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

C12orf65 Gene

protein-coding   GIFtS: 46
GCID: GC12P123717

Chromosome 12 Open Reading Frame 65

  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)
About This Section

Aliases
Chromosome 12 Open Reading Frame 651 2
COXPD72 5
SPG552
Probable Peptide Chain Release Factor C12orf65, Mitochondrial2

External Ids:    HGNC: 267841   Entrez Gene: 915742   Ensembl: ENSG000001309217   OMIM: 6135415   UniProtKB: Q9H3J63   

Export aliases for C12orf65 gene to outside databases

Previous GC identifers: GC12P122283 GC12P120678


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

Entrez Gene summary for C12orf65 Gene:
This nuclear gene encodes a mitochondrial matrix protein that appears to contribute to peptide chain termination
in the mitochondrial translation machinery. Two different 1 bp deletions (resulting in the same premature stop
codon)result in decreased mitochondrial translation, decreased levels of oxidative phosphorylation complexes and
encepthalomyopathy. Alternative splicing results in multiple transcript variants. (provided by RefSeq, Aug 2010)

GeneCards Summary for C12orf65 Gene: 
C12orf65 (chromosome 12 open reading frame 65) is a protein-coding gene. Diseases associated with C12orf65 include autosomal recessive spastic paraplegia type 55, and combined oxidative phosphorylation deficiency 7. GO annotations related to this gene include translation release factor activity.

UniProtKB/Swiss-Prot: CL065_HUMAN, Q9H3J6
Function: May act as a codon-independent translation release factor that has lost all stop codon specificity and
directs the termination of translation in mitochondrion (By similarity)




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NT_009755.19  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C12orf65 gene promoter:
         FOXI1   HFH-3   GATA-3   FOXD3   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): C12orf65 promoter sequence
   Search SABiosciences Chromatin IP Primers for C12orf65

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C12orf65


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

Entrez Gene cytogenetic band: 12q24.31   Ensembl cytogenetic band:  12q24.31   HGNC cytogenetic band: 12q24.31

C12orf65 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C12orf65 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P123717:  view genomic region     (about GC identifiers)

Start:
123,717,463 bp from pter      End:
123,742,506 bp from pter
Size:
25,044 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CL065_HUMAN, Q9H3J6 (See protein sequence)
Recommended Name: Probable peptide chain release factor C12orf65, mitochondrial precursor  
Size: 166 amino acids; 18828 Da
Subcellular location: Mitochondrion
Caution: In contrast to other members of the family, lacks the regions that come into close contact with the mRNA
in the ribosomal A-site and determine the STOP codon specificity, suggesting a loss of codon specificity for
translation release factor activity
Secondary accessions: Q8WUC6
Alternative splicing: 2 isoforms:  Q9H3J6-1   Q9H3J6-2   

Explore the universe of human proteins at neXtProt for C12orf65: NX_Q9H3J6

Explore proteomics data for C12orf65 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H3J6

  • C12orf65 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C12orf65 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001137377.1  NP_001181924.1  NP_689482.1  

    ENSEMBL proteins: 
     ENSP00000253233   ENSP00000443072   ENSP00000441796   ENSP00000444843   ENSP00000391513  
     ENSP00000390647  

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    Cloud-Clone Corp. Proteins for C12orf65 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion NAS--

    C12orf65 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR014720 dsRNA-bd-like_dom
     IPR000352 Pep_chain_release_fac_I_II

    Graphical View of Domain Structure for InterPro Entry Q9H3J6

    ProtoNet protein and cluster: Q9H3J6

    UniProtKB/Swiss-Prot: CL065_HUMAN, Q9H3J6
    Similarity: Belongs to the prokaryotic/mitochondrial release factor family


    C12orf65 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CL065_HUMAN, Q9H3J6
    Function: May act as a codon-independent translation release factor that has lost all stop codon specificity and
    directs the termination of translation in mitochondrion (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003747translation release factor activity IEA--
         
    C12orf65 for ontologies           About GeneDecksing


    Animal Models:
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C12orf65

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    4 Interacting proteins for C12orf65 (Q9H3J63 ENSP000002532334) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NFYCQ139523I2D: score=2 
    CDK2ENSP000002669704STRING: ENSP00000266970
    LSM3ENSP000003021604STRING: ENSP00000302160
    TACO1ENSP000002589754STRING: ENSP00000258975
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006415translational termination ----
    GO:0008219cell death IEA--

    C12orf65 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 C12orf65 (CL065)

    Search CenterWatch for drugs/clinical trials and news about C12orf65 / CL065

    (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,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for C12orf65 gene (3 alternative transcripts): 
    NM_001143905.2  NM_001194995.1  NM_152269.4  

    Unigene Cluster for C12orf65:

    Chromosome 12 open reading frame 65
    Hs.319128  [show with all ESTs]
    Unigene Representative Sequence: AK095982
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000253233(uc001uen.3 uc001ueo.3) ENST00000538888 ENST00000425637
    ENST00000536130 ENST00000546132 ENST00000543139 ENST00000429587 ENST00000366329(uc021rft.1 uc010tan.2)

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    Additional mRNA sequence: 

    AF061733.1 AK025908.1 AK095982.1 BC018145.1 BC062329.1 

    15 DOTS entries:

    DT.409940  DT.95163677  DT.121109031  DT.121108966  DT.91723902  DT.100024585  DT.100813359  DT.91965695 
    DT.100813360  DT.121108962  DT.91723890  DT.92452167  DT.95163678  DT.121108973  DT.91695275 

    24/151 AceView cDNA sequences (see all 151):

    CR612064 AI686673 AI278155 BU155948 AW007238 AI745266 AI262986 BM564488 
    AI097203 AW613587 AI991987 AA693948 AA868983 AW630171 BQ188813 BF592978 
    BP870576 AI656830 BF109377 BE220427 AI621052 AI697566 N89836 AA885625 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for C12orf65    About this scheme

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


    ECgene alternative splicing isoforms for C12orf65

    (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

    C12orf65 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTACTGCATA
    C12orf65 Expression
    About this image


    See C12orf65 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C12orf65

    SOURCE GeneReport for Unigene cluster: Hs.319128
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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 animals and fungi.

