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C12orf57 Gene

protein-coding   GIFtS: 44
GCID: GC12P007150

Chromosome 12 Open Reading Frame 57

  See related diseases
at  

(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 12 Open Reading Frame 571 2
C102 3 5
TEMTYS2 5
GRCC102
Likely Ortholog Of Mouse Gene Rich Cluster, C102
Protein C102

External Ids:    HGNC: 295211   Entrez Gene: 1132462   Ensembl: ENSG000001116787   OMIM: 6151405   UniProtKB: Q996223   

Export aliases for C12orf57 gene to outside databases

Previous GC identifers: GC12P006927 GC12P006929 GC12P006932 GC12P006934 GC12P006937 GC12P006939 GC12P007053 GC12P007057 GC12P007059 GC12P007062 GC12P007094 GC12P007117


(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 C12orf57 Gene:
C12orf57 (chromosome 12 open reading frame 57) is a protein-coding gene. Diseases associated with C12orf57 include temtamy syndrome, and microphthalmia.

UniProtKB/Swiss-Prot: C10_HUMAN, Q99622
Function: In brain, may be required for corpus callusum development




(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:
NC_000012.12  NC_018923.2  NT_009759.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the C12orf57 gene promoter:
         Bach1   GATA-3   AP-1   ATF-2   c-Jun   NF-kappaB   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC12orf57 promoter sequence
   Search Chromatin IP Primers for C12orf57

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C12orf57


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

Entrez Gene cytogenetic band: 12p13.31   Ensembl cytogenetic band:  12p13.31   HGNC cytogenetic band: 12p13.31

C12orf57 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C12orf57 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P007150:  view genomic region     (about GC identifiers)

Start:
7,052,141 bp from pter      End:
7,055,166 bp from pter
Size:
3,026 bases      Orientation:
plus 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, 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., 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: C10_HUMAN, Q99622 (See protein sequence)
Recommended Name: Protein C10  
Size: 126 amino acids; 13178 Da
Secondary accessions: B2R4Q6

Explore the universe of human proteins at neXtProt for C12orf57: NX_Q99622

Explore proteomics data for C12orf57 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys80, Lys86
  • Modification sites at PhosphoSitePlus

  • See C12orf57 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_612434.1  
    ENSEMBL proteins: 
     ENSP00000440602   ENSP00000475422   ENSP00000440937   ENSP00000229281   ENSP00000475635  

    C12orf57 Human Recombinant Protein Products:

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    C12orf57 Assay Products:

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    Browse CLIAs at Cloud-Clone Corp.


    (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:
     IPR026317 P_C10

    Graphical View of Domain Structure for InterPro Entry Q99622

    ProtoNet protein and cluster: Q99622

    UniProtKB/Swiss-Prot: C10_HUMAN, Q99622
    Similarity: Belongs to the UPF0456 family


    C12orf57 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: C10_HUMAN, Q99622
    Function: In brain, may be required for corpus callusum development

    Animal Models:

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C12orf57
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    miRNA
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    miRTarBase miRNAs that target C12orf57:
    hsa-mir-1 (MIRT023655), hsa-mir-615-3p (MIRT039956), hsa-mir-92a-3p (MIRT049620)

    Block miRNA regulation of human, mouse, rat C12orf57 using miScript Target Protectors
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    Clone
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    GenScript: all cDNA clones in your preferred vector: C12orf57 (NM_138425)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C12orf57
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C12orf57

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C12orf57


    (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 UniProtKB/Swiss-Prot
    C10_HUMAN, Q99622: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    extracellular1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--

    C12orf57 for ontologies           About GeneDecksing


    (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 C12orf57
    Interactions:

        Search GeneGlobe Interaction Network for C12orf57

    (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 C12orf57 (C10)



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for C12orf57 gene: 
    NM_138425.2  

    Unigene Cluster for C12orf57:

    Chromosome 12 open reading frame 57
    Hs.405913  [show with all ESTs]
    Unigene Representative Sequence: BM548362
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000538392(uc009zfj.1) ENST00000542222 ENST00000545581 ENST00000544681
    ENST00000537087 ENST00000229281(uc001qrz.3) ENST00000540506
    miRNA
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    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat C12orf57
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C12orf57
    Primer
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    OriGene qPCR primer pairs and template standards for C12orf57
    OriGene qSTAR qPCR primer pairs in human, mouse for C12orf57
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat C12orf57
      QuantiTect SYBR Green Assays in human, mouse, rat C12orf57
      QuantiFast Probe-based Assays in human, mouse, rat C12orf57

    Additional mRNA sequence: 

    AK074416.1 AK310266.1 AK311912.1 BC009925.2 

    24 DOTS entries:

    DT.119456  DT.40261371  DT.101962210  DT.121157962  DT.121157526  DT.95183102  DT.121157428  DT.121157255 
    DT.121157585  DT.91796877  DT.121157900  DT.95183084  DT.99974672  DT.121157453  DT.100876961  DT.121157333 
    DT.100876960  DT.121157267  DT.97859182  DT.100876963  DT.121157538  DT.100876954  DT.100876965  DT.100032994 

    3 AceView cDNA sequences:

    CR620372 BC009925 NM_138425 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for C12orf57    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3a · 3b
    SP1:                          -     -               
    SP2:                                                
    SP3:                                                


    ECgene alternative splicing isoforms for C12orf57

    (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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    C12orf57 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    C12orf57 Expression
    About this image


    C12orf57 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 19) fully expand
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Colon (Gastrointestinal Tract)
     
     Uterus (Reproductive System)
     
     Thyroid (Endocrine System)
    C12orf57 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C12orf57 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.405913

    UniProtKB/Swiss-Prot: C10_HUMAN, Q99622
    Tissue specificity: Ubiquitously expressed, with higher expression in lung and fetal brain

        Custom PCR Arrays for C12orf57
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C12orf57

    (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.

