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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RNF8 Gene

protein-coding   GIFtS: 62
GCID: GC06P037321

Ring Finger Protein 8, E3 Ubiquitin Protein Ligase

(Previous names: ring finger protein (C3HC4 type) 8, ring finger protein...)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Ring Finger Protein 8, E3 Ubiquitin Protein Ligase1 2     C3HC4-Type Zinc Finger Protein2
Ring Finger Protein (C3HC4 Type) 81 2     E3 Ubiquitin-Protein Ligase RNF82
RING Finger Protein 81 3     UBC13/UEV-Interacting Ring Finger Protein2
hRNF82 3     EC 6.3.2.-3
KIAA06463 5     EC 6.3.28

External Ids:    HGNC: 100711   Entrez Gene: 90252   Ensembl: ENSG000001121307   OMIM: 6116855   UniProtKB: O760643   

Export aliases for RNF8 gene to outside databases

Previous GC identifers: GC06P037324 GC06P037368 GC06P037429 GC06P037040


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RNF8 Gene:
The protein encoded by this gene contains a RING finger motif and an FHA domain. This protein has been shown to
interact with several class II ubiquitin-conjugating enzymes (E2), including UBE2E1/UBCH6, UBE2E2, and UBE2E3,
and may act as an ubiquitin ligase (E3) in the ubiquitination of certain nuclear proteins. This protein is also
known to play a role in the DNA damage response and depletion of this protein causes cell growth inhibition and
cell cycle arrest. Alternative splicing results in multiple transcript variants. (provided by RefSeq, Feb 2012)

GeneCards Summary for RNF8 Gene: 
RNF8 (ring finger protein 8, E3 ubiquitin protein ligase) is a protein-coding gene. Diseases associated with RNF8 include morgagni cataract, and riddle syndrome. GO annotations related to this gene include ubiquitin-protein ligase activity and protein homodimerization activity.

UniProtKB/Swiss-Prot: RNF8_HUMAN, O76064
Function: E3 ubiquitin-protein ligase that plays a key role in DNA damage signaling via 2 distinct roles: by
mediating the 'Lys-63'-linked ubiquitination of histones H2A and H2AX and promoting the recruitment of DNA repair
proteins at double-strand breaks (DSBs) sites, and by catalyzing 'Lys-48'-linked ubiquitination to remove target
proteins from DNA damage sites. Following DNA DSBs, it is recruited to the sites of damage by ATM-phosphorylated
MDC1 and catalyzes the 'Lys-63'-linked ubiquitination of histones H2A and H2AX, thereby promoting the formation
of TP53BP1 and BRCA1 ionizing radiation-induced foci (IRIF). Also controls the recruitment of UIMC1-BRCC3
(RAP80-BRCC36) and PAXIP1/PTIP to DNA damage sites. Also recruited at DNA interstrand cross-links (ICLs) sites
and catalyzes 'Lys-63'-linked ubiquitination of histones H2A and H2AX, leading to recruitment of FAAP20/C1orf86
and Fanconi anemia (FA) complex, followed by interstrand cross-link repair. H2A ubiquitination also mediates the
ATM-dependent transcriptional silencing at regions flanking DSBs in cis, a mechanism to avoid collision between
transcription and repair intermediates. Promotes the formation of 'Lys-63'-linked polyubiquitin chains via
interactions with the specific ubiquitin-conjugating UBE2N/UBC13 and ubiquitinates non-histone substrates such as
PCNA. Substrates that are polyubiquitinated at 'Lys-63' are usually not targeted for degradation. Also catalyzes
the formation of 'Lys-48'-linked polyubiquitin chains via interaction with the ubiquitin-conjugating
UBE2L6/UBCH8, leading to degradation of substrate proteins such as CHEK2, JMJD2A/KDM4A and KU80/XRCC5: it is
still unclear how the preference toward 'Lys-48'- versus 'Lys-63'-linked ubiquitination is regulated but it could
be due to RNF8 ability to interact with specific E2 specific ligases. For instance, interaction with
phosphorylated HERC2 promotes the association between RNF8 and UBE2N/UBC13 and favors the specific formation of
'Lys-63'-linked ubiquitin chains. Promotes non-homologous end joining (NHEJ) by promoting the 'Lys-48'-linked
ubiquitination and degradation the of KU80/XRCC5. Following DNA damage, mediates the ubiquitination and
degradation of JMJD2A/KDM4A in collaboration with RNF168, leading to unmask H4K20me2 mark and promote the
recruitment of TP53BP1 at DNA damage sites. In addition to its function in damage signaling, also plays a role in
higher-order chromatin structure by mediating extensive chromatin decondensation. Involved in the activation of
ATM by promoting histone H2B ubiquitination, which indirectly triggers histone H4 'Lys-16' acetylation (H4K16ac),
establishing a chromatin environment that promotes efficient activation of ATM kinase. Required in the testis,
where it plays a role in the replacement of histones during spermatogenesis. At uncapped telomeres, promotes the
joining of deprotected chromosome ends by inducing H2A ubiquitination and TP53BP1 recruitment, suggesting that it
may enhance cancer development by aggraving telomere-induced genome instability in case of telomeric crisis.
Promotes the assembly of RAD51 at DNA DSBs in the absence of BRCA1 and TP53BP1 Also involved in class switch
recombination in immune system, via its role in regulation of DSBs repair. May be required for proper exit from
mitosis after spindle checkpoint activation and may regulate cytokinesis. May play a role in the regulation of
RXRA-mediated transcriptional activity. Not involved in RXRA ubiquitination by UBE2E2

