 | psi-mi:“MI:0915”(physical association) | 0.750 |
| RNF25 | UBE2E1 | psi-mi:“MI:0915”(physical association) | 0.750 |
| UBE2D4 | RNF25 | psi-mi:“MI:0915”(physical association) | 0.750 |
| RNF25 | UBE2E1 | psi-mi:“MI:0914”(association) | 0.750 |
| UBE2E2 | RNF25 | psi-mi:“MI:0914”(association) | 0.740 |
| UBE2E2 | RNF25 | psi-mi:“MI:0915”(physical association) | 0.740 |
| STX5 | GOSR2 | psi-mi:“MI:0914”(association) | 0.670 |
| KCTD21 | RNF25 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MEOX2 | RNF25 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PRKN | RNF25 | psi-mi:“MI:0915”(physical association) | 0.560 |
| UBE2D2 | UBB | psi-mi:“MI:0914”(association) | 0.530 |
| MINDY3 | UBB | psi-mi:“MI:0914”(association) | 0.530 |
| RNF25 | IVL | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (147): RNF25 (Two-hybrid), RNF25 (Affinity Capture-MS), RNF25 (Affinity Capture-MS), RNF25 (Co-crystal Structure), UBE2D2 (Reconstituted Complex), RNF25 (Biochemical Activity), UBE2E3 (Reconstituted Complex), RNF25 (Affinity Capture-MS), RNF25 (Affinity Capture-MS), RNF25 (Affinity Capture-MS), UBE2D4 (Affinity Capture-MS), UBE2E1 (Affinity Capture-MS), RNF25 (Affinity Capture-MS), RNF25 (Affinity Capture-MS), UBE2D3 (Affinity Capture-MS)
ESM2 similar proteins: A0A0G2JXN2, A2RRU4, A4D2P6, A6QM06, D3YYI7, E1BBQ2, E9PGG2, F1LQY6, O19131, P19438, P29590, P50555, P52734, P55199, P97260, P98174, Q0VCT3, Q12770, Q3TAA7, Q3ZCA1, Q496Y0, Q4R4I0, Q5E9N3, Q5MNU5, Q5R5T1, Q60953, Q66T02, Q69Z89, Q6GQT6, Q70EL4, Q7TNM2, Q7Z4K8, Q7Z6J9, Q8BUM9, Q8C190, Q8CE64, Q8HXH0, Q8N1F8, Q8N554, Q8TC41
Diamond homologs: D4A7V9, Q5E9N3, Q7SXJ6, Q96BH1, Q9QZ05, Q9QZR0, Q9P2K8
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| Ub:E2 | “up-regulates activity” | RNF25 | ubiquitination |
| RNF25 | “down-regulates quantity by destabilization” | NKD2 | polyubiquitination |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 42 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 |
|---|---|---|---|
| Synthesis of active ubiquitin: roles of E1 and E2 enzymes | 5 | 55.8× | 4e-06 |
| Negative regulators of DDX58/IFIH1 signaling | 5 | 49.4× | 5e-06 |
| E3 ubiquitin ligases ubiquitinate target proteins | 5 | 29.3× | 4e-05 |
| Antigen processing: Ubiquitination & Proteasome degradation | 11 | 12.4× | 2e-07 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| protein K11-linked ubiquitination | 5 | 51.6× | 4e-06 |
| protein monoubiquitination | 5 | 45.2× | 6e-06 |
| protein K48-linked ubiquitination | 8 | 35.5× | 2e-08 |
| protein K63-linked ubiquitination | 5 | 35.2× | 2e-05 |
| protein polyubiquitination | 7 | 21.3× | 4e-06 |
| ubiquitin-dependent protein catabolic process | 8 | 15.6× | 4e-06 |
| protein ubiquitination | 7 | 7.6× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
84 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 64 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1405 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:218664536:C:CC | acceptor_gain | 1.0000 |
| 2:218664733:CCTCA:C | donor_loss | 1.0000 |
| 2:218664734:CTCA:C | donor_loss | 1.0000 |
| 2:218664735:TCA:T | donor_loss | 1.0000 |
| 2:218664736:CA:C | donor_loss | 1.0000 |
| 2:218664737:A:AC | donor_gain | 1.0000 |
| 2:218664738:C:CC | donor_gain | 1.0000 |
| 2:218664738:CCTG:C | donor_gain | 1.0000 |
| 2:218664772:AG:A | donor_gain | 1.0000 |
| 2:218664869:AGCTC:A | acceptor_gain | 1.0000 |
| 2:218664871:CTC:C | acceptor_gain | 1.0000 |
| 2:218664872:TC:T | acceptor_gain | 1.0000 |
