Gene Gene information from NCBI Gene database.
Entrez ID 55658
Gene name Ring finger protein 126
Gene symbol RNF126
Synonyms (NCBI Gene)
-
Chromosome 19
Chromosome location 19p13.3
Summary The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. [provided by RefSeq, Jul 2008]
miRNA miRNA information provided by mirtarbase database.
92
miRTarBase ID miRNA Experiments Reference
MIRT037228 hsa-miR-877-5p CLASH 23622248
MIRT469140 hsa-miR-4524b-3p PAR-CLIP 23592263
MIRT469139 hsa-miR-6873-5p PAR-CLIP 23592263
MIRT469138 hsa-miR-6847-5p PAR-CLIP 23592263
MIRT469137 hsa-miR-6777-5p PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination IEA
GO:0000724 Process Double-strand break repair via homologous recombination IDA 29670289, 30612738
GO:0005154 Function Epidermal growth factor receptor binding IEA
GO:0005515 Function Protein binding IPI 14667819, 16189514, 19549727, 23026136, 23277564, 24981174, 25416956, 26496610, 28514442, 31515488, 32814053, 33961781, 35271311
GO:0005634 Component Nucleus IDA 23026136
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615177 21151 ENSG00000070423
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BV68
Protein name E3 ubiquitin-protein ligase RNF126 (EC 2.3.2.27) (RING finger protein 126)
Protein function E3 ubiquitin-protein ligase that mediates ubiquitination oF target proteins (PubMed:23277564, PubMed:24275455, PubMed:24981174, PubMed:36563124). Depending on the associated E2 ligase, mediates 'Lys-27'-, 'Lys-29'-, 'Lys-48'- and/or 'Lys-63'-lin
PDB 2N9O , 2N9P
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14369 zinc_ribbon_9 9 40 zinc-ribbon Domain
PF13639 zf-RING_2 227 270 Ring finger domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in liver and testis. {ECO:0000269|PubMed:23026136}.
Sequence
MAEASPHPGRYFCHCCSVEIVPRLPDYICPRCESGFIEELPEETRSTENGSAPSTAPTDQ
SRPPLEHVDQHLFTLPQGYGQFAFGIFDDSFEIPTFPPGAQADDGRDPESRRERDHPSRH
RYGARQPRARLTTRRATGRHEGVPTLEGIIQQLVNGIITPATIPSLGPWGVLHSNPMDYA
WGANGLDAIITQLLNQFENTGPPPADKEKIQALPTVPVTEEHVGSGLECPVCKDDYALGE
RVRQLPCNHLFHDGCIVPWLEQHDSCPVCR
KSLTGQNTATNPPGLTGVSFSSSSSSSSSS
SPSNENATSNS
Sequence length 311
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
PROSTATE CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Breast Neoplasms Associate 29326282, 36539893
★☆☆☆☆
Found in Text Mining only
Calcinosis Cutis Associate 36539893
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Associate 26234677
★☆☆☆☆
Found in Text Mining only
Carcinoma Ovarian Epithelial Stimulate 32254065
★☆☆☆☆
Found in Text Mining only
Friedreich Ataxia Associate 28228265
★☆☆☆☆
Found in Text Mining only
Neoplasm Metastasis Associate 32254065
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 26234677, 29326282
★☆☆☆☆
Found in Text Mining only