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Aliases for RNF220 Gene

Aliases for RNF220 Gene

  • Ring Finger Protein 220 2 3
  • RING Finger Protein 220 4 5
  • C1orf164 3 4
  • Chromosome 1 Open Reading Frame 164 2
  • E3 Ubiquitin-Protein Ligase RNF220 3
  • EC 6.3.2.- 4

External Ids for RNF220 Gene

Previous HGNC Symbols for RNF220 Gene

  • C1orf164

Previous GeneCards Identifiers for RNF220 Gene

  • GC01P044644
  • GC01P044870
  • GC01P042984

Summaries for RNF220 Gene

GeneCards Summary for RNF220 Gene

RNF220 (Ring Finger Protein 220) is a Protein Coding gene. Among its related pathways are Immune System and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include ligase activity and ubiquitin-protein transferase activity.

UniProtKB/Swiss-Prot for RNF220 Gene

  • E3 ubiquitin-protein ligase that promotes the ubiquitination and proteasomal degradation of SIN3B (By similarity). Independently of its E3 ligase activity, acts as a CTNNB1 stabilizer through USP7-mediated deubiquitination of CTNNB1 promoting Wnt signaling (PubMed:25266658).

Gene Wiki entry for RNF220 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RNF220 Gene

Genomics for RNF220 Gene

Regulatory Elements for RNF220 Gene

Enhancers for RNF220 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F044523 2.5 VISTA Ensembl ENCODE 10.7 +119.8 119752 3.0 PKNOX1 TAL1 TEAD4 ETS1 ZFHX2 ZNF316 NCOR1 POLR2A EGR2 RFX1 RNF220 ERI3 MIR5584
GH01F044483 1.6 FANTOM5 Ensembl ENCODE 15.4 +80.6 80592 3.3 PKNOX1 ARNT FEZF1 ZNF2 FOS ZNF263 JUNB KAT8 MEF2D ZNF585B DMAP1 ZSWIM5 LOC101929609 RNF220 TOE1 RNU6-369P PTCH2 ERI3 PLK3 ATP6V0B
GH01F044507 0.9 FANTOM5 ENCODE 23.5 +103.0 103038 1.4 ZNF121 ZFHX2 ZNF133 CEBPB KDM1A ZIC2 EGR2 RNF220 SLC6A9 C1orf228 PTCH2 MIR5584
GH01F044531 1.3 Ensembl ENCODE 10.7 +127.5 127484 1.8 PKNOX1 ATF1 ARNT ZNF121 GATA2 FOS KLF13 JUNB NCOA1 MIER2 TOE1 RNF220 RPS8 ERI3 MIR5584
GH01F044592 0.7 FANTOM5 ENCODE 18.3 +187.6 187603 0.7 RING1 POLR2A RNF220 DMAP1 TOE1 ERI3 ZSWIM5 C1orf228 PIR47647 MIR5584
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RNF220 on UCSC Golden Path with GeneCards custom track

Promoters for RNF220 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000535729 1018 2000 ARID4B SIN3A FEZF1 GLI4 ZNF48 ZNF2 ZNF121 GLIS2 ZNF302 ZNF416

Genomic Location for RNF220 Gene

Chromosome:
1
Start:
44,404,783 bp from pter
End:
44,651,724 bp from pter
Size:
246,942 bases
Orientation:
Plus strand

Genomic View for RNF220 Gene

Genes around RNF220 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RNF220 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RNF220 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RNF220 Gene

Proteins for RNF220 Gene

  • Protein details for RNF220 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VTB9-RN220_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase RNF220
    Protein Accession:
    Q5VTB9
    Secondary Accessions:
    • B3KPJ3
    • B4DLZ9
    • E9PCS1
    • Q4KMX2
    • Q9NVP6

    Protein attributes for RNF220 Gene

    Size:
    566 amino acids
    Molecular mass:
    62765 Da
    Quaternary structure:
    • Interacts with SIN3B (By similarity). Interacts with CTNNB1 (via Armadillo repeats 2-8) (PubMed:25266658). Interacts with USP7 (via MATH domain) (PubMed:25266658).
    SequenceCaution:
    • Sequence=BAA91704.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for RNF220 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RNF220 Gene

Post-translational modifications for RNF220 Gene

  • Auto-ubiquitinated; leads to proteasomal degradation.
  • Ubiquitination at Lys 362 and Lys 451
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RNF220 Gene

Domains & Families for RNF220 Gene

Gene Families for RNF220 Gene

Protein Domains for RNF220 Gene

Graphical View of Domain Structure for InterPro Entry

Q5VTB9

UniProtKB/Swiss-Prot:

RN220_HUMAN :
  • Contains 1 RING-type zinc finger.
Similarity:
  • Contains 1 RING-type zinc finger.
genes like me logo Genes that share domains with RNF220: view

Function for RNF220 Gene

Molecular function for RNF220 Gene

UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase that promotes the ubiquitination and proteasomal degradation of SIN3B (By similarity). Independently of its E3 ligase activity, acts as a CTNNB1 stabilizer through USP7-mediated deubiquitination of CTNNB1 promoting Wnt signaling (PubMed:25266658).