| 2:218664873:CC:C | acceptor_gain | 1.0000 |
| 2:218664874:C:CC | acceptor_gain | 1.0000 |
| 2:218664874:C:T | acceptor_gain | 1.0000 |
| 2:218664875:T:G | acceptor_loss | 1.0000 |
| 2:218664886:A:AC | acceptor_gain | 1.0000 |
| 2:218664886:A:C | acceptor_gain | 1.0000 |
| 2:218665243:GCCTT:G | acceptor_gain | 1.0000 |
| 2:218665244:CCTTC:C | acceptor_gain | 1.0000 |
| 2:218665245:CTT:C | acceptor_gain | 1.0000 |
| 2:218665246:TT:T | acceptor_gain | 1.0000 |
| 2:218665247:TC:T | acceptor_loss | 1.0000 |
| 2:218665248:C:CC | acceptor_gain | 1.0000 |
| 2:218665248:CT:C | acceptor_loss | 1.0000 |
| 2:218665249:T:A | acceptor_loss | 1.0000 |
| 2:218665911:TCTA:T | donor_loss | 1.0000 |
| 2:218665912:CTACC:C | donor_loss | 1.0000 |
| 2:218665913:TACCT:T | donor_loss | 1.0000 |
| 2:218665914:A:T | donor_loss | 1.0000 |
AlphaMissense
2941 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:218665229:A:G | C198R | 0.999 |
| 2:218666176:A:G | C138R | 0.999 |
| 2:218666185:A:G | C135R | 0.999 |
| 2:218665220:A:G | C201R | 0.998 |
| 2:218666008:A:G | C161R | 0.998 |
| 2:218666026:G:C | H155D | 0.998 |
| 2:218666214:A:G | L125P | 0.998 |
| 2:218666214:A:T | L125H | 0.998 |
| 2:218666227:C:G | G121R | 0.998 |
| 2:218666227:C:T | G121R | 0.998 |
| 2:218667919:A:G | L117P | 0.998 |
| 2:218668100:A:G | L89P | 0.998 |
| 2:218668306:G:T | P51H | 0.998 |
| 2:218668648:A:G | S25P | 0.998 |
| 2:218665215:T:A | R202S | 0.997 |
| 2:218665215:T:G | R202S | 0.997 |
| 2:218665216:C:A | R202I | 0.997 |
| 2:218665216:C:G | R202T | 0.997 |
| 2:218665219:C:G | C201S | 0.997 |
| 2:218665220:A:T | C201S | 0.997 |
| 2:218666006:G:C | C161W | 0.997 |
| 2:218666015:G:C | H158Q | 0.997 |
| 2:218666015:G:T | H158Q | 0.997 |
| 2:218666017:G:C | H158D | 0.997 |
| 2:218666024:G:C | H155Q | 0.997 |
| 2:218666024:G:T | H155Q | 0.997 |
| 2:218666163:A:G | F142S | 0.997 |
| 2:218666174:G:C | C138W | 0.997 |
| 2:218666183:A:C | C135W | 0.997 |
| 2:218666184:C:G | C135S | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000024451 (2:218665470 G>A,C), RS1000055970 (2:218669337 T>C), RS1000621972 (2:218667262 TTC>T), RS1000909845 (2:218666822 T>C,G), RS1001694844 (2:218670966 G>T), RS1002075817 (2:218672267 T>A), RS1002260138 (2:218665437 G>A,C), RS1002291461 (2:218665041 C>A,T), RS1002625019 (2:218666741 T>A), RS1004086499 (2:218673660 C>G,T), RS1004288255 (2:218668936 G>A), RS1004409318 (2:218670490 T>TA), RS1004641770 (2:218670200 T>TTAA), RS1004650828 (2:218670116 G>A), RS1005432265 (2:218664261 TCC>T)
Disease associations
OMIM: gene MIM:616014 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006661_114 | Male-pattern baldness | 2.000000e-16 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
21 total (human), top 21 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| aristolochic acid I | increases expression | 1 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| pirinixic acid | decreases expression, increases activity, affects binding | 1 |
| sodium arsenite | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| cylindrospermopsin | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | increases expression | 1 |
| Caffeine | increases phosphorylation | 1 |
| Cisplatin | increases expression | 1 |
| Diethylstilbestrol | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Rotenone | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Dronabinol | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Lactic Acid | decreases expression | 1 |
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): alopecia