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Aliases for RNF216 Gene

Aliases for RNF216 Gene

  • Ring Finger Protein 216 2 3
  • Ubiquitin-Conjugating Enzyme 7-Interacting Protein 1 3 4
  • Zinc Finger Protein Inhibiting NF-Kappa-B 3 4
  • RING-Type E3 Ubiquitin Transferase RNF216 3 4
  • Triad Domain-Containing Protein 3 3 4
  • RING Finger Protein 216 4 5
  • UBCE7IP1 3 4
  • TRIAD3 3 4
  • ZIN 3 4
  • E3 Ubiquitin-Protein Ligase RNF216 3
  • EC 2.3.2.27 4
  • CAHH 3
  • U7I1 3

External Ids for RNF216 Gene

Previous GeneCards Identifiers for RNF216 Gene

  • GC07M005627

Summaries for RNF216 Gene

Entrez Gene Summary for RNF216 Gene

  • This gene encodes a cytoplasmic protein which specifically colocalizes and interacts with the serine/threonine protein kinase, receptor-interacting protein (RIP). Zinc finger domains of the encoded protein are required for its interaction with RIP and for inhibition of TNF- and IL1-induced NF-kappa B activation pathways. The encoded protein may also function as an E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes and transfers it to substrates. Several alternatively spliced transcript variants have been described for this locus but the full-length natures of only some are known. [provided by RefSeq, Jul 2008]

GeneCards Summary for RNF216 Gene

RNF216 (Ring Finger Protein 216) is a Protein Coding gene. Diseases associated with RNF216 include Cerebellar Ataxia And Hypogonadotropic Hypogonadism and Hypogonadotropism. Among its related pathways are TRAF Pathway and Innate Immune System. GO annotations related to this gene include ligase activity.

UniProtKB/Swiss-Prot for RNF216 Gene

  • Isoform 1 acts as an E3 ubiquitin ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their degradation by the proteasome. Promotes degradation of TRAF3, TLR4 and TLR9. Contributes to the regulation of antiviral responses. Down-regulates activation of NF-kappa-B, IRF3 activation and IFNB production. Isoform 3 inhibits TNF and IL-1 mediated activation of NF-kappa-B. Promotes TNF and RIP mediated apoptosis.

Gene Wiki entry for RNF216 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RNF216 Gene

Genomics for RNF216 Gene

Regulatory Elements for RNF216 Gene

Enhancers for RNF216 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
GH07G005687 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.9 +87.0 87013 15.0 HDGF PKNOX1 WRNIP1 SIN3A FEZF1 YY1 TCF12 ELK1 ZNF143 FOS USP42 RNF216P1 ENSG00000198580 C7orf26 ENSG00000228010 ACTB ZNF316 FBXL18 MIR589 FSCN1
GH07G005780 1.1 ENCODE 8.2 +0.4 376 1.8 HDGF PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ZNF207 RNF216P1 USP42 C7orf26 RNF216 PIR40049
GH07G005669 1.5 FANTOM5 Ensembl ENCODE dbSUPER 6 +110.3 110254 4.2 BHLHE40 HLF CEBPB MAX NR2F2 ZFHX2 ZNF316 POLR2A CEBPA IKZF1 RNF216 ZNF890P USP42 TNRC18 FBXL18 EIF2AK1 WIPI2 RNF216-IT1 FSCN1
GH07G005772 1.1 Ensembl ENCODE 7.8 +7.9 7867 2.9 HDGF PKNOX1 NFIB ARNT RAD21 ZEB1 ZNF366 ZSCAN5C FOS SMARCA5 RNF216P1 USP42 RNF216 PIR40049
GH07G005755 0.9 ENCODE 7.6 +25.8 25803 1.5 HDAC1 ATF1 CHAMP1 YY1 ZNF766 ZNF366 ZSCAN5C FOS CEBPB ZNF592 RNF216 PIR40049
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RNF216 on UCSC Golden Path with GeneCards custom track

Promoters for RNF216 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000208144 439 1800 HDGF PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ZNF207

Genomic Location for RNF216 Gene

Chromosome:
7
Start:
5,620,041 bp from pter
End:
5,781,739 bp from pter
Size:
161,699 bases
Orientation:
Minus strand

Genomic View for RNF216 Gene

Genes around RNF216 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RNF216 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RNF216 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RNF216 Gene

Proteins for RNF216 Gene

  • Protein details for RNF216 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NWF9-RN216_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase RNF216
    Protein Accession:
    Q9NWF9
    Secondary Accessions:
    • Q6Y691
    • Q75ML7
    • Q7Z2H7
    • Q7Z7C1
    • Q8NHW7
    • Q9NYT1