Gene Wiki entry for RNF8 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.2  NT_007592.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RNF8 gene promoter:
         HFH-3   Pax-2   Pax-2a   Nkx2-5   RORalpha1   FOXJ2 (long isoform)   FOXO4   FOXJ2   MRF-2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRNF8 promoter sequence
   Search SABiosciences Chromatin IP Primers for RNF8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RNF8


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p21.2   HGNC cytogenetic band: 6p21.3

RNF8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RNF8 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P037321:  view genomic region     (about GC identifiers)

Start:
37,321,748 bp from pter      End:
37,362,514 bp from pter
Size:
40,767 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RNF8_HUMAN, O76064 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase RNF8  
Size: 485 amino acids; 55518 Da
Subunit: Homodimer. Forms a E2-E3 ubiquitin ligase complex composed of the RNF8 homodimer and a E2 heterodimer of
UBE2N and UBE2V2. Interacts with class III E2s, including UBE2E1, UBE2E2, and UBE2E3 and with UBE2N. Interacts
with RXRA. Interacts (via FHA domain) with ATM-phosphorylated MDC1. Interacts (via FHA domain) with 'Thr-4827'
phosphorylated HERC2 (via C-terminus). Interacts (via FHA domain) with phosphorylated human herpesvirus 1 ICP0
protein; leading to RNF8 degradation by the proteasome
Subcellular location: Nucleus. Midbody. Chromosome, telomere (By similarity). Note=Recruited at uncapped telomeres
(By similarity). Following DNA double-strand breaks, recruited to the sites of damage. During prophase,
concomitant with nuclear envelope breakdown, localizes throughout the cell, with a dotted pattern. In telophase,
again in the nucleus and also with a discrete dotted pattern in the cytoplasm. In late telophase and during
cytokinesis, localizes in the midbody of the tubulin bridge joining the daughter cells. Does not seem to be
associated with condensed chromosomes at any time during the cell cycle
Developmental stage: Low levels at the G1-S boundary increase in intensity during S phase and until the end of the
G2 phase. Abruptly decreases in late mitosis (at protein level). Barely detectable in anaphase
Caution: According to a well-established model, RNF8 initiate H2A 'Lys-63'-linked ubiquitination leading to
recruitment of RNF168 to amplify H2A 'Lys-63'-linked ubiquitination (PubMed:19203578 and PubMed:19203579).
However, other data suggest that RNF168 is the priming ubiquitin ligase by mediating monoubiquitination of
'Lys-13' and 'Lys-15' of nucleosomal histone H2A (H2AK13Ub and H2AK15Ub respectively) (PubMed:22980979). These
data suggest that RNF168 might be recruited to DSBs sites in a RNF8-dependent manner by binding to non-histone
proteins ubiquitinated via 'Lys-63'-linked and initiates monoubiquitination of H2A, which is then amplified by
RNF8 (PubMed:22980979). Additional evidences are however required to confirm these data
Sequence caution: Sequence=BAA31621.2; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAG60572.1; Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=EAX03945.1; Type=Erroneous
gene model prediction;
4 PDB 3D structures from and Proteopedia for RNF8:
2CSW (3D)        2PIE (3D)        4AYC (3D)        4EPO (3D)    
Secondary accessions: A6NN24 A8MYC0 B4DPG0 Q53H16 Q5NKW5
Alternative splicing: 2 isoforms:  O76064-1   O76064-2   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RNF8: NX_O76064

