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

C14orf2 Gene

protein-coding   GIFtS: 48
GCID: GC14M104378

chromosome 14 open reading frame 2

 Explore 2 diseases affiliated with
C14orf2 via our new
 Human Malady Compendium 
Biological research products
for C14orf2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Chromosome 14 Open Reading Frame 21 2
MP681 2 5
6.8 KDa Mitochondrial Proteolipid2
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, 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_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for C14orf2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, 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: 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)
Subcellular location: Mitochondrion (By similarity). Mitochondrion membrane; Single-pass membrane protein (Potential)
Sequence caution: Sequence=CAD61878.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: B2R588 Q86TT7

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P56378

  • C14orf2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000286953   ENSP00000452133   ENSP00000452186   ENSP00000401770   ENSP00000452462  
     ENSP00000450894   ENSP00000451500  

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    Uscn Proteins for C14orf2

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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


    C14orf2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for C14orf2


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

    C14orf2 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR012574 Mit_proteolip

    Graphical View of Domain Structure for InterPro Entry P56378

    ProtoNet protein and cluster: P56378

    1 Blocks protein family: IPB012574 Mitochondrial proteolipid

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


    (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

    Function Summary:
         Genatlas biochemistry entry for C14orf2:
    chromosome 14 open reading frame 2

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate C14orf2:
    hsa-miR-1909*
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C14orf2

    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--


    C14orf2 for ontologies           About GeneDecksing


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


    (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 C14orf2

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

    5/48 Interacting proteins for C14orf2 (ENSP000004017704) via UniProtKB, MINT, STRING, and/or I2D (see all 48)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATP5BENSP000002620304STRING: ENSP00000262030
    ATP5C1ENSP000003491424STRING: ENSP00000349142
    ATP5DENSP000002153754STRING: ENSP00000215375
    ATP5EENSP000002439974STRING: ENSP00000243997
    ATP5G1ENSP000003482054STRING: ENSP00000348205
    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:0008150biological_process ND--


    C14orf2 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 C14orf2
    Search CenterWatch for drugs/clinical trials and news about C14orf2 / 68MP 

    (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, 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 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
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    OriGene 3'-UTR Clone (see all 2): C14orf2
    Browse OriGene MicroRNA Expression Plasmids
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate C14orf2:
    hsa-miR-1909*
    SwitchGear 3'UTR luciferase reporter plasmidC14orf2 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for C14orf2 (see all 4)
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    Clone
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    Primer
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    Additional cDNA 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.120750461  DT.101985711  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 

    24/404 AceView cDNA sequences (see all 404):

    BC001944 CA431434 CB125195 AA548236 BX331524 AI264957 AA554533 BC000429 
    AK092779 AA557186 CB113879 AA635717 AJ712543 CB126437 BI259741 CB106550 
    AW592487 AV734517 BF219959 BE048299 BM714851 BM763790 BE791161 AI419753 

    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™, 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

    C14orf2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AATAAATGGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See C14orf2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C14orf2

    SOURCE GeneReport for Unigene cluster: Hs.109052
        SABiosciences Custom PCR Arrays for C14orf2
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C14orf2

    (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 C14orf2 gene from 1/7 species (see all 7)    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)
    About This Section
    Paralogs for C14orf2 gene
    5 SIMAP similar genes for C14orf2 using alignment to 2 protein entries:     G3V556_HUMAN (see all proteins):
    MP68    MEFV    APCDD1    BCKDHA    ZNF195

    C14orf2 for paralogs           About GeneDecksing


    4 Pseudogenes.org Pseudogenes for C14orf2
    PGOHUM00000257858 PGOHUM00000244032 PGOHUM00000246594 PGOHUM00000249759


    (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

    10/250 NCBI SNPs in C14orf2 are shown (see all 250    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs570476191,2
    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
    --104378328(+) TGTCTT/CAGATG 2 -- int13Minor allele frequency- C:0.05CSA WA NA 239
    rs1138512251,2
    --104378363(+) TTTGAC/TACTAG 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs1148386601,2
    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
    rs1403542531,2
    --104378842(+) CAGTAC/TCAGGT 2 -- ut310--------

    HapMap Linkage Disequilibrium report for C14orf2 (104378625 - 104394606 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for C14orf2
         1 CNV: 3949

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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.)
    About This Section

    C14orf2 for disorders           About GeneDecksing

    OMIM gene information: 604573    OMIM disorders: --

    2 diseases for C14orf2:    About MalaCards
    intrahepatic cholangiocarcinoma    cholangiocarcinoma


    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)
    About This Section

    PubMed articles for C14orf2 gene integrated from 9 sources:
    (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. (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. (2004)
    3. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    4. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    5. Mapping of transcription start sites of human retina expressed genes. (PubMed id 17286855)1 Roni V.... Wissinger B. (2007)
    6. 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. (2006)
    7. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    10. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1 Zhang Q.-H.... Chen Z. (2000)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9556 HGNC: 1188 AceView: C14orf2 Ensembl:ENSG00000156411 euGenes: HUgn9556
    ECgene: C14orf2 H-InvDB: C14orf2

    (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 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

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    In Situ Hybridization Assays from
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