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

C12orf10 Gene

protein-coding   GIFtS: 52
GCID: GC12P053693

chromosome 12 open reading frame 10

 Explore 2 diseases affiliated with
C12orf10 via our new
 Human Malady Compendium 
Biological research products
for C12orf10
    

(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 101 2     MSTP0242
MYG1 2     Melanocyte Related2
MYG11 2     UPF0160 Protein MYG1, Mitochondrial2
MST0242     

External Ids:    HGNC: 175901   Entrez Gene: 603142   Ensembl: ENSG000001396377   OMIM: 6113665   UniProtKB: Q9HB073   

Export aliases for C12orf10 gene to outside databases

Previous GC identifers: GC12M054008 GC12M053803 GC12P053411 GC12P051979 GC12P050734


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

  --

(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 C12orf10 gene promoter:
         c-Fos   AP-1   c-Jun   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C12orf10

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C12orf10


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

Entrez Gene cytogenetic band: 12q13   Ensembl cytogenetic band:  12q13.13   HGNC cytogenetic band: 12q13.13

C12orf10 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C12orf10 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P053693:  view genomic region     (about GC identifiers)

Start:
53,693,470 bp from pter      End:
53,700,965 bp from pter
Size:
7,496 bases      Orientation:
plus strand

(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: MYG1_HUMAN, Q9HB07 (See protein sequence)
Recommended Name: UPF0160 protein MYG1, mitochondrial precursor  
Size: 376 amino acids; 42449 Da
Subcellular location: Nucleus. Mitochondrion

Explore the universe of human proteins at neXtProt for C12orf10: NX_Q9HB07

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9HB07

  • C12orf10 Protein expression data from MOPED and PaxDb:    About this image 
    C12orf10 Protein Expression
    REFSEQ proteins: NP_067653.3  
    ENSEMBL proteins: 
     ENSP00000267103   ENSP00000450270   ENSP00000448433   ENSP00000455319  

    Human Recombinant Protein Products for C12orf10: 
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    Uscn Proteins for C12orf10

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005634nucleus IEA--
    GO:0005739mitochondrion IEA--

    C12orf10 for ontologies           About GeneDecksing



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

    C12orf10 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR003226 Met-dep_prot_hydro

    Graphical View of Domain Structure for InterPro Entry Q9HB07

    ProtoNet protein and cluster: Q9HB07

    1 Blocks protein family: IPB003226 Metal-dependent protein hydrolase

    UniProtKB/Swiss-Prot: MYG1_HUMAN, Q9HB07
    Similarity: Belongs to the UPF0160 (MYG1) family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 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:0003674molecular_function ND--
         
    C12orf10 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for C12orf10:
     Increased gamma-H2AX phosphory 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Myg1):
     behavior/neurological  homeostasis/metabolism 

    C12orf10 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for C12orf10 

    miRNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C12orf10


    (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 C12orf10

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    5/43 Interacting proteins for C12orf10 (Q9HB072, 3 ENSP000002671034) via UniProtKB, MINT, STRING, and/or I2D (see all 43)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSP90AB1P082382, 3MINT-72683 I2D: score=2 
    COPS5Q929053, ENSP000003505124I2D: score=1 STRING: ENSP00000350512
    REXO2Q9Y3B83, ENSP000002658814I2D: score=1 STRING: ENSP00000265881
    RFC3P409383, ENSP000003694114I2D: score=1 STRING: ENSP00000369411
    AURKCQ9UQB93I2D: score=3 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0043473pigmentation NAS16996721

    C12orf10 for ontologies           About GeneDecksing



    (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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for C12orf10
    Search CenterWatch for drugs/clinical trials and news about C12orf10 / MYG1 

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    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 C12orf10 gene: 
    NM_021640.3  

    Unigene Cluster for C12orf10:

    Chromosome 12 open reading frame 10
    Hs.655988  [show with all ESTs]
    Unigene Representative Sequence: BQ073269
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000267103(uc001scp.4 uc009zmx.3) ENST00000548845(uc001scq.4)
    ENST00000551670(uc010sof.1) ENST00000548632 ENST00000551131 ENST00000549488
    ENST00000547864 ENST00000550199 ENST00000549177 ENST00000547490

    miRNA
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    Inhib. RNA
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    Additional cDNA sequence: 

    AF111805.1 AF289485.1 AK293449.1 BC013956.2 BC028904.1 BC051871.1 

    16 DOTS entries:

    DT.70105339  DT.452908  DT.92434503  DT.100797236  DT.100732606  DT.100030453  DT.100797230  DT.121216850 
    DT.95299047  DT.100797231  DT.100797232  DT.100797234  DT.100797235  DT.121216842  DT.86855507  DT.92325334 

    24/968 AceView cDNA sequences (see all 968):

    BM694079 BM690589 CD512789 BM704635 BI858202 BG420843 BE797290 BF589750 
    NM_145897 BQ086377 BM844252 BM795658 AA328418 BP872625 BU500562 CF128949 
    W92940 AA643111 AI126765 BU070246 BE787951 AW664340 BI768073 CD176626 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for C12orf10 (see all 8)    About this scheme

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


    ECgene alternative splicing isoforms for C12orf10

    (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

    C12orf10 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCCCGTGCCA
    C12orf10 Expression
    About this image
    See C12orf10 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C12orf10

    SOURCE GeneReport for Unigene cluster: Hs.655988

    UniProtKB/Swiss-Prot: MYG1_HUMAN, Q9HB07
    Tissue specificity: Ubiquitously expressed, with highest levels in testis

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    In Situ
    Assay Products:
     

     
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    (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 eukaryotes.