Explore proteomics data for RNF8 at MOPED 

Post-translational modifications:

  • UniProtKB: Autoubiquitinated through 'Lys-48' and 'Lys-63' of ubiquitin. 'Lys-63' polyubiquitination is mediated by UBE2N.
    'Lys-29'-type polyubiquitination is also observed, but it doesn't require its own functional RING-type zinc
    finger
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O76064

  • 4/5 DME Specific Peptides for RNF8 (O76064) (see all 5)
     CPLMISR  RSWCLRR  DNKSLNGVW  IIQAKNKEL 

    RNF8 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RNF8 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_003949.1  NP_898901.1  

    ENSEMBL proteins: 
     ENSP00000362578   ENSP00000420268   ENSP00000229866   ENSP00000417736   ENSP00000419859  
     ENSP00000418879   ENSP00000417599   ENSP00000377961  

    Human Recombinant Protein Products for RNF8: 
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    Novus Biologicals RNF8 Lysates
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    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for RNF8 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000151ubiquitin ligase complex IDA18001824
    GO:0000781chromosome, telomeric region ISS--
    GO:0005634nucleus IDA18001824
    GO:0030496midbody IEA--
    GO:0035861site of double-strand break IDA--

    RNF8 for ontologies           About GeneDecksing



    RNF8 Antibody Products: 
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    Assay Products for RNF8: 
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    Cloud-Clone Corp. ELISAs for RNF8 
    Cloud-Clone Corp. CLIAs for RNF8


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    RNF: RING-type (C3HC4) zinc fingers

    5/6 InterPro protein domains (see all 6):
     IPR017907 Znf_RING_CS
     IPR008984 SMAD_FHA_domain
     IPR001841 Znf_RING
     IPR013083 Znf_RING/FYVE/PHD
     IPR017335 E3_Ub_ligase_RNF8

    Graphical View of Domain Structure for InterPro Entry O76064

    ProtoNet protein and cluster: O76064

    1 Blocks protein domain: IPB001841 Zn-finger

    UniProtKB/Swiss-Prot: RNF8_HUMAN, O76064
    Domain: The FHA domain specifically recognizes and binds ATM-phosphorylated MDC1 and 'Thr-4827' phosphorylated
    HERC2
    Similarity: Belongs to the RNF8 family
    Similarity: Contains 1 FHA domain
    Similarity: Contains 1 RING-type zinc finger


