RNF10
gene geneOn this page
Also known as KIAA0262RIE2
Summary
RNF10 (ring finger protein 10, HGNC:10055) is a protein-coding gene on chromosome 12q24.31, encoding E3 ubiquitin-protein ligase RNF10 (Q8N5U6). E3 ubiquitin-protein ligase that catalyzes monoubiquitination of 40S ribosomal proteins RPS2/us5 and RPS3/us3 in response to ribosome stalling.
The protein encoded by this gene contains a ring finger motif, which is known to be involved in protein-protein interactions. The specific function of this protein has not yet been determined. EST data suggests the existence of multiple alternatively spliced transcript variants, however, their full length nature is not known.
Source: NCBI Gene 9921 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 124 total
- Druggable target: yes
- MANE Select transcript:
NM_014868
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10055 |
| Approved symbol | RNF10 |
| Name | ring finger protein 10 |
| Location | 12q24.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0262, RIE2 |
| Ensembl gene | ENSG00000022840 |
| Ensembl biotype | protein_coding |
| OMIM | 615998 |
| Entrez | 9921 |
Gene structure
Transcript identifiers
Ensembl transcripts: 25 — 9 protein_coding, 6 retained_intron, 6 protein_coding_CDS_not_defined, 4 nonsense_mediated_decay
ENST00000325954, ENST00000366112, ENST00000413266, ENST00000535395, ENST00000535417, ENST00000535470, ENST00000536869, ENST00000537376, ENST00000537740, ENST00000537997, ENST00000538254, ENST00000538796, ENST00000539486, ENST00000540046, ENST00000542207, ENST00000542438, ENST00000542701, ENST00000543578, ENST00000543675, ENST00000543757, ENST00000544124, ENST00000544805, ENST00000545419, ENST00000546262, ENST00000551139
RefSeq mRNA: 2 — MANE Select: NM_014868
NM_001330474, NM_014868
CCDS: CCDS81746, CCDS9201
Canonical transcript exons
ENST00000325954 — 17 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001111618 | 120563347 | 120563623 |
| ENSE00001128109 | 120557546 | 120557682 |
| ENSE00001300954 | 120534356 | 120534968 |
| ENSE00002337700 | 120576590 | 120577588 |
| ENSE00003468945 | 120560726 | 120560886 |
| ENSE00003485301 | 120565072 | 120565189 |
| ENSE00003488989 | 120554718 | 120554808 |
| ENSE00003506784 | 120566825 | 120566980 |
| ENSE00003594401 | 120557282 | 120557466 |
| ENSE00003601576 | 120575631 | 120575688 |
| ENSE00003612200 | 120562945 | 120563070 |
| ENSE00003618976 | 120552499 | 120552698 |
| ENSE00003643213 | 120563810 | 120563943 |
| ENSE00003658274 | 120565428 | 120565529 |
| ENSE00003660228 | 120546405 | 120546601 |
| ENSE00003661539 | 120571191 | 120571291 |
| ENSE00003680623 | 120575792 | 120575950 |
Expression profiles
Bgee: expression breadth ubiquitous, 290 present calls, max score 99.16.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 185.7230 / max 4252.6792, expressed in 1826 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 128354 | 174.8516 | 1825 |
| 128355 | 9.2242 | 1781 |
| 128356 | 1.6472 | 863 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left testis | UBERON:0004533 | 99.16 | gold quality |
| right testis | UBERON:0004534 | 99.11 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 99.07 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 98.99 | gold quality |
| gastrocnemius | UBERON:0001388 | 98.92 | gold quality |
| sural nerve | UBERON:0015488 | 98.92 | gold quality |
| cortical plate | UBERON:0005343 | 98.84 | gold quality |
| stromal cell of endometrium | CL:0002255 | 98.83 | gold quality |
| adenohypophysis | UBERON:0002196 | 98.83 | gold quality |
| tibial nerve | UBERON:0001323 | 98.80 | gold quality |
| colonic epithelium | UBERON:0000397 | 98.79 | gold quality |
| ventricular zone | UBERON:0003053 | 98.79 | gold quality |
| muscle of leg | UBERON:0001383 | 98.76 | gold quality |
