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RNF112 Gene

protein-coding   GIFtS: 44
GCID: GC17P019314

Ring Finger Protein 112

(Previous name: zinc finger protein 179)
(Previous symbol: ZNF179)
  See related diseases
at  

(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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Aliases
Ring Finger Protein 1121 2
ZNF1791 2 3 5
Zinc Finger Protein 1791 2 3
BFP2 3 5
Brain Finger Protein2 3

External Ids:    HGNC: 129681   Entrez Gene: 77322   Ensembl: ENSG000001284827   OMIM: 6012375   UniProtKB: Q9ULX53   

Export aliases for RNF112 gene to outside databases

Previous GC identifers: GC17P019257 GC17P018694


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RNF112 Gene:
This gene encodes a member of the RING finger protein family of transcription factors. The protein is primarily
expressed in brain. The gene is located within the Smith-Magenis syndrome region on chromosome 17. (provided by
RefSeq, Jul 2008)

GeneCards Summary for RNF112 Gene:
RNF112 (ring finger protein 112) is a protein-coding gene. Diseases associated with RNF112 include accommodative esotropia, and suppression amblyopia. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is ATL3.




(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_000017.11  NT_010718.17  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RNF112 gene promoter:
         AhR   HOXA9B   HOXA9   SRF   Bach2   SRF (504 AA)   Tal-1beta   Meis-1b   ITF-2   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRNF112 promoter sequence
   Search Chromatin IP Primers for RNF112

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RNF112


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

Entrez Gene cytogenetic band: 17p11.2   Ensembl cytogenetic band:  17p11.2   HGNC cytogenetic band: 17p11.2

RNF112 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RNF112 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P019314:  view genomic region     (about GC identifiers)

Start:
19,314,438 bp from pter      End:
19,320,589 bp from pter
Size:
6,152 bases      Orientation:
plus strand

(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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RN112_HUMAN, Q9ULX5 (See protein sequence)
Recommended Name: RING finger protein 112  
Size: 631 amino acids; 68298 Da
Secondary accessions: O60633 Q7Z5V9
Alternative splicing: 2 isoforms:  Q9ULX5-1   Q9ULX5-2   

Explore the universe of human proteins at neXtProt for RNF112: NX_Q9ULX5

Explore proteomics data for RNF112 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RNF112 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_009079.2  
    ENSEMBL proteins: 
     ENSP00000464134   ENSP00000454919  

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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

    5 InterPro protein domains:
     IPR001841 Znf_RING
     IPR027417 P-loop_NTPase
     IPR015894 Guanylate-bd_N
     IPR018957 Znf_C3HC4_RING-type
     IPR013083 Znf_RING/FYVE/PHD

    Graphical View of Domain Structure for InterPro Entry Q9ULX5

    ProtoNet protein and cluster: Q9ULX5

    1 Blocks protein domain: IPB001841 Zn-finger

    UniProtKB/Swiss-Prot: RN112_HUMAN, Q9ULX5
    Similarity: Contains 1 RING-type zinc finger


    RNF112 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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         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity IEA--
    GO:0005515protein binding ----
    GO:0005525GTP binding IEA--
    GO:0008270zinc ion binding NAS8660987
         
    RNF112 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for RNF112:
     Downregulation of NF-kappaB pa  Downregulation of NF-kappaB pa 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RNF112
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    2 qRT-PCR Assays for microRNAs that regulate RNF112:
    hsa-miR-155* hsa-miR-1264
    SwitchGear 3'UTR luciferase reporter plasmidRNF112 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat RNF112

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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
    RN112_HUMAN, Q9ULX5: Membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion2
    nucleus2
    cytosol1
    extracellular1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--
    GO:0016021integral component of membrane IEA--

    RNF112 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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RNF112
    Interactions:

        Search GeneGlobe Interaction Network for RNF112

    (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 RNF112 (RN112)



    (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,
    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 RNF112 gene: 
    NM_007148.4  

    Unigene Cluster for RNF112:

    Ring finger protein 112
    Hs.189482  [show with all ESTs]
    Unigene Representative Sequence: NM_007148
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000575165 ENST00000574149(uc010vyu.2) ENST00000461366(uc010vyw.2 uc021tsa.1)
    ENST00000580109 ENST00000574782
    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate RNF112:
    hsa-miR-155* hsa-miR-1264
    SwitchGear 3'UTR luciferase reporter plasmidRNF112 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat RNF112
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RNF112
    Primer
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    OriGene qPCR primer pairs and template standards for RNF112
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RNF112
      QuantiTect SYBR Green Assays in human, mouse, rat RNF112
      QuantiFast Probe-based Assays in human, mouse, rat RNF112

    Additional mRNA sequence: 

    AB026054.1 AK226052.1 AK293508.1 AK313844.1 BC038896.1 BC053989.1 

    2 DOTS entries:

    DT.40198862  DT.75116798 

    Selected AceView cDNA sequences (see all 53):

    AW005893 BC053989 AL157643 BU631924 AB026054 AI631700 BM930108 BM669827 
    BE466003 BM931830 BC038896 AI589846 NM_007148 AW136856 BF514637 BX116914 
    BM716143 AI810765 AI659353 BG911552 AW298085 BI772359 BI820061 AW007168 

    GeneLoc Exon Structure


    (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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    RNF112 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCTCTGTGA
    RNF112 Expression
    About this image


    RNF112 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             TGFbeta3+BMP7-induced chondrocytes
     
