RNF183
gene geneOn this page
Also known as MGC4734
Summary
RNF183 (ring finger protein 183, HGNC:28721) is a protein-coding gene on chromosome 9q32, encoding E3 ubiquitin-protein ligase RNF183 (Q96D59). Acts as an E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins.
Enables ubiquitin protein ligase activity. Involved in positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway; protein ubiquitination; and response to endoplasmic reticulum stress. Located in endoplasmic reticulum membrane.
Source: NCBI Gene 138065 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 33 total
- MANE Select transcript:
NM_001371237
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28721 |
| Approved symbol | RNF183 |
| Name | ring finger protein 183 |
| Location | 9q32 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC4734 |
| Ensembl gene | ENSG00000165188 |
| Ensembl biotype | protein_coding |
| OMIM | 621029 |
| Entrez | 138065 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 13 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000297894, ENST00000416588, ENST00000441031, ENST00000443976, ENST00000478493, ENST00000478815, ENST00000489339, ENST00000905342, ENST00000905343, ENST00000905344, ENST00000905345, ENST00000905346, ENST00000905347, ENST00000939773, ENST00000948601
RefSeq mRNA: 7 — MANE Select: NM_001371237
NM_001371234, NM_001371235, NM_001371236, NM_001371237, NM_001387568, NM_001387569, NM_145051
CCDS: CCDS43866
Canonical transcript exons
ENST00000489339 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001560350 | 113299572 | 113299775 |
| ENSE00001785320 | 113297093 | 113298221 |
| ENSE00001794602 | 113303056 | 113303376 |
| ENSE00001822917 | 113302195 | 113302313 |
| ENSE00001863928 | 113301672 | 113301751 |
Expression profiles
Bgee: expression breadth ubiquitous, 156 present calls, max score 98.93.
Top tissues by expression
244 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pancreatic ductal cell | CL:0002079 | 98.93 | gold quality |
| corpus epididymis | UBERON:0004359 | 89.27 | gold quality |
| kidney epithelium | UBERON:0004819 | 87.91 | gold quality |
| buccal mucosa cell | CL:0002336 | 87.77 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 79.43 | silver quality |
| caput epididymis | UBERON:0004358 | 78.39 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 77.69 | silver quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 77.43 | gold quality |
| gall bladder | UBERON:0002110 | 75.00 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 74.64 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 74.18 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 73.76 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 73.29 | gold quality |
| minor salivary gland | UBERON:0001830 | 72.59 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 72.40 | gold quality |
| esophagus mucosa | UBERON:0002469 | 72.24 | gold quality |
| kidney | UBERON:0002113 | 72.05 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 71.37 | gold quality |
| oviduct epithelium | UBERON:0004804 | 71.02 | gold quality |
| left testis | UBERON:0004533 | 70.91 | gold quality |
| endothelial cell | CL:0000115 | 70.26 | silver quality |
| right testis | UBERON:0004534 | 69.85 | gold quality |
| testis | UBERON:0000473 | 69.27 | gold quality |
| endometrium | UBERON:0001295 | 68.94 | gold quality |
| cortex of kidney | UBERON:0001225 | 68.74 | gold quality |
| mouth mucosa | UBERON:0003729 | 68.44 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 67.15 | gold quality |
| right uterine tube | UBERON:0001302 | 66.73 | gold quality |
| bronchial epithelial cell | CL:0002328 | 66.57 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 66.29 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 3.03 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
35 targeting RNF183, 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-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-12133 | 99.92 | 71.82 | 2006 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-1271-5P | 99.91 | 71.99 | 1972 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-6838-5P | 99.89 | 71.94 | 2690 |
| HSA-MIR-424-5P | 99.89 | 71.90 | 2641 |
| HSA-MIR-182-5P | 99.87 | 74.03 | 2589 |
| HSA-MIR-4530 | 99.69 | 66.47 | 1509 |
| HSA-MIR-7-5P | 99.67 | 70.53 | 1809 |
| HSA-MIR-29B-2-5P | 99.67 | 68.98 | 1726 |
| HSA-MIR-4696 | 99.48 | 67.48 | 1040 |
| HSA-MIR-888-5P | 99.30 | 70.15 | 1855 |
| HSA-MIR-508-3P | 98.66 | 69.62 | 887 |
| HSA-MIR-31-5P | 98.58 | 68.35 | 1239 |
| HSA-MIR-3928-5P | 98.50 | 67.48 | 980 |
| HSA-MIR-6806-3P | 98.50 | 67.31 | 980 |
Literature-anchored findings (GeneRIF, showing 9)
- RNF183, which is negatively regulated by miR-7, is a novel regulator promoting intestinal inflammation by increasing the ubiquitination and degradation of IkappaBalpha, thereby inducing NF-kappaB activation. The interaction between RNF183-mediated ubiquitination and miRNA may be an important novel epigenetic mechanism in the pathogenesis of inflammatory bowel disease. (PMID:26818663)
- The RNF183-IL-8 axis is responsible for the resistance of colorectal cancer (CRC)cells to the MEK1/2 inhibitor trametinib and may serve as a candidate target for combined therapy for CRC. (PMID:28756770)
- RNF183 promotes proliferation and metastasis of colorectal cancer cells via activation of NF-kappaB-IL-8 axis (PMID:28796265)
- Sec16A also stabilized the interacting ubiquitin ligase RNF152, which localizes to the lysosome and has structural similarity with RNF183 (PMID:29300766)
- RNF183 plays an important role in executing programmed cell death upon prolonged endoplasmic reticulum stress, likely by inducing apoptosis through Bcl-xL.RNF183 ubiquitinates Bcl-xL. (PMID:29507230)
- Na, K-ATPase alpha1 and beta1 subunits are degraded in lysosomes by RNF183-mediated ubiquitination of beta1 subunit. (PMID:31732153)
- The Role of Tissue-Specific Ubiquitin Ligases, RNF183, RNF186, RNF182 and RNF152, in Disease and Biological Function. (PMID:32486221)
- Cathepsin D as a potential therapeutic target to enhance anticancer drug-induced apoptosis via RNF183-mediated destabilization of Bcl-xL in cancer cells. (PMID:35121737)
- The YTHDC1/GLUT3/RNF183 axis forms a positive feedback loop that modulates glucose metabolism and bladder cancer progression. (PMID:37258572)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Rnf183 | ENSMUSG00000063851 |
| rattus_norvegicus | Rnf183 | ENSRNOG00000064866 |
Paralogs (3): RNF208 (ENSG00000212864), RNF223 (ENSG00000237330), RNF225 (ENSG00000269855)
Protein
Protein identifiers
E3 ubiquitin-protein ligase RNF183 — Q96D59 (reviewed: Q96D59)
All UniProt accessions (1): Q96D59
UniProt curated annotations — full annotation on UniProt →
Function. Acts as an E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. Triggers apoptosis in response to prolonged ER stress by mediating the polyubiquitination and subsequent proteasomal degradation of BCL2L1. May collaborate with FATE1 to restrain BIK protein levels thus regulating apoptotic signaling.
Subunit / interactions. Interacts with FATE1. Interacts with SEC16A. Interacts with BCL2L1.
Subcellular location. Endoplasmic reticulum membrane. Endoplasmic reticulum. Golgi apparatus. cis-Golgi network membrane. Lysosome membrane.
Tissue specificity. Kidney and testis.
Post-translational modifications. Autoubiquitinated (in vitro).
Induction. Up-regulated by ER stress in an ERN1-dependent manner.
Pathway. Protein modification; protein ubiquitination.
RefSeq proteins (7): NP_001358163, NP_001358164, NP_001358165, NP_001358166, NP_001374497, NP_001374498, NP_659488 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001841 | Znf_RING | Domain |
| IPR013083 | Znf_RING/FYVE/PHD | Homologous_superfamily |
| IPR017907 | Znf_RING_CS | Conserved_site |
| IPR051435 | RING_finger_E3_ubiq-ligases | Family |
UniProt features (14 total): mutagenesis site 7, topological domain 2, sequence variant 2, chain 1, transmembrane region 1, zinc finger region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96D59-F1 | 67.53 | 0.07 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (7):
| Position | Phenotype |
|---|---|
| 28 | loss of autoubiquitination but no effect on ubiquitination of bcl2l1; when associated with r-101 and r-105. |
| 59 | abolishes autoubiquitination; when associated with a-13. |
| 101 | loss of autoubiquitination but no effect on ubiquitination of bcl2l1; when associated with r-28 and r-105. |
| 105 | loss of autoubiquitination but no effect on ubiquitination of bcl2l1; when associated with r-28 and r-101. |
| 13 | abolishes autoubiquitination; when associated with a-59. |
| 13 | loss of autoubiquitination and reduced ubiquitination of bcl2l1; when associated with s-16. |
| 16 | loss of autoubiquitination and reduced ubiquitination of bcl2l1; when associated with s-13. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 69 (showing top):
GOCC_VACUOLAR_MEMBRANE, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, GOBP_APOPTOTIC_SIGNALING_PATHWAY, KOYAMA_SEMA3B_TARGETS_UP, GOBP_REGULATION_OF_ENDOPLASMIC_RETICULUM_STRESS_INDUCED_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, GOBP_PROTEIN_AUTOUBIQUITINATION, HNF4_DR1_Q3, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_PROTEIN_POLYUBIQUITINATION, GOBP_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS, GOBP_POSITIVE_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY
GO Biological Process (6): protein polyubiquitination (GO:0000209), apoptotic process (GO:0006915), protein ubiquitination (GO:0016567), response to endoplasmic reticulum stress (GO:0034976), protein autoubiquitination (GO:0051865), positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)
GO Molecular Function (5): zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)
GO Cellular Component (7): lysosomal membrane (GO:0005765), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), cis-Golgi network membrane (GO:0033106), lysosome (GO:0005764), Golgi apparatus (GO:0005794), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein ubiquitination | 2 |
| cytoplasm | 2 |
| endomembrane system | 2 |
| intracellular membrane-bounded organelle | 2 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| protein modification by small protein conjugation | 1 |
| cellular response to stress | 1 |
| intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress | 1 |
| regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway | 1 |
| positive regulation of response to endoplasmic reticulum stress | 1 |
| positive regulation of intrinsic apoptotic signaling pathway | 1 |
| transition metal ion binding | 1 |
| ubiquitin-protein transferase activity | 1 |
| ubiquitin-like protein ligase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| lysosome | 1 |
| lytic vacuole membrane | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| cis-Golgi network | 1 |
| bounding membrane of organelle | 1 |
| lytic vacuole | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
416 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RNF183 | FATE1 | Q969F0 | 747 |
| RNF183 | RNF186 | Q9NXI6 | 620 |
| RNF183 | RNF150 | Q9ULK6 | 566 |
| RNF183 | TRIM31 | Q9BZY9 | 507 |
| RNF183 | RNF175 | Q8N4F7 | 490 |
| RNF183 | RNFT1 | Q5M7Z0 | 478 |
| RNF183 | RNFT2 | Q96EX2 | 467 |
| RNF183 | ZNRF4 | Q8WWF5 | 464 |
| RNF183 | RNF130 | Q86XS8 | 431 |
| RNF183 | RNF144B | Q7Z419 | 427 |
| RNF183 | RNF152 | Q8N8N0 | 425 |
| RNF183 | RMND5B | Q96G75 | 406 |
| RNF183 | RNF13 | O43567 | 403 |
| RNF183 | RNF144A | P50876 | 402 |
| RNF183 | TMEM129 | A0AVI4 | 394 |
IntAct
139 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FATE1 | RNF183 | psi-mi:“MI:0915”(physical association) | 0.670 |
| RNF183 | TAX1BP3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GOPC | RNF183 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TAX1BP3 | RNF183 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF183 | GOPC | psi-mi:“MI:0915”(physical association) | 0.560 |
| UBE2K | RNF183 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF183 | UBE2W | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF183 | A2M | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF183 | APBB2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF183 | ERCC8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF183 | TPP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF183 | DBH | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF183 | DCTN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF183 | DNM2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DR1 | RNF183 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF183 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| FXN | RNF183 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF183 | GLE1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GTF2B | RNF183 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HEXB | RNF183 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HOXD10 | RNF183 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF183 | HSPB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF183 | MECP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF183 | NDUFV2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NF2 | RNF183 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (60): RNF183 (Two-hybrid), RNF183 (Two-hybrid), RNF183 (Two-hybrid), RNF183 (Two-hybrid), RNF183 (Two-hybrid), RNF183 (Two-hybrid), RNF183 (Two-hybrid), NFKBIA (Affinity Capture-Western), RNF183 (Biochemical Activity), BCL2L1 (Affinity Capture-Western), RNF183 (Affinity Capture-Western), BCL2L1 (Reconstituted Complex), BCL2 (Reconstituted Complex), RNF183 (Biochemical Activity), SEC16A (Affinity Capture-Western)
ESM2 similar proteins: A6NCL7, A6NCQ9, A6QP29, A6QQV9, B1AVH7, B5DFA1, D2H0G5, D2H6Z0, D2H788, D3ZBM4, D4A723, E1C2W7, O95153, Q0QWG9, Q3SWY0, Q3T0Y9, Q3U0L2, Q3UV31, Q3V3A7, Q5RF77, Q60943, Q6INB3, Q6PGG2, Q7TNF8, Q7Z465, Q80TI1, Q810L3, Q8BG47, Q8BRJ3, Q8BXP5, Q8C0R7, Q8C432, Q8CEF8, Q8HYZ0, Q8N0U2, Q8N6D2, Q8N8N0, Q8NC24, Q8QZS5, Q8TED9
Diamond homologs: A0A7I2V3R4, D2H788, D3ZBM4, O70277, O75382, P0DH78, Q3SWY0, Q3UIW8, Q58EC8, Q68EV7, Q6INB3, Q8C432, Q8N6D2, Q8QZS5, Q96D59, Q9BRZ2, Q9R1R2, D2H6Z0, D4A723, E1C2W7, Q03601, Q13049, Q6GND7, Q6NRD3, Q8BG47, Q8CH72, Q8N8N0, Q9D241, E1BD59, E7ERA6, M0QZC1, Q3UV31, Q5ZMD4, Q6IMG5, Q6VVB1, Q8BR37, Q8IWR1, Q9D7D1, A6NCQ9, Q8CEF8
SIGNOR signaling
4 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| Ub:E2 | “up-regulates activity” | RNF183 | ubiquitination |
| RNF183 | “down-regulates quantity by destabilization” | TNFRSF10B | polyubiquitination |
| RNF183 | “down-regulates quantity by destabilization” | ATP1B1 | polyubiquitination |
| RNF183 | “down-regulates quantity by destabilization” | BCL2L1 | ubiquitination |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 45 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| adult locomotory behavior | 6 | 40.1× | 5e-06 |
| negative regulation of neuron apoptotic process | 5 | 12.3× | 8e-03 |
| positive regulation of apoptotic process | 6 | 7.6× | 1e-02 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
33 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 30 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
254 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:113298218:CGTC:C | acceptor_gain | 0.9900 |
| 9:113298226:C:CT | acceptor_gain | 0.9900 |
| 9:113298227:A:T | acceptor_gain | 0.9900 |
| 9:113298218:CGTCC:C | acceptor_loss | 0.9800 |
| 9:113298219:GTCC:G | acceptor_loss | 0.9800 |
| 9:113298222:CTG:C | acceptor_loss | 0.9800 |
| 9:113298223:T:A | acceptor_loss | 0.9800 |
| 9:113298958:ACC:A | donor_loss | 0.9700 |
| 9:113298222:C:CC | acceptor_gain | 0.9600 |
| 9:113298220:TC:T | acceptor_gain | 0.9300 |
| 9:113298221:CC:C | acceptor_gain | 0.9300 |
| 9:113298219:GTC:G | acceptor_gain | 0.9200 |
| 9:113298218:C:CT | acceptor_gain | 0.8900 |
| 9:113298217:ACGTC:A | acceptor_gain | 0.8800 |
| 9:113298296:C:CC | acceptor_gain | 0.8400 |
| 9:113298958:A:AC | donor_gain | 0.8300 |
| 9:113298959:C:CC | donor_gain | 0.8300 |
| 9:113298219:GTCCT:G | acceptor_gain | 0.7900 |
| 9:113298291:GTGTT:G | acceptor_gain | 0.7900 |
| 9:113298222:C:T | acceptor_gain | 0.7600 |
| 9:113298220:TCCTG:T | acceptor_gain | 0.7500 |
| 9:113298995:C:CT | donor_gain | 0.7500 |
| 9:113298996:T:TT | donor_gain | 0.7500 |
| 9:113299078:AGGGG:A | donor_gain | 0.7500 |
| 9:113298219:G:T | acceptor_gain | 0.7400 |
| 9:113298292:TGTT:T | acceptor_gain | 0.7400 |
| 9:113298222:CT:C | acceptor_gain | 0.7200 |
| 9:113298927:C:CA | donor_gain | 0.7000 |
| 9:113299031:C:A | donor_gain | 0.7000 |
| 9:113298224:G:C | acceptor_loss | 0.6900 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000225968 (9:113304003 C>T), RS1000528155 (9:113304899 T>A,G), RS1000564960 (9:113302527 A>T), RS1000778934 (9:113302190 C>T), RS1001305469 (9:113299625 T>C), RS1001349772 (9:113303532 A>G), RS1001478872 (9:113297229 T>G), RS1001570612 (9:113297474 C>T), RS1001799174 (9:113303151 G>A), RS1003574038 (9:113300596 G>A,T), RS1003850023 (9:113299295 A>C), RS1003873825 (9:113301680 G>A,C,T), RS1004575593 (9:113297138 C>G), RS1004650776 (9:113297434 CGTTTTTTT>C), RS1004758272 (9:113304437 G>A)
Disease associations
OMIM: gene MIM:621029 | 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 |
|---|---|---|
| GCST90000025_419 | Appendicular lean mass | 2.000000e-15 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004980 | appendicular lean mass |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
17 total (human), top 17 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Resveratrol | decreases expression, affects cotreatment | 2 |
| Benzo(a)pyrene | affects methylation, increases expression | 2 |
| propionaldehyde | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Acetaminophen | decreases expression | 1 |
| Cadmium | decreases expression | 1 |
| Copper | affects cotreatment, decreases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Estradiol | increases expression | 1 |
| Malathion | increases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Testosterone | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Triclosan | increases expression | 1 |
| Cyclosporine | decreases methylation | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Copper Sulfate | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.