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C7orf13 Gene

protein-coding   GIFtS: 32
GCID: GC07M156431

Chromosome 7 Open Reading Frame 13

  See related disease
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 7 Open Reading Frame 131 2
MY0402

External Ids:    HGNC: 171261   Entrez Gene: 1297902   Ensembl: ENSG000002442917   OMIM: 6102425   UniProtKB: Q8NI283   

Export aliases for C7orf13 gene to outside databases

Previous GC identifers: GC07M154661 GC07M155733 GC07M155848 GC07M155930 GC07M156124 GC07M150163 GC07M156266


(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 C7orf13 Gene:
C7orf13 (chromosome 7 open reading frame 13) is a protein-coding gene. Diseases associated with C7orf13 include polydactyly.


(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_000007.14  NC_018918.2  NT_007933.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the C7orf13 gene promoter:
         LHX3b/Lhx3b   Sox5   HTF   Pax-2   Nkx2-5   Pax-2a   POU6F1 (c2)   FOXO4   Sox9   LHX3a/Lhx3a   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C7orf13

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C7orf13


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

Entrez Gene cytogenetic band: 7q36.3   Ensembl cytogenetic band:  7q36.3   HGNC cytogenetic band: 7q36.3

C7orf13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C7orf13 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M156431:  view genomic region     (about GC identifiers)

Start:
156,431,057 bp from pter      End:
156,433,348 bp from pter
Size:
2,292 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 155,660,444-155,662,732     

(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: CG013_HUMAN, Q8NI28 (See protein sequence)
Recommended Name: Uncharacterized protein C7orf13  
Size: 216 amino acids; 22304 Da

Explore the universe of human proteins at neXtProt for C7orf13: NX_Q8NI28

Explore proteomics data for C7orf13 at MOPED


See C7orf13 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


ENSEMBL proteins: 
 ENSP00000331784  

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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: Q8NI28


(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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Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C7orf13
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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
CG013_HUMAN, Q8NI28: Membrane; Single-pass membrane protein (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
plasma membrane3
cytosol1
mitochondrion1

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

GO IDQualified GO termEvidencePubMed IDs
GO:0016021integral component of membrane IEA--

C7orf13 for ontologies           About GeneDecksing


(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 C7orf13
Interactions:

    Search GeneGlobe Interaction Network for C7orf13

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

Selected Interacting proteins for C7orf13 (Q8NI282 ENSP000003317844) via UniProtKB, MINT, STRING, and/or I2D (see all 553)
InteractantInteraction Details
GeneCardExternal ID(s)
CDC5LQ994592, ENSP000003605324MINT-7947479 STRING: ENSP00000360532
ABCF1Q8NE712MINT-7947479
ABCF3Q9NUQ82MINT-7947479
ACTBP607092MINT-7947479
ACTL6AO960192MINT-7947479
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(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 C7orf13 (CG013)



(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 C7orf13 gene: 
NM_032625.1  

Unigene Cluster for C7orf13:

Chromosome 7 open reading frame 13
Hs.647014  [show with all ESTs]
Unigene Representative Sequence: NR_026865
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000333319(uc003wmm.3)
miRNA
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Additional mRNA sequence: 

AF063598.1 AF439977.1 AK056371.1 BC031037.1 BC050364.1 BC058889.1 BC070228.1 NR_026865.1 

3 DOTS entries:

DT.99976197  DT.95159339  DT.99933697 

Selected AceView cDNA sequences (see all 54):

BE350805 AI468759 AK056371 AF439977 AA826489 BM127075 AI168080 BX115093 
BM918352 BC058889 AI971242 BC050364 CR592417 AA868311 BX103419 AV729563 
AW274383 BC031037 AA912620 BM918370 AW274467 AL516469 CB529970 AW291727 

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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C7orf13 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TTTTCTATTC
C7orf13 Expression
About this image

C7orf13 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C7orf13 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.647014

UniProtKB/Swiss-Prot: CG013_HUMAN, Q8NI28
Tissue specificity: Expressed only in testis

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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C7orf13

(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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  --

ENSEMBL Gene Tree for C7orf13 (if available)
TreeFam Gene Tree for C7orf13 (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 C7orf13 (see all 12)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 7 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1859085891,2
--156430629(+) ATAATA/GTTAAA 1 -- int10--------
rs3734046261,2
C--156430645(+) AATCAC/TGATAA 1 -- int10--------
rs793785511,2
C,F--156430717(+) GCATTC/TTGATC 1 -- int11Minor allele frequency- T:0.02NA 120
rs1176458721,2
C,F--156430820(+) AAAGCA/CATAAG 1 -- int11Minor allele frequency- C:0.01NA 120
rs1918246551,2
--156430845(+) CAAGCC/TTATAC 1 -- int10--------
rs1814308601,2
--156430934(+) AAGGGA/GATGGA 1 -- int10--------
rs132318481,2
C,F--156430983(+) AATTAT/CCACGT 1 -- int18Minor allele frequency- C:0.25NA WA CSA EA 368
rs96380481,2
C,A,H--156431052(+) ATTCAA/CAATAT 1 -- int17Minor allele frequency- C:0.29WA NA CSA EA 365
rs1864401161,2
--156431287(+) AGCCAC/TAAGGC 1 -- nc-transcript-variant0--------
rs1908832561,2
--156431336(+) TTGCAA/CGTAAC 1 -- nc-transcript-variant0--------

HapMap Linkage Disequilibrium report for C7orf13 (156431057 - 156433348 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for C7orf13:    About this table    
Variant IDTypeSubtypePubMed ID
nsv831198CNV Loss17160897

Site Specific Mutation Identification with PCR Assays
Search QIAGEN SeqTarget long-range PCR primers for resequencing C7orf13
DNA2.0 Custom Variant and Variant Library Synthesis for C7orf13

(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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OMIM gene information: 610242    OMIM disorders: --

1 disease for C7orf13:    About MalaCards
polydactyly


C7orf13 for disorders           About GeneDecksing


Export disorders for C7orf13 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)
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PubMed articles for C7orf13 gene integrated from 10 sources:
(articles sorted by number of sources associating them with C7orf13)
    Utopia: connect your pdf to the dynamic
world of online information

  1. A double RING-H2 domain in RNF32, a gene expressed during sperm formation. (PubMed id 11890671)1, 2, 3 van Baren M.J.... Heutink P. (Biochem. Biophys. Res. Commun. 2002)
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)
  3. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1 Scherer S.W.... Tsui L.-C. (Science 2003)
  4. 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: 129790 HGNC: 17126 AceView: C7orf13 Ensembl:ENSG00000244291 euGenes: HUgn129790
ECgene: C7orf13 H-InvDB: C7orf13

(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 C7orf13 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 C7orf13 gene:
Search GeneIP for patents involving C7orf13

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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