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

C4orf47 Gene

protein-coding   GIFtS: 38
GCID: GC04P186350          (predicted)

chromosome 4 open reading frame 47
  Search for C4orf47
in
MalaCards
our new
 Human Malady Compendium 
Biological research products
for C4orf47    

Aliases
for C4orf47 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Chromosome 4 Open Reading Frame 471 2
LOC4410541
UPF0602 Protein C4orf472

External Ids:    HGNC: 343461   Entrez Gene: 4410542   Ensembl: ENSG000002051297   UniProtKB: A7E2U83   

Export aliases for C4orf47 gene to outside databases

Previous GC identifers: GC04P186587 GC04P182103


Summaries
for C4orf47 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 C4orf47 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_000004.11  NC_018915.1  NT_016354.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C4orf47 gene promoter:
         ISGF-3   STAT1   AML1a   HOXA5   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C4orf47

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C4orf47


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

Entrez Gene cytogenetic band: 4q35.1   Ensembl cytogenetic band:  4q35.1   HGNC cytogenetic band: 4q35.1

C4orf47 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C4orf47 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P186350:  view genomic region     (about GC identifiers)

Start:
 186,347,394 bp from pter      End:
 186,370,980 bp from pter
Size:
 23,587 bases      Orientation:
 plus strand

Proteins
for C4orf47 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: CD047_HUMAN, A7E2U8 (See protein sequence)
Recommended Name: UPF0602 protein C4orf47  
Size: 309 amino acids; 34376 Da
Secondary accessions: Q5BLP7

Explore the universe of human proteins at neXtProt for C4orf47: NX_A7E2U8

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_A7E2U8

    • C4orf47 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001107829.1  
    ENSEMBL proteins: 
     ENSP00000424545   ENSP00000422279   ENSP00000423127   ENSP00000421376   ENSP00000425418  
     ENSP00000368127  

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    Protein Domains /
    Families
    for C4orf47 gene

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

    ProtoNet protein and cluster: A7E2U8

    UniProtKB/Swiss-Prot: CD047_HUMAN, A7E2U8
    Similarity: Belongs to the UPF0602 family


    Function
    for C4orf47 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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    Pathways & Interactions
    for C4orf47 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 C4orf47

    Drugs & Compounds
    for C4orf47 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 C4orf47
    Search CenterWatch for drugs/clinical trials and news about C4orf47 / CD047 

    Transcripts
    for C4orf47 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,
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    About This Section
    REFSEQ mRNAs for C4orf47 gene: 
    NM_001114357.1  

    Unigene Cluster for C4orf47:

    Chromosome 4 open reading frame 47
    Hs.549398  [show with all ESTs]
    Unigene Representative Sequence: BG183597
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000501066 ENST00000511138 ENST00000511581 ENST00000512770 ENST00000508698(uc003ixs.2)
    ENST00000378850(uc003ixt.2)

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    Additional cDNA sequence: 

    AY947525.1 BC127739.1 BC141967.1 BC141968.1 BC150574.1 

    6 DOTS entries:

    DT.121224483  DT.40111889  DT.121224467  DT.40130728  DT.429566  DT.70105478 

    24/29 AceView cDNA sequences (see all 29):

    AI968897 AW293376 CR595267 AI858275 AW663982 AW592328 AI206147 AW002918 
    BG186230 AI243515 BG190476 BQ429300 BX381714 BG214312 BG201680 C17902 
    BG220495 CA335367 BG210493 BG219993 BG184108 BG187247 AW235254 AI150508 

    GeneLoc Exon Structure


    Expression
    for C4orf47 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

    C4orf47 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGGCTTAGGA

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

    C4orf47 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeOuter Nuclear LayerMature Rod CellsPhotoreceptors, Retina
    OvaryAntral FollicleSecondary OocyteFemale Gametocytes, Germ Cells
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    Posterior foregut-like cells (A scalable, suspensi...)

    See C4orf47 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C4orf47

    SOURCE GeneReport for Unigene cluster: Hs.549398

    UniProtKB/Swiss-Prot: CD047_HUMAN, A7E2U8
    Tissue specificity: Detected in testis and fetal liver

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    In Situ
    Assay Products:     
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    Orthologs
    for C4orf47 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 C4orf47 gene from 4/15 species (see all 15)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia 1700029J07Rik1 , 5 RIKEN cDNA 1700029J07 gene1, 5 81.2(n)1
    77.7(a)1    		   8 (25.94 cM)5
    694791  NM_001033148.31  NP_001028320.11 
     459536065 
    chicken
    (Gallus gallus)    		 Aves C4H4orf471 chromosome 4 open reading frame, human C4orf47 72.62(n)
    68.18(a)    		   422718  XM_420672.3  XP_420672.2 
    lizard
    (Anolis carolinensis)    		 Reptilia C4orf476
    		 --
    		 65(a)
    		 1 ↔ 1
    		 5(112830656-112853851)
    zebrafish
    (Danio rerio)    		 Actinopterygii zgc:1531461 zgc:153146 62.3(n)
    55.41(a)    		   751702  NM_001045414.1  NP_001038879.1 


    ENSEMBL Gene Tree for C4orf47 (if available)
    TreeFam Gene Tree for C4orf47 (if available) 

    Paralogs
    for C4orf47 gene

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

    Genomic Variants
    for C4orf47 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

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for C4orf47
         1 CNV: 3530
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for C4orf47

    Disorders / Diseases
    for C4orf47 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
    C4orf47 for disorders           About MalaCards

    C4orf47 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: C4orf47 (1 document)

    Export disorders for C4orf47 gene to outside databases

    Publications
    for C4orf47 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 C4orf47 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C4orf47)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Comparative gene finding in chicken indicates that we are closing in on the set of multi-exonic widely expressed human genes. (PubMed id 15809229)1, 2 Castelo R.... Eyras E. (2005)
    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. (2004)
    3. 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)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)

    External Searches for C4orf47 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 C4orf47 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 441054 HGNC: 34346 AceView: LOC441054 Ensembl:ENSG00000205129 euGenes: HUgn441054
    ECgene: C4orf47 H-InvDB: C4orf47

    Other Databases showing C4orf47 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing C4orf47 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 C4orf47 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for C4orf47 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for C4orf47 gene:
    Search GeneIP for patents involving C4orf47

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



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    About This Section

     
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    von Willebrand factor
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