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Aliases for RNF220 Gene

Aliases for RNF220 Gene

  • Ring Finger Protein 220 2 3
  • RING-Type E3 Ubiquitin Transferase RNF220 3 4
  • RING Finger Protein 220 4 5
  • C1orf164 3 4
  • Chromosome 1 Open Reading Frame 164 2
  • E3 Ubiquitin-Protein Ligase RNF220 3
  • EC 2.3.2.27 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 Innate Immune System and Class I MHC mediated antigen processing and presentation. Gene Ontology (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

Additional gene information for RNF220 Gene

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

Genomics for RNF220 Gene

GeneHancer (GH) Regulatory Elements for RNF220 Gene

Promoters and enhancers for RNF220 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I044404 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 560.9 +0.8 788 2 ARID4B SIN3A FEZF1 ZNF2 ZNF302 ZNF416 ZNF143 MCM3 KAT8 MIER3 RNF220 LOC101929609 TOE1 ZSWIM5 DMAP1 RPS8 PTCH2 MUTYH ATP6V0B MIR5584
GH01I044406 Promoter/Enhancer 1.2 EPDnew ENCODE dbSUPER 550.8 +1.9 1933 0.2 L3MBTL2 SUZ12 MXD3 EZH2 RNF220 MIR5584
GH01I044483 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 15.4 +80.6 80552 3.2 PKNOX1 SMAD1 ARNT FEZF1 ZNF2 ZNF766 ZNF213 E2F8 FOS MEF2D DMAP1 RNF220 ZSWIM5 LOC101929609 RNU6-369P ARTN ERI3 KDM4A MUTYH PLK3
GH01I043945 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.2 -457.7 -457745 2.7 CLOCK MLX DMAP1 YY1 SLC30A9 ZNF213 ZNF143 SP3 NFYC MEF2D LOC101929609 IPO13 ARTN ATP6V0B CCDC24 DMAP1 ERI3-IT1 HYI RNF220 LOC101929592
GH01I044212 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 10.2 -191.3 -191301 2.3 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF416 ZNF143 DMAP1 SZT2 HYI KDM4A-AS1 ARTN LOC101929609 RPS8 HECTD3 PTCH2 KDM4A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RNF220 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RNF220 gene promoter:

Genomic Locations for RNF220 Gene

Genomic Locations for RNF220 Gene
chr1:44,404,783-44,651,724
(GRCh38/hg38)
Size:
246,942 bases
Orientation:
Plus strand
chr1:44,870,866-45,117,396
(GRCh37/hg19)

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

No data available for DME Specific Peptides for RNF220 Gene

Domains & Families for RNF220 Gene

Gene Families for RNF220 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for RNF220 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for RNF220 Gene

Function for RNF220 Gene

Molecular function for RNF220 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.
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

Phenotypes From GWAS Catalog 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:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0061630 ubiquitin protein ligase activity 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

CRISPR Products

Inhibitory RNA Products

Clone 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

Subcellular locations from the

Human Protein Atlas (HPA)

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

Drugs & Compounds for RNF220 Gene

No Compound Related Data Available

Transcripts for RNF220 Gene

Unigene Clusters for RNF220 Gene

Ring finger protein 220:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone 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 CGAP 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

Evidence on tissue expression from TISSUES for RNF220 Gene

  • Nervous system(4.9)
  • Intestine(2.8)
  • Lung(2.5)
genes like me logo Genes that share expression patterns with RNF220: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RNF220 34
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RNF220 34
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RNF220 33 34
  • 94.76 (n)
cow
(Bos Taurus)
Mammalia RNF220 33 34
  • 93.88 (n)
mouse
(Mus musculus)
Mammalia Rnf220 33 16 34
  • 92.23 (n)
rat
(Rattus norvegicus)
Mammalia Rnf220 33
  • 91.81 (n)
chicken
(Gallus gallus)
Aves RNF220 33 34
  • 83.07 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 95 (a)
OneToMany
-- 34
  • 75 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia rnf220.1 33
  • 78.28 (n)
Str.11999 33
zebrafish
(Danio rerio)
Actinopterygii rnf220a 34
  • 80 (a)
OneToOne
rnf220b 33
  • 66.85 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4813 33 34
  • 50 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003744 33
  • 46.79 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4958 34
  • 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 Variation AA Info Type
rs1000001458 -- 44,501,302(+) G/T genic_upstream_transcript_variant, intron_variant
rs1000003820 -- 44,596,051(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000005168 -- 44,446,706(+) A/C genic_upstream_transcript_variant, intron_variant
rs1000015757 -- 44,589,569(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000017785 -- 44,442,979(+) C/T genic_upstream_transcript_variant, intron_variant

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

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

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)

Additional Variant Information 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

Additional Disease Information for RNF220

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

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 β-catenin. (PMID: 25266658) Ma P … Mao B (Molecular and cellular biology 2014) 3 4 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  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 SD … DREAM investigators (Diabetes care 2010) 3 44 58
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for RNF220 Gene

Sources for RNF220 Gene

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