Gene Gene information from NCBI Gene database.
Entrez ID 6045
Gene name Ring finger protein 2
Gene symbol RNF2
Synonyms (NCBI Gene)
BAP-1BAP1DINGHIPI3LUSYAMRING1BRING2
Chromosome 1
Chromosome location 1q25.3
Summary Polycomb group (PcG) of proteins form the multiprotein complexes that are important for the transcription repression of various genes involved in development and cell proliferation. The protein encoded by this gene is one of the PcG proteins. It has been
miRNA miRNA information provided by mirtarbase database.
358
miRTarBase ID miRNA Experiments Reference
MIRT006163 hsa-miR-200b-3p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 21840484
MIRT006163 hsa-miR-200b-3p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 21840484
MIRT006163 hsa-miR-200b-3p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 21840484
MIRT006164 hsa-miR-200c-3p LacZ reporter assayMicroarrayqRT-PCRWestern blot 21840484
MIRT006164 hsa-miR-200c-3p LacZ reporter assayMicroarrayqRT-PCRWestern blot 21840484
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
E2F1 Unknown 17873902
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
49
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0000151 Component Ubiquitin ligase complex IBA
GO:0000151 Component Ubiquitin ligase complex IDA 16714294
GO:0000151 Component Ubiquitin ligase complex IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608985 10061 ENSG00000121481
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99496
Protein name E3 ubiquitin-protein ligase RING2 (EC 2.3.2.27) (Huntingtin-interacting protein 2-interacting protein 3) (HIP2-interacting protein 3) (Protein DinG) (RING finger protein 1B) (RING1b) (RING finger protein 2) (RING finger protein BAP-1) (RING-type E3 ubiqui
Protein function E3 ubiquitin-protein ligase that mediates monoubiquitination of 'Lys-119' of histone H2A (H2AK119Ub), thereby playing a central role in histone code and gene regulation (PubMed:15386022, PubMed:16359901, PubMed:21772249, PubMed:25355358, PubMed:
PDB 2H0D , 3GS2 , 3H8H , 3IXS , 3RPG , 4R8P , 4S3O , 6WI7 , 6WI8 , 7ND1 , 8GRM , 8PP7 , 9DBY , 9DDE , 9DGG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13923 zf-C3HC4_2 50 90 Domain
PF16207 RAWUL 246 330 RAWUL domain RING finger- and WD40-associated ubiquitin-like Domain
Sequence
MSQAVQTNGTQPLSKTWELSLYELQRTPQEAITDGLEIVVSPRSLHSELMCPICLDMLKN
TMTTKECLHRFCADCIITALRSGNKECPTC
RKKLVSKRSLRPDPNFDALISKIYPSRDEY
EAHQERVLARINKHNNQQALSHSIEEGLKIQAMNRLQRGKKQQIENGSGAEDNGDSSHCS
NASTHSNQEAGPSNKRTKTSDDSGLELDNNNAAMAIDPVMDGASEIELVFRPHPTLMEKD
DSAQTRYIKTSGNATVDHLSKYLAVRLALEELRSKGESNQMNLDTASEKQYTIYIATASG
QFTVLNGSFSLELVSEKYWKVNKPMELYYA
PTKEHK
Sequence length 336
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Polycomb repressive complex   Oxidative Stress Induced Senescence
SUMOylation of DNA damage response and repair proteins
SUMOylation of transcription cofactors
SUMOylation of chromatin organization proteins
SUMOylation of RNA binding proteins
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
Regulation of PTEN gene transcription
Transcriptional Regulation by E2F6
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Luo-Schoch-Yamamoto syndrome Pathogenic rs1651768254 RCV001549289
★★★★☆
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
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBESITY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RNF2-associated neurodevelopmental condition Uncertain significance ClinVar
★★☆☆☆
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
Acute monocytic leukemia Monocytic Leukemia BEFREE 29371181
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 30954952
★☆☆☆☆
Found in Text Mining only
Angelman Syndrome Angelman Syndrome BEFREE 20351251, 28890050
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 24903147
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 29973208 Associate
★☆☆☆☆
Found in Text Mining only
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 28029659
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 12840230, 25470042, 30139998, 31300294
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 32548262, 36271315 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 37037816 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 26869491
★☆☆☆☆
Found in Text Mining only