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Aliases for RNF2 Gene

Aliases for RNF2 Gene

  • Ring Finger Protein 2 2 3
  • Huntingtin-Interacting Protein 2-Interacting Protein 3 3 4
  • HIP2-Interacting Protein 3 3 4
  • RING Finger Protein BAP-1 3 4
  • RING Finger Protein 1B 3 4
  • RING Finger Protein 2 4 5
  • Protein DinG 3 4
  • RING1B 3 4
  • HIPI3 3 4
  • BAP1 3 4
  • DING 3 4
  • EC 6.3.2.- 4
  • EC 6.3.2 63
  • RING2 3
  • BAP-1 3

External Ids for RNF2 Gene

Previous GeneCards Identifiers for RNF2 Gene

  • GC01P182540
  • GC01P180442
  • GC01P181534
  • GC01P182253
  • GC01P181746
  • GC01P183281
  • GC01P185014
  • GC01P156249

Summaries for RNF2 Gene

Entrez Gene Summary for RNF2 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]

GeneCards Summary for RNF2 Gene

RNF2 (Ring Finger Protein 2) is a Protein Coding gene. Diseases associated with RNF2 include angelman syndrome and occult macular dystrophy. Among its related pathways are Chromatin Regulation / Acetylation and DNA Damage. GO annotations related to this gene include chromatin binding and ubiquitin-protein transferase activity. An important paralog of this gene is RING1.

UniProtKB/Swiss-Prot for RNF2 Gene

  • 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. H2AK119Ub gives a specific tag for epigenetic transcriptional repression and participates in X chromosome inactivation of female mammals. May be involved in the initiation of both imprinted and random X inactivation. Essential component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones, rendering chromatin heritably changed in its expressibility. E3 ubiquitin-protein ligase activity is enhanced by BMI1/PCGF4. Acts as the main E3 ubiquitin ligase on histone H2A of the PRC1 complex, while RING1 may rather act as a modulator of RNF2/RING2 activity. In resting B- and T-lymphocytes, interaction with AURKB leads to block its activity, thereby maintaining transcription in resting lymphocytes.

Gene Wiki entry for RNF2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RNF2 Gene

Genomics for RNF2 Gene

Regulatory Elements for RNF2 Gene

Enhancers for RNF2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RNF2 on UCSC Golden Path with GeneCards custom track

Promoters for RNF2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RNF2 on UCSC Golden Path with GeneCards custom track

Genomic Location for RNF2 Gene

Chromosome:
1
Start:
185,045,364 bp from pter
End:
185,102,608 bp from pter
Size:
57,245 bases
Orientation:
Plus strand

Genomic View for RNF2 Gene

Genes around RNF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RNF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RNF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RNF2 Gene

Proteins for RNF2 Gene

  • Protein details for RNF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99496-RING2_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase RING2
    Protein Accession:
    Q99496
    Secondary Accessions:
    • B2RBS7
    • B3KRH1
    • Q5TEN1
    • Q5TEN2

    Protein attributes for RNF2 Gene

    Size:
    336 amino acids
    Molecular mass:
    37655 Da
    Quaternary structure:
    • Interacts with CBX2 and PHC1. Interacts with CHTOP. Interacts with AURKB (By similarity). Part of the E2F6.com-1 complex in G0 phase composed of E2F6, MGA, MAX, TFDP1, CBX3, BAT8, EUHMTASE1, RNF1/RING1, RNF2/RING2, MBLR, L3MBTL2 and YAF2. Component of a PRC1-like complex. Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, MYST1/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Interacts with RYBP, HIP2 and TFCP2. Association to the chromosomal DNA is cell-cycle dependent. Component of repressive BCOR complex containing Polycomb group subcomplex at least composed of RYBP, PCGF1, BCOR and RING1. Component of chromatin-associated Polycomb (PcG) complexes. Interacts with RYBP, PCGF2, CBX4, CBX6, CBX7 and CBX8. Interacts with RNF1/RING1, BMI1 and PHC2. Interacts with PCGF1 (PubMed:26687479).
    Miscellaneous:
    • The hPRC-H complex purification reported by PubMed:12167701 probably presents a mixture of different PRC1-like complexes.
    SequenceCaution:
    • Sequence=CAI17849.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI17850.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RNF2 Gene

    Alternative splice isoforms for RNF2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RNF2 Gene

