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

FAM47A Gene

protein-coding   GIFtS: 40
GCID: GC0XM034057

Family With Sequence Similarity 47, Member A

  Search for FAM47A
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Family With Sequence Similarity 47, Member A1 2
Similar To Hypothetical Protein FLJ357821
Protein FAM47A2

External Ids:    HGNC: 299621   Entrez Gene: 1587242   Ensembl: ENSG000001854487   UniProtKB: Q5JRC93   

Export aliases for FAM47A gene to outside databases

Previous GC identifers: GC0XM033907 GC0XM031885


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

GeneCards Summary for FAM47A Gene: 
FAM47A (family with sequence similarity 47, member A) is a protein-coding gene. An important paralog of this gene is FAM47C.


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NT_167197.1  NC_018934.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FAM47A gene promoter:
         POU2F2 (Oct-2.1)   HFH-3   NF-AT   FOXI1   POU2F2C   NF-AT4   NF-AT2   NF-AT3   POU2F2B   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM47A promoter sequence
   Search SABiosciences Chromatin IP Primers for FAM47A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM47A


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

Entrez Gene cytogenetic band: Xp21.1   Ensembl cytogenetic band:  Xp21.1   HGNC cytogenetic band: Xp21.1

FAM47A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM47A gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM034057:  view genomic region     (about GC identifiers)

Start:
34,147,869 bp from pter      End:
34,150,447 bp from pter
Size:
2,579 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: FA47A_HUMAN, Q5JRC9 (See protein sequence)
Recommended Name: Protein FAM47A  
Size: 791 amino acids; 90592 Da
Secondary accessions: A8K8I9 Q8TAA0

Explore the universe of human proteins at neXtProt for FAM47A: NX_Q5JRC9

Explore proteomics data for FAM47A at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5JRC9

  • FAM47A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FAM47A Protein Expression
    REFSEQ proteins: NP_981953.2  
    ENSEMBL proteins: 
     ENSP00000345029  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR026083 FAM47

    Graphical View of Domain Structure for InterPro Entry Q5JRC9

    ProtoNet protein and cluster: Q5JRC9

    UniProtKB/Swiss-Prot: FA47A_HUMAN, Q5JRC9
    Similarity: Belongs to the FAM47 family


    FAM47A for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for FAM47A 
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FAM47A

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 FAM47A (FA47A)

    Search CenterWatch for drugs/clinical trials and news about FAM47A / FA47A

    (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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FAM47A gene: 
    NM_203408.3  

    Unigene Cluster for FAM47A:

    Family with sequence similarity 47, member A
    Hs.143268  [show with all ESTs]
    Unigene Representative Sequence: NM_203408
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000346193(uc004ddg.3)
    miRNA
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM47A

    Additional mRNA sequence: 

    AK292354.1 BC026171.2 

    2 DOTS entries:

    DT.92067633  DT.121285225 

    6 AceView cDNA sequences:

    BC026171 BE041525 AI141715 AA927584 BG721764 NM_203408 

    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™, 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

    FAM47A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTACCTCAAG
    FAM47A Expression
    About this image


    See FAM47A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FAM47A

    SOURCE GeneReport for Unigene cluster: Hs.143268
        SABiosciences Custom PCR Arrays for FAM47A
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM47A

    (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 FAM47A gene from 3/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fam47c1 , 5 family with sequence similarity 47, member A, pseudogene5
    family with sequence similarity 47, member C1
    62.04(n)1
    44.8(a)1
      X (38.35 cM)5
    708641  NM_001164739.11  NP_001158211.11 
     787377635 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    25(a)
    22(a)
    many ↔ many
    many ↔ many
    5(146835883-146858948)
    5(147048073-147073721)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1582606
    zgc:1582606
    zgc:158260
    20(a)
    20(a)
    many ↔ many
    many ↔ many
    5(56751666-56763258)
    5(56670876-56683246)


    ENSEMBL Gene Tree for FAM47A (if available)
    TreeFam Gene Tree for FAM47A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FAM47A gene
    FAM47C2  ENSG000002724142  FAM47E2  FAM47B2  
    2 SIMAP similar genes for FAM47A using alignment to 1 protein entry:     FA47A_HUMAN:
    FAM47B    FAM47C

    FAM47A for paralogs           About GeneDecksing



    (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) 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

    UniProtKB/Swiss-Prot: FA47A_HUMAN, Q5JRC9
    Polymorphism: The repeat encompassing Pro-495 to Glu-507 may be polymorphic


    10/166 SNPs in FAM47A are shown (see all 166)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs348446211,2
    C--31885393(+) GCACA-/TTTTTT 1 -- int11Minor allele frequency- T:0.00CSA 2
    rs29399981,2
    C,A--34061373(-) CTACCC/TGGGGG 1 -- int15Minor allele frequency- T:0.00WA NA CSA 7
    rs1824036471,2
    --34061436(+) ATAGAC/GACCAG 1 -- int10--------
    rs30061261,2
    C,F,A--34061449(+) TTCACC/TATGTT 1 -- int16Minor allele frequency- T:0.20NA WA CSA 10
    rs1889942241,2
    --34061614(+) ACAAAC/TAATTG 1 -- int10--------
    rs1931149081,2
    --34061753(+) TAGGTA/GTTGAA 1 -- ut310--------
    rs1997699551,2
    --34061829(+) AAATGA/CGAGCA 1 -- ut310--------
    rs2006317601,2
    C--34062054(+) GATCGC/TCAAGA 2 D G mis10--------
    rs2014400401,2
    C--34062198(+) AATTCA/GATGGC 2 S L mis10--------
    rs1851827641,2
    C--34062375(+) TGATGG/TATTCT 2 Y S mis10--------

    HapMap Linkage Disequilibrium report for FAM47A (34147869 - 34150447 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for FAM47A:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2752322CNV Gain17911159
    nsv820274CNV Gain19587683


    Locus Specific Mutation Databases (LSDB): FAM47A
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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.)
    About This Section
      --

    (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 FAM47A gene integrated from 9 sources:
    (articles sorted by number of sources associating them with FAM47A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (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. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    5. Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross- validation of MS/MS and MS/MS/MS spectra. (PubMed id 17924679)1 Yu L.-R.... Veenstra T.D. (2007)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 158724 HGNC: 29962 AceView: FAM47A Ensembl:ENSG00000185448 euGenes: HUgn158724
    ECgene: FAM47A H-InvDB: FAM47A

    (According to HUGE)
    About This Section
      --

    (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 FAM47A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for FAM47A gene:
    Search GeneIP for patents involving FAM47A

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for FAM47A
     Antibodies for FAM47A
     ELISAs for FAM47A
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     Search LifeMap BioReagents cell lines for FAM47A
     Gene Synthesis
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     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM47A
     Browse SwitchGear 3'UTR luciferase reporter plasmids for FAM47A
     SwitchGear Promoter luciferase reporter plasmids for FAM47A
     Search ThermoFisher Antