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C10orf120 Gene

protein-coding   GIFtS: 35
GCID: GC10M124447          (predicted)

Chromosome 10 Open Reading Frame 120

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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 10 Open Reading Frame 1201 2
bA318C4.12
Uncharacterized Protein C10orf1202

External Ids:    HGNC: 257071   Entrez Gene: 3998142   Ensembl: ENSG000001835597   UniProtKB: Q5SQS83   

Export aliases for C10orf120 gene to outside databases

Previous GC identifers: GC10M123998 GC10M118075


(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 C10orf120 Gene:
C10orf120 (chromosome 10 open reading frame 120) 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_000010.10  NC_018921.2  NT_030059.14  
Regulatory elements:
   Regulatory transcription factor binding sites in the C10orf120 gene promoter:
         AML1a   MEF-2   CUTL1   IRF-1   MEF-2A   AREB6   GATA-6   c-Myb   aMEF-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C10orf120

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C10orf120


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

Entrez Gene cytogenetic band: 10q26.13   Ensembl cytogenetic band:  10q26.13   HGNC cytogenetic band: 10q26.13

C10orf120 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C10orf120 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M124447:  view genomic region     (about GC identifiers)

Start:
124,457,225 bp from pter      End:
124,459,338 bp from pter
Size:
2,114 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: CJ120_HUMAN, Q5SQS8 (See protein sequence)
Recommended Name: Uncharacterized protein C10orf120  
Size: 335 amino acids; 39268 Da
Secondary accessions: B2RU17

Explore the universe of human proteins at neXtProt for C10orf120: NX_Q5SQS8

Explore proteomics data for C10orf120 at MOPED


See C10orf120 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001010912.1  
ENSEMBL proteins: 
 ENSP00000410278   ENSP00000331012  

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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: Q5SQS8


(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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Phenotypes:
     1 GenomeRNAi human phenotype for C10orf120:
 Increased S DNA content 

     2 MGI mutant phenotypes (inferred from 1 allele(MGI details for 4933402N03Rik):
 craniofacial  skeleton 

Find genes that share phenotypes with C10orf120           About GenesLikeMe

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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 COMPARTMENTS: 

CompartmentConfidence
nucleus3
cytosol2
plasma membrane1

(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 C10orf120
Interactions:

    Search GeneGlobe Interaction Network for C10orf120

(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 C10orf120 (CJ120)



(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 C10orf120 gene: 
NM_001010912.2  

Unigene Cluster for C10orf120:

Chromosome 10 open reading frame 120
Hs.363649  [show with all ESTs]
Unigene Representative Sequence: NM_001010912
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000432000 ENST00000329446(uc001lgn.3)
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Additional mRNA sequence: BC140922.1 

1 DOTS entry:

DT.97767719 

4 AceView cDNA sequences:

AL704711 BC065903 BQ432763 BQ438467 

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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C10orf120 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CGTAAAGCAA
C10orf120 Expression
About this image


C10orf120 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
 
 Testis (Reproductive System)
         Spermatid Seminiferous Tubules
 
 Gonad
         Spermatid Seminiferous Tubules
C10orf120 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C10orf120 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.363649
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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 C10orf120 gene from Selected species (see all 6)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia 4933402N03Rik1 , 5 RIKEN cDNA 4933402N03 gene1, 5 65.93(n)1
52.85(a)1
  7 (73.43 cM)5
2339181  NM_173409.41  NP_775585.11 
 1311377135 


ENSEMBL Gene Tree for C10orf120 (if available)
TreeFam Gene Tree for C10orf120 (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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Selected SNPs for C10orf120 (see all 185)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 10 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1921822991,2
--124456744(+) AGCCTC/GGGCTA 1 -- int10--------
rs30194971,2
C,F,H--124456767(-) CATTTT/GTCCTC 1 -- int125Minor allele frequency- G:0.20NS EA NA WA CSA 2355
rs1441484341,2
C--124456777(+) GTGGCC/TCAGTC 1 -- int10--------
rs1847276771,2
C--124456788(+) ACCCCC/TATGGA 1 -- int10--------
rs112483911,2
C,F,H--124456865(+) CATGAG/AGAACC 1 -- int111Minor allele frequency- A:0.09NS EA NA 980
rs30194961,2
C,A--124456952(-) AAAACA/GACAAT 1 -- int114Minor allele frequency- G:0.19NA WA CSA EA 378
rs1487028471,2
C--124457122(+) GAGGCA/CCTCCT 1 -- int10--------
rs1418399091,2
--124457133(+) GGAGAC/TTGGGC 1 -- int10--------
rs1462533521,2
C--124457197(+) GCTGAC/TGGGAA 1 -- int10--------
rs1894441191,2
C--124457198(+) CTGACA/GGGAAT 1 -- int10--------

HapMap Linkage Disequilibrium report for C10orf120 (124457225 - 124459338 bp)

Structural Variations
     Database of Genomic Variants (DGV) 4 variations for C10orf120:    About this table    
Variant IDTypeSubtypePubMed ID
nsv7584CNV Insertion18451855
esv270924CNV Insertion20981092
esv272894CNV Insertion20981092
nsv509370CNV Insertion20534489

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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 C10orf120 gene integrated from 10 sources:
(articles sorted by number of sources associating them with C10orf120)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (Nature 2004)
  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. 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)

(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: 399814 HGNC: 25707 AceView: C10orf120 Ensembl:ENSG00000183559 euGenes: HUgn399814
ECgene: C10orf120 H-InvDB: C10orf120

(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 C10orf120 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 C10orf120 gene:
Search GeneIP for patents involving C10orf120

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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