     Neurons
             Type1 Off Cone Bipolar Cells Inner Nuclear Layer
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             TGFbeta3+BMP7-induced chondrocytes
     
     Paraxial Mesoderm (Gastrulation Derivatives)
             PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
     
     Neural Crest (Gastrulation Derivatives)
             PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
    RNF112 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RNF112 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.189482

    UniProtKB/Swiss-Prot: RN112_HUMAN, Q9ULX5
    Tissue specificity: Predominantly expressed in brain

        Custom PCR Arrays for RNF112
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RNF112

    (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 RNF112 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rnf1121 , 5 ring finger protein 1121, 5 84.29(n)1
    88.25(a)1
      11 (37.96 cM)5
    226711  NM_009548.21  NP_033574.21 
     614484425 
    lizard
    (Anolis carolinensis)
    Reptilia RNF1126
    ring finger protein 112
    36(a)
    1 ↔ 1
    GL343287.1(1724210-1737027)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia rnf1121 ring finger protein 112 51.09(n)
    37.12(a)
      548585  NM_001015868.1  NP_001015868.1 
    zebrafish
    (Danio rerio)
    Actinopterygii RNF1126
    ring finger protein 112
    13(a)
    1 ↔ 1
    11(46364393-46374543) ENSDARG00000068484
    fruit fly
    (Drosophila melanogaster)
    Insecta atl6
    atlastin
    19(a)
    1 → many
    3R(20451397-20460436)
    worm
    (Caenorhabditis elegans)
    Secernentea atln-16
    Protein Y54G2A.2, isoform a
    19(a)
    1 → many
    IV(2788692-2796813) WBGene00021868


    ENSEMBL Gene Tree for RNF112 (if available)
    TreeFam Gene Tree for RNF112 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RNF112 gene
    ATL32  ATL22  ATL12  
    5 SIMAP similar genes for RNF112 using alignment to 2 protein entries:     RN112_HUMAN (see all proteins):
    TRIM39    TRIM17    TRIM26    BFAR    TRIM5

    RNF112 for paralogs           About GeneDecksing



    (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 RNF112 (see all 186)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1487453291,2
    --19312621(+) CCTTTG/TTTCCC 1 -- us2k10--------
    rs1895645681,2
    --19312705(+) ACCTCC/TTTGCT 1 -- us2k10--------
    rs1425958861,2
    --19312727(+) CCTGAC/TACCCC 1 -- us2k10--------
    rs1464910241,2
    --19312744(+) CCCTCA/CCCGCA 1 -- us2k10--------
    rs1808038331,2
    --19312789(+) TAATTG/TTCCAG 1 -- us2k10--------
    rs1151576931,2
    C,F--19312950(+) GGAAGC/TTCAGA 1 -- us2k10--------
    rs1864845121,2
    --19313217(+) TTCTCC/TGAATC 1 -- us2k10--------
    rs790475891,2
    C,F--19313266(+) CCAAAA/GTGAAC 1 -- us2k11Minor allele frequency- G:0.16EA 120
    rs1893578211,2
    --19313328(+) GCTGAA/TCTTTT 1 -- us2k10--------
    rs733079161,2
    C,F--19313336(+) TTTCTC/AGGTTC 1 -- us2k11Minor allele frequency- A:0.50WA 2

    HapMap Linkage Disequilibrium report for RNF112 (19314438 - 19320589 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for RNF112: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RNF112
    DNA2.0 Custom Variant and Variant Library Synthesis for RNF112

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601237    OMIM disorders: --

    11 diseases for RNF112:    
    About MalaCards
    accommodative esotropia    suppression amblyopia    sneddon syndrome    amblyopia
    facial paralysis    esotropia    smith magenis syndrome    syphilis
    diarrhea    fanconi's anemia    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for RNF112:
    Syphilis     Diarrhea

    RNF112 for disorders           About GeneDecksing

    Genetic Association Database (GAD): RNF112

    Export disorders for RNF112 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 RNF112 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with RNF112)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Chromosome mapping of human (ZNF179), mouse, and rat genes for brain finger protein (bfp), a member of the RING finger family. (PubMed id 8660987)1, 2, 3, 9 Matsuda Y....Hori T. (Genomics 1996)
    2. Molecular cloning, localization, and developmental expression of mouse brain finger protein (Bfp)/ZNF179: distribution of bfp mRNA partially coincides with the affected areas of Smith-Magenis syndrome. (PubMed id 9806830)1, 3, 9 Orimo A....Muramatsu M. (Genomics 1998)
    3. cDNA cloning of a human brain finger protein, BFP/ZNF179, a member of the RING finger protein family. (PubMed id 10574464)1, 2 Seki N.... Saito T. (DNA Res. 1999)
    4. TLR8-dependent TNF-(alpha) overexpression in Fanconi anemia group C cells. (PubMed id 19850743)1 Vanderwerf S.M....Bagby G.C. (Blood 2009)
    5. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (Nature 2006)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    8. The brain finger protein gene (ZNF179), a member of the RING finger family, maps within the Smith-Magenis syndrome region at 17p11.2. (PubMed id 9096764)1 Kimura T....Inazawa J. (Am. J. Med. Genet. 1997)
    9. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (Genome Res. 1996)

    (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: 7732 HGNC: 12968 AceView: ZNF179 Ensembl:ENSG00000128482 euGenes: HUgn7732
    ECgene: RNF112 H-InvDB: RNF112

    (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 RNF112 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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