RNF2
E3 ubiquitin-protein ligase RING2
Also known as: BAP-1, BAP1, DING, HIPI3, RING1B, RING2, RING2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q99496
- Gene
- RNF2
- Ensembl
- ENSG00000121481
- Chromosome
- 1
- Canonical length
- 336 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nuclear bodies
OverviewNCBI Gene
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 shown to interact with, and suppress the activity of, transcription factor CP2 (TFCP2/CP2). Studies of the mouse counterpart suggested the involvement of this gene in the specification of anterior-posterior axis, as well as in cell proliferation in early development. This protein was also found to interact with huntingtin interacting protein 2 (HIP2), an ubiquitin-conjugating enzyme, and possess ubiquitin ligase activity. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
336 residues, UniProt reviewed canonical sequence.
>Q99496|RNF2
1 MSQAVQTNGT QPLSKTWELS LYELQRTPQE AITDGLEIVV SPRSLHSELM CPICLDMLKN
61 TMTTKECLHR FCADCIITAL RSGNKECPTC RKKLVSKRSL RPDPNFDALI SKIYPSRDEY
121 EAHQERVLAR INKHNNQQAL SHSIEEGLKI QAMNRLQRGK KQQIENGSGA EDNGDSSHCS
181 NASTHSNQEA GPSNKRTKTS DDSGLELDNN NAAMAIDPVM DGASEIELVF RPHPTLMEKD
241 DSAQTRYIKT SGNATVDHLS KYLAVRLALE ELRSKGESNQ MNLDTASEKQ YTIYIATASG
301 QFTVLNGSFS LELVSEKYWK VNKPMELYYA PTKEHKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against RNF2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.45
- Highest tissue expression
- 21 nTPM
Expression across tissuesHPA
Tissue
- testis: 21 nTPM
- placenta: 20 nTPM
- urinary bladder: 15 nTPM
- bone marrow: 13 nTPM
- breast: 12 nTPM
- ovary: 12 nTPM
Single-cell type
- differentiating spermatogonia: 116 nCPM
- oocytes: 101 nCPM
- sertoli cells: 72 nCPM
- extravillous trophoblasts: 69 nCPM
- thyrotrophs: 65 nCPM
- early primary spermatocytes: 64 nCPM
Immune cell
- basophil: 31 nTPM
- non-classical monocyte: 30 nTPM
- eosinophil: 28 nTPM
- intermediate monocyte: 28 nTPM
- myeloid DC: 26 nTPM
- NK-cell: 25 nTPM
Brain region
- hypothalamus: 20 nTPM
- cerebral cortex: 18 nTPM
- basal ganglia: 18 nTPM
- hippocampal formation: 17 nTPM
- cerebellum: 17 nTPM
- white matter: 15 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about RNF2.
Disease | AllUniProt
Conditions RNF2 is implicated in, by any mechanism.
- Luo-Schoch-Yamamoto syndrome (LUSYAM) MIM:619460
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 49 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Luo-Schoch-Yamamoto syndrome
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.17
- gnomAD pLI
- 1
- gnomAD missense Z
- 2.52
- DepMap mean gene effect
- -0.04
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- anterior/posterior axis specification
- chromatin remodeling
- epigenetic regulation of gene expression
- gastrulation with mouth forming second
- gene expression
- germ cell development
- mitotic cell cycle
- negative regulation of DNA-binding transcription factor activity
- negative regulation of transcription by RNA polymerase II
- protein ubiquitination
Molecular functions
- chromatin binding
- histone H2AK119 ubiquitin ligase activity
- RING-like zinc finger domain binding
- ubiquitin protein ligase activity
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of RNF2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads RNF2 as an antibody target. Whether an autoantibody or antibody against RNF2 could matter depends on whether native RNF2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
RNF2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label RNF2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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