    Orthologs for C12orf57 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Grcc101 , 5 gene rich cluster, C10 gene1, 5 88.62(n)1
    97.62(a)1
      6 (59.17 cM)5
    147901  NM_013535.11  NP_038563.11 
     1247391835 
    chicken
    (Gallus gallus)
    Aves C12ORF571 chromosome 1 open reading frame, human C12orf57 80.38(n)
    85.48(a)
      771099  NM_001278146.1  NP_001265075.1 
    lizard
    (Anolis carolinensis)
    Reptilia C12orf576
    chromosome 12 open reading frame 57
    75(a)
    1 ↔ 1
    GL343453.1(601775-610059)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia c12orf571 chromosome 12 open reading frame 57 60.3(n)
    60.91(a)
      394516  NM_203589.2  NP_988920.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc02g042 Danio rerio clone RK073A2E05 C10-like protein (GRCC1 more 76.61(n)    AY398355.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG153876
    --
    31(a)
    1 ↔ 1
    2L(2225545-2226840)


    ENSEMBL Gene Tree for C12orf57 (if available)
    TreeFam Gene Tree for C12orf57 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for C12orf57 gene

    C12orf57 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for C12orf57
    PGOHUM00000244319


    (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 C12orf57 (see all 13)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0697744
    Temtamy syndrome (TEMTYS)4--see VAR_0697742 L Q mis40--------
    rs1472395401,2
    --7053586(+) GCTGTC/TTGTTC 1 -- int10--------
    rs1917111011,2
    C--7053636(+) GCGCGC/TAGTGG 1 -- int10--------
    rs1460248021,2
    C--7053648(+) CCTCGC/TGGAGG 2 A V mis12Minor allele frequency- T:0.00NA EU 5219
    rs110644721,2
    H--7053661(+) ATCCAG/AGCGTT 2 /Q syn1 ese34Minor allele frequency- A:0.00NS EA 420
    rs1399388081,2
    C,F--7053672(+) CTCCGC/TCCCGG 2 A V mis11Minor allele frequency- T:0.00NA 4496
    rs3693261781,2
    ----7053626(+) GATGCC/TTCTGG 1 -- int10--------
    rs1427431551,2
    ----7053647(+) TCCTCG/ACGGAG 2 /T /A mis11Minor allele frequency- A:0.00NA 4366
    rs3748364041,2
    ----7053638(+) GCGCAA/GTGGTC 1 -- spa10--------
    rs3734812751,2
    ----7053685(+) AATGCA/GGTGCG 2 A syn10--------

    HapMap Linkage Disequilibrium report for C12orf57 (7052141 - 7055166 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for C12orf57:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509453CNV Insertion20534489
    nsv898641CNV Loss21882294
    esv5830CNV Gain19470904

    Human Gene Mutation Database (HGMD): C12orf57
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C12orf57
    DNA2.0 Custom Variant and Variant Library Synthesis for C12orf57

    (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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    OMIM gene information: 615140   
    OMIM disorders: 218340  
    UniProtKB/Swiss-Prot: C10_HUMAN, Q99622
  • Temtamy syndrome (TEMTYS) [MIM:218340]: A mental retardation/multiple congenital anomaly syndrome
    characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities, including
    abnormalities of the corpus callosum and thalamus. Note=The disease is caused by mutations affecting the gene
    represented in this entry. A variant resulting in a GUG start codon may be able to produce some protein because
    of a consensus Kozak sequence, although less efficiently than the wild type. This would explain the phenotypic
    variability observed

  • 3 diseases for C12orf57:    
    About MalaCards
    temtamy syndrome    microphthalmia    alzheimer's disease


    C12orf57 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: C12orf57 (1 document)

    Export disorders for C12orf57 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 C12orf57 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with C12orf57)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A newly recognized autosomal recessive syndrome affecting neurologic function and vision. (PubMed id 23633300)1, 2 Salih M.A....Bosley T.M. (Am. J. Med. Genet. A 2013)
    2. Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. (PubMed id 23453666)1, 2 Akizu N....Gleeson J.G. (Am. J. Hum. Genet. 2013)
    3. Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia. (PubMed id 23453665)1, 2 Zahrani F....Alkuraya F.S. (Am. J. Hum. Genet. 2013)
    4. 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. (Genome Res. 2004)
    5. Comparative sequence analysis of a gene-rich cluster at human chromosome 12p13 and its syntenic region in mouse chromosome 6. (PubMed id 9445485)1, 3 Ansari-Lari M.A....Gibbs R.A. (Genome Res. 1998)
    6. Large-scale sequencing in human chromosome 12p13: experimental and computational gene structure determination. (PubMed id 9074930)1, 2 Ansari-Lari M.A.... Gibbs R.A. (Genome Res. 1997)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    8. Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-I+-acetylation features. (PubMed id 22223895)2 Bienvenut W.V....Giglione C. (amp 2012)
    9. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)

    (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: 113246 HGNC: 29521 AceView: GRCC10 Ensembl:ENSG00000111678 euGenes: HUgn113246
    ECgene: C12orf57 H-InvDB: C12orf57

    (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 C12orf57 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 C12orf57 gene:
    Search GeneIP for patents involving C12orf57

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