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

C20orf112 Gene

protein-coding   GIFtS: 41
GCID: GC20M031030

Chromosome 20 Open Reading Frame 112

(Previous name: chromosome 20 open reading frame 113)
(Previous symbol: C20orf113)
  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)
About This Section

Aliases
Chromosome 20 Open Reading Frame 1121 2     dJ1184F4.22
C20orf1131 2 3     dJ1184F4.42
Chromosome 20 Open Reading Frame 1131     Uncharacterized Protein C20orf1122
Hypothetical Protein LOC1406881     

External Ids:    HGNC: 161061   Entrez Gene: 1406882   Ensembl: ENSG000001971837   UniProtKB: Q96MY13   

Export aliases for C20orf112 gene to outside databases

Previous GC identifers: GC20M030822 GC20M031732 GC20M031779 GC20M030498 GC20M027820


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

GeneCards Summary for C20orf112 Gene: 
C20orf112 (chromosome 20 open reading frame 112) is a protein-coding gene. Diseases associated with C20orf112 include acute myeloid leukemia, and myeloid leukemia. An important paralog of this gene is NOL4.


(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_000020.10  NT_011362.10  NC_018931.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C20orf112 gene promoter:
         COUP-TF1   AP-1   COUP   HNF-4alpha2   XBP-1   E47   HNF-4alpha1   AREB6   COUP-TF   Hand1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C20orf112

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C20orf112


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

Entrez Gene cytogenetic band: 20q11.21   Ensembl cytogenetic band:  20q11.21   HGNC cytogenetic band: 20q11.21

C20orf112 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C20orf112 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M031030:  view genomic region     (about GC identifiers)

Start:
31,030,862 bp from pter      End:
31,172,876 bp from pter
Size:
142,015 bases      Orientation:
minus 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: CT112_HUMAN, Q96MY1 (See protein sequence)
Recommended Name: Uncharacterized protein C20orf112  
Size: 436 amino acids; 47215 Da
Secondary accessions: Q5JYB7 Q6P0Y4 Q9BR34 Q9NQF6
Alternative splicing: 2 isoforms:  Q96MY1-1   Q96MY1-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C20orf112: NX_Q96MY1

Explore proteomics data for C20orf112 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96MY1

  • C20orf112 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C20orf112 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001243727.1  NP_542183.2  

    ENSEMBL proteins: 
     ENSP00000352704   ENSP00000317413   ENSP00000364829   ENSP00000364830   ENSP00000201961  
     ENSP00000410774  

    Human Recombinant Protein Products for C20orf112: 
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    Cloud-Clone Corp. Proteins for C20orf112 


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    Assay Products for C20orf112: 
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    Cloud-Clone Corp. ELISAs for C20orf112 
    Cloud-Clone Corp. CLIAs for C20orf112


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR026746 UPF_C20orf112

    Graphical View of Domain Structure for InterPro Entry Q96MY1

    ProtoNet protein and cluster: Q96MY1


    C20orf112 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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for C20orf112 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for C20orf112 
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    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidC20orf112 3' UTR sequence
    Inhib. RNA
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                         Customized lentivirus expression plasmids for stable overexpression of C20orf112 

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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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C20orf112

    (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 C20orf112 (CT112)

    Search CenterWatch for drugs/clinical trials and news about C20orf112 / CT112

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 C20orf112 gene (2 alternative transcripts): 
    NM_001256798.1  NM_080616.4  

    Unigene Clusters for C20orf112:

    Chromosome 20 open reading frame 112
    Hs.516978  [show with all ESTs], Hs.729596  [show with all ESTs]
    Unigene Representative Sequences: NM_001256798, AK097804
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000359676(uc002wxu.4) ENST00000475781 ENST00000326071(uc002wxv.4)
    ENST00000375677 ENST00000375678(uc002wxw.1) ENST00000201961 ENST00000419612
    ENST00000470428 ENST00000485364(uc002wxx.3)
    miRNA
    Products:
         
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    8/183 QIAGEN miScript miRNA Assays for microRNAs that regulate C20orf112 (see all 183):
    hsa-miR-1321 hsa-miR-1224-3p hsa-miR-519a hsa-miR-3921 hsa-miR-298 hsa-miR-637 hsa-miR-376a* hsa-miR-508-5p
    SwitchGear 3'UTR luciferase reporter plasmidC20orf112 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for C20orf112
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C20orf112
    Clone
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    OriGene clones in human, mouse for C20orf112 (see all 6)
    OriGene ORF clones in mouse, rat for C20orf112
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C20orf112
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C20orf112
    Sirion Biotech Customized lentivirus for stable overexpression of C20orf112 
                         Customized lentivirus expression plasmids for stable overexpression of C20orf112 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for C20orf112
    SABiosciences RT2 qPCR Primer Assay in human, mouse / rat C20orf112
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C20orf112
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C20orf112

    Additional mRNA sequence: 

    AK097804.1 BC023657.2 BC065483.1 

    16 DOTS entries:

    DT.416873  DT.40126477  DT.92418160  DT.92417470  DT.70100026  DT.97815864  DT.120819153  DT.97835999 
    DT.100757456  DT.100831868  DT.95369885  DT.97767532  DT.40218085  DT.95306451  DT.40109178  DT.70102846 

    24/215 AceView cDNA sequences (see all 215):

