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RNF146 Gene

protein-coding   GIFtS: 57
GCID: GC06P127587

Ring Finger Protein 146

Alzheimer's & Parkinson's 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)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Ring Finger Protein 1461 2 3     iduna2
2610509H23Rik2     Dactylidin3
dJ351K20.12     EC 6.3.2.-3
dactylidin2     Iduna3
E3 Ubiquitin-Protein Ligase RNF1462     

External Ids:    HGNC: 213361   Entrez Gene: 818472   Ensembl: ENSG000001185187   OMIM: 6121375   UniProtKB: Q9NTX73   
ORGUL members:         

Export aliases for RNF146 gene to outside databases

Previous GC identifers: GC06P127568 GC06P127629 GC06P125164


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for RNF146 Gene:
RNF146 (ring finger protein 146) is a protein-coding gene. Diseases associated with RNF146 include cherubism, and ischemia. GO annotations related to this gene include poly-ADP-D-ribose binding and ubiquitin-protein ligase activity.

UniProtKB/Swiss-Prot: RN146_HUMAN, Q9NTX7
Function: E3 ubiquitin-protein ligase that specifically binds poly-ADP-ribosylated (PARsylated) proteins and
mediates their ubiquitination and subsequent degradation. May regulate many important biological processes, such
as cell survival and DNA damage response. Acts as an activator of the Wnt signaling pathway by mediating the
ubiquitination of PARsylated AXIN1 and AXIN2, 2 key components of the beta-catenin destruction complex. Acts in
cooperation with tankyrase proteins (TNKS and TNKS2), which mediate PARsylation of target proteins AXIN1, AXIN2,
BLZF1, CASC3, TNKS and TNKS2. Recognizes and binds tankyrase-dependent PARsylated proteins via its WWE domain and
mediates their ubiquitination, leading to their degradation. Different ubiquitin linkage types have been
observed: TNKS2 undergoes ubiquination at 'Lys-48' and 'Lys-63', while AXIN1 is only ubiquitinated at 'Lys-48'.
May regulate TNKS and TNKS2 subcellular location, preventing aggregation at a centrosomal location.
Neuroprotective protein. Protects the brain against N-methyl-D-aspartate (NMDA) receptor-mediated glutamate
excitotoxicity and ischemia, by interfering with PAR-induced cell death, called parthanatos. Prevents nuclear
translocation of AIFM1 in a PAR-binding dependent manner. Does not affect PARP1 activation (By similarity).
Protects against cell death induced by DNA damaging agents, such as N-methyl-N-nitro-N-nitrosoguanidine (MNNG)
and rescues cells from G1 arrest. Promotes cell survival after gamma-irradiation. Facilitates DNA repair

Gene Wiki entry for RNF146 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NT_025741.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RNF146 gene promoter:
         HFH-3   FOXD1   AP-4   N-Myc   SRY   S8   Zic1   STAT3   Zic3   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRNF146 promoter sequence
   Search Chromatin IP Primers for RNF146

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RNF146


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

Entrez Gene cytogenetic band: 6q22.1-q22.33   Ensembl cytogenetic band:  6q22.33   HGNC cytogenetic band: 6q22.1-q22.33

RNF146 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RNF146 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P127587:  view genomic region     (about GC identifiers)

Start:
127,587,755 bp from pter      End:
127,609,712 bp from pter
Size:
21,958 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for RNF146

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: RN146_HUMAN, Q9NTX7 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase RNF146  
Size: 359 amino acids; 38950 Da
Subunit: Can form homooligomers. Interacts with PARsylated AXIN1, AXIN2, BLZF1, CASC3, HIST1H1C, IPO7, LIG3, NCL,
PARP1, XRCC1, XRCC5 and XRCC6. Interacts with DDB1, DHX15, IQGAP1, LRPPRC, PARP2, PRKDC, RUVBL2, TNKS1 and TNKS2.
Binding often leads to interactor ubiquitination, in the presence of the appropriate E1 and E2 enzymes, and
proteasomal degradation
Miscellaneous: Was named dactylidin after the Greek term 'daktylidi' for ring, 'the thing around the finger'
(PubMed:15813938). Was named Iduna after the Norse goddess of protection and eternal youth (PubMed:21602803)
2 PDB 3D structures from and Proteopedia for RNF146:
2D8T (3D)        3V3L (3D)    
Secondary accessions: E1P572 Q6FIB2 Q7L8H4 Q96K03 Q96T06 Q9NTX6
Alternative splicing: 2 isoforms:  Q9NTX7-1   Q9NTX7-2   

Explore the universe of human proteins at neXtProt for RNF146: NX_Q9NTX7

Explore proteomics data for RNF146 at MOPED

Post-translational modifications: 

  • Ubiquitinated; autoubiquitinated. Polyubiquitinated in the presence of UBE2D1, UBE2D2 and UBE2D3.
    Multimonoubiquitinated in the presence of UBE2E1. Not ubiquinated in the presence of UBE2H, CDC34, UBE2L3,
    UBE2L6, nor UBE2C. In the absence of PAR, autoubiquitination occurs on Lys-85, Lys-95 and Lys-176 via 'Lys-11'
    and 'Lys-48' ubiquitin linkages. In the presence of PAR, Lys-131 and Lys-176 are ubiquitinated via 'Lys-6',
    'Lys-33' and 'Lys-48' ubiquitin linkages. Autoubiquitination is enhanced upon PAR-binding1
  • Ubiquitination2 at Lys85, Lys95, Lys131, Lys176
  • Modification sites at PhosphoSitePlus

  • See RNF146 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (8 alternative transcripts): 
    NP_001229773.1  NP_001229774.1  NP_001229775.1  NP_001229778.1  NP_001229779.1  NP_001229780.1  NP_001229781.1  NP_112225.2  

    ENSEMBL proteins: 
     ENSP00000357297   ENSP00000477204   ENSP00000477019   ENSP00000349253   ENSP00000476867  
     ENSP00000477440   ENSP00000476888   ENSP00000476814   ENSP00000477168   ENSP00000476424  
     ENSP00000309365  
    Reactome Protein details: Q9NTX7

    RNF146 Human Recombinant Protein Products:

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

    Selected InterPro protein domains (see all 6):
     IPR017907 Znf_RING_CS
     IPR001841 Znf_RING
     IPR004170 WWE-dom
     IPR018123 WWE-dom_subgr
     IPR018957 Znf_C3HC4_RING-type

    Graphical View of Domain Structure for InterPro Entry Q9NTX7

    ProtoNet protein and cluster: Q9NTX7

    1 Blocks protein domain: IPB001841 Zn-finger

    UniProtKB/Swiss-Prot: RN146_HUMAN, Q9NTX7
    Domain: The WWE domain mediates non-covalent PAR-binding
    Similarity: Contains 1 RING-type zinc finger
    Similarity: Contains 1 WWE domain


