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Aliases for RNF217 Gene

Aliases for RNF217 Gene

  • Ring Finger Protein 217 2 3
  • IBR Domain Containing 1 2 3
  • RING Finger Protein 217 4 5
  • C6orf172 3 4
  • IBRDC1 3 4
  • Probable E3 Ubiquitin-Protein Ligase RNF217 3
  • Chromosome 6 Open Reading Frame 172 2
  • IBR Domain-Containing Protein 1 4
  • Opposite STL 3
  • EC 2.3.2.27 4
  • DJ84N20.1 3
  • OSTL 3

External Ids for RNF217 Gene

Previous HGNC Symbols for RNF217 Gene

  • C6orf172
  • IBRDC1

Previous GeneCards Identifiers for RNF217 Gene

  • GC06P125347
  • GC06P122881

Summaries for RNF217 Gene

Entrez Gene Summary for RNF217 Gene

  • This protein encoded by this gene is a member of the RING1-IBR-RING24 (RBR) ubiquitin protein ligase family, and it belongs to a subfamily of these proteins that contain a transmembrane domain. This protein can interact with the HAX1 anti-apoptotic protein via its C-terminal RING finger motif, which suggests a role in apoptosis signaling. It is thought that deregulation of this gene can be a mechanism in leukemogenesis. Mutations in the region encoding the protein GXXXG motif, which appears to be necessary for protein self-association, have been found in human cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]

GeneCards Summary for RNF217 Gene

RNF217 (Ring Finger Protein 217) 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 RNF217 Gene

  • E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes in the form of a thioester and then directly transfers the ubiquitin to targeted substrates.

Additional gene information for RNF217 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RNF217 Gene

Genomics for RNF217 Gene

GeneHancer (GH) Regulatory Elements for RNF217 Gene

Promoters and enhancers for RNF217 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
GH06I124960 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE 572.7 +1.1 1145 6 HDGF FOXA2 ARNT SIN3A ZNF2 YY1 FOS KLF13 SP3 REST RNF217 RNF217-AS1 GC06P125084
GH06I124984 Promoter 0.7 EPDnew 562 +20.9 20863 0.1 PKNOX1 NR2F1 RNF217 RNF217-AS1 GC06P125084
GH06I125013 Enhancer 1.4 FANTOM5 Ensembl ENCODE 33.7 +51.7 51714 2.4 ATF1 FEZF1 ZNF2 NCOA2 ZNF766 ZNF548 ATF7 KLF13 YY2 ZNF662 TRMT11 RNF217 RNF217-AS1 GC06P125084
GH06I125299 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 18.3 +339.1 339149 4.7 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 POLR2B E2F8 HDDC2 RNF217 TRMT11 LOC100126584
GH06I125788 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 14.3 +829.4 829411 6.3 HDGF PKNOX1 SMAD1 FOXA2 ARNT ARID4B FEZF1 ZNF2 ZNF766 ZNF213 NCOA7 HEY2 RNF217 HINT3 NCOA7-AS1 LOC105377986 TRMT11
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RNF217 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RNF217 gene promoter:

Genomic Locations for RNF217 Gene

Genomic Locations for RNF217 Gene
chr6:124,962,486-125,092,633
(GRCh38/hg38)
Size:
130,148 bases
Orientation:
Plus strand
chr6:125,283,691-125,413,779
(GRCh37/hg19)

Genomic View for RNF217 Gene

Genes around RNF217 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RNF217 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RNF217 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RNF217 Gene

Proteins for RNF217 Gene

  • Protein details for RNF217 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TC41-RN217_HUMAN
    Recommended name:
    Probable E3 ubiquitin-protein ligase RNF217
    Protein Accession:
    Q8TC41
    Secondary Accessions:
    • H7C5V4
    • Q5TCA4
    • Q9BX48

    Protein attributes for RNF217 Gene

    Size:
    542 amino acids
    Molecular mass:
    59372 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RNF217 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RNF217 Gene

Post-translational modifications for RNF217 Gene

  • Ubiquitination at Lys475
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RNF217 Gene

Domains & Families for RNF217 Gene

Gene Families for RNF217 Gene

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

Protein Domains for RNF217 Gene

Suggested Antigen Peptide Sequences for RNF217 Gene

Graphical View of Domain Structure for InterPro Entry

Q8TC41

UniProtKB/Swiss-Prot:

RN217_HUMAN :
  • Members of the RBR family are atypical E3 ligases. They interact with the E2 conjugating enzyme UBE2L3 and function like HECT-type E3 enzymes: they bind E2s via the first RING domain, but require an obligate trans-thiolation step during the ubiquitin transfer, requiring a conserved cysteine residue in the second RING domain.
  • Belongs to the RBR family. RNF217 subfamily.
Domain:
  • Members of the RBR family are atypical E3 ligases. They interact with the E2 conjugating enzyme UBE2L3 and function like HECT-type E3 enzymes: they bind E2s via the first RING domain, but require an obligate trans-thiolation step during the ubiquitin transfer, requiring a conserved cysteine residue in the second RING domain.
Family:
  • Belongs to the RBR family. RNF217 subfamily.
genes like me logo Genes that share domains with RNF217: view

Function for RNF217 Gene

Molecular function for RNF217 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 which accepts ubiquitin from E2 ubiquitin-conjugating enzymes in the form of a thioester and then directly transfers the ubiquitin to targeted substrates.