| blood | UBERON:0000178 | 98.73 | gold quality |
| lower esophagus | UBERON:0013473 | 98.73 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 98.73 | gold quality |
| metanephros cortex | UBERON:0010533 | 98.71 | gold quality |
| ganglionic eminence | UBERON:0004023 | 98.69 | gold quality |
| right atrium auricular region | UBERON:0006631 | 98.67 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 98.67 | gold quality |
| right lung | UBERON:0002167 | 98.63 | gold quality |
| apex of heart | UBERON:0002098 | 98.61 | gold quality |
| left adrenal gland | UBERON:0001234 | 98.57 | gold quality |
| right adrenal gland | UBERON:0001233 | 98.55 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 98.55 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 98.55 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 98.54 | gold quality |
| body of pancreas | UBERON:0001150 | 98.54 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 98.54 | gold quality |
| skin of leg | UBERON:0001511 | 98.53 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9221 | yes | 14.06 |
| E-MTAB-10137 | no | 267.33 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): MEOX2
Literature-anchored findings (GeneRIF, showing 6)
- MEOX2 and Meox2 binding to RNF10 protein was characterized. (PMID:16335786)
- RNF10 is a trans-acting protein regulating MAG expression and is required for myelin formation. (PMID:18941509)
- CYB5A, which has a role in stearyl-CoA-desaturase activity, and RNF10, with an unknown role in weight regulating pathways, associated with adiposity and nominally increased the risk for T2D in American Indians. (PMID:24151200)
- Reduced RING finger protein 10 expression in macrophages is associated with aging-related inflammation. (PMID:33249776)
- The E3 ubiquitin ligase RNF10 modifies 40S ribosomal subunits of ribosomes compromised in translation. (PMID:34348161)
- CircRNA RNF10 inhibits tumorigenicity by targeting miR-942-5p/GOLIM4 axis in breast cancer. (PMID:36054164)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rnf10 | ENSDARG00000079687 |
| mus_musculus | Rnf10 | ENSMUSG00000041740 |
| rattus_norvegicus | Rnf10 | ENSRNOG00000001172 |
| drosophila_melanogaster | CG12099 | FBGN0035232 |
Protein
Protein identifiers
E3 ubiquitin-protein ligase RNF10 — Q8N5U6 (reviewed: Q8N5U6)
Alternative names: RING finger protein 10
All UniProt accessions (13): A0A024RBP0, A0A0G2JKT9, Q8N5U6, F5H3A4, F5H510, F5H5P6, F5H5Z1, H0YF69, H0YFN9, H0YFQ9, H0YG28, H0YGL7, H0YGX5
UniProt curated annotations — full annotation on UniProt →
Function. E3 ubiquitin-protein ligase that catalyzes monoubiquitination of 40S ribosomal proteins RPS2/us5 and RPS3/us3 in response to ribosome stalling. Part of a ribosome quality control that takes place when ribosomes have stalled during translation initiation (iRQC) or elongation. The ribosome quality control is activated in response to ribosome subunit imbalance, amino acid starvation or downstream the EIF2AK4/GCN2-mediated integrated stress response (ISR). RNF10 acts by mediating monoubiquitination of RPS2/us5 and RPS3/us3: monoubiquitinated RPS2/us5 and RPS3/us3 are then recognized by RIOK3 kinase, leading to 18S non-functional rRNA decay and degradation of the 40S ribosomal subunit. The action of RNF10 in iRQC is counteracted by USP10.
Subunit / interactions. Interacts with MEOX2.
Subcellular location. Cytoplasm. Nucleus.
Induction. Regulated at the translational level in response to amino acid starvation. In the absence of stress, ribosomes re-initiate translation at an inhibitory open reading frame (uORF) upstream of the RNF10 transcript, which precludes RNF10 translation. In response to stress, ribosomes bypass the inhibitory uORF and re-initiate translation at the RNF10 coding sequence.
Pathway. Protein modification; protein ubiquitination.
Similarity. Belongs to the RNF10 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8N5U6-1 | 1 | yes |
| Q8N5U6-2 | 2 |
RefSeq proteins (2): NP_001317403, NP_055683* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001841 | Znf_RING | Domain |
| IPR013083 | Znf_RING/FYVE/PHD | Homologous_superfamily |
| IPR017907 | Znf_RING_CS | Conserved_site |
| IPR018957 | Znf_C3HC4_RING-type | Domain |
| IPR039739 | MAG2/RNF10 | Family |
Pfam: PF00097
UniProt features (23 total): compositionally biased region 7, region of interest 5, modified residue 3, mutagenesis site 3, sequence variant 2, chain 1, zinc finger region 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N5U6-F1 | 65.67 | 0.33 |
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 (3): 5, 110, 128
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 225–228 | abolished e3 ubiquitin-protein ligase activity and ability to monoubiquitinate rps2/us5 and rps3/us3. |
| 225 | abolished e3 ubiquitin-protein ligase activity and ability to monoubiquitinate rps2/us5 and rps3/us3. |
| 228 | abolished e3 ubiquitin-protein ligase activity and ability to monoubiquitinate rps2/us5 and rps3/us3. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 197 (showing top):
GOBP_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT, PAX4_01, GOBP_NEGATIVE_REGULATION_OF_GLIOGENESIS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_MYELINATION, GOBP_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, CHANDRAN_METASTASIS_DN, GOBP_NEGATIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, GOBP_CELL_CELL_SIGNALING, BROWNE_HCMV_INFECTION_48HR_DN, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GOBP_REGULATION_OF_GLIAL_CELL_PROLIFERATION, GOBP_NEGATIVE_REGULATION_OF_GLIAL_CELL_PROLIFERATION, GOBP_ENSHEATHMENT_OF_NEURONS
GO Biological Process (9): protein monoubiquitination (GO:0006513), negative regulation of Schwann cell proliferation (GO:0010626), positive regulation of myelination (GO:0031643), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944), protein autoubiquitination (GO:0051865), postsynapse to nucleus signaling pathway (GO:0099527), ribosome-associated ubiquitin-dependent protein catabolic process (GO:1990116), protein ubiquitination (GO:0016567)
GO Molecular Function (7): transcription cis-regulatory region binding (GO:0000976), zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), DNA binding (GO:0003677), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)
GO Cellular Component (5): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosolic ribosome (GO:0022626), glutamatergic synapse (GO:0098978), extrinsic component of postsynaptic density membrane (GO:0099147)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein ubiquitination | 2 |
| regulation of Schwann cell proliferation | 1 |
| Schwann cell proliferation | 1 |
| negative regulation of glial cell proliferation | 1 |
| regulation of myelination | 1 |
| positive regulation of nervous system process | 1 |
| myelination | 1 |
| positive regulation of cellular process | 1 |
| DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| positive regulation of DNA-templated transcription | 1 |
| postsynaptic signal transduction | 1 |
| proteasome-mediated ubiquitin-dependent protein catabolic process | 1 |
| protein modification by small protein conjugation | 1 |
| transcription regulatory region nucleic acid binding | 1 |
| sequence-specific double-stranded DNA binding | 1 |
| transition metal ion binding | 1 |
| ubiquitin-protein transferase activity | 1 |
| ubiquitin-like protein ligase activity | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| cytosol | 1 |
| ribosome | 1 |
| synapse | 1 |
| postsynaptic density membrane | 1 |
| extrinsic component of postsynaptic specialization membrane | 1 |
Protein interactions and networks
STRING
1273 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RNF10 | AKIRIN2 | Q53H80 | 555 |
| RNF10 | GRIN2A | Q12879 | 496 |
| RNF10 | GRIFIN | A4D1Z8 | 480 |
| RNF10 | AP4E1 | Q9UPM8 | 444 |
| RNF10 | COQ5 | Q5HYK3 | 434 |
| RNF10 | DRAXIN | Q8NBI3 | 427 |
| RNF10 | COPS5 | Q92905 | 420 |
| RNF10 | DPH6 | Q7L8W6 | 415 |
| RNF10 | BICDL1 | Q6ZP65 | 408 |
| RNF10 | CNPY2 | Q9Y2B0 | 399 |
| RNF10 | ABHD17A | Q96GS6 | 375 |
| RNF10 | A0A2R8Y4M4 | A0A2R8Y4M4 | 366 |
| RNF10 | ACTR10 | Q9NZ32 | 351 |
| RNF10 | RNFT1 | Q5M7Z0 | 345 |
| RNF10 | RNF208 | Q9H0X6 | 335 |
IntAct
119 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NCOA4 | FTL | psi-mi:“MI:0914”(association) | 0.790 |
| PSMD2 | PSMD11 | psi-mi:“MI:0914”(association) | 0.730 |
| RNF10 | UBE2D1 | psi-mi:“MI:0915”(physical association) | 0.620 |
| UBE2D2 | RNF10 | psi-mi:“MI:0915”(physical association) | 0.620 |
| YWHAH | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.570 |
| RNF10 | CASP6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF10 | DMWD | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF10 | HIP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF10 | HSPB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF10 | LAMP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PRKN | RNF10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RAN | RNF10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF10 | WFS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF10 | CLSTN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF10 | KIF1B | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF10 | RNF11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PRPF40A | RNF10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF10 | COQ8A | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF10 | SPRED1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SNCA | RNF10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TARDBP | RNF10 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (461): RNF10 (Affinity Capture-RNA), RNF10 (Affinity Capture-RNA), RNF10 (Affinity Capture-RNA), RNF10 (Affinity Capture-RNA), RNF10 (Affinity Capture-MS), RNF10 (Affinity Capture-MS), RNF10 (Affinity Capture-MS), RNF10 (Affinity Capture-MS), RNF10 (Affinity Capture-MS), RNF10 (Affinity Capture-MS), RNF10 (Affinity Capture-MS), RNF10 (Reconstituted Complex), RNF10 (Affinity Capture-RNA), RNF10 (Affinity Capture-MS), RNF10 (Affinity Capture-RNA)
ESM2 similar proteins: A0A0G2L7I0, A0A0R4IWG9, A0JMK9, A5D979, B0BLU1, D3ZVU1, F6UH96, G3X912, O70445, O88700, P54132, P59110, Q03111, Q0VBD2, Q1LVK9, Q22557, Q24558, Q24595, Q28E45, Q5EAW4, Q5I2W8, Q5R1T0, Q5SPR8, Q5XI59, Q6A037, Q6DJS0, Q6INS5, Q6P2L6, Q6XV80, Q6ZPI0, Q71M44, Q7KW09, Q7L590, Q7T308, Q7ZVP1, Q7ZXG4, Q801E2, Q803U7, Q80Z32, Q8AXF4
Diamond homologs: A0A1L8FG46, A0A1L8FM16, A2XW69, A2ZAC2, B1AUE5, G2Q0E2, O35445, O54952, O60106, O64425, O74563, O77666, P38398, P40072, P48754, P62603, P87176, P93030, Q00940, Q08E13, Q09463, Q12899, Q14258, Q14527, Q1XHT8, Q32NQ8, Q336R3, Q3UIW5, Q4FE47, Q54S31, Q568Y3, Q5M807, Q5RFK9, Q5XI59, Q5ZIR9, Q6J6I8, Q6J6I9, Q6J6J0, Q6P9F5, Q6PC78
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| Ub:E2 | “up-regulates activity” | RNF10 | ubiquitination |
| RNF10 | “up-regulates activity” | MEOX2 | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 90 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 |
|---|---|---|---|
| TICAM1, RIP1-mediated IKK complex recruitment | 5 | 45.5× | 1e-05 |
| Synthesis of active ubiquitin: roles of E1 and E2 enzymes | 8 | 44.6× | 2e-09 |
| IKK complex recruitment mediated by RIP1 | 5 | 37.6× | 3e-05 |
| HSF1 activation | 5 | 28.8× | 8e-05 |
| PINK1-PRKN Mediated Mitophagy | 5 | 27.0× | 8e-05 |
| Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha | 6 | 17.9× | 8e-05 |
| E3 ubiquitin ligases ubiquitinate target proteins | 6 | 17.6× | 8e-05 |
| Maturation of DENV proteins | 5 | 16.0× | 4e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| protein K11-linked ubiquitination | 8 | 38.2× | 1e-08 |
| protein monoubiquitination | 7 | 29.4× | 5e-07 |
| protein K48-linked ubiquitination | 11 | 22.6× | 1e-09 |
| protein K63-linked ubiquitination | 6 | 19.6× | 7e-05 |
| protein autoubiquitination | 5 | 14.3× | 2e-03 |
| protein polyubiquitination | 10 | 14.1× | 4e-07 |
| ubiquitin-dependent protein catabolic process | 12 | 10.9× | 2e-07 |
| proteasome-mediated ubiquitin-dependent protein catabolic process | 10 | 6.4× | 4e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
124 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 95 |
| Likely benign | 4 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2916 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:120534964:GAGCG:G | donor_gain | 1.0000 |
| 12:120534966:GCG:G | donor_gain | 1.0000 |
| 12:120534968:GGTA:G | donor_loss | 1.0000 |
| 12:120534969:G:A | donor_loss | 1.0000 |
| 12:120534969:G:GG | donor_gain | 1.0000 |
| 12:120534970:T:A | donor_loss | 1.0000 |
| 12:120546396:T:A | acceptor_gain | 1.0000 |
| 12:120546400:TTCA:T | acceptor_loss | 1.0000 |
| 12:120546401:TCA:T | acceptor_loss | 1.0000 |
| 12:120546402:CA:C | acceptor_loss | 1.0000 |
| 12:120546403:A:AG | acceptor_gain | 1.0000 |
| 12:120546403:AGAT:A | acceptor_gain | 1.0000 |
| 12:120546403:AGATG:A | acceptor_gain | 1.0000 |
| 12:120546404:G:GG | acceptor_gain | 1.0000 |
| 12:120546404:GA:G | acceptor_gain | 1.0000 |
| 12:120546404:GAT:G | acceptor_gain | 1.0000 |
| 12:120546404:GATG:G | acceptor_gain | 1.0000 |
| 12:120546404:GATGG:G | acceptor_gain | 1.0000 |
| 12:120546586:TGG:T | donor_gain | 1.0000 |
| 12:120546599:GAG:G | donor_gain | 1.0000 |
| 12:120546600:AGG:A | donor_loss | 1.0000 |
| 12:120546601:GGTA:G | donor_loss | 1.0000 |
| 12:120546603:T:A | donor_loss | 1.0000 |
| 12:120552620:G:GT | donor_gain | 1.0000 |
| 12:120552699:G:GG | donor_gain | 1.0000 |
| 12:120554714:CTA:C | acceptor_loss | 1.0000 |
| 12:120554715:TA:T | acceptor_loss | 1.0000 |
| 12:120554716:A:AG | acceptor_gain | 1.0000 |
| 12:120554716:A:AT | acceptor_loss | 1.0000 |
| 12:120554716:AGCT:A | acceptor_gain | 1.0000 |
AlphaMissense
5350 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:120552572:T:C | L143S | 1.000 |
| 12:120554790:G:C | W209C | 1.000 |
| 12:120554790:G:T | W209C | 1.000 |
| 12:120557309:T:C | C225R | 1.000 |
| 12:120557423:T:C | C263R | 1.000 |
| 12:120552575:T:C | L144S | 0.999 |
| 12:120552580:T:C | F146L | 0.999 |
| 12:120552581:T:C | F146S | 0.999 |
| 12:120552582:C:A | F146L | 0.999 |
| 12:120552582:C:G | F146L | 0.999 |
| 12:120552685:T:C | F181L | 0.999 |
| 12:120552687:T:A | F181L | 0.999 |
| 12:120552687:T:G | F181L | 0.999 |
| 12:120552694:G:C | A184P | 0.999 |
| 12:120554726:T:C | F188S | 0.999 |
| 12:120554788:T:A | W209R | 0.999 |
| 12:120554788:T:C | W209R | 0.999 |
| 12:120557310:G:A | C225Y | 0.999 |
| 12:120557311:C:G | C225W | 0.999 |
| 12:120557316:T:A | I227K | 0.999 |
| 12:120557318:T:C | C228R | 0.999 |
| 12:120557320:C:G | C228W | 0.999 |
| 12:120557354:T:C | C240R | 0.999 |
| 12:120557358:G:A | G241E | 0.999 |
| 12:120557360:C:G | H242D | 0.999 |
| 12:120557362:C:A | H242Q | 0.999 |
| 12:120557362:C:G | H242Q | 0.999 |
| 12:120557369:T:C | C245R | 0.999 |
| 12:120557370:G:A | C245Y | 0.999 |
| 12:120557371:C:G | C245W | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000027673 (12:120535007 C>T), RS1000171510 (12:120563320 C>G), RS1000206811 (12:120554160 C>T), RS1000426729 (12:120548559 G>A), RS1000494847 (12:120571088 G>A,T), RS1000544782 (12:120572346 A>G,T), RS1000594196 (12:120556321 T>G), RS1000615484 (12:120566634 T>C), RS1000648201 (12:120566354 T>C), RS1000770465 (12:120572839 G>A), RS1000779305 (12:120553469 C>G), RS1000842820 (12:120560371 C>T), RS1000849733 (12:120544151 C>G,T), RS1000880692 (12:120543776 G>C), RS1000911089 (12:120547752 T>G)
Disease associations
OMIM: gene MIM:615998 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001688_8 | Type 1 diabetes nephropathy | 2.000000e-06 |
| GCST003453_12 | Chronotype | 3.000000e-09 |
| GCST004619_72 | Reticulocyte fraction of red cells | 7.000000e-69 |
| GCST009310_35 | Sensorimotor dexterity | 2.000000e-06 |
| GCST010796_2391 | Electrocardiogram morphology (amplitude at temporal datapoints) | 1.000000e-09 |
| GCST010796_2392 | Electrocardiogram morphology (amplitude at temporal datapoints) | 4.000000e-09 |
| GCST010796_2393 | Electrocardiogram morphology (amplitude at temporal datapoints) | 1.000000e-08 |
| GCST90002404_145 | Red cell distribution width | 3.000000e-11 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007986 | reticulocyte count |
| EFO:0008354 | cognitive function measurement |
| EFO:0004327 | electrocardiography |
| EFO:0009188 | Red cell distribution width |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067323 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases abundance, increases expression | 4 |
| bisphenol A | affects expression, decreases methylation | 2 |
| cobaltous chloride | increases expression | 2 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation, increases expression | 2 |
| Arsenic | increases abundance, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | increases oxidation, increases abundance, affects cotreatment | 1 |
| uranyl acetate | affects expression | 1 |
| beta-lapachone | decreases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| ciglitazone | affects binding, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| abrine | increases expression | 1 |
| Acrolein | increases oxidation, increases abundance, affects cotreatment | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Ozone | increases abundance, affects cotreatment, increases oxidation | 1 |
| Smoke | decreases expression | 1 |
| Dronabinol | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Uranium | affects expression | 1 |
| Urethane | increases expression | 1 |
| Particulate Matter | increases abundance, increases expression | 1 |
| Volatile Organic Compounds | affects cotreatment, increases oxidation | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5652272 | Binding | Binding affinity to human RNF10 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3G3 | Abcam HEK293T RNF10 KO | Transformed cell line | Female |
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): diabetic kidney disease