    RNF146 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RN146_HUMAN, Q9NTX7
    Function: E3 ubiquitin-protein ligase that specifically binds poly-ADP-ribosylated (PARsylated) proteins and
    mediates their ubiquitination and subsequent degradation. May regulate many important biological processes, such
    as cell survival and DNA damage response. Acts as an activator of the Wnt signaling pathway by mediating the
    ubiquitination of PARsylated AXIN1 and AXIN2, 2 key components of the beta-catenin destruction complex. Acts in
    cooperation with tankyrase proteins (TNKS and TNKS2), which mediate PARsylation of target proteins AXIN1, AXIN2,
    BLZF1, CASC3, TNKS and TNKS2. Recognizes and binds tankyrase-dependent PARsylated proteins via its WWE domain and
    mediates their ubiquitination, leading to their degradation. Different ubiquitin linkage types have been
    observed: TNKS2 undergoes ubiquination at 'Lys-48' and 'Lys-63', while AXIN1 is only ubiquitinated at 'Lys-48'.
    May regulate TNKS and TNKS2 subcellular location, preventing aggregation at a centrosomal location.
    Neuroprotective protein. Protects the brain against N-methyl-D-aspartate (NMDA) receptor-mediated glutamate
    excitotoxicity and ischemia, by interfering with PAR-induced cell death, called parthanatos. Prevents nuclear
    translocation of AIFM1 in a PAR-binding dependent manner. Does not affect PARP1 activation (By similarity).
    Protects against cell death induced by DNA damaging agents, such as N-methyl-N-nitro-N-nitrosoguanidine (MNNG)
    and rescues cells from G1 arrest. Promotes cell survival after gamma-irradiation. Facilitates DNA repair

         Enzyme Number (IUBMB): EC 6.3.2.-1

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity IDA--
    GO:0005515protein binding IPI--
    GO:0008270zinc ion binding IEA--
    GO:0072572poly-ADP-D-ribose binding IDA--
         
    RNF146 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for RNF146:
     Increased cell death HMECs cel 

    Animal Models:
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    miRNA
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    miRTarBase miRNAs that target RNF146:
    hsa-mir-17-5p (MIRT051033)

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    7 qRT-PCR Assays for microRNAs that regulate RNF146:
    hsa-miR-3926 hsa-miR-548a-3p hsa-miR-513a-3p hsa-miR-548e hsa-miR-1260b hsa-miR-340 hsa-miR-1260
    SwitchGear 3'UTR luciferase reporter plasmidRNF146 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RN146_HUMAN, Q9NTX7: Cytoplasm, cytosol. Nucleus. Note=Translocates to the nucleus after DNA damage, such as
    laser-induced DNA breaks, and concentrates at DNA breaks. This translocation requires PARP1 activation and
    PAR-binding
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    nucleus5
    plasma membrane2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005829cytosol IDA15813938

    RNF146 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Pathways by sourceSee SuperPaths
    Show all pathways


    2 Reactome Pathways for RNF146
        degradation of AXIN
    TCF dependent signaling in response to WNT


    UniProtKB/Swiss-Prot: RN146_HUMAN, Q9NTX7
    Pathway: Protein modification; protein ubiquitination


    RNF146 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including RNF146: 

              Ubiquitin Ligases in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for RNF146

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    Selected Interacting proteins for RNF146 (Q9NTX72, 3 ENSP000003093654) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PFN2P350802, 3, ENSP000002399404MINT-65636 I2D: score=5 STRING: ENSP00000239940
    UBE2G2P606043, ENSP000003383484I2D: score=2 STRING: ENSP00000338348
    TGFBR1P368973, ENSP000003641334I2D: score=3 STRING: ENSP00000364133
    UBE2HP622563, ENSP000003478364I2D: score=2 STRING: ENSP00000347836
    WDR6Q9NNW53I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016055Wnt signaling pathway IEA--
    GO:0042787protein ubiquitination involved in ubiquitin-dependent protein catabolic process IMP--
    GO:0051865protein autoubiquitination IDA--
    GO:0070936protein K48-linked ubiquitination IMP--
    GO:0090263positive regulation of canonical Wnt signaling pathway IMP--

    RNF146 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RNF146 (RN146)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for RNF146 gene (10 alternative transcripts): 
    NM_001242847.1  NM_001242848.1  NM_001242844.1  NM_001242845.1  NM_001242846.1  NM_001242849.1  NM_001242850.1  NM_001242851.1  
    NM_001242852.1  NM_030963.3  

    Unigene Cluster for RNF146:

    Ring finger protein 146
    Hs.267120  [show with all ESTs]
    Unigene Representative Sequence: NM_001242844
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368314(uc021zes.1 uc021zew.1 uc003qav.3) ENST00000476956
    ENST00000609447 ENST00000356799(uc021zet.1 uc021zeu.1 uc021zev.1 uc003qat.3 uc021zex.1 uc003qaw.3 uc003qau.3)
    ENST00000495188 ENST00000477776 ENST00000609944 ENST00000608340 ENST00000610162
    ENST00000489534 ENST00000610153 ENST00000608991 ENST00000480444 ENST00000309649


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    Additional mRNA sequence: 

    AJ315122.1 AJ420549.1 AK027436.1 AK027558.1 AK027776.1 AL136829.1 BC008235.1 CR533514.1 
    NR_045102.1 NR_045103.1 

    20 DOTS entries:

    DT.100821962  DT.86842187  DT.446605  DT.121323263  DT.92427562  DT.121323275  DT.100821966  DT.86842184 
    DT.100036018  DT.98131864  DT.121323249  DT.100036016  DT.100713547  DT.121323283  DT.121323309  DT.121323214 
    DT.121323306  DT.91719703  DT.121323267  DT.92326298 

    Selected AceView cDNA sequences (see all 185):

    AJ315122 AI928863 BI752185 AI913115 CB178007 AA908408 CA447266 CA446327 
    AW157461 CB177936 AI127638 CA446501 BM976168 NM_030963 BM795405 CB178344 
    W39311 CB851669 BQ775411 AI521977 AI061090 AI200473 BM791735 AW300739 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RNF146 (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c
    SP1:                                -     -           -     -           -                                 
    SP2:                                                  -     -           -                                 
    SP3:                                      -           -     -           -                                 
    SP4:                                                        -     -     -                                 
    SP5:                                -     -           -     -     -     -     -     -                     


    ECgene alternative splicing isoforms for RNF146

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RNF146 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGTTCCCAT
    RNF146 Expression
    About this image


    RNF146 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    RNF146 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RNF146 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.267120

    UniProtKB/Swiss-Prot: RN146_HUMAN, Q9NTX7
    Tissue specificity: Ubiquitously expressed. Up-regulated in brains from patients with Alzheimer disease

        Pathway & Disease-focused RT2 Profiler PCR Array including RNF146: 
              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)
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    This gene was present in the common ancestor of animals.

    Orthologs for RNF146 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rnf1461 , 5 ring finger protein 1461, 5 90.45(n)1
    93.54(a)1
      10 (16.60 cM)5
    680311  NM_001110196.11  NP_001103666.11 
     293461715 
    chicken
    (Gallus gallus)
    Aves RNF1461 ring finger protein 146 80.48(n)
    88.29(a)
      425313  XM_423089.4  XP_423089.3 
    lizard
    (Anolis carolinensis)
    Reptilia RNF1466
    ring finger protein 146
    82(a)
    1 ↔ 1
    GL343681.1(198715-199770)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.146262 Xenopus laevis transcribed sequence with weak similarity more 78.99(n)    CF290372.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi29e082 wufi29e08 71.5(n)   334065  BC048897.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG87866
    --
    26(a)
    1 ↔ 1
    3L(19630868-19635916)
    worm
    (Caenorhabditis elegans)
    Secernentea C55A6.16
    Y105E8A.146
    (see all 4)
    Protein C55A6.1 (C55A6.1) mRNA, complete cds
    Protein Y105E8A.14 (Y105E8A.14) mRNA, complete cds...
    (see all 4)
    28(a)
    25(a)
    (see all 4)
    many → 1
    many → 1
    (see all 4)
    V(11503825-11504873) WBGene00008330
    I(14466242-14468211) WBGene00013674