    CK821631 BP360998 AI859356 AA331452 NM_080616 CK299748 D59835 AI762191 
    AL122043 AA609210 AA563605 CR621375 AL834520 AI360206 BI038219 BM311140 
    R07125 AA952992 N41967 AI610320 M86070 AA346074 BF732473 CK821630 

    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™, 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

    C20orf112 expression in normal human tissues (normalized intensities)      C20orf112 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTATTACTTG
    C20orf112 Expression
    About this image


    C20orf112 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Testis (Reproductive System)
             sperm   
     
     Nose (Sensory Organs)
             sensory organ/nose/nasal cavity   
     
     Ear (Sensory Organs)
             sensory organ/ear   
     
     Spleen (Hematopoietic System)
             Conventional Dendritic Cells I Spleen

    See C20orf112 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C20orf112

    SOURCE GeneReport for Unigene clusters: Hs.516978 Hs.729596
        SABiosciences Custom PCR Arrays for C20orf112
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for C20orf112
    SABiosciences RT2 qPCR Primer Assay in human, mouse / rat C20orf112
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C20orf112
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C20orf112

    (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 animals.

    Orthologs for C20orf112 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 8430427H17Rik1 , 5 RIKEN cDNA 8430427H17 gene1, 5 89.5(n)1
    94.71(a)1
      2 (75.41 cM)5
    3295401  NM_001134300.21  NP_001127772.11 
     1534074625 
    chicken
    (Gallus gallus)
    Aves C20H20orf1121 chromosome 20 open reading frame, human C20orf112 85.01(n)
    89.7(a)
      771902  XM_001235116.2  XP_001235117.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    --


    (see all 3)
    possible ortholog
    possible ortholog
    (see all 3)
    AAWZ02039116(553-907)
    AAWZ02040453(2363-3352)
    zebrafish
    (Danio rerio)
    Actinopterygii wufa08e042 wufa08e04 79.1(n)   334910  AA542641.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta BG:DS01523.13   -- 76(a)   35A1   --


    ENSEMBL Gene Tree for C20orf112 (if available)
    TreeFam Gene Tree for C20orf112 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C20orf112 gene
    NOL42  
    3 SIMAP similar genes for C20orf112 using alignment to 6 protein entries:     CT112_HUMAN (see all proteins):
    RUNX1/C20orf112 fusion    C20orf112/RUNX1 fusion    NOL4

    C20orf112 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) 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

    10/2582 SNPs in C20orf112 are shown (see all 2582)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1397497751,2
    --27860789(+) GGCACA/GGGGGG 1 -- int10--------
    rs748013691,2
    --27860932(+) CCGCCA/GTGCGC 1 -- int10--------
    rs1892308221,2
    --27861044(+) CTCCCC/GGAGGC 1 -- int10--------
    rs1121081131,2
    F--27861190(+) TTCGGG/ACAGCC 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs744014551,2
    C--27861216(+) TCTTTC/TGGGTC 1 -- int10--------
    rs622079761,2
    C--27861283(+) CCGGGG/CGGCCG 1 -- int11Minor allele frequency- C:0.50NA 2
    rs1425677921,2
    --27861399(+) GAGCTC/TCTCGG 1 -- int10--------
    rs1162333131,2
    F--27861685(+) CGCGAG/ACCACA 1 -- int11Minor allele frequency- A:0.03WA 118
    rs1860419931,2
    --27861705(+) TAATAA/GGATAA 1 -- int10--------
    rs802515571,2
    F--27861740(+) GACCCG/AGGCAC 1 -- int11Minor allele frequency- A:0.03WA 118

    HapMap Linkage Disequilibrium report for C20orf112 (31030862 - 31172876 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for C20orf112:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv509765CNV Insertion20534489
    nsv523511CNV Loss19592680
    dgv4562n71CNV Loss21882294
    nsv833955CNV Loss17160897
    nsv521347CNV Gain19592680
    nsv819614CNV Gain19587683

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing C20orf112
    DNA2.0 Custom Variant and Variant Library Synthesis for C20orf112

    (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
    3 diseases for C20orf112:    About MalaCards
    acute myeloid leukemia    myeloid leukemia    leukemia


    C20orf112 for disorders           About GeneDecksing


    Export disorders for C20orf112 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 C20orf112 gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with C20orf112)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2, 3 Deloukas P....Rogers J. (2001)
    2. CBFA2T2 and C20orf112: two novel fusion partners of R UNX1 in acute myeloid leukemia. (PubMed id 20520637)1, 3 Guastadisegni M.C....Storlazzi C.T. (2010)
    3. 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. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Large-scale characterization of HeLa cell nuclear phosphoproteins. (PubMed id 15302935)1, 3 Beausoleil S.A....Gygi S.P. (2004)
    6. Dominant-negative mechanism of leukemogenic PAX5 fusio ns. (PubMed id 21765475)1 Kawamata N....Koeffler H.P. (2012)
    7. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    8. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    9. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (2004)
    10. 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. (2002)

    (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: 140688 HGNC: 16106 AceView: C20orf112 Ensembl:ENSG00000197183 euGenes: HUgn140688
    ECgene: C20orf112 H-InvDB: C20orf112

    (According to HUGE)
    About This Section
      --

    (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 C20orf112 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 C20orf112 gene:
    Search GeneIP for patents involving C20orf112

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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