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

C12orf54 Gene

protein-coding   GIFtS: 34
GCID: GC12P048877

chromosome 12 open reading frame 54
  Search for C12orf54
in
MalaCards
our new
 Human Malady Compendium 
Biological research products
for C12orf54    

Aliases
for C12orf54 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Chromosome 12 Open Reading Frame 541 2
MGC350331
HSD-292
HSD-302
Uncharacterized Protein C12orf542

External Ids:    HGNC: 285531   Entrez Gene: 1212732   Ensembl: ENSG000001776277   UniProtKB: Q6X4T03   

Export aliases for C12orf54 gene to outside databases

Previous GC identifers: GC12P047164 GC12P045910


Summaries
for C12orf54 gene

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

Genomic Views
for C12orf54 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C12orf54 gene promoter:
         Nkx2-5   CUTL1   HNF-1A   Arnt   GATA-2   FAC1   Pax-3   HNF-1   IRF-7A   ZID   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C12orf54

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C12orf54


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

Entrez Gene cytogenetic band: 12q13.11   Ensembl cytogenetic band:  12q13.11   HGNC cytogenetic band: 12q13.11

C12orf54 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C12orf54 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P048877:  view genomic region     (about GC identifiers)

Start:
 48,876,286 bp from pter      End:
 48,890,297 bp from pter
Size:
 14,012 bases      Orientation:
 plus strand

Proteins
for C12orf54 gene

(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: CL054_HUMAN, Q6X4T0 (See protein sequence)
Recommended Name: Uncharacterized protein C12orf54  
Size: 127 amino acids; 14485 Da
Secondary accessions: Q6X4S9 Q8N5S2
Alternative splicing: 2 isoforms:  Q6X4T0-1   Q6X4T0-2   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for C12orf54: NX_Q6X4T0

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6X4T0

    • C12orf54 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_689532.1  
    ENSEMBL proteins: 
     ENSP00000447109   ENSP00000369859   ENSP00000450103   ENSP00000316898  

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    Protein Domains /
    Families
    for C12orf54 gene

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

    ProtoNet protein and cluster: Q6X4T0


    Function
    for C12orf54 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    miRNA
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    Pathways & Interactions
    for C12orf54 gene

    (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 C12orf54

    Drugs & Compounds
    for C12orf54 gene

    (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
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    Browse Tocris compounds for C12orf54
    Search CenterWatch for drugs/clinical trials and news about C12orf54 / CL054 

    Transcripts
    for C12orf54 gene

    (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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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for C12orf54 gene: 
    NM_152319.3  

    Unigene Cluster for C12orf54:

    Chromosome 12 open reading frame 54
    Hs.98202  [show with all ESTs]
    Unigene Representative Sequence: BQ432659
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000548364 ENST00000380491(uc009zky.1) ENST00000548913 ENST00000549398
    ENST00000551266 ENST00000314014(uc001rrr.3)

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    Inhib. RNA
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    Additional cDNA sequence: 

    AY255793.1 AY255794.1 BC031670.2 

    2 DOTS entries:

    DT.109656  DT.86846083 

    24 AceView cDNA sequences:

    AI424806 CD243980 NM_152319 AA417229 AA470158 BX280243 BC031670 BI830636 
    AI223202 BQ429029 AI221205 AA994175 AY255794 AA625977 BF510008 AA416539 
    AY255793 BI830556 AA813017 AW304048 AI215012 AI017776 AA923201 AI205752 

    GeneLoc Exon Structure


    Expression
    for C12orf54 gene

    (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

    C12orf54 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGTGGAGATG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See C12orf54 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C12orf54

    SOURCE GeneReport for Unigene cluster: Hs.98202
        SABiosciences Custom PCR Arrays for C12orf54
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    In Situ
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    Orthologs
    for C12orf54 gene

    (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 human and mouse.

    Orthologs for C12orf54 gene from 1 species (see representative species )    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia 1700031M16Rik5 RIKEN cDNA 1700031M16 gene   --   15 (54.40 cM) 98398445 


    ENSEMBL Gene Tree for C12orf54 (if available)
    TreeFam Gene Tree for C12orf54 (if available) 

    Paralogs
    for C12orf54 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for C12orf54 gene

    (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

    9 NCBI SNPs in C12orf54 are shown     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs57980721,2
    		C,--48874853(+) GCAAA-/GGATGA 1 -- us2k10--------
    rs789158111,2
    		C--48874992(+) TTTTT-/TTAAAA
                AAAAT     		1 -- us2k10--------
    rs669580271,2
    		C--48874994(+) AAAAA-/ATGACT 1 -- us2k11Minor allele frequency- A:0.00NA 2
    rs776322331,2
    		C,--48874994(+) TTTTTT/AAAAAA 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs350334341,2
    		C--48876719(+) CTCTC-/TTTTTT 1 -- int12Minor allele frequency- T:0.25NA 4
    rs57980741,2
    		C,--48881516(+) TACTC-/TTATATA 1 -- int12Minor allele frequency- TT:0.25NA 4
    rs1995192401,2
    		C--48881517(-) TATATA/GANNNN 1 -- int10--------
    rs723914971,2
    		----48887870(+) GTGGC-/TGAGGTG 1 -- int10--------
    rs2005528911,2
    		----48874994(+) TTTTT-/AAAAAAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for C12orf54 (48876286 - 48890297 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for C12orf54: --

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for C12orf54

    Disorders / Diseases
    for C12orf54 gene

    (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
    		   --

    Publications
    for C12orf54 gene

    (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 C12orf54 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C12orf54)    		    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. 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)
    3. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)

    External Searches for C12orf54 gene

    (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)

    Genome Databases showing C12orf54 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 121273 HGNC: 28553 AceView: MGC35033 Ensembl:ENSG00000177627 euGenes: HUgn121273
    ECgene: C12orf54 H-InvDB: C12orf54

    Other Databases showing C12orf54 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing C12orf54 gene

    (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 C12orf54 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for C12orf54 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for C12orf54 gene:
    Search GeneIP for patents involving C12orf54

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



    Products
    for C12orf54 gene

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    About This Section

     
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     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C12orf54
           
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    VWF
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    von Willebrand factor
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