Gene Gene information from NCBI Gene database.
Entrez ID 6048
Gene name Ring finger protein 5
Gene symbol RNF5
Synonyms (NCBI Gene)
RING5RMA1
Chromosome 6
Chromosome location 6p21.32
Summary The protein encoded by this gene contains a RING finger, which is a motif known to be involved in protein-protein interactions. This protein is a membrane-bound ubiquitin ligase. It can regulate cell motility by targeting paxillin ubiquitination and alter
miRNA miRNA information provided by mirtarbase database.
130
miRTarBase ID miRNA Experiments Reference
MIRT042288 hsa-miR-484 CLASH 23622248
MIRT1313522 hsa-let-7a CLIP-seq
MIRT1313523 hsa-let-7b CLIP-seq
MIRT1313524 hsa-let-7c CLIP-seq
MIRT1313525 hsa-let-7d CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
GO ID Ontology Definition Evidence Reference
GO:0004842 Function Ubiquitin-protein transferase activity IDA 19269966
GO:0005515 Function Protein binding IPI 12861019, 14667819, 16901789, 19269966, 19549727, 20152160, 24019521, 25416956, 25759021, 26618866, 31515488, 32296183, 32814053, 33961781, 36012204
GO:0005739 Component Mitochondrion IEA
GO:0005783 Component Endoplasmic reticulum IDA
GO:0005783 Component Endoplasmic reticulum IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602677 10068 ENSG00000204308
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99942
Protein name E3 ubiquitin-protein ligase RNF5 (EC 2.3.2.27) (RING finger protein 5) (Ram1 homolog) (HsRma1)
Protein function Membrane-bound E3 ubiquitin-protein ligase that mediates ubiquitination of target proteins (PubMed:11329381, PubMed:12861019, PubMed:16176924, PubMed:19269966, PubMed:19285439). May function together with E2 ubiquitin-conjugating enzymes UBE2D1/
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13920 zf-C3HC4_3 23 73 Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:9533025}.
Sequence
MAAAEEEDGGPEGPNRERGGAGATFECNICLETAREAVVSVCGHLYCWPCLHQWLETRPE
RQECPVCKAGISR
EKVVPLYGRGSQKPQDPRLKTPPRPQGQRPAPESRGGFQPFGDTGGF
HFSFGVGAFPFGFFTTVFNAHEPFRRGTGVDLGQGHPASSWQDSLFLFLAIFFFFWLLSI
Sequence length 180
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
BEHCET'S SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DENTAL CARIES GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MEMBRANOUS GLOMERULONEPHRITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma BEFREE 17804730, 25759021, 31611975
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 17804730, 37816703 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 36656913 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 29514927, 32054686 Associate
★☆☆☆☆
Found in Text Mining only
Chronic Obstructive Airway Disease Chronic Obstructive Pulmonary Disease BEFREE 21318260
★☆☆☆☆
Found in Text Mining only
Chronobiology Disorders Chronobiology disorder Pubtator 37635482 Associate
★☆☆☆☆
Found in Text Mining only
Colitis Colitis BEFREE 30232010, 31257292
★☆☆☆☆
Found in Text Mining only
Cystic Fibrosis Cystic fibrosis Pubtator 19625452, 37440686 Associate
★☆☆☆☆
Found in Text Mining only
Cystic Fibrosis Cystic Fibrosis BEFREE 26183966, 29754957
★☆☆☆☆
Found in Text Mining only
Cystic Fibrosis Cystic fibrosis Pubtator 31746734 Inhibit
★☆☆☆☆
Found in Text Mining only