    Orthologs for C12orf10 gene from 10/35 species (see all 35)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Myg11 , 5 melanocyte proliferating gene 11, 5 85.51(n)1
    88.32(a)1
      15 (57.49 cM)5
    603151  NM_021713.21  NP_068359.11 
     1023317095 
    chicken
    (Gallus gallus)
    Aves LOC4261871 chromosome unknown open reading frame, human C12orf1 more 64.02(n)
    64.63(a)
      426187  XM_423851.3  XP_423851.2 
    lizard
    (Anolis carolinensis)
    Reptilia C12orf106
    --
    63(a)
    1 ↔ 1
    GL343536.1(69044-84811)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.244012 Xenopus laevis transcribed sequence with moderate similarity more 75.2(n)    BG656914.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa14e092 Transcribed sequence with weak similarity to protein more 75.27(n)    CA480612.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG119801 , 3 CG119801 41(a)3
    51.9(n)1
    45.23(a)1
      410781  NM_169250.11  NP_731302.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C27H6.81 Protein C27H6.8 53.06(n)
    49.05(a)
      179392  NM_171524.2  NP_741610.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes (YER156C)4
    YER156C1
    Putative protein of unknown function; interacts with more4
    hypothetical protein1
    51.94(n)1
    45.71(a)1
      5(484341-483325)4
    8569001, 4  NP_011083.31  NP_011083.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G419701 Metal-dependent protein hydrolase 53.26(n)
    50.29(a)
      834202  NM_123562.4  NP_199012.2 
    rice
    (Oryza sativa)
    Liliopsida Os.473982 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 70.59(n)    AK102917.1 


    ENSEMBL Gene Tree for C12orf10 (if available)
    TreeFam Gene Tree for C12orf10 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C12orf10 gene
    1 SIMAP similar gene for C12orf10 using alignment to 6 protein entries:     MYG1_HUMAN (see all proteins):
    MST024

    C12orf10 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for C12orf10
    PGOHUM00000239952 PGOHUM00000240002


    (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

    10/109 NCBI SNPs in C12orf10 are shown (see all 109    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1387015881,2
    C--53693777(+) GCATGA/CATGCC 1 -- int10--------
    rs1494051871,2
    C--53693884(+) TTAATC/TCCCTA 1 -- int10--------
    rs1390566251,2
    C--53693954(+) CGGACC/GCGGGA 2 T syn11Minor allele frequency- G:0.00NA 4522
    rs1439208951,2
    C,F--53693956(+) GACCCG/AGGATC 2 /Q /R mis11Minor allele frequency- A:0.00NA 4520
    rs1513199271,2
    F--53694005(+) GGGGGC/AGAGTA 2 /G syn11Minor allele frequency- A:0.00NA 4534
    rs1928085541,2
    C--53694028(+) ACACCA/GATATG 2 Q R mis10--------
    rs1134959401,2
    C,F--53694044(+) CACCAG/AAGGTA 2 /Q syn12Minor allele frequency- A:0.01CSA NA 4508
    rs2006920721,2
    --53694089(+) CTCAGC/GTTTCC 1 -- int10--------
    rs578201241,2
    C--53694140(+) CAGCGA/GAAAGA 1 -- int12Minor allele frequency- G:0.04WA 120
    rs792410291,2
    F--53694240(+) CTCCTT/GTGGTT 1 -- int13Minor allele frequency- G:0.06CSA WA 125

    HapMap Linkage Disequilibrium report for C12orf10 (53693470 - 53700965 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for C12orf10: --
    Human Gene Mutation Database (HGMD): C12orf10

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C12orf10
    DNA2.0 Custom Variant and Variant Library Synthesis for C12orf10

    (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

    C12orf10 for disorders           About GeneDecksing

    OMIM gene information: 611366    OMIM disorders: --

    2 diseases for C12orf10:    About MalaCards
    vitiligo    malaria

    1 disease from the University of Copenhagen DISEASES database for C12orf10:
    Vitiligo
    Human Genome Epidemiology (HuGE) Navigator: C12orf10 (2 documents)

    Export disorders for C12orf10 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)
    About This Section

    PubMed articles for C12orf10 gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with C12orf10)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of MYG1 gene and protein: subcellular distribution and function. (PubMed id 19014353)1, 2, 9 Philips M.-A.... Nielsen F.C. (2009)
    2. Promoter polymorphism -119C/G in MYG1 (C12orf10) gene is related to vitiligo susceptibility and Arg4Gln affects mitochondrial entran ce of Myg1. (PubMed id 20377893)1, 9 Philips M.A....KA/ks S. (2010)
    3. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    4. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    5. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    7. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    8. Comparative proteomic analysis identifies a role for S UMO in protein quality control. (PubMed id 21693764)1 Tatham M.H....Hay R.T. (2011)
    9. Lysine acetylation targets protein complexes and co-regulates major cellular functions. (PubMed id 19608861)2 Choudhary C.... Mann M. (2009)
    10. Quantitative analysis of global ubiquitination in HeLa cells by mass spectrometry. (PubMed id 18781797)1 Meierhofer D.... Kaiser P. (2008)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 60314 HGNC: 17590 AceView: PFDN5andC12orf10 Ensembl:ENSG00000139637 euGenes: HUgn60314
    ECgene: C12orf10 H-InvDB: C12orf10

    (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 C12orf10 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 C12orf10 gene:
    Search GeneIP for patents involving C12orf10

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