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

C8orf74 Gene

protein-coding   GIFtS: 38
GCID: GC08P010530

Chromosome 8 Open Reading Frame 74

  Search for C8orf74
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 8 Open Reading Frame 741 2
Uncharacterized Protein C8orf742

External Ids:    HGNC: 322961   Entrez Gene: 2030762   Ensembl: ENSG000001710607   UniProtKB: Q6P0473   

Export aliases for C8orf74 gene to outside databases

Previous GC identifers: GC08P010568 GC08P010569 GC08P009460


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

GeneCards Summary for C8orf74 Gene: 
C8orf74 (chromosome 8 open reading frame 74) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.2  NT_077531.4  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C8orf74 gene promoter:
         Tal-1   POU6F1 (c2)   NF-kappaB   Tal-1beta   Cdc5   E47   Ik-2   NF-kappaB2   NF-kappaB1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C8orf74

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C8orf74


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

Entrez Gene cytogenetic band: 8p23.1   Ensembl cytogenetic band:  8p23.1   HGNC cytogenetic band: 8p23.1

C8orf74 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C8orf74 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P010530:  view genomic region     (about GC identifiers)

Start:
10,530,147 bp from pter      End:
10,558,103 bp from pter
Size:
27,957 bases      Orientation:
plus 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: CH074_HUMAN, Q6P047 (See protein sequence)
Recommended Name: Uncharacterized protein C8orf74  
Size: 294 amino acids; 33735 Da
Sequence caution: Sequence=AAH65837.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A2RUD6

Explore the universe of human proteins at neXtProt for C8orf74: NX_Q6P047

Explore proteomics data for C8orf74 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6P047

  • C8orf74 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C8orf74 Protein Expression
    REFSEQ proteins: NP_001035121.1  
    ENSEMBL proteins: 
     ENSP00000307129   ENSP00000432993   ENSP00000430613   ENSP00000429505  

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

    ProtoNet protein and cluster: Q6P047


    (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

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    C8orf74 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for C8orf74:
     Decreased Wnt reporter activit 

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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 C8orf74

    (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 C8orf74 (CH074)

    Search CenterWatch for drugs/clinical trials and news about C8orf74 / CH074

    (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,
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    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 C8orf74 gene: 
    NM_001040032.1  

    Unigene Cluster for C8orf74:

    Chromosome 8 open reading frame 74
    Hs.371776  [show with all ESTs]
    Unigene Representative Sequence: AK131443
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000304519(uc003wtd.1) ENST00000524025 ENST00000517414 ENST00000523723
    ENST00000523289(uc003wte.1) ENST00000521818 ENST00000519925
    miRNA
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    Additional mRNA sequence: 

    AK131443.1 BC038534.1 BC065837.1 BC132852.1 BC132854.1 

    3 DOTS entries:

    DT.100673544  DT.454169  DT.102820641 

    12 AceView cDNA sequences:

    BC065837 BC038534 AK131443 AI201239 CD251983 AI279969 AA781848 AW593209 
    AA609312 BI832125 AA644405 AA609189 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for C8orf74    About this scheme

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


    ECgene alternative splicing isoforms for C8orf74

    (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

    C8orf74 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTTTTGGTG
    C8orf74 Expression
    About this image


    See C8orf74 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C8orf74

    SOURCE GeneReport for Unigene cluster: Hs.371776
        SABiosciences Custom PCR Arrays for C8orf74
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C8orf74

    (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 C8orf74 gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 4930578I06Rik1 , 5 RIKEN cDNA 4930578I06 gene1, 5 75.17(n)1
    69.73(a)1
      14 (33.34 cM)5
    677501  NM_026359.31  NP_080635.21 
     639711225 
    lizard
    (Anolis carolinensis)
    Reptilia C8orf746
    chromosome 8 open reading frame 74
    38(a)
    1 ↔ 1
    4(41114829-41165676)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003303351 uncharacterized protein C8orf74 homolog 44.53(n)
    28.73(a)
      100330335  XM_002665126.1  XP_002665172.1 


    ENSEMBL Gene Tree for C8orf74 (if available)
    TreeFam Gene Tree for C8orf74 (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, 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

    10/934 SNPs in C8orf74 are shown (see all 934)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0336844
    ----see VAR_0336842 L F mis40--------
    rs1490714241,2
    --10532003(+) ACACCA/CTGCAG 1 -- int10--------
    rs1431262071,2
    --10532006(+) CCATGC/TAGCCC 1 -- int10--------
    rs1835385231,2
    --10532021(+) ATCATA/GCCCTG 1 -- int10--------
    rs1864648461,2
    --10532045(+) ACACCC/TCACAG 1 -- int10--------
    rs1128972461,2
    C--10532050(+) CCACAG/ACCCCC 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs284273201,2
    F--10754366(+) GCTAGG/CAGTTT 1 -- us2k11Minor allele frequency- C:0.09WA 118
    rs1814385041,2
    --10754405(+) CCCATC/TTCTAC 1 -- us2k10--------
    rs1119007211,2
    C,F--10754440(+) CCAGGC/TGTGGT 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs100946341,2
    C,F--10754441(+) caggcG/Ttggtg 1 -- us2k13Minor allele frequency- T:0.10NA WA 240

    HapMap Linkage Disequilibrium report for C8orf74 (10530147 - 10558103 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for C8orf74:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2736591CNV Deletion23290073
    esv2736592CNV Deletion23290073
    esv990685CNV Deletion20482838
    nsv519236CNV Loss19592680
    nsv515898CNV Loss19592680
    nsv527184CNV Loss19592680
    nsv398183CNV Loss16902084
    dgv865n27CNV Loss19166990

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    (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
      --

    (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 C8orf74 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C8orf74)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. A Y2H-seq approach defines the human protein methyltransferase interactome. (PubMed id 23455924)1 Weimann M.... Stelzl U. (2013)
    3. DNA sequence and analysis of human chromosome 8. (PubMed id 16421571)2 Nusbaum C....Lander E.S. (2006)
    4. 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: 203076 HGNC: 32296 AceView: LOC203076 Ensembl:ENSG00000171060 euGenes: HUgn203076
    ECgene: C8orf74 H-InvDB: C8orf74

    (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 C8orf74 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 C8orf74 gene:
    Search GeneIP for patents involving C8orf74

    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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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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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