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C14orf2 Gene

protein-coding   GIFtS: 49
GCID: GC14M104378

Chromosome 14 Open Reading Frame 2

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(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 14 Open Reading Frame 21 2
6.8 KDa Mitochondrial Proteolipid1 2
MP682 5
PLPM2

External Ids:    HGNC: 11881   Entrez Gene: 95562   Ensembl: ENSG000001564117   OMIM: 6045735   UniProtKB: P563783   

Export aliases for C14orf2 gene to outside databases

Previous GC identifers: GC14M101769 GC14M098194 GC14M102368 GC14M103448 GC14M084559


(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 C14orf2 Gene:
C14orf2 (chromosome 14 open reading frame 2) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000014.8  NC_018925.2  NT_026437.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the C14orf2 gene promoter:
         STAT5B   STAT1   STAT4   STAT6   STAT1beta   STAT5A   STAT1alpha   Egr-2   STAT2   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC14orf2 promoter sequence
   Search Chromatin IP Primers for C14orf2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C14orf2


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

Entrez Gene cytogenetic band: 14q32.33   Ensembl cytogenetic band:  14q32.33   HGNC cytogenetic band: 14q32.33

C14orf2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C14orf2 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M104378:  view genomic region     (about GC identifiers)

Start:
104,378,625 bp from pter      End:
104,394,606 bp from pter
Size:
15,982 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: 68MP_HUMAN, P56378 (See protein sequence)
Recommended Name: 6.8 kDa mitochondrial proteolipid  
Size: 58 amino acids; 6662 Da
Subunit: Component of an ATP synthase complex composed of ATP5F1, ATP5G1, ATP5E, ATP5H, ATP5I, ATP5J, ATP5J2,
MT-ATP6, MT-ATP8, ATP5A1, ATP5B, ATP5D, ATP5C1, ATP5O, ATP5L, USMG5 and MP68 (By similarity)
Sequence caution: Sequence=EAW81849.1; Type=Erroneous gene model prediction;
Secondary accessions: B2R588 G3V5Q3 Q86TT7
Alternative splicing: 2 isoforms:  P56378-1   P56378-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C14orf2: NX_P56378

Explore proteomics data for C14orf2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See C14orf2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001120865.1  NP_004885.1  

    ENSEMBL proteins: 
     ENSP00000286953   ENSP00000452133   ENSP00000452186   ENSP00000401770   ENSP00000452462  
     ENSP00000450894   ENSP00000451500  

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    Search eBioscience for ELISAs for C14orf2 


    (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:
     IPR012574 Mit_proteolip

    Graphical View of Domain Structure for InterPro Entry P56378

    ProtoNet protein and cluster: P56378

    1 Blocks protein domain: IPB012574 Mitochondrial proteolipid

    UniProtKB/Swiss-Prot: 68MP_HUMAN, P56378
    Similarity: Belongs to the small mitochondrial proteolipid family


    Find genes that share domains with C14orf2           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:
         Genatlas biochemistry entry for C14orf2:
    chromosome 14 open reading frame 2

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    Find genes that share ontologies with C14orf2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for C14orf2:
     Decreased nuclei size in G2M 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C14orf2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for C14orf2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for C14orf2

    miRNA
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    miRTarBase miRNAs that target C14orf2:
    hsa-mir-26b-5p (MIRT028884)

    Block miRNA regulation of human, mouse, rat C14orf2 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate C14orf2:
    hsa-miR-1909*
    SwitchGear 3'UTR luciferase reporter plasmidC14orf2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for C14orf2
    Predesigned siRNA for gene silencing in human, mouse, rat C14orf2

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    Browse Sino Biological Human cDNA Clones
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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
    68MP_HUMAN, P56378: Mitochondrion (By similarity). Mitochondrion membrane; Single-pass membrane protein
    (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    extracellular2
    nucleus2
    plasma membrane2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005739mitochondrion ----
    GO:0005753mitochondrial proton-transporting ATP synthase complex ISS--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with C14orf2           About GenesLikeMe


    (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 C14orf2
    Interactions:

        Search GeneGlobe Interaction Network for C14orf2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for C14orf2 (ENSP000004017704) via UniProtKB, MINT, STRING, and/or I2D (see all 48)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATP5A1ENSP000002820504STRING: ENSP00000282050
    ATP5BENSP000002620304STRING: ENSP00000262030
    ATP5C1ENSP000003491424STRING: ENSP00000349142
    ATP5DENSP000002153754STRING: ENSP00000215375
    ATP5EENSP000002439974STRING: ENSP00000243997
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    Find genes that share ontologies with C14orf2           About GenesLikeMe



    (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 C14orf2 (68MP)



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for C14orf2 gene (2 alternative transcripts): 
    NM_001127393.1  NM_004894.2  

    Unigene Cluster for C14orf2:

    Chromosome 14 open reading frame 2
    Hs.109052  [show with all ESTs]
    Unigene Representative Sequence: AK092779
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000286953(uc001yoi.4) ENST00000554880 ENST00000555030 ENST00000414262(uc001yoj.4)
    ENST00000553430(uc010aww.2 uc001yok.3) ENST00000554287 ENST00000557040
    ENST00000553449 ENST00000554089 ENST00000554713 ENST00000557260 ENST00000554528