    RNF8 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RNF8_HUMAN, O76064
    Function: E3 ubiquitin-protein ligase that plays a key role in DNA damage signaling via 2 distinct roles: by
    mediating the 'Lys-63'-linked ubiquitination of histones H2A and H2AX and promoting the recruitment of DNA repair
    proteins at double-strand breaks (DSBs) sites, and by catalyzing 'Lys-48'-linked ubiquitination to remove target
    proteins from DNA damage sites. Following DNA DSBs, it is recruited to the sites of damage by ATM-phosphorylated
    MDC1 and catalyzes the 'Lys-63'-linked ubiquitination of histones H2A and H2AX, thereby promoting the formation
    of TP53BP1 and BRCA1 ionizing radiation-induced foci (IRIF). Also controls the recruitment of UIMC1-BRCC3
    (RAP80-BRCC36) and PAXIP1/PTIP to DNA damage sites. Also recruited at DNA interstrand cross-links (ICLs) sites
    and catalyzes 'Lys-63'-linked ubiquitination of histones H2A and H2AX, leading to recruitment of FAAP20/C1orf86
    and Fanconi anemia (FA) complex, followed by interstrand cross-link repair. H2A ubiquitination also mediates the
    ATM-dependent transcriptional silencing at regions flanking DSBs in cis, a mechanism to avoid collision between
    transcription and repair intermediates. Promotes the formation of 'Lys-63'-linked polyubiquitin chains via
    interactions with the specific ubiquitin-conjugating UBE2N/UBC13 and ubiquitinates non-histone substrates such as
    PCNA. Substrates that are polyubiquitinated at 'Lys-63' are usually not targeted for degradation. Also catalyzes
    the formation of 'Lys-48'-linked polyubiquitin chains via interaction with the ubiquitin-conjugating
    UBE2L6/UBCH8, leading to degradation of substrate proteins such as CHEK2, JMJD2A/KDM4A and KU80/XRCC5: it is
    still unclear how the preference toward 'Lys-48'- versus 'Lys-63'-linked ubiquitination is regulated but it could
    be due to RNF8 ability to interact with specific E2 specific ligases. For instance, interaction with
    phosphorylated HERC2 promotes the association between RNF8 and UBE2N/UBC13 and favors the specific formation of
    'Lys-63'-linked ubiquitin chains. Promotes non-homologous end joining (NHEJ) by promoting the 'Lys-48'-linked
    ubiquitination and degradation the of KU80/XRCC5. Following DNA damage, mediates the ubiquitination and
    degradation of JMJD2A/KDM4A in collaboration with RNF168, leading to unmask H4K20me2 mark and promote the
    recruitment of TP53BP1 at DNA damage sites. In addition to its function in damage signaling, also plays a role in
    higher-order chromatin structure by mediating extensive chromatin decondensation. Involved in the activation of
    ATM by promoting histone H2B ubiquitination, which indirectly triggers histone H4 'Lys-16' acetylation (H4K16ac),
    establishing a chromatin environment that promotes efficient activation of ATM kinase. Required in the testis,
    where it plays a role in the replacement of histones during spermatogenesis. At uncapped telomeres, promotes the
    joining of deprotected chromosome ends by inducing H2A ubiquitination and TP53BP1 recruitment, suggesting that it
    may enhance cancer development by aggraving telomere-induced genome instability in case of telomeric crisis.
    Promotes the assembly of RAD51 at DNA DSBs in the absence of BRCA1 and TP53BP1 Also involved in class switch
    recombination in immune system, via its role in regulation of DSBs repair. May be required for proper exit from
    mitosis after spindle checkpoint activation and may regulate cytokinesis. May play a role in the regulation of
    RXRA-mediated transcriptional activity. Not involved in RXRA ubiquitination by UBE2E2

         Genatlas biochemistry entry for RNF8:
    RING finger protein 8,same ? as RING1

         Enzyme Numbers (IUBMB): EC 6.3.2.-1 EC 6.3.22

         Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003682chromatin binding IDA18001824
    GO:0004842ubiquitin-protein ligase activity IDA18001824
    GO:0005515protein binding IPI18001824
    GO:0008270zinc ion binding IDA--
    GO:0016881acid-amino acid ligase activity ----
         
    RNF8 for ontologies           About GeneDecksing


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Rnf8):
     cellular  endocrine/exocrine gland  growth/size  hematopoietic system  immune system 
     integument  mortality/aging  no phenotypic analysis  reproductive system  tumorigenesis 

    RNF8 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for RNF8 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for RNF8

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RNF8 
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    miRNA
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    hsa-miR-4317 hsa-let-7d hsa-miR-3074-3p hsa-let-7g hsa-miR-4314 hsa-let-7a hsa-miR-3116 hsa-miR-889
    SwitchGear 3'UTR luciferase reporter plasmidRNF8 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for RNF8 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Ubiquitin-Proteasome Dependent Proteolysis
    Ubiquitin-Proteasome Dependent Proteolysis
    2SMAD Signaling Network
    SMAD Signaling Network

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for RNF8
        SMAD Signaling Network
    Ubiquitin-Proteasome Dependent Proteolysis


    UniProtKB/Swiss-Prot: RNF8_HUMAN, O76064
    Pathway: Protein modification; protein ubiquitination

