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C12orf49 Gene

protein-coding   GIFtS: 46
GCID: GC12M117153          (predicted)

Chromosome 12 Open Reading Frame 49

  See related disease
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 491 2
UPF0454 Protein C12orf492

External Ids:    HGNC: 261281   Entrez Gene: 797942   Ensembl: ENSG000001114127   UniProtKB: Q9H7413   

Export aliases for C12orf49 gene to outside databases

Previous GC identifers: GC12M115617 GC12M114163


(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 C12orf49 Gene:
C12orf49 (chromosome 12 open reading frame 49) is a protein-coding gene. Diseases associated with C12orf49 include malaria.


(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  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C12orf49 gene promoter:
         p53   SREBP-1c   CBF-C   SREBP-1b   Egr-4   CBF-B   SREBP-1a   CBF-A   SEF-1 (1)   Msx-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C12orf49

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C12orf49


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

Entrez Gene cytogenetic band: 12q24.22   Ensembl cytogenetic band:  12q24.22   HGNC cytogenetic band: 12q24.22

C12orf49 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C12orf49 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M117153:  view genomic region     (about GC identifiers)

Start:
117,153,593 bp from pter      End:
117,175,875 bp from pter
Size:
22,283 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CL049_HUMAN, Q9H741 (See protein sequence)
Recommended Name: UPF0454 protein C12orf49 precursor  
Size: 205 amino acids; 23594 Da
Secondary accessions: Q53GE8

Explore the universe of human proteins at neXtProt for C12orf49: NX_Q9H741

Explore proteomics data for C12orf49 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn67, Thr185
  • Modification sites at PhosphoSitePlus

  • See C12orf49 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_079014.1  
    ENSEMBL proteins: 
     ENSP00000261318   ENSP00000446478   ENSP00000449151   ENSP00000447722   ENSP00000442947  

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    (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:
     IPR019352 UPF0454

    Graphical View of Domain Structure for InterPro Entry Q9H741

    ProtoNet protein and cluster: Q9H741

    UniProtKB/Swiss-Prot: CL049_HUMAN, Q9H741
    Similarity: Belongs to the UPF0454 family


    C12orf49 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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    Phenotypes:
         1 GenomeRNAi human phenotype for C12orf49:
     Decreased melanin production 

         1 MGI phenotypic allele for 2410131K14Rik (no phenotypes)

    C12orf49 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C12orf49
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    miRNA
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    hsa-mir-1 (MIRT003849), hsa-let-7e-5p (MIRT051453), hsa-mir-193b-3p (MIRT016544), hsa-let-7b-5p (MIRT052145)

    Block miRNA regulation of human, mouse, rat C12orf49 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate C12orf49 (see all 11):
    hsa-miR-502-5p hsa-miR-130a* hsa-miR-4272 hsa-miR-323b-3p hsa-miR-23c hsa-miR-450b-3p hsa-miR-23b hsa-miR-3126-3p
    SwitchGear 3'UTR luciferase reporter plasmidC12orf49 3' UTR sequence
    Inhib. RNA
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    (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
    CL049_HUMAN, Q9H741: Secreted (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular3
    mitochondrion2
    cytoskeleton1
    cytosol1
    golgi apparatus1
    lysosome1
    nucleus1
    plasma membrane1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--

    C12orf49 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 C12orf49
    Interactions:

        Search GeneGlobe Interaction Network for C12orf49

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for C12orf49 (ENSP000002613184) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TP53ENSP000002693054STRING: ENSP00000269305
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    About this table

    (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 C12orf49 (CL049)



    (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,
    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 C12orf49 gene: 
    NM_024738.1  

    Unigene Cluster for C12orf49:

    Chromosome 12 open reading frame 49
    Hs.592011  [show with all ESTs]
    Unigene Representative Sequence: AK025068
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000261318(uc001tvz.1 uc009zwm.1) ENST00000547630 ENST00000548356
    ENST00000547606 ENST00000536380
    miRNA
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    Block miRNA regulation of human, mouse, rat C12orf49 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate C12orf49 (see all 11):
    hsa-miR-502-5p hsa-miR-130a* hsa-miR-4272 hsa-miR-323b-3p hsa-miR-23c hsa-miR-450b-3p hsa-miR-23b hsa-miR-3126-3p
    SwitchGear 3'UTR luciferase reporter plasmidC12orf49 3' UTR sequence
    Inhib. RNA
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    Primer
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    OriGene qPCR primer pairs and template standards for C12orf49
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat C12orf49
      QuantiTect SYBR Green Assays in human, mouse, rat C12orf49
      QuantiFast Probe-based Assays in human, mouse, rat C12orf49

    Additional mRNA sequence: 

    AK025068.1 AK222983.1 AK298857.1 AK309652.1 BC019843.1 

    6 DOTS entries:

    DT.209967  DT.100767181  DT.102823524  DT.95260076  DT.100695386  DT.100767178 

    Selected AceView cDNA sequences (see all 164):

    AA360709 AK025068 AA512946 BU618785 CA418064 CK430661 AI189976 BF434458 
    AA709027 BQ225673 AA830108 AI818723 BX389599 BM981179 BQ009949 AI280940 
    AI356201 BQ437586 AI492878 BG150537 CD672058 BF196090 BF590567 CR625981 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for C12orf49    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c
    SP1:                                                            
    SP2:                    -     -                                 
    SP3:                          -     -                           


    ECgene alternative splicing isoforms for C12orf49

    (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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    C12orf49 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCCTGCCCT
    C12orf49 Expression
    About this image

    C12orf49 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C12orf49 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.592011
        Custom PCR Arrays for C12orf49
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C12orf49

    (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 C12orf49 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 2410131K14Rik1 , 5 RIKEN cDNA 2410131K14 gene1, 5 85.53(n)1
    92.68(a)1
      5 (58.32 cM)5
    767921  NM_001081236.11  NP_001074705.11 
     1182452275 
    chicken
    (Gallus gallus)
    Aves C15H12ORF491 chromosome 15 open reading frame, human C12orf49 80.81(n)
    83.9(a)
      417026  NM_001007841.1  NP_001007842.1 
    lizard
    (Anolis carolinensis)
    Reptilia C12orf496
    chromosome 12 open reading frame 49
    74(a)
    1 ↔ 1
    LGb(2290688-2295074)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.46702 Xenopus laevis transcribed sequences 73.29(n)    AW643959.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.152412 Transcribed sequence with moderate similarity to protein more 78.35(n)    BQ074323.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG156431 CG15643 56.52(n)
    46.74(a)
      32489  NM_176736.1  NP_788909.1 


    ENSEMBL Gene Tree for C12orf49 (if available)
    TreeFam Gene Tree for C12orf49 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for C12orf49 gene

    C12orf49 for paralogs           About GeneDecksing


    5 Pseudogenes.org Pseudogenes for C12orf49
    PGOHUM00000238756 PGOHUM00000259015 PGOHUM00000249521 PGOHUM00000260539 PGOHUM00000242010


    (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 C12orf49 (see all 432)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1857106151,2
    --117153097(+) CAAGGC/TGTATC 1 -- int10--------
    rs3394601,2
    C,F,O,A,H--117153263(+) AGCCCA/GGCTTC 1 -- int133Minor allele frequency- T:0.01EA NA NS WA CSA 3057
    rs47674401,2
    C,F,A,H--117153385(+) CACCTA/GATTTG 1 -- int130Minor allele frequency- G:0.31EA NA NS WA CSA 2927
    rs1889093101,2
    --117153410(+) CTCGCC/TCCTCT 1 -- int10--------
    rs1132139111,2
    C,F--117153449(+) CTCTCT/AGGGGA 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs339616431,2
    C,F--117153492(+) GAGACAG/-GGGGA 1 -- int15Minor allele frequency- -:0.22EU EA NA MN 430
    rs1452652021,2
    --117153561(+) TCAGCA/GGGGAC 1 -- int10--------
    rs1862754621,2
    --117153689(+) GCGCTC/GTTCAA 1 -- ut310--------
    rs1915690701,2
    --117153905(+) AATCCA/GGCACA 1 -- ut310--------
    rs764168671,2
    C,F--117154218(+) AATAAC/AGTGAA 1 -- ut312Minor allele frequency- A:0.50WA CSA 4

    HapMap Linkage Disequilibrium report for C12orf49 (117153593 - 117175875 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for C12orf49:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv832523CNV Gain+Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C12orf49
    DNA2.0 Custom Variant and Variant Library Synthesis for C12orf49

    (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.)
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    1 disease for C12orf49:    
    About MalaCards
    malaria


    C12orf49 for disorders           About GeneDecksing


    Export disorders for C12orf49 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 C12orf49 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with C12orf49)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    2. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (EMBO J. 2009)
    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. (Genome Res. 2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (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: 79794 HGNC: 26128 AceView: FLJ21415 Ensembl:ENSG00000111412 euGenes: HUgn79794
    ECgene: C12orf49 H-InvDB: C12orf49

    (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 C12orf49 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 C12orf49 gene:
    Search GeneIP for patents involving C12orf49

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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