Proteomics data for RNF2 Gene at MOPED

Post-translational modifications for RNF2 Gene

  • Monoubiquitinated, by auto-ubiquitination.
  • Polyubiquitinated in the presence of UBE2D3 (in vitro).
  • Ubiquitination at Lys 112, Lys 149, Lys 249, Lys 261, and Lys 323
  • Modification sites at PhosphoSitePlus

Other Protein References for RNF2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for RNF2 (RNF2)

Domains & Families for RNF2 Gene

Gene Families for RNF2 Gene

Protein Domains for RNF2 Gene

Graphical View of Domain Structure for InterPro Entry

Q99496

UniProtKB/Swiss-Prot:

RING2_HUMAN :
  • Contains 1 RING-type zinc finger.
Similarity:
  • Contains 1 RING-type zinc finger.
genes like me logo Genes that share domains with RNF2: view

Function for RNF2 Gene

Molecular function for RNF2 Gene

UniProtKB/Swiss-Prot 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. H2AK119Ub gives a specific tag for epigenetic transcriptional repression and participates in X chromosome inactivation of female mammals. May be involved in the initiation of both imprinted and random X inactivation. Essential component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones, rendering chromatin heritably changed in its expressibility. E3 ubiquitin-protein ligase activity is enhanced by BMI1/PCGF4. Acts as the main E3 ubiquitin ligase on histone H2A of the PRC1 complex, while RING1 may rather act as a modulator of RNF2/RING2 activity. In resting B- and T-lymphocytes, interaction with AURKB leads to block its activity, thereby maintaining transcription in resting lymphocytes.

Enzyme Numbers (IUBMB) for RNF2 Gene

Gene Ontology (GO) - Molecular Function for RNF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IDA 25519132
GO:0004842 contributes_to ubiquitin-protein transferase activity IDA 16714294
GO:0016874 ligase activity IEA --
GO:0071535 RING-like zinc finger domain binding IPI 16714294
genes like me logo Genes that share ontologies with RNF2: view
genes like me logo Genes that share phenotypes with RNF2: view

Animal Models for RNF2 Gene

MGI Knock Outs for RNF2:

Animal Model Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RNF2 Gene

Localization for RNF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RNF2 Gene

Nucleus. Chromosome. Note=Enriched on inactive X chromosome (Xi) in female trophoblast stem (TS) cells as well as differentiating embryonic stem (ES) cells. The enrichment on Xi is transient during TS and ES cell differentiation. The association with Xi is mitotically stable in non-differentiated TS cells (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RNF2 Gene COMPARTMENTS Subcellular localization image for RNF2 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for RNF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex IDA 16714294
GO:0000792 heterochromatin IEA --
GO:0071339 MLL1 complex IDA 15960975
genes like me logo Genes that share ontologies with RNF2: view

Pathways & Interactions for RNF2 Gene

genes like me logo Genes that share pathways with RNF2: view

Pathways by source for RNF2 Gene

UniProtKB/Swiss-Prot Q99496-RING2_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for RNF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter ISS --
GO:0001702 gastrulation with mouth forming second IEA --
GO:0016574 histone ubiquitination IEA --
GO:0016925 protein sumoylation TAS --
GO:0021510 spinal cord development IEA --
genes like me logo Genes that share ontologies with RNF2: view

No data available for SIGNOR curated interactions for RNF2 Gene

Drugs & Compounds for RNF2 Gene

(3) Drugs for RNF2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Diphosphate Experimental Pharma 0

(1) Additional Compounds for RNF2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
genes like me logo Genes that share compounds with RNF2: view

Transcripts for RNF2 Gene

Unigene Clusters for RNF2 Gene

Ring finger protein 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RNF2 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c
SP1: - -
SP2: - - - - -
SP3: -
SP4: - -
SP5: - - - - - - -
SP6: - - - - - -
SP7: -
SP8: -

Relevant External Links for RNF2 Gene

GeneLoc Exon Structure for
RNF2
ECgene alternative splicing isoforms for
RNF2

Expression for RNF2 Gene

mRNA expression in normal human tissues for RNF2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RNF2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (24.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RNF2 Gene



SOURCE GeneReport for Unigene cluster for RNF2 Gene Hs.591490

genes like me logo Genes that share expression patterns with RNF2: view

Protein tissue co-expression partners for RNF2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RNF2 Gene

Orthologs for RNF2 Gene

This gene was present in the common ancestor of animals.

