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

C2orf54 Gene

protein-coding   GIFtS: 40
GCID: GC02M241825

Chromosome 2 Open Reading Frame 54

  Search for C2orf54
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 2 Open Reading Frame 541 2
Uncharacterized Protein C2orf542

External Ids:    HGNC: 262161   Entrez Gene: 799192   Ensembl: ENSG000001724787   UniProtKB: Q08AI83   

Export aliases for C2orf54 gene to outside databases

Previous GC identifers: GC02M241474 GC02M233586


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

GeneCards Summary for C2orf54 Gene: 
C2orf54 (chromosome 2 open reading frame 54) 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_000002.11  NT_005416.13  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C2orf54 gene promoter:
         NF-1   AML1a   HNF-1   p300   CUTL1   YY1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C2orf54

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C2orf54


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

Entrez Gene cytogenetic band: 2q37.3   Ensembl cytogenetic band:  2q37.3   HGNC cytogenetic band: 2q37.3

C2orf54 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C2orf54 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M241825:  view genomic region     (about GC identifiers)

Start:
241,825,465 bp from pter      End:
241,836,306 bp from pter
Size:
10,842 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: CB054_HUMAN, Q08AI8 (See protein sequence)
Recommended Name: Uncharacterized protein C2orf54  
Size: 447 amino acids; 49565 Da
Secondary accessions: B3KPP9 Q08AI9 Q53QU5 Q9H622
Alternative splicing: 3 isoforms:  Q08AI8-1   Q08AI8-2   Q08AI8-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C2orf54: NX_Q08AI8

Explore proteomics data for C2orf54 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q08AI8

  • C2orf54 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C2orf54 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001078906.2  NP_001269850.1  NP_079137.3  

    ENSEMBL proteins: 
     ENSP00000385338   ENSP00000302779   ENSP00000373586   ENSP00000390935   ENSP00000394874  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR024809 C2orf54
     IPR024810 Mab-21_dom
     IPR020950 Mab-21-rel

    Graphical View of Domain Structure for InterPro Entry Q08AI8

    ProtoNet protein and cluster: Q08AI8


    C2orf54 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:
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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 C2orf54

    1 Interacting protein for C2orf54 (Q08AI83) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RAD23BP547273I2D: score=1 
    About this table

    (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 C2orf54 (CB054)

    Search CenterWatch for drugs/clinical trials and news about C2orf54 / CB054

    (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 C2orf54 gene (3 alternative transcripts): 
    NM_001085437.2  NM_001282921.1  NM_024861.3  

    Unigene Cluster for C2orf54:

    Chromosome 2 open reading frame 54
    Hs.193745  [show with all ESTs]
    Unigene Representative Sequence: NM_001085437
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000402775(uc002wac.3) ENST00000307486(uc002wad.3) ENST00000388934(uc002wae.4)
    ENST00000414499 ENST00000454476
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    Inhib. RNA
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    Additional mRNA sequence: 

    AK026324.1 AK055735.1 AK056601.1 AK096434.1 BC125154.1 BC125155.1 

    4 DOTS entries:

    DT.95362173  DT.100744065  DT.434561  DT.95362172 

    1 AceView cDNA sequence:

    NM_024861 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for C2orf54 (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b
    SP1:                                                        -     -                                       
    SP2:                                                                                                      
    SP3:                                                              -                                       
    SP4:              -     -     -           -                 -     -                                       
    SP5:              -     -                                                                                 


    ECgene alternative splicing isoforms for C2orf54

    (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

    C2orf54 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTCCTGTAT
    C2orf54 Expression
    About this image


    See C2orf54 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C2orf54

    SOURCE GeneReport for Unigene cluster: Hs.193745
        SABiosciences Custom PCR Arrays for C2orf54
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C2orf54

    (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 C2orf54 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 2310007B03Rik1 , 5 RIKEN cDNA 2310007B03 gene1, 5 79.72(n)1
    76.51(a)1
      1 (47.03 cM)5
    718741  NM_001159940.11  NP_001153412.11 
     931513495 
    chicken
    (Gallus gallus)
    Aves C9H2orf541 chromosome 9 open reading frame, human C2orf54 62.54(n)
    51.21(a)
      770366  XM_001233702.2  XP_001233703.2 
    lizard
    (Anolis carolinensis)
    Reptilia C2ORF546
    Uncharacterized protein
    48(a)
    1 ↔ 1
    3(29870866-29888911)


    ENSEMBL Gene Tree for C2orf54 (if available)
    TreeFam Gene Tree for C2orf54 (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

    10/394 SNPs in C2orf54 are shown (see all 394)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs76016701,2
    C,F,A--241824983(+) GCTTCC/TACCAG 2 -- ds50019Minor allele frequency- T:0.46NA WA CSA EA 368
    rs1444110811,2
    --241824989(+) ACCAGC/TCCCCA 2 -- ds50010--------
    rs76043931,2
    C,F,H--241825034(+) CCCTTG/TTGTGT 2 -- ds500113Minor allele frequency- T:0.19NS NA WA CSA EA 581
    rs133870291,2
    C,F,A,H--241825096(+) CTGTCG/ATGAGT 2 -- ds50015Minor allele frequency- A:0.00NS EA WA 538
    rs130254951,2
    C,F,H--241825253(+) GATGGA/GGAATA 2 -- ds500115Minor allele frequency- G:0.10NS EA NA WA CSA 1884
    rs665704551,2
    C--241825410(+) CAGAG-/AGGGGG 2 -- ds50010--------
    rs731085251,2
    C,F--241825451(+) ACAACT/AACCTG 2 -- ds50012Minor allele frequency- A:0.04WA 120
    rs1842409361,2
    --241825453(+) AACTAC/TCTGAG 2 -- ds50010--------
    rs730041241,2
    --241825867(+) GCAGAA/TGGGAG 2 -- ut310--------
    rs339983151,2
    C,F--241825926(+) TTTAGT/CTTGCT 2 -- ut316Minor allele frequency- C:0.16NA WA CSA 246

    HapMap Linkage Disequilibrium report for C2orf54 (241825465 - 241836306 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/16 variations for C2orf54 (see all 16):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2721955CNV Deletion23290073
    nsv460168CNV Loss19166990
    nsv876210CNV Loss21882294
    dgv4485n71CNV Loss21882294
    nsv876208CNV Loss21882294
    nsv470531CNV Loss18288195
    nsv876116CNV Loss21882294
    nsv876211CNV Loss21882294
    dgv4488n71CNV Loss21882294
    dgv4487n71CNV Loss21882294

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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 C2orf54 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C2orf54)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
    3. 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)
    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: 79919 HGNC: 26216 AceView: FLJ22671 Ensembl:ENSG00000172478 euGenes: HUgn79919
    ECgene: C2orf54 H-InvDB: C2orf54

    (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 C2orf54 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 C2orf54 gene:
    Search GeneIP for patents involving C2orf54

    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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    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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