Enzyme Numbers (IUBMB) for RNF217 Gene

Phenotypes From GWAS Catalog for RNF217 Gene

Gene Ontology (GO) - Molecular Function for RNF217 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity TAS,IEA --
GO:0016740 transferase activity IEA --
GO:0031624 ubiquitin conjugating enzyme binding IBA --
GO:0046872 metal ion binding IEA --
GO:0061630 ubiquitin protein ligase activity IBA --
genes like me logo Genes that share ontologies with RNF217: view
genes like me logo Genes that share phenotypes with RNF217: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RNF217 Gene

Localization for RNF217 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RNF217 Gene

Membrane; Single-pass membrane protein.

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 RNF217 gene
Compartment Confidence
cytosol 5
plasma membrane 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for RNF217 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex IBA --
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with RNF217: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RNF217 Gene

Pathways & Interactions for RNF217 Gene

genes like me logo Genes that share pathways with RNF217: view

UniProtKB/Swiss-Prot Q8TC41-RN217_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for RNF217 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination TAS,IBA --
GO:0016567 protein ubiquitination IEA --
GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process IBA --
GO:0042787 protein ubiquitination involved in ubiquitin-dependent protein catabolic process ISS --
genes like me logo Genes that share ontologies with RNF217: view

No data available for SIGNOR curated interactions for RNF217 Gene

Drugs & Compounds for RNF217 Gene

No Compound Related Data Available

Transcripts for RNF217 Gene

Unigene Clusters for RNF217 Gene

Ring finger protein 217:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for RNF217 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b
SP1:
SP2: - -

Relevant External Links for RNF217 Gene

GeneLoc Exon Structure for
RNF217
ECgene alternative splicing isoforms for
RNF217

Expression for RNF217 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RNF217 Gene

NURSA nuclear receptor signaling pathways regulating expression of RNF217 Gene:

RNF217

SOURCE GeneReport for Unigene cluster for RNF217 Gene:

Hs.368639
genes like me logo Genes that share expression patterns with RNF217: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for RNF217 Gene

Orthologs for RNF217 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RNF217 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RNF217 33 34
  • 99.78 (n)
cow
(Bos Taurus)
Mammalia RNF217 33 34
  • 94.74 (n)
rat
(Rattus norvegicus)
Mammalia Rnf217 33
  • 92.61 (n)
dog
(Canis familiaris)
Mammalia RNF217 33 34
  • 91.7 (n)
mouse
(Mus musculus)
Mammalia Rnf217 33 16 34
  • 85.71 (n)
oppossum
(Monodelphis domestica)
Mammalia RNF217 34
  • 39 (a)
OneToOne
chicken
(Gallus gallus)
Aves RNF217 34
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RNF217 34
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rnf217 33
  • 72.78 (n)
zebrafish
(Danio rerio)
Actinopterygii rnf217 33 34
  • 59.31 (n)
Species where no ortholog for RNF217 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 RNF217 Gene

ENSEMBL:
Gene Tree for RNF217 (if available)
TreeFam:
Gene Tree for RNF217 (if available)

Paralogs for RNF217 Gene

No data available for Paralogs for RNF217 Gene

Variants for RNF217 Gene

Sequence variations from dbSNP and Humsavar for RNF217 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000022077 -- 124,971,361(+) A/C genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant
rs1000114160 -- 125,065,021(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000116164 -- 125,081,105(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000124707 -- 125,012,101(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000153291 -- 125,014,016(+) T/C genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RNF217 Gene

Variant ID Type Subtype PubMed ID
esv3571385 CNV loss 25503493
esv3610677 CNV gain 21293372
esv3610678 CNV gain 21293372
nsv1029255 CNV gain 25217958
nsv5466 CNV deletion 18451855
nsv604599 CNV loss 21841781
nsv819530 CNV gain 19587683
nsv830795 CNV loss 17160897

Variation tolerance for RNF217 Gene

Residual Variation Intolerance Score: 70% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.90; 59.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RNF217 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RNF217

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RNF217 Gene

Disorders for RNF217 Gene

Additional Disease Information for RNF217

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

No disorders were found for RNF217 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RNF217 Gene

Publications for RNF217 Gene

  1. Identification and characterization of OSTL (RNF217) encoding a RING-IBR-RING protein adjacent to a translocation breakpoint involving ETV6 in childhood ALL. (PMID: 25298122) Fontanari Krause LM … Bohlander SK (Scientific reports 2014) 2 3 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. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PMID: 18978678) Vieira AR … Marazita ML (Genetics in medicine : official journal of the American College of Medical Genetics 2008) 3 44 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 58

Products for RNF217 Gene

Sources for RNF217 Gene

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