    Protein attributes for RNF216 Gene

    Size:
    866 amino acids
    Molecular mass:
    99406 Da
    Quaternary structure:
    • Interacts with UBE2L3 and to some extent with UBE2L6. Interacts with TRAF3, TLR3, TLR4, TLR5 and TLR9. Isoform 3/ZIN binds RIPK1 and HIV VIF.
    SequenceCaution:
    • Sequence=BAA91422.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for RNF216 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RNF216 Gene

Post-translational modifications for RNF216 Gene

  • Auto-ubiquitinated.
  • Ubiquitination at isoforms=2408, Lys411, isoforms=2419, isoforms=2, 3448, Lys482, isoforms=2, 3611, Lys641, Lys676, isoforms=2, 3715, Lys723, and isoforms=2, 3830
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RNF216 Gene

Domains & Families for RNF216 Gene

Gene Families for RNF216 Gene

Protein Domains for RNF216 Gene

Suggested Antigen Peptide Sequences for RNF216 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NWF9

UniProtKB/Swiss-Prot:

RN216_HUMAN :
  • The RING-type zinc finger domain mediates binding to an E2 ubiquitin-conjugating enzyme.
Domain:
  • The RING-type zinc finger domain mediates binding to an E2 ubiquitin-conjugating enzyme.
genes like me logo Genes that share domains with RNF216: view

Function for RNF216 Gene

Molecular function for RNF216 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:
Isoform 1 acts as an E3 ubiquitin ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their degradation by the proteasome. Promotes degradation of TRAF3, TLR4 and TLR9. Contributes to the regulation of antiviral responses. Down-regulates activation of NF-kappa-B, IRF3 activation and IFNB production. Isoform 3 inhibits TNF and IL-1 mediated activation of NF-kappa-B. Promotes TNF and RIP mediated apoptosis.

Enzyme Numbers (IUBMB) for RNF216 Gene

Gene Ontology (GO) - Molecular Function for RNF216 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19893624
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0061630 ubiquitin protein ligase activity EXP 19893624
genes like me logo Genes that share ontologies with RNF216: view
genes like me logo Genes that share phenotypes with RNF216: view

Human Phenotype Ontology for RNF216 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RNF216 Gene

MGI Knock Outs for RNF216:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for RNF216 Gene

Localization for RNF216 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RNF216 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 RNF216 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 1

Gene Ontology (GO) - Cellular Components for RNF216 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with RNF216: view

Pathways & Interactions for RNF216 Gene

genes like me logo Genes that share pathways with RNF216: view

UniProtKB/Swiss-Prot Q9NWF9-RN216_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for RNF216 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0016032 viral process IEA --
GO:0016567 protein ubiquitination IEA --
GO:0032480 negative regulation of type I interferon production TAS --
GO:0032648 regulation of interferon-beta production IDA 19893624
genes like me logo Genes that share ontologies with RNF216: view

No data available for SIGNOR curated interactions for RNF216 Gene

Transcripts for RNF216 Gene

Unigene Clusters for RNF216 Gene

Ring finger protein 216:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RNF216 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^
SP1: - - -
SP2: - - -
SP3:
SP4: - - -
SP5:
SP6: -
SP7: - -
SP8: -
SP9:
SP10:

ExUns: 21a · 21b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for RNF216 Gene

GeneLoc Exon Structure for
RNF216
ECgene alternative splicing isoforms for
RNF216

Expression for RNF216 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RNF216 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RNF216 Gene

This gene is overexpressed in Testis (40.7) and Blymphocyte (28.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RNF216 Gene



Protein tissue co-expression partners for RNF216 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RNF216 Gene:

RNF216

SOURCE GeneReport for Unigene cluster for RNF216 Gene:

Hs.487458

mRNA Expression by UniProt/SwissProt for RNF216 Gene:

Q9NWF9-RN216_HUMAN
Tissue specificity: Ubiquitous, with the highest levels of expression in testis and peripheral blood leukocytes.

Evidence on tissue expression from TISSUES for RNF216 Gene

  • Nervous system(4.6)
  • Kidney(4.2)
  • Lung(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RNF216 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
  • pituitary gland
Thorax:
  • breast
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with RNF216: view

Primer Products

No data available for mRNA differential expression in normal tissues for RNF216 Gene

Orthologs for RNF216 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RNF216 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RNF216 34 35
  • 99.64 (n)
dog
(Canis familiaris)
Mammalia RNF216 34 35
  • 91.4 (n)
cow
(Bos Taurus)
Mammalia RNF216 34 35
  • 87.5 (n)
mouse
(Mus musculus)
Mammalia Rnf216 34 16 35
  • 87.36 (n)
rat
(Rattus norvegicus)
Mammalia Rnf216 34
  • 86.56 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 86 (a)
OneToMany
-- 35
  • 56 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia RNF216 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 35
  • 86 (a)
OneToMany
RNF216 34
  • 68.53 (n)
-- 35
  • 62 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia RNF216 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rnf216 34
  • 63.75 (n)
Str.14705 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.3742 34
zebrafish
(Danio rerio)
Actinopterygii rnf216 34 35
  • 61.07 (n)
Dr.6875 34
Species where no ortholog for RNF216 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 RNF216 Gene

