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C6orf120 Gene

protein-coding   GIFtS: 41
GCID: GC06P170102

Chromosome 6 Open Reading Frame 120

  Search for C6orf120
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 6 Open Reading Frame 1201 2
bA160E12.42
UPF0669 Protein C6orf1202

External Ids:    HGNC: 212471   Entrez Gene: 3872632   Ensembl: ENSG000001851277   UniProtKB: Q7Z4R83   

Export aliases for C6orf120 gene to outside databases

Previous GC identifers: GC00U913935 GC06U900682 GC06P169844 GC06P167522


(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 C6orf120 Gene:
C6orf120 (chromosome 6 open reading frame 120) is a protein-coding gene.

UniProtKB/Swiss-Prot: CF120_HUMAN, Q7Z4R8
Function: May be involved in induction of apoptosis in CD4(+) T-cells, but not CD8(+) T-cells or hepatocytes




(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_000006.11  NC_018917.2  NT_025741.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the C6orf120 gene promoter:
         Nkx3-1   Sox5   Nkx3-1 v4   p300   Nkx3-1 v1   HNF-1A   Nkx3-1 v2   POU2F1   POU2F1a   Nkx3-1 v3   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C6orf120

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C6orf120


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

Entrez Gene cytogenetic band: 6q27   Ensembl cytogenetic band:  6q27   HGNC cytogenetic band: 6q27

C6orf120 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C6orf120 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P170102:  view genomic region     (about GC identifiers)

Start:
170,102,233 bp from pter      End:
170,106,402 bp from pter
Size:
4,170 bases      Orientation:
plus 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: CF120_HUMAN, Q7Z4R8 (See protein sequence)
Recommended Name: UPF0669 protein C6orf120 precursor  
Size: 191 amino acids; 20772 Da
Secondary accessions: B4DHE9 E1P5C9

Explore the universe of human proteins at neXtProt for C6orf120: NX_Q7Z4R8

Explore proteomics data for C6orf120 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn53

  • See C6orf120 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001025034.1  
    ENSEMBL proteins: 
     ENSP00000390806   ENSP00000346931  

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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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    ProtoNet protein and cluster: Q7Z4R8

    UniProtKB/Swiss-Prot: CF120_HUMAN, Q7Z4R8
    Similarity: Belongs to the UPF0669 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, 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:

         UniProtKB/Swiss-Prot Summary: CF120_HUMAN, Q7Z4R8
    Function: May be involved in induction of apoptosis in CD4(+) T-cells, but not CD8(+) T-cells or hepatocytes

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    SwitchGear 3'UTR luciferase reporter plasmidC6orf120 3' UTR sequence
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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
    CF120_HUMAN, Q7Z4R8: Secreted. Note=Secreted by hepatocytes
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    mitochondrion2
    endoplasmic reticulum1
    lysosome1
    peroxisome1
    plasma membrane1

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

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

    Find genes that share ontologies with C6orf120           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 C6orf120
    Interactions:

        Search GeneGlobe Interaction Network for C6orf120

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process IEA--

    Find genes that share ontologies with C6orf120           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 C6orf120 (CF120)



    (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 C6orf120 gene: 
    NM_001029863.1  

    Unigene Cluster for C6orf120:

    Chromosome 6 open reading frame 120
    Hs.591375  [show with all ESTs]
    Unigene Representative Sequence: BC051700
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000439249(uc011egx.2) ENST00000332290(uc003qxb.3)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate C6orf120 (see all 55):
    hsa-miR-548j hsa-miR-2052 hsa-miR-429 hsa-miR-199a-3p hsa-miR-3651 hsa-miR-106a hsa-miR-513a-5p hsa-miR-128
    SwitchGear 3'UTR luciferase reporter plasmidC6orf120 3' UTR sequence
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    Additional mRNA sequence: 

    AF055030.1 AF451991.1 AK295061.1 BC051700.1 

    9 DOTS entries:

    DT.455377  DT.97847413  DT.91707560  DT.95275392  DT.95266906  DT.100815536  DT.91758075  DT.95177021 
    DT.100815537 

    GeneLoc Exon Structure


    (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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    C6orf120 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGCCTCAAT
    C6orf120 Expression
    About this image


    C6orf120 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Head Mesenchyme (Muscoskeletal System)
             Head Mesenchyme
     
     Lung (Respiratory System)
    C6orf120 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C6orf120 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591375

    UniProtKB/Swiss-Prot: CF120_HUMAN, Q7Z4R8
    Tissue specificity: Mainly expressed in hepatocytes and some weak expression in germinal center cells of lymph
    nodes

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    In Situ
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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 chordates.

    Orthologs for C6orf120 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 1600012H06Rik1 , 5 RIKEN cDNA 1600012H06 gene1, 5 77.17(n)1
    76.09(a)1
      17 (8.95 cM)5
    679121  NM_001083881.11  NP_001077350.11 
     149431845 
    chicken
    (Gallus gallus)
    Aves C3H6ORF1201 chromosome 3 open reading frame, human C6orf120 68.12(n)
    71.2(a)
      421557  NM_001031065.1  NP_001026236.1 
    lizard
    (Anolis carolinensis)
    Reptilia C6orf1206
    chromosome 6 open reading frame 120
    68(a)
    1 ↔ 1
    5(798066-798629)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia c6orf1201 chromosome 6 open reading frame 120 60.96(n)
    60.77(a)
      448344  NM_001004942.1  NP_001004942.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:779291 zgc:77929 63.17(n)
    59.12(a)
      402944  NM_205647.1  NP_991210.1 


    ENSEMBL Gene Tree for C6orf120 (if available)
    TreeFam Gene Tree for C6orf120 (if available)

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

    (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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    1 SNPs for C6orf120    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs718133421,2
    ----167526641(+) CACAC-/ACAC  
      ACACAC
    GTAGA
    1 -- int10--------

    HapMap Linkage Disequilibrium report for C6orf120 (170102233 - 170106402 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for C6orf120:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv830872CNV Loss17160897
    nsv887011CNV Loss21882294
    nsv887010CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C6orf120
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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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      --

    (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 C6orf120 gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with C6orf120)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Role of C6ORF120, an N-glycosylated protein, is implicated in apoptosis of CD4+ T lymphocytes. (PubMed id 22340178)1, 2, 3 Li X.... Wei H.S. (Chin. Med. J. 2011)
    2. Large-scale concatenation cDNA sequencing. (PubMed id 9110174)1, 3 Yu W.... Gibbs R.A. (Genome Res. 1997)
    3. A "double adaptor" method for improved shotgun library construction. (PubMed id 8619474)1, 3 Andersson B.... Gibbs R.A. (Anal. Biochem. 1996)
    4. A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci. (PubMed id 21980299)1 Bradfield J.P....Hakonarson H. (PLoS Genet. 2011)
    5. Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. (PubMed id 19159218)2 Chen R.... Zou H. (J. Proteome Res. 2009)
    6. 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)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)2 Mungall A.J.... Beck S. (Nature 2003)
    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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    10. Transcriptional analysis of the candidate region for incontinentia pigmenti (IP2) in Xq28. (PubMed id 8908511)1 Rogner U.C....Poustka A. (Genome Res. 1996)

    (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: 387263 HGNC: 21247 Ensembl:ENSG00000185127 euGenes: HUgn387263 ECgene: C6orf120
    H-InvDB: C6orf120

    (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 C6orf120 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 C6orf120 gene:
    Search GeneIP for patents involving C6orf120

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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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