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RNF8

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/56 Interacting proteins for RNF8 (O760641, 2, 3 ENSP000003625784) via UniProtKB, MINT, STRING, and/or I2D (see all 56)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000237095Q146761, 3, ENSP000004091674EBI-373337,EBI-495644 I2D: score=3 STRING: ENSP00000409167
    ENSG00000206481Q146761, 3, ENSP000003730604EBI-373337,EBI-495644 I2D: score=3 STRING: ENSP00000373060
    MDC1Q146761, 3, ENSP000003655884EBI-373337,EBI-495644 I2D: score=3 STRING: ENSP00000365588
    ENSG00000224587Q146761, 3EBI-373337,EBI-495644 I2D: score=3 
    ENSG00000225589Q146761, 3EBI-373337,EBI-495644 I2D: score=3 
    About this table

    Gene Ontology (GO): 5/20 biological process terms (GO ID links to tree view) (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006302double-strand break repair IDA18001824
    GO:0006303double-strand break repair via nonhomologous end joining ISS--
    GO:0006511ubiquitin-dependent protein catabolic process IDA--
    GO:0006974response to DNA damage stimulus IDA--
    GO:0007067mitosis IEA--

    RNF8 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RNF8

    4 HMDB Compounds for RNF8    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    Search CenterWatch for drugs/clinical trials and news about RNF8

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RNF8 gene (2 alternative transcripts): 
    NM_003958.3  NM_183078.2  

    Unigene Cluster for RNF8:

    Ring finger protein 8, E3 ubiquitin protein ligase
    Hs.485278  [show with all ESTs]
    Unigene Representative Sequence: NR_046399
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373479(uc003onq.4 uc003onr.4 uc011dtx.2) ENST00000494320
    ENST00000229866 ENST00000487950 ENST00000479516 ENST00000469316 ENST00000469731
    ENST00000498460 ENST00000394443
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AB014546.1 AF334675.1 AK022075.1 AK222765.1 AK298319.1 AK308840.1 BC007517.2 BT007446.1 
    NR_046399.1 

    10 DOTS entries:

    DT.108238  DT.101980849  DT.100781138  DT.95276555  DT.100781146  DT.100774558  DT.75106282  DT.100781145 
    DT.75102512  DT.100724887 

    24/305 AceView cDNA sequences (see all 305):

    CR624127 BC007517 CB155733 BU622034 AA612845 BQ654162 BF116135 W56595 
    AI191329 BU167696 CA418096 AA234963 AI868546 BQ286637 BQ643542 BM909718 
    AA976167 BQ645395 NM_183078 Z45431 BP370221 BQ024173 AI754316 BU753124 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for RNF8 (see all 7)    About this scheme

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


    ECgene alternative splicing isoforms for RNF8

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RNF8 expression in normal human tissues (normalized intensities)      RNF8 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTGCCTCTG
    RNF8 Expression
    About this image


    RNF8 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Ovary (Reproductive System)
             oocyte   
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...
     
     Neuron (Nervous System)
             nerve   

    See RNF8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RNF8

    SOURCE GeneReport for Unigene cluster: Hs.485278

    UniProtKB/Swiss-Prot: RNF8_HUMAN, O76064
    Tissue specificity: Ubiquitous. In fetal tissues, highest expression in brain, thymus and liver. In adult tissues,
    highest levels in brain and testis, lowest levels in peripheral blood cells

        SABiosciences Expression via Pathway-Focused PCR Arrays including RNF8: 
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              Ubiquitin Ligases in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for RNF8 gene from 5/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rnf85 ring finger protein 8   --   17 (15.45 cM) 29614790 
    chicken
    (Gallus gallus)
    Aves RNF86
    Uncharacterized protein
    53(a)
    1 ↔ 1
    3(29544889-29557969)
    lizard
    (Anolis carolinensis)
    Reptilia RNF86
    Uncharacterized protein
    54(a)
    1 ↔ 1
    1(228214308-228234917)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC046256.12   -- 78.25(n)    BC046256.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC044545.12   -- 75.52(n)    BC044545.1 


    ENSEMBL Gene Tree for RNF8 (if available)
    TreeFam Gene Tree for RNF8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/823 SNPs in RNF8 are shown (see all 823)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0520974
    ----see VAR_0520972 I V mis40--------
    rs1954021,2
    C,H--37319898(+) gccacG/Acttgg 3 -- us2k111Minor allele frequency- A:0.04NA WA CSA EA 372
    rs1460186001,2
    --37320124(+) AGAGAC/TGGTGT 3 -- us2k10--------
    rs113597001,2
    C--37320196(+) TCAAA-/AGTGCT 3 -- us2k10--------
    rs113596991,2
    C--37320297(+) AAAAA-/AGAGAG 3 -- us2k1 trp31Minor allele frequency- A:0.00NA 2
    rs2007845111,2
    --37320327(+) AAGGG-/AGGA  
            