ENSEMBL:
Gene Tree for RNF216 (if available)
TreeFam:
Gene Tree for RNF216 (if available)

Paralogs for RNF216 Gene

(5) SIMAP similar genes for RNF216 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for RNF216 Gene

genes like me logo Genes that share paralogs with RNF216: view

No data available for Paralogs for RNF216 Gene

Variants for RNF216 Gene

Sequence variations from dbSNP and Humsavar for RNF216 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs387907368 Pathogenic, Gordon Holmes syndrome (GDHS) [MIM:212840] 5,641,285(-) CTTGC(C/T)GCTGT reference, missense
VAR_070048 Gordon Holmes syndrome (GDHS) [MIM:212840]
rs148642312 Pathogenic 5,721,061(+) GCTCA(A/C/T)AGAAC reference, missense
rs373785974 Pathogenic 5,741,113(+) CTGCT(A/C/G)GTCTT reference, missense, utr-variant-5-prime
rs387907369 Pathogenic 5,715,095(-) GAGTG(A/T)CTCAT reference, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for RNF216 Gene

Variant ID Type Subtype PubMed ID
dgv11169n54 CNV gain 21841781
dgv3482n106 OTHER inversion 24896259
dgv402n21 CNV loss 19592680
dgv6241n100 CNV gain 25217958
dgv798n27 CNV gain 19166990
esv2665342 CNV deletion 23128226
esv2733915 CNV deletion 23290073
esv2762646 CNV loss 21179565
esv2764038 CNV gain 21179565
esv3541108 CNV deletion 23714750
esv3571586 CNV loss 25503493
esv3576285 CNV gain 25503493
esv3611979 CNV loss 21293372
esv3611981 CNV loss 21293372
esv3611982 CNV gain 21293372
esv3611983 CNV gain 21293372
esv3611984 CNV gain 21293372
esv3611985 CNV loss 21293372
esv3891028 CNV gain 25118596
nsv1020103 CNV gain 25217958
nsv1028601 CNV gain 25217958
nsv1028652 CNV loss 25217958
nsv1034883 CNV loss 25217958
nsv1114910 CNV deletion 24896259
nsv1132034 CNV deletion 24896259
nsv436904 CNV insertion 17901297
nsv464296 CNV gain 19166990
nsv471315 CNV gain 18288195
nsv605988 CNV gain 21841781
nsv830890 CNV loss 17160897
nsv830891 CNV gain 17160897
nsv970440 CNV duplication 23825009

Variation tolerance for RNF216 Gene

Residual Variation Intolerance Score: 5.93% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.50; 43.77% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RNF216 Gene

Human Gene Mutation Database (HGMD)
RNF216
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RNF216

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RNF216 Gene

Disorders for RNF216 Gene

MalaCards: The human disease database

(4) MalaCards diseases for RNF216 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cerebellar ataxia and hypogonadotropic hypogonadism
  • cerebellar ataxia - hypogonadism
hypogonadotropism
  • hypogonadism
pnpla6-related disorders
baraitser-winter syndrome
  • brws
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

RN216_HUMAN
  • Gordon Holmes syndrome (GDHS) [MIM:212840]: A disease characterized by cerebellar symptoms and signs of sex steroid deficiency. Clinical features include cerebellar and brain stem atrophy, cerebellar ataxia, hypothalamic LHRH deficiency, hypogonadotrophic hypogonadism, lack of secondary sexual characteristics, and infertility. {ECO:0000269 PubMed:23656588}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RNF216

Genetic Association Database (GAD)
RNF216
Human Genome Epidemiology (HuGE) Navigator
RNF216
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RNF216
genes like me logo Genes that share disorders with RNF216: view

No data available for Genatlas for RNF216 Gene

Publications for RNF216 Gene

  1. Ring finger protein ZIN interacts with human immunodeficiency virus type 1 Vif. (PMID: 15367624) Feng F. … Li P. (J. Virol. 2004) 3 4 22 64
  2. Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. (PMID: 23656588) Margolin D.H. … Seminara S.B. (N. Engl. J. Med. 2013) 3 4 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 E3 ubiquitin ligase Triad3A negatively regulates the RIG-I/MAVS signaling pathway by targeting TRAF3 for degradation. (PMID: 19893624) Nakhaei P. … Hiscott J. (PLoS Pathog. 2009) 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 RNF216 Gene

Sources for RNF216 Gene

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