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat C14orf2 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate C14orf2:
    hsa-miR-1909*
    SwitchGear 3'UTR luciferase reporter plasmidC14orf2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for C14orf2
    Predesigned siRNA for gene silencing in human, mouse, rat C14orf2
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat C14orf2
      QuantiTect SYBR Green Assays in human, mouse, rat C14orf2
      QuantiFast Probe-based Assays in human, mouse, rat C14orf2

    Additional mRNA sequence: 

    AF054175.1 AF116639.1 AK092779.1 AK309355.1 AK309499.1 AK310120.1 AK312099.1 BC000429.2 
    BC001944.1 BC047289.1 BC063419.1 BX161388.1 

    22 DOTS entries:

    DT.218411  DT.99980551  DT.91656015  DT.101985711  DT.120750461  DT.91756579  DT.120750462  DT.100059537 
    DT.40215838  DT.120750454  DT.91937107  DT.97856195  DT.100059538  DT.100809981  DT.120750456  DT.95152010 
    DT.100804777  DT.100853250  DT.120750476  DT.40280154  DT.91756580  DT.120750442 

    Selected AceView cDNA sequences (see all 404):

    H95707 CB106550 AI148765 BF219959 AA906338 BE791161 CA431434 BF037860 
    CR593417 F36194 AA907836 BE673362 CB158808 BQ021090 AA923727 BI752735 
    AW249748 CB242114 AJ712543 BE048299 BU856969 BC063419 BC047289 BU535407 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for C14orf2    About this scheme

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


    ECgene alternative splicing isoforms for C14orf2

    (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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    C14orf2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATAAATGGA
    C14orf2 Expression
    About this image


    C14orf2 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)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    C14orf2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C14orf2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.109052
        Custom PCR Arrays for C14orf2
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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)
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    This gene was present in the common ancestor of human and mouse.

    Orthologs for C14orf2 gene from Selected species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 2010107E04Rik1 , 5 RIKEN cDNA 2010107E04 gene1, 5 81.03(n)1
    72.41(a)1
      12 (61.14 cM)5
    702571  NM_027360.21  NP_081636.11 
     1119613765 


    ENSEMBL Gene Tree for C14orf2 (if available)
    TreeFam Gene Tree for C14orf2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for C14orf2 gene
    5 SIMAP similar genes for C14orf2 using alignment to 1 protein entry:     G3V556_HUMAN:
    MP68    MEFV    APCDD1    BCKDHA    ZNF195

    Find genes that share paralogs with C14orf2           About GenesLikeMe


    4 Pseudogenes.org Pseudogenes for C14orf2
    PGOHUM00000257858 PGOHUM00000244032 PGOHUM00000246594 PGOHUM00000249759


    (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 C14orf2 (see all 315)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1928535941,2
    --84569374(+) ACACAG/TGGAAT 2 -- us2k10--------
    rs570476191,2
    C,F--104378146(+) ACACAG/AATGAT 2 -- int12Minor allele frequency- A:0.08WA NA 238
    rs101479391,2
    C,F,H--104378232(+) ACCTGC/AAGAGT 2 -- int119Minor allele frequency- A:0.21NS EA NA CSA WA 2019
    rs1844298521,2
    --104378284(+) TGCTTC/TAGAAT 2 -- int10--------
    rs1491329341,2
    --104378299(+) TTAGCA/GCACAA 2 -- int10--------
    rs752502861,2
    C,F--104378328(+) TGTCTT/CAGATG 2 -- int13Minor allele frequency- C:0.05CSA WA NA 239
    rs1138512251,2
    F--104378363(+) TTTGAC/TACTAG 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs1148386601,2
    C,F--104378367(+) ATACTA/CGCCTA 2 -- int11Minor allele frequency- C:0.04WA 118
    rs1387412581,2
    --104378651(+) ATAAAC/TGTTTA 2 -- ut310--------
    rs568177541,2
    C--104378765(+) GCATGC/TGCTGC 2 -- ut312Minor allele frequency- T:0.07WA 120

    HapMap Linkage Disequilibrium report for C14orf2 (104378625 - 104394606 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for C14orf2:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv1997n71CNV Loss21882294
    nsv902318CNV Loss21882294
    nsv902319CNV Gain21882294
    dgv658e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C14orf2
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    (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: 604573    OMIM disorders: --


    Find genes that share disorders with C14orf2           About GenesLikeMe


    Export disorders for C14orf2 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 C14orf2 gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with C14orf2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full- length cDNA cloning. (PubMed id 9653160)1, 2, 3 Mao M.... Chen Z. (Proc. Natl. Acad. Sci. U.S.A. 1998)
    2. 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)
    3. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    4. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    5. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    6. Mapping of transcription start sites of human retina expressed genes. (PubMed id 17286855)1 Roni V.... Wissinger B. (BMC Genomics 2007)
    7. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. (PubMed id 16712791)1 Wang A.G....Kim N.S. (Biochem. Biophys. Res. Commun. 2006)
    8. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)2 Heilig R.... Weissenbach J. (Nature 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9556 HGNC: 1188 AceView: C14orf2 Ensembl:ENSG00000156411 euGenes: HUgn9556
    ECgene: C14orf2 H-InvDB: C14orf2

    (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 C14orf2 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 C14orf2 gene:
    Search GeneIP for patents involving C14orf2

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



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