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C6orf118 Gene

protein-coding   GIFtS: 39
GCID: GC06M165693

Chromosome 6 Open Reading Frame 118

  Search for C6orf118
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 1181 2
bA85G2.12
dJ416F21.22
DJ416F21.2 (Novel Protein)2
Uncharacterized Protein C6orf1182

External Ids:    HGNC: 212331   Entrez Gene: 1680902   Ensembl: ENSG000001125397   UniProtKB: Q5T5N43   

Export aliases for C6orf118 gene to outside databases

Previous GC identifers: GC06M165526 GC06M165602 GC06M165663 GC06M163154


(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 C6orf118 Gene:
C6orf118 (chromosome 6 open reading frame 118) 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:
NC_000006.12  NT_025741.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C6orf118 gene promoter:
         POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   Nkx2-5   POU3F2   FOXL1   HNF-1A   CREB   HNF-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C6orf118

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C6orf118


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

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

C6orf118 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C6orf118 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M165693:  view genomic region     (about GC identifiers)

Start:
165,693,153 bp from pter      End:
165,723,111 bp from pter
Size:
29,959 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CF118_HUMAN, Q5T5N4 (See protein sequence)
Recommended Name: Uncharacterized protein C6orf118  
Size: 469 amino acids; 53772 Da
Secondary accessions: Q8TC11

Explore the universe of human proteins at neXtProt for C6orf118: NX_Q5T5N4

Explore proteomics data for C6orf118 at MOPED


See C6orf118 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_659417.2  
ENSEMBL proteins: 
 ENSP00000230301   ENSP00000439288  

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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: Q5T5N4


(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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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     Gene Ontology (GO): 2 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003723RNA binding ----
GO:0004540ribonuclease activity ----
     
C6orf118 for ontologies           About GeneDecksing


Phenotypes:
     1 MGI phenotypic allele for 1700010I14Rik (no phenotypes)

C6orf118 for phenotypes           About GeneDecksing

Animal Models:
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miRNA
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hsa-mir-1 (MIRT023772)

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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
cytosol2
nucleus2
mitochondrion1
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 C6orf118
Interactions:

    Search GeneGlobe Interaction Network for C6orf118

(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 C6orf118 (CF118)



(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for C6orf118 gene: 
NM_144980.3  

Unigene Cluster for C6orf118:

Chromosome 6 open reading frame 118
Hs.144734  [show with all ESTs]
Unigene Representative Sequence: NM_144980
4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000494696 ENST00000230301(uc003qum.4) ENST00000491176 ENST00000543069(uc011egi.1)

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Additional mRNA sequence: 

AK302358.1 BC026278.1 

4 DOTS entries:

DT.205734  DT.86844051  DT.121376831  DT.121376832 

17 AceView cDNA sequences:

AI799083 BX104603 CB242288 AI807196 AI798754 BM968092 BI545688 AA417005 
BU678768 BC026278 AI192015 NM_144980 BG548434 AA417192 BG703279 AW572810 
AA993942 

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for C6orf118    About this scheme

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b
SP1:        -                                               -           -               
SP2:                                                                                    
SP3:                                                                                    


ECgene alternative splicing isoforms for C6orf118

(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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C6orf118 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: ATTAGTTTCT
C6orf118 Expression
About this image

C6orf118 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C6orf118 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.144734
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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 C6orf118 gene from Selected species (see all 9)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia 1700010I14Rik1 , 5 RIKEN cDNA 1700010I14 gene1, 5 68.39(n)1
59.62(a)1
  17 (5.53 cM)5
669311  NM_025851.31  NP_080127.21 
 89883335 
lizard
(Anolis carolinensis)
Reptilia C6orf1186
chromosome 6 open reading frame 118
35(a)
1 ↔ 1
GL343461.1(128311-154556)
tropical clawed frog
(Xenopus tropicalis)
Amphibia c6orf1181 chromosome 6 open reading frame 118 48.34(n)
32.59(a)
  779868  NM_001078946.1  NP_001072414.1 


ENSEMBL Gene Tree for C6orf118 (if available)
TreeFam Gene Tree for C6orf118 (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 C6orf118 (see all 798)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 6 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs19776121,2
C,A,H--165692704(-) ctgacT/Ctcaag 1 -- int14Minor allele frequency- C:0.14NA CSA 7
rs1429867361,2
C--165692762(+) AAAATA/GCAAAA 1 -- int10--------
rs1508331531,2
--165692768(+) CAAAAG/TTAGCT 1 -- int10--------
rs1812301161,2
C--165692789(+) GCACAC/TACCTG 1 -- int10--------
rs1396103111,2
--165692843(+) TGAACC/TGAGGA 1 -- int10--------
rs1139486981,2
C,F--165692877(+) ATCATA/GCCATT 1 -- int11Minor allele frequency- G:0.00CSA 1
rs1392611211,2
--165692888(+) GCACTC/TCAGCC 1 -- int10--------
rs1850077041,2
--165692965(+) CAAGCA/TTGCGT 1 -- int10--------
rs1882866321,2
--165692966(+) AAGCTA/TGCGTT 1 -- int10--------
rs1810308181,2
--165692967(+) AGCTTA/GCGTTT 1 -- int10--------

HapMap Linkage Disequilibrium report for C6orf118 (165693153 - 165723111 bp)

Structural Variations
     Database of Genomic Variants (DGV) 4 variations for C6orf118:    About this table    
Variant IDTypeSubtypePubMed ID
nsv5586CNV Loss18451855
nsv508438CNV Loss20534489
dgv7033n71CNV Gain21882294
nsv886928CNV Gain21882294

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(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.)
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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 C6orf118 gene integrated from 10 sources:
(articles sorted by number of sources associating them with C6orf118)
    Utopia: connect your pdf to the dynamic
world of online information

  1. 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)
  2. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
  3. Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. (PubMed id 22589738)1 Fox C.S....Borecki I.B. (PLoS Genet. 2012)
  4. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
  5. 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)
  6. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (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: 168090 HGNC: 21233 AceView: C6orf118 Ensembl:ENSG00000112539 euGenes: HUgn168090
ECgene: C6orf118 H-InvDB: C6orf118

(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 C6orf118 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 C6orf118 gene:
Search GeneIP for patents involving C6orf118

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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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