Enzyme Numbers (IUBMB) for RNF220 Gene

Gene Ontology (GO) - Molecular Function for RNF220 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity ISS --
GO:0005515 protein binding IPI 25266658
GO:0008270 zinc ion binding IEA --
GO:0016874 ligase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with RNF220: view
genes like me logo Genes that share phenotypes with RNF220: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RNF220 Gene

Localization for RNF220 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RNF220 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RNF220 gene
Compartment Confidence
nucleus 3
cytosol 3
extracellular 2

Gene Ontology (GO) - Cellular Components for RNF220 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
genes like me logo Genes that share ontologies with RNF220: view

Pathways & Interactions for RNF220 Gene

genes like me logo Genes that share pathways with RNF220: view

UniProtKB/Swiss-Prot Q5VTB9-RN220_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for RNF220 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination ISS --
GO:0051865 protein autoubiquitination ISS --
GO:0090263 positive regulation of canonical Wnt signaling pathway IMP 25266658
genes like me logo Genes that share ontologies with RNF220: view

No data available for SIGNOR curated interactions for RNF220 Gene

Transcripts for RNF220 Gene

Unigene Clusters for RNF220 Gene

Ring finger protein 220:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RNF220 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d · 7e ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b · 17c ·
SP1: - - - - - - - - - - - -
SP2: - - - - - - - - - - - -
SP3: - -
SP4: - - -
SP5:
SP6: -
SP7:
SP8: -
SP9: -
SP10:
SP11:
SP12: - - - -
SP13: - - -
SP14:

ExUns: 17d ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^ 24
SP1: - - -
SP2: - - -
SP3: - - -
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for RNF220 Gene

GeneLoc Exon Structure for
RNF220
ECgene alternative splicing isoforms for
RNF220

Expression for RNF220 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RNF220 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RNF220 Gene

This gene is overexpressed in Retina (22.5), Heart (13.1), Lung (9.2), and Peripheral blood mononuclear cells (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RNF220 Gene



Protein tissue co-expression partners for RNF220 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RNF220 Gene:

RNF220

SOURCE GeneReport for Unigene cluster for RNF220 Gene:

Hs.456557
genes like me logo Genes that share expression patterns with RNF220: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RNF220 Gene

Orthologs for RNF220 Gene

This gene was present in the common ancestor of animals.

Orthologs for RNF220 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RNF220 34 35
  • 99.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RNF220 35
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RNF220 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RNF220 34 35
  • 94.76 (n)
cow
(Bos Taurus)
Mammalia RNF220 34 35
  • 93.88 (n)
mouse
(Mus musculus)
Mammalia Rnf220 34 16 35
  • 92.23 (n)
rat
(Rattus norvegicus)
Mammalia Rnf220 34
  • 91.81 (n)
chicken
(Gallus gallus)
Aves RNF220 34 35
  • 83.07 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 95 (a)
OneToMany
-- 35
  • 75 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia rnf220.1 34
  • 78.28 (n)
Str.11999 34
zebrafish
(Danio rerio)
Actinopterygii rnf220a 35
  • 80 (a)
OneToOne
rnf220b 34
  • 66.85 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4813 34 35
  • 50 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003744 34
  • 46.79 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4958 35
  • 41 (a)
OneToOne
Species where no ortholog for RNF220 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for RNF220 Gene

ENSEMBL:
Gene Tree for RNF220 (if available)
TreeFam:
Gene Tree for RNF220 (if available)

Paralogs for RNF220 Gene

No data available for Paralogs for RNF220 Gene

Variants for RNF220 Gene

Sequence variations from dbSNP and Humsavar for RNF220 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs10082024 -- 44,468,715(+) TTGAG(A/G)CCAGC intron-variant
rs10082259 -- 44,492,543(+) ataaa(C/T)acaaa intron-variant
rs10157599 -- 44,464,460(+) CCGCT(A/G)ACATT intron-variant
rs10157653 -- 44,570,228(+) GATCT(A/G)GTGAG intron-variant
rs10158231 -- 44,569,949(+) TCTAG(A/G)TGCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RNF220 Gene

Variant ID Type Subtype PubMed ID
nsv744 CNV insertion 18451855
nsv829715 CNV gain 17160897
nsv950704 CNV deletion 24416366
nsv546144 CNV gain 21841781
nsv472278 CNV novel sequence insertion 20440878
nsv461395 CNV gain 19166990
nsv1122337 CNV deletion 24896259
esv3585888 CNV loss 21293372
esv3585887 CNV loss 21293372
esv3585885 CNV gain 21293372
esv3561504 CNV deletion 23714750
esv3404107 CNV insertion 20981092
esv3395208 CNV insertion 20981092
esv3308362 CNV mobile element insertion 20981092
esv3303245 CNV mobile element insertion 20981092
esv2747741 CNV deletion 23290073
esv2747730 CNV deletion 23290073
esv2747719 CNV deletion 23290073
esv2747708 CNV deletion 23290073
esv24516 CNV loss 19812545
esv1005212 CNV deletion 20482838
esv1001605 CNV insertion 20482838
dgv41e199 CNV deletion 23128226

Variation tolerance for RNF220 Gene

Residual Variation Intolerance Score: 11.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.85; 34.74% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RNF220 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RNF220

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RNF220 Gene

Disorders for RNF220 Gene

Relevant External Links for RNF220

Genetic Association Database (GAD)
RNF220
Human Genome Epidemiology (HuGE) Navigator
RNF220
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RNF220

No disorders were found for RNF220 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RNF220 Gene

Publications for RNF220 Gene

  1. The ubiquitin ligase RNF220 enhances canonical Wnt signaling through USP7-mediated deubiquitination of beta-catenin. (PMID: 25266658) Ma P. … Mao B. (Mol. Cell. Biol. 2014) 3 4 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for RNF220 Gene

Sources for RNF220 Gene

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