    AGGAA
    3 -- us2k10--------
    rs3722039701,2
    C--37320362(+) AGAGA-/AGAA  
            
    GAAAG
    3 -- us2k10--------
    rs1998874821,2
    --37320384(+) AAGAA-/AAAAG 
            
    AAAAG
    3 -- us2k10--------
    rs722644871,2
    C--37320403(+) AAGAG-/GAAG  
            
    AAGGA
    3 -- us2k10--------
    rs709776521,2
    C--37320405(+) AGGAAGGAA/-  
            
    AGAAA
    3 -- us2k11Minor allele frequency- -:0.00NA 2

    HapMap Linkage Disequilibrium report for RNF8 (37321748 - 37362514 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for RNF8:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2498217CNV Deletion19546169
    esv2731933CNV Deletion23290073
    nsv520294CNV Gain19592680

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 611685    OMIM disorders: --

    8 diseases for RNF8:    About MalaCards
    morgagni cataract    riddle syndrome    cataract    intrahepatic cholangiocarcinoma
    cholangiocarcinoma    fanconi's anemia    anemia    breast cancer

    1 disease from the University of Copenhagen DISEASES database for RNF8:
    Morgagni cataract

    RNF8 for disorders           About GeneDecksing

    Genetic Association Database (GAD): RNF8
    Human Genome Epidemiology (HuGE) Navigator: RNF8 (3 documents)

    Export disorders for RNF8 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RNF8 gene, integrated from 9 sources (see all 76):
    (articles sorted by number of sources associating them with RNF8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9734811)1, 2, 3 Ishikawa K.... Ohara O. (1998)
    2. Isolation, tissue expression, and chromosomal assignment of a novel human gene which encodes a protein with RING finger motif. (PubMed id 9852682)1, 2, 3 Seki N....Saito T. (1998)
    3. N-terminally extended human ubiquitin-conjugating enzymes (E2s) mediate the ubiquitination of RING-finger proteins, ARA54 and RNF8. (PubMed id 11322894)1, 2, 9 Ito K.... Okano Y. (2001)
    4. HERC2 coordinates ubiquitin-dependent assembly of DNA repair factors on damaged chromosomes. (PubMed id 20023648)1, 2, 9 Bekker-Jensen S....Mailand N. (2010)
    5. RNF8 regulates assembly of RAD51 at DNA double-strand breaks in the absence of BRCA1 and 53BP1. (PubMed id 22865450)1, 2 Nakada S.... Matsuo K. (2012)
    6. Viral E3 ubiquitin ligase-mediated degradation of a ce llular E3: viral mimicry of a cellular phosphorylation mark targets the RNF8 FHA domain. (PubMed id 22405594)1, 2 Chaurushiya M.S....Weitzman M.D. (2012)
    7. A new non-catalytic role for ubiquitin ligase RNF8 in unfolding higher-order chromatin structure. (PubMed id 22531782)1, 2 Luijsterburg M.S....Dantuma N.P. (2012)
    8. The E3 ligase RNF8 regulates KU80 removal and NHEJ rep air. (PubMed id 22266820)1, 2 Feng L. and Chen J. (2012)
    9. RNF168 ubiquitinates K13-15 on H2A/H2AX to drive DNA Damage signaling. (PubMed id 22980979)1, 2 Mattiroli F.... Sixma T.K. (2012)
    10. A ubiquitin-binding protein, FAAP20, links RNF8-mediat ed ubiquitination to the Fanconi anemia DNA repair network. (PubMed id 22705371)1, 2 Yan Z....Wang W. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9025 HGNC: 10071 AceView: RNF8 Ensembl:ENSG00000112130 euGenes: HUgn9025
    ECgene: RNF8 H-InvDB: RNF8

    (According to HUGE)
    About This Section
    HUGE: KIAA0646

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RNF8 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RNF8 gene:
    Search GeneIP for patents involving RNF8

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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