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

C8orf48 Gene

protein-coding   GIFtS: 40
GCID: GC08P013469

chromosome 8 open reading frame 48
  Search for C8orf48
in
MalaCards
our new
 Human Malady Compendium 
Biological research products
for C8orf48    

Aliases
for C8orf48 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 481 2
FLJ254021
Uncharacterized Protein C8orf482

External Ids:    HGNC: 263451   Entrez Gene: 1577732   Ensembl: ENSG000001647437   UniProtKB: Q96LL43   

Export aliases for C8orf48 gene to outside databases

Previous GC identifer: GC08P011966


Summaries
for C8orf48 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 C8orf48 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  NC_018919.1  NT_167187.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C8orf48 gene promoter:
         C/EBPbeta   USF1   Tal-1   AML1a   Cdc5   RORalpha2   AREB6   USF-1   Sox9   Chx10   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C8orf48

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C8orf48


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

Entrez Gene cytogenetic band: 8p22   Ensembl cytogenetic band:  8p22   HGNC cytogenetic band: 8p22

C8orf48 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C8orf48 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P013469:  view genomic region     (about GC identifiers)

Start:
 13,424,352 bp from pter      End:
 13,425,797 bp from pter
Size:
 1,446 bases      Orientation:
 plus strand

Proteins
for C8orf48 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: CH048_HUMAN, Q96LL4 (See protein sequence)
Recommended Name: Uncharacterized protein C8orf48  
Size: 319 amino acids; 36790 Da
Sequence caution: Sequence=BAB71692.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q96LJ9

Explore the universe of human proteins at neXtProt for C8orf48: NX_Q96LL4

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96LL4

    • C8orf48 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001007091.1  
    ENSEMBL proteins: 
     ENSP00000297324  

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    Protein Domains /
    Families
    for C8orf48 gene

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

    ProtoNet protein and cluster: Q96LL4


    Function
    for C8orf48 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    miRNA
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19060904


    C8orf48 for ontologies           About GeneDecksing



    Pathways & Interactions
    for C8orf48 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 C8orf48

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for C8orf48 (Q96LL41, 2, 3 ENSP000002973244) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CCDC85BQ158342, 3, ENSP000003116954MINT-68266 I2D: score=4 STRING: ENSP00000311695
    MDFIQ997501, 2, 3, ENSP000002303214EBI-751596,EBI-724076 MINT-68178 I2D: score=4 STRING: ENSP00000230321
    About this table

    Drugs & Compounds
    for C8orf48 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 C8orf48
    Search CenterWatch for drugs/clinical trials and news about C8orf48 / CH048 

    Transcripts
    for C8orf48 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,
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    About This Section
    REFSEQ mRNAs for C8orf48 gene: 
    NM_001007090.2  

    Unigene Cluster for C8orf48:

    Chromosome 8 open reading frame 48
    Hs.104941  [show with all ESTs]
    Unigene Representative Sequence: NM_001007090
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000297324(uc003wwp.3)

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    Inhib. RNA
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    Additional cDNA sequence: 

    AF394908.1 AK058131.1 AK058156.1 BC031245.1 

    2 DOTS entries:

    DT.101971458  DT.307297 

    22 AceView cDNA sequences:

    AK058156 CK128686 AA496024 BQ429960 BI459420 BC031245 CA428557 AA992956 
    CB306127 BQ575896 BU625852 BX095759 AK058131 CB113670 AI205913 AI150511 
    AA436936 BQ575707 AW337731 BP370159 W69991 BE567861 

    GeneLoc Exon Structure


    Expression
    for C8orf48 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

    C8orf48 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAGATAAATT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    C8orf48 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: 1 LifeMap Cell 
    NameCategory
    Posterior foregut-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See C8orf48 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C8orf48

    SOURCE GeneReport for Unigene cluster: Hs.104941
        SABiosciences Custom PCR Arrays for C8orf48
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    In Situ
    Assay Products:     
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    Orthologs
    for C8orf48 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
    This gene was present in the common ancestor of chordates.

    Orthologs for C8orf48 gene from 3/11 species (see all 11)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia AI4292141 , 5 expressed sequence AI4292141, 5 71.06(n)1
    57.88(a)1    		   8 (23.15 cM)5
    6210801  NM_001039220.31  NP_001034309.11 
     369935755 
    chicken
    (Gallus gallus)    		 Aves C8orf486
    		 Uncharacterized protein
    		 34(a)
    		 1 ↔ 1
    		 4(11648254-11652351)
    lizard
    (Anolis carolinensis)    		 Reptilia C8orf486
    		 --
    		 45(a)
    		 1 ↔ 1
    		 GL343376.1(844372-848916)


    ENSEMBL Gene Tree for C8orf48 (if available)
    TreeFam Gene Tree for C8orf48 (if available) 

    Paralogs
    for C8orf48 gene

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

    Genomic Variants
    for C8orf48 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

    2 NCBI SNPs in C8orf48 are shown     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 8 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs132814001,2
    		C,F,--13424387(+) CGACCT/CCCGCA 1 -- ut51 ese36Minor allele frequency- C:0.11NA WA EA 364
    rs712071651,2
    		C--13426098(-) CTTATTCTAG/- 
                TCATT     		1 -- int11Minor allele frequency- -:0.00NA 2

    HapMap Linkage Disequilibrium report for C8orf48 (13424352 - 13425797 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for C8orf48
         1 CNV: 31429

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    Disorders / Diseases
    for C8orf48 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 C8orf48 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 C8orf48 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C8orf48)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    2. An empirical framework for binary interactome mapping . (PubMed id 19060904)1 Venkatesan K....Vidal M. (2009)
    3. DNA sequence and analysis of human chromosome 8. (PubMed id 16421571)2 Nusbaum C....Lander E.S. (2006)
    4. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (2005)
    5. 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. (2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    7. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)
    8. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)

    External Searches for C8orf48 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 C8orf48 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 157773 HGNC: 26345 AceView: FLJ25402 Ensembl:ENSG00000164743 euGenes: HUgn157773
    ECgene: C8orf48 H-InvDB: C8orf48

    Other Databases showing C8orf48 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing C8orf48 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 C8orf48 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for C8orf48 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for C8orf48 gene:
    Search GeneIP for patents involving C8orf48

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



    Products
    for C8orf48 gene

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    About This Section

     
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    von Willebrand factor
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