    Orthologs for C12orf65 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 2810006K23Rik1 , 5 RIKEN cDNA 2810006K23 gene1, 5 77.64(n)1
    78.05(a)1
      5 (63.52 cM)5
    726501  NM_001134717.11  NP_001128189.11 
     1243280895 
    chicken
    (Gallus gallus)
    Aves C15H12orf651 chromosome 15 open reading frame, human C12orf65 65.43(n)
    64.44(a)
      416827  NM_001252088.1  NP_001239017.1 
    lizard
    (Anolis carolinensis)
    Reptilia C12ORF656
    Uncharacterized protein
    51(a)
    1 ↔ 1
    LGb(1872621-1877443)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1000044521 uncharacterized LOC100004452 64.19(n)
    60.33(a)
      100004452  XM_001340005.3  XP_001340041.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG301001 CG30100 48.41(n)
    46.96(a)
      246457  NM_166161.2  NP_725560.1 
    worm
    (Caenorhabditis elegans)
    Secernentea T23B5.46
    Protein T23B5.4, isoform b
    24(a)
    1 ↔ 1
    IV(12675205-12675966)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes (YLR281C)4 Putative protein of unknown function; green fluorescent more   --   12(704960-704493) 850987  NP_013383.1 


    ENSEMBL Gene Tree for C12orf65 (if available)
    TreeFam Gene Tree for C12orf65 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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) 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

    10/565 SNPs in C12orf65 are shown (see all 565)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1462392221,2
    C--120678559(+) AGGGA-/GCCGCGC 3 -- us2k10--------
    rs347867651,2
    C--120683317(+) TTTTTT/-GAGAC 3 -- int11Minor allele frequency- -:0.00CSA 2
    rs803476901,2
    C--120684826(+) TGTTTTTTT/-  
            
    GTTTT
    3 -- int11Minor allele frequency- -:0.00CSA 2
    rs1120601981,2
    C--120686566(+) TTTTGT/-TTTTG 3 -- int11Minor allele frequency- -:0.50CSA 2
    rs3677985381,2
    C--120686566(+) TTTGT-/TTTG  
            
    TTTTG
    3 -- int10--------
    rs787889841,2
    C--120691926(+) AGTGC-/AAATGG 3 -- int11Minor allele frequency- A:0.00CSA 2
    rs1508293831,2
    C--120694377(+) ACACA-/AGGCACT 3 -- int10--------
    rs58015101,2
    C,F--120697837(+) GTCTCA/-AAAAA 3 -- int1 trp32Minor allele frequency- -:0.50NA CSA 4
    rs108464881,2
    C,A,H--120698839(+) TTTTTG/TGAGAC 3 -- int1 trp32Minor allele frequency- T:0.00NA 4
    rs128189861,2
    A--120698842(+) tttgaA/Gacact 3 -- int10--------

    HapMap Linkage Disequilibrium report for C12orf65 (123717463 - 123742506 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for C12orf65:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv28503CNV Loss19812545
    esv996114CNV Gain20482838


    Human Gene Mutation Database (HGMD): C12orf65
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for C12orf65

    (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.)
    About This Section
    OMIM gene information: 613541   
    OMIM disorders: 613559  
    UniProtKB/Swiss-Prot: CL065_HUMAN, Q9H3J6
  • Combined oxidative phosphorylation deficiency 7 (COXPD7) [MIM:613559]: A mitochondrial disease resulting
    in encephalomyopathy. Clinical manifestations include psychomotor delay and regression, ataxia, optic atrophy,
    nystagmus and muscle atrophy and weakness. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • 7 diseases for C12orf65:    About MalaCards
    autosomal recessive spastic paraplegia type 55    combined oxidative phosphorylation deficiency 7    optic atrophy    encephalomyopathy
    spasticity    ataxia    neuropathy

    1 disease from the University of Copenhagen DISEASES database for C12orf65:
    Optic atrophy

    C12orf65 for disorders           About GeneDecksing


    Export disorders for C12orf65 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 C12orf65 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with C12orf65)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in C12orf65 in patients with encephalomyopa thy and a mitochondrial translation defect. (PubMed id 20598281)1, 2, 3 Antonicka H....Shoubridge E.A. (2010)
    2. A homozygous mutation of C12orf65 causes spastic parap legia with optic atrophy and neuropathy (SPG55). (PubMed id 23188110)1, 3 Shimazaki H....Nakano I. (2012)
    3. Evolution and diversification of the organellar releas e factor family. (PubMed id 22688947)1, 3 Duarte I....Huynen M. (2012)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Solution structure and siRNA-mediated knockdown analys is of the mitochondrial disease-related protein C12orf65. (PubMed id 22821833)1 Kogure H....Nameki N. (2012)
    6. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)
    7. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    8. A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome. (PubMed id 20186120)2 Richter R....Chrzanowska-Lightowlers Z.M. (2010)
    9. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    10. 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. (2004)

    (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)
    About This Section
    Entrez Gene: 91574 HGNC: 26784 AceView: FLJ38663 Ensembl:ENSG00000130921 euGenes: HUgn91574
    ECgene: C12orf65 H-InvDB: C12orf65

    (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 C12orf65 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    Patent Information for C12orf65 gene:
    Search GeneIP for patents involving C12orf65

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