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C2orf76 Gene

protein-coding   GIFtS: 44
GCID: GC02M120059          (predicted)

Chromosome 2 Open Reading Frame 76

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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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Aliases
Chromosome 2 Open Reading Frame 761 2
AIM292
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for C2orf76 Gene:
C2orf76 (chromosome 2 open reading frame 76) is a protein-coding 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 at NCBI GenBank:
NC_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   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 Chromatin IP Primers for C2orf76

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: 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

Explore proteomics data for C2orf76 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys65
  • Modification sites at PhosphoSitePlus

  • See C2orf76 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001017927.2  
    ENSEMBL proteins: 
     ENSP00000386302   ENSP00000335041   ENSP00000387234   ENSP00000386714   ENSP00000388482  

    C2orf76 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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    1 InterPro protein domain:
     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


    Find genes that share domains with C2orf76           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C2orf76
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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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    plasma membrane2
    extracellular1
    mitochondrion1

    (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 C2orf76
    Interactions:

        Search GeneGlobe Interaction Network for C2orf76

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for C2orf76 (ENSP000003350414) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ZC3H14ENSP000002510384STRING: ENSP00000251038
    About this table

    (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 C2orf76 (CB076)



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat C2orf76
      QuantiFast Probe-based Assays in human, mouse, rat C2orf76

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 68):

    AA738440 AI383295 AI091896 CR624749 BM701966 CD653775 CK819433 BU853537 
    BI763973 BU729633 BX103499 BX506482 AA243441 AI306531 BC047365 BU599759 
    AW051480 BU602593 AI246250 AI191561 BC062434 AI817119 BX444653 AI348605 

    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™, 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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    C2orf76 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTCCTGGAG
    C2orf76 Expression
    About this image

    C2orf76 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C2orf76 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.99488
        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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for C2orf76 gene from Selected species (see all 10)    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)
    74.6(a)
      424274  NM_001277872.1  NP_001264801.1 
    lizard
    (Anolis carolinensis)
    Reptilia C2orf766
    chromosome 2 open reading frame 76
    64(a)
    1 ↔ 1
    GL343497.1(179323-188458)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1018511 zgc:101851 63.23(n)
    63.49(a)
      447937  NM_001004675.1  NP_001004675.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes AIM29(YKR074W)4 Putative protein of unknown function; epitope-tagged more   --   11(579209-579676) 853949  NP_013000.1 


    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)
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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 C2orf76 (see all 1257)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    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--------
    rs670603441,2
    C--120059896(+) GAAGG-/GAAA  
            
    AAAGA
    1 -- ds50010--------
    rs106662921,2
    C--120059897(+) 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
    rs10525001,2,,4
    C,F,A,H--120060082(-) TTATAG/AGAACT 2 /K /R mis1 ese331Minor allele frequency- A:0.33NA NS EA WA CSA EU 4077

    HapMap Linkage Disequilibrium report for C2orf76 (120059801 - 120124404 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for C2orf76:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv508862CNV Insertion20534489
    nsv459119CNV Gain19166990
    nsv874960CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C2orf76
    DNA2.0 Custom Variant and Variant Library Synthesis for C2orf76

    (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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    Find genes that share disorders with C2orf76           About GenesLikeMe

    Genetic Association Database (GAD): C2orf76
    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)
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    PubMed articles for C2orf76 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with C2orf76)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    2. Host determinants of HIV-1 control in African Americans. (PubMed id 20205591)1, 4 Pelak K.... . (J. Infect. Dis. 2010)
    3. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    4. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    5. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    7. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    8. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
    9. 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)

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

    (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 C2orf76 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 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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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