    ENSEMBL Gene Tree for RNF146 (if available)
    TreeFam Gene Tree for RNF146 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RNF146 (see all 384)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1842106141,2
    --127585947(+) TCCTGA/TGTCTT 5 -- us2k10--------
    rs1873064721,2
    --127586192(+) AAGACG/TATGAG 10 -- us2k10--------
    rs779743901,2
    C,F--127586374(+) TTTAAG/ATAGAT 10 -- us2k12Minor allele frequency- A:0.07NA EA 240
    rs1929576401,2
    --127586375(+) TTAAGA/TAGATT 10 -- us2k10--------
    rs1856742841,2
    --127586433(+) TCTACC/GGTAAC 10 -- us2k10--------
    rs1905442161,2
    --127586454(+) AAACAA/GGAGAT 10 -- us2k10--------
    rs1396544001,2
    --127586482(+) AGGTGA/GTAAGT 10 -- us2k10--------
    rs1176236221,2
    F--127586548(+) ACATAA/GAAGAG 10 -- us2k11Minor allele frequency- G:0.01EA 120
    rs97848401,2
    C,F--127586742(+) tttatT/Catgag 10 -- us2k16Minor allele frequency- C:0.15WA NA EA 364
    rs94917211,2
    C--127586820(+) ATTACA/CTCTTC 10 -- us2k10--------

    HapMap Linkage Disequilibrium report for RNF146 (127587755 - 127609712 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for RNF146:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv7385OTHER Inversion18451855

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RNF146
    DNA2.0 Custom Variant and Variant Library Synthesis for RNF146

    (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.)
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    OMIM gene information: 612137    OMIM disorders: --

    UniProtKB/Swiss-Prot: RN146_HUMAN, Q9NTX7
  • Note=Defects in RNF146 are a cause of susceptibility to breast cancer

  • 8 diseases for RNF146:    
    About MalaCards
    cherubism    ischemia    alzheimer's disease    breast cancer
    ovarian cancer    malaria    multiple myeloma    myeloma


    RNF146 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): RNF146
    Human Genome Epidemiology (HuGE) Navigator: RNF146 (3 documents)

    Export disorders for RNF146 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)
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    PubMed articles for RNF146 gene, integrated from 10 sources (see all 28):
    (articles sorted by number of sources associating them with RNF146)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The RNF146 and ECHDC1 genes as candidates for inherited breast and ovarian cancer in Jewish Ashkenazi women. (PubMed id 19517271)1, 2, 4 Menachem T.D.... Friedman E. (Fam. Cancer 2009)
    2. Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33. (PubMed id 18326623)1, 2, 4 Gold B.... Offit K. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    3. The novel cytosolic RING finger protein dactylidin is up-regulated in brains of patients with Alzheimer's disease. (PubMed id 15813938)1, 2, 9 von Rotz R.C.... Nitsch R.M. (Eur. J. Neurosci. 2005)
    4. Recognition of the iso-ADP-ribose moiety in poly(ADP-ribose) by WWE domains suggests a general mechanism for poly(ADP-ribosyl)ation- dependent ubiquitination. (PubMed id 22267412)1, 2 Wang Z.... Xu W. (Genes Dev. 2012)
    5. Iduna is a poly(ADP-ribose) (PAR)-dependent E3 ubiquitin ligase that regulates DNA damage. (PubMed id 21825151)1, 2 Kang H.C.... Dawson T.M. (Proc. Natl. Acad. Sci. U.S.A. 2011)
    6. Ubiquitin ligase RNF146 regulates tankyrase and Axin to promote Wnt signaling. (PubMed id 21799911)1, 2 Callow M.G.... Costa M. (PLoS ONE 2011)
    7. RNF146 is a poly(ADP-ribose)-directed E3 ligase that regulates axin degradation and Wnt signalling. (PubMed id 21478859)1, 2 Zhang Y.... Cong F. (Nat. Cell Biol. 2011)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 81847 HGNC: 21336 AceView: RNF146 Ensembl:ENSG00000118518 euGenes: HUgn81847
    ECgene: RNF146 H-InvDB: RNF146

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RNF146 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RNF146 gene:
    Search GeneIP for patents involving RNF146

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



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