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

C8orf49 Gene

protein-coding   GIFtS: 30
GCID: GC08P011618

chromosome 8 open reading frame 49
  Search for C8orf49
in
MalaCards
our new
 Human Malady Compendium 
Biological research products
for C8orf49    

Aliases
for C8orf49 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Chromosome 8 Open Reading Frame 491 2
FLJ309721

External Ids:    HGNC: 322001   Entrez Gene: 6065532   Ensembl: ENSG000002553947   UniProtKB: Q96NF63   

Export aliases for C8orf49 gene to outside databases

Previous GC identifers: GC08U900584 GC08P011658


Summaries
for C8orf49 gene

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

Genomic Views
for C8orf49 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NT_077531.4  NC_018919.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C8orf49 gene promoter:
         HFH-3   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   CUTL1   POU3F2   E47   C/EBPalpha   FOXI1   IRF-2   Sox9   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C8orf49

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C8orf49


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

Entrez Gene cytogenetic band: 8p23.1   Ensembl cytogenetic band:  8p23.1   HGNC cytogenetic band: 8p23.1

C8orf49 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C8orf49 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P011618:  view genomic region     (about GC identifiers)

Start:
 11,618,765 bp from pter      End:
 11,621,462 bp from pter
Size:
 2,698 bases      Orientation:
 plus strand

Proteins
for C8orf49 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: CH049_HUMAN, Q96NF6 (See protein sequence)
Recommended Name: Putative uncharacterized protein C8orf49  
Size: 230 amino acids; 25558 Da
Subcellular location: Membrane; Single-pass membrane protein (Potential)

Explore the universe of human proteins at neXtProt for C8orf49: NX_Q96NF6

C8orf49 Protein expression data from MOPED and PaxDb: --

ENSEMBL proteins: 
 ENSP00000436777  

Human Recombinant Protein Products for C8orf49: 
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Uscn Proteins for C8orf49

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

GO IDQualified GO termEvidencePubMed IDs
GO:0016021integral to membrane IEA--

C8orf49 for ontologies           About GeneDecksing



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Protein Domains /
Families
for C8orf49 gene

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ProtoNet protein and cluster: Q96NF6


Function
for C8orf49 gene

(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section
Phenotypes:
     2 GenomeRNAi human phenotypes for C8orf49:
 Cell division defect  Decreased cell number, increas 

Animal Models:
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miRNA
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In Situ Assay
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Pathways & Interactions
for C8orf49 gene

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C8orf49

Drugs & Compounds
for C8orf49 gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 C8orf49
Search CenterWatch for drugs/clinical trials and news about C8orf49 / CH049 

Transcripts
for C8orf49 gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section
REFSEQ mRNAs for C8orf49 gene: 
NM_001031839.1  

Unigene Cluster for C8orf49:

Chromosome 8 open reading frame 49
Hs.545529
Unigene Representative Sequence: AK055534
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000525043(uc003wud.1)

miRNA
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Inhib. RNA
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Clone
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Primer
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Additional cDNA sequence: 

AK055534.1 BC132945.1 BC136882.1 XR_110589.1 XR_113107.1 XR_171708.1 

1 DOTS entry:

DT.95131141 

GeneLoc Exon Structure


Expression
for C8orf49 gene

(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

C8orf49 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
C8orf49 Expression
About this image

C8orf49 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

Stem Cell Differentiation: 2 LifeMap Cells 
NameCategory
DKK1-induced cells (Derivation of cardio...)
Mesoderm-like cells (Derivation of cardio...)
Expression: Positive    Negative     Selective marker
Experimental details: Curated     Microarrays     In-situ hybridization

Genevestigator expression for C8orf49

SOURCE GeneReport for Unigene cluster: Hs.545529
    SABiosciences Custom PCR Arrays for C8orf49
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In Situ
Assay Products: 
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Orthologs
for C8orf49 gene

(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
   --

ENSEMBL Gene Tree for C8orf49 (if available)
TreeFam Gene Tree for C8orf49 (if available) 

Paralogs
for C8orf49 gene

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

Genomic Variants
for C8orf49 gene

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

10/67 NCBI SNPs in C8orf49 are shown (see all 67)     About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance		Chr 8 posSequence#AA
Chg		TypeMore#Allele
freq		PopTotal
sample		More
----------
rs1129296161,2
--10549039(+) ATCACC/TGCTCC 1 -- us2k11Minor allele frequency- T:0.50CSA 2
rs800866091,2
F--10549210(+) CAGGCT/AAAGGG 1 -- us2k11Minor allele frequency- A:0.03NA 120
rs760128091,2
--10549475(+) GCTGGG/ATATGG 1 -- us2k13Minor allele frequency- A:0.04CSA WA EA 240
rs776871181,2
C--10549901(+) AAGATG/CGAGAA 1 -- nc-transcript-variant1Minor allele frequency- C:0.50WA 2
rs562132031,2
--10550043(+) ATTGCA/TCTCCA 1 -- nc-transcript-variant0--------
rs764999351,2
F--10550238(+) TGGGTC/ATGGGT 1 -- nc-transcript-variant1Minor allele frequency- A:0.03EA 120
rs736630031,2
C--10550296(+) TATTCT/GTCAGT 1 -- nc-transcript-variant2Minor allele frequency- G:0.18WA 120
rs736630041,2
C--10550301(+) TTCAGT/GTTGCA 1 -- nc-transcript-variant2Minor allele frequency- G:0.18WA 120
rs1119269191,2
--10550865(+) ACACAG/AAAAGG 1 -- nc-transcript-variant1Minor allele frequency- A:0.50CSA 2
rs178106961,2
C,F--10550924(+) TCGCAC/GTCACA 1 -- nc-transcript-variant4Minor allele frequency- G:0.06NA 262

HapMap Linkage Disequilibrium report for C8orf49 (11618765 - 11621462 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for C8orf49: --

SABiosciences Cancer Mutation PCR Assays
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Disorders / Diseases
for C8orf49 gene

(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.)
About This Section
   --

Publications
for C8orf49 gene

(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 C8orf49 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C8orf49)		    Utopia: connect your pdf to the dynamic
world of online information

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
  2. Genetic analysis of the promoter region of the GATA4 g ene in patients with ventricular septal defects. (PubMed id 22500510)1 Wu G....Yan B. (2012)
  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. (2002)

External Searches for C8orf49 gene

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Free Text  
  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

Genome Databases showing C8orf49 gene

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 606553 HGNC: 32200 Ensembl:ENSG00000255394 euGenes: HUgn606553 ECgene: C8orf49
H-InvDB: C8orf49

Other Databases showing C8orf49 gene

(According to HUGE)
About This Section
   --

Specialized Databases showing C8orf49 gene

(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 C8orf49 Pharmacogenomics, SNPs, Pathways

Intellectual Property
for C8orf49 gene

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for C8orf49 gene:
Search GeneIP for patents involving C8orf49

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



Products
for C8orf49 gene

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About This Section

 
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