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

C2orf76 Gene

protein-coding   GIFtS: 38
GCID: GC02M120059          (predicted)

chromosome 2 open reading frame 76

  Search for C2orf76
in our new
 Human Malady Compendium 
Biological research products
for C2orf76
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Chromosome 2 Open Reading Frame 761 2
AIM291 2
LOC1303551
MGC1044371
UPF0538 Protein C2orf762

External Ids:    HGNC: 270171   Entrez Gene: 1303552   Ensembl: ENSG000001861327   UniProtKB: Q3KRA63   

Export aliases for C2orf76 gene to outside databases

Previous GC identifers: GC02M119776 GC02M112386


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

  --

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_022135.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C2orf76 gene promoter:
         Nkx3-1   Nkx3-1 v4   Nkx3-1 v1   Nkx3-1 v2   PPAR-gamma1   Nkx3-1 v3   PPAR-gamma2   Pax-4a   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C2orf76

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C2orf76


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

Entrez Gene cytogenetic band: 2q14.2   Ensembl cytogenetic band:  2q14.2   HGNC cytogenetic band: 2q14.2

C2orf76 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C2orf76 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M120059:  view genomic region     (about GC identifiers)

Start:
120,059,801 bp from pter      End:
120,124,404 bp from pter
Size:
64,604 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CB076_HUMAN, Q3KRA6 (See protein sequence)
Recommended Name: UPF0538 protein C2orf76  
Size: 126 amino acids; 14609 Da
Secondary accessions: B7ZLS8 Q4VC35

Explore the universe of human proteins at neXtProt for C2orf76: NX_Q3KRA6

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q3KRA6

  • C2orf76 Protein expression data from MOPED and PaxDb:    About this image 
    C2orf76 Protein Expression
    REFSEQ proteins: NP_001017927.2  
    ENSEMBL proteins: 
     ENSP00000386302   ENSP00000335041   ENSP00000387234   ENSP00000386714   ENSP00000388482  

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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    C2orf76 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR018794 UPF0538

    Graphical View of Domain Structure for InterPro Entry Q3KRA6

    ProtoNet protein and cluster: Q3KRA6

    UniProtKB/Swiss-Prot: CB076_HUMAN, Q3KRA6
    Similarity: Belongs to the UPF0538 family


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

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for C2orf76 

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C2orf76

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 C2orf76
    Search CenterWatch for drugs/clinical trials and news about C2orf76 / CB076 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for C2orf76 gene: 
    NM_001017927.2  

    Unigene Cluster for C2orf76:

    Chromosome 2 open reading frame 76
    Hs.99488  [show with all ESTs]
    Unigene Representative Sequence: BC047365
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000409466(uc010yyg.1 uc002tlt.2) ENST00000334816(uc002tlu.2)
    ENST00000409877(uc002tls.2) ENST00000409523(uc010flf.1) ENST00000414534
    ENST00000498049

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    Additional cDNA sequence: 

    BC047365.1 BC062434.1 BC105805.1 BC126395.1 BC126397.1 BC144012.1 BC144014.1 BC171737.1 

    5 DOTS entries:

    DT.100777052  DT.211804  DT.100659229  DT.97834817  DT.101973022 

    24/68 AceView cDNA sequences (see all 68):

    AA738440 AI091896 CR624749 AI383295 BC047365 BI763973 AW051480 BU599759 
    AI246250 AI191561 BX103499 AA243441 BC062434 AI817119 BU853537 BX444653 
    CD653775 BU729633 CK819433 BX506482 BU602593 BM701966 AI306531 AA252613 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for C2orf76    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9
    SP1:                                -                                 
    SP2:        -     -     -           -                                 
    SP3:        -     -     -                                             
    SP4:                    -           -                                 


    ECgene alternative splicing isoforms for C2orf76

    (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

    C2orf76 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCTCCTGGAG
    C2orf76 Expression
    About this image
    See C2orf76 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C2orf76

    SOURCE GeneReport for Unigene cluster: Hs.99488
        SABiosciences Custom PCR Arrays for C2orf76

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C2orf76

    (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 C2orf76 gene from 4/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 3110009E18Rik1 , 5 RIKEN cDNA 3110009E18 gene1, 5 85.98(n)1
    83.33(a)1
      1 (52.66 cM)5
    731031  NM_028439.21  NP_082715.11 
     1201211875 
    chicken
    (Gallus gallus)
    Aves C7H2orf761 chromosome 7 open reading frame, human C2orf76 74.34(n)
    73.81(a)
      424274  XM_422121.1  XP_422121.1 
    lizard
    (Anolis carolinensis)
    Reptilia C2orf766
    --
    73(a)
    1 ↔ 1
    GL343497.1(182049-189062)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1018511 zgc:101851 65.27(n)
    66.39(a)
      447937  NM_001004675.1  NP_001004675.1 


    ENSEMBL Gene Tree for C2orf76 (if available)
    TreeFam Gene Tree for C2orf76 (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, UniProtKB, 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

    10/1065 NCBI SNPs in C2orf76 are shown (see all 1065    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs664922931,2
    C--112386574(+) AAACTGGAGATC 
     AATAA
    /-
    GGAGG
    1 -- int11Minor allele frequency- -:0.50CSA 2
    rs1922573001,2
    --120059554(+) CAATTC/TAATTG 1 -- ds50010--------
    rs67389691,2
    C,F,A,H--120059591(+) CCTGAG/ACTAAA 1 -- ds500117Minor allele frequency- A:0.34NS EA NA WA CSA 788
    rs1843171561,2
    --120059724(+) TTAAGC/GAGCTC 1 -- ds50010--------
    rs76004231,2
    C,F,A,H--120059726(+) AAGGAA/GCTCTA 1 -- ds500122Minor allele frequency- G:0.24NS EA NA WA CSA 1872
    rs1426676471,2
    C--120059843(+) CAAAT-/GTTTTT 1 -- ds50010--------
    rs167441,2
    C--120059895(+) AGAAGGAAA/-  
            
    GAAAG
    1 -- ds5001 trp35Minor allele frequency- -:0.28EU NA EA CSA 344
    rs106662921,2
    C--120059901(+) AAAGAAAGA/-  
            
    CCTGA
    1 -- ds50011Minor allele frequency- -:0.00NA 2
    rs86001,2
    C,F,O,A,H--120059921(-) ATCTGG/TTTATT 1 -- ds500124Minor allele frequency- T:0.15MN NA NS EA WA 2620
    rs18901,2
    C,F,A,H--120059988(+) AAAAAC/TTCAGC 1 -- ds500122Minor allele frequency- T:0.34MN NA NS EA WA CSA 2016

    HapMap Linkage Disequilibrium report for C2orf76 (120059801 - 120124404 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for C2orf76: --

    SABiosciences Cancer Mutation PCR Assays
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    (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.)
    About This Section

    C2orf76 for disorders           About MalaCards

    C2orf76 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: C2orf76 (2 documents)

    Export disorders for C2orf76 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 C2orf76 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C2orf76)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    2. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    3. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    4. Host determinants of HIV-1 control in African America ns. (PubMed id 20205591)1 Pelak K....Weintrob A.C. (2010)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    6. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
    7. 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. (2004)

    (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: 130355 HGNC: 27017 AceView: LOC130355 Ensembl:ENSG00000186132 euGenes: HUgn130355
    ECgene: C2orf76 H-InvDB: C2orf76

    (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 C2orf76 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 C2orf76 gene:
    Search GeneIP for patents involving C2orf76

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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