Orthologs for RNF2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RNF2 36
  • 100 (a)
OneToOne
RNF2 35
  • 99.9 (n)
  • 100 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia RNF2 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rnf2 36
  • 100 (a)
OneToOne
Rnf2 16
Rnf2 35
  • 92.16 (n)
  • 99.7 (a)
oppossum
(Monodelphis domestica)
Mammalia RNF2 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RNF2 36
  • 99 (a)
OneToOne
RNF2 35
  • 95.83 (n)
  • 99.4 (a)
cow
(Bos Taurus)
Mammalia RNF2 36
  • 99 (a)
OneToOne
RNF2 35
  • 95.34 (n)
  • 99.4 (a)
rat
(Rattus norvegicus)
Mammalia Rnf2 35
  • 90.35 (n)
  • 99.67 (a)
chicken
(Gallus gallus)
Aves RNF2 36
  • 98 (a)
OneToOne
RNF2 35
  • 84.42 (n)
  • 97.92 (a)
lizard
(Anolis carolinensis)
Reptilia RNF2 36
  • 98 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398559 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.682 35
rnf2 35
  • 80.75 (n)
  • 93.75 (a)
zebrafish
(Danio rerio)
Actinopterygii rnf2 36
  • 89 (a)
OneToOne
rnf2 35
  • 72.42 (n)
  • 89.29 (a)
fruit fly
(Drosophila melanogaster)
Insecta Sce 36
  • 41 (a)
OneToMany
Sce 35
  • 57.71 (n)
  • 62.9 (a)
Ring 37
  • 80 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002073 35
  • 58.72 (n)
  • 66.23 (a)
worm
(Caenorhabditis elegans)
Secernentea spat-3 36
  • 3 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9967 36
  • 47 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4640 35
Species with no ortholog for RNF2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RNF2 Gene

ENSEMBL:
Gene Tree for RNF2 (if available)
TreeFam:
Gene Tree for RNF2 (if available)

Paralogs for RNF2 Gene

Paralogs for RNF2 Gene

(1) SIMAP similar genes for RNF2 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for RNF2 Gene

genes like me logo Genes that share paralogs with RNF2: view

Variants for RNF2 Gene

Sequence variations from dbSNP and Humsavar for RNF2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs725303 -- 185,054,536(+) ACGAG(C/T)GCTCT intron-variant
rs1008502 -- 185,049,554(+) GATAT(C/G)TGAGA intron-variant
rs1046592 -- 185,100,429(+) AGACT(A/G)GTTTA utr-variant-3-prime
rs1884447 -- 185,052,278(+) ttcct(A/G)gcacc intron-variant
rs2144664 -- 185,044,217(+) AGTAG(A/G)CAAAA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for RNF2 Gene

Variant ID Type Subtype PubMed ID
nsv525731 CNV Gain 19592680

Variation tolerance for RNF2 Gene

Residual Variation Intolerance Score: 50.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.49; 10.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RNF2 Gene

HapMap Linkage Disequilibrium report
RNF2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RNF2 Gene

Disorders for RNF2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for RNF2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
angelman syndrome
  • as
occult macular dystrophy
  • ocmd
histidine metabolism disease
  • disturbances of histidine metabolism
histidinemia
  • histidinuria
- elite association - COSMIC cancer census association via MalaCards
Search RNF2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for RNF2

Genetic Association Database (GAD)
RNF2
Human Genome Epidemiology (HuGE) Navigator
RNF2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RNF2
genes like me logo Genes that share disorders with RNF2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RNF2 Gene

Publications for RNF2 Gene

  1. E3 ligase activity of RING finger proteins that interact with Hip-2, a human ubiquitin-conjugating enzyme. (PMID: 11513855) Lee S.-J. … Kang S. (FEBS Lett. 2001) 2 3 4 23 67
  2. Overlapping roles of the methylated DNA-binding protein MBD1 and polycomb group proteins in transcriptional repression of HOXA genes and heterochromatin foci formation. (PMID: 17428788) Sakamoto Y. … Nakao M. (J. Biol. Chem. 2007) 3 23
  3. Role of Bmi1 in H2A ubiquitylation and Hox gene silencing. (PMID: 16751658) Wei J. … Wang H. (J. Biol. Chem. 2006) 3 23
  4. Structure of a Bmi-1-Ring1B polycomb group ubiquitin ligase complex. (PMID: 16714294) Li Z. … Xu R.M. (J. Biol. Chem. 2006) 3 23
  5. E3 ubiquitin ligase RNF2 interacts with the S6' proteasomal ATPase subunit and increases the ATP hydrolysis activity of S6'. (PMID: 15773819) Lee S.J. … Kang S. (Biochem. J. 2005) 3 23

Products for RNF2 Gene

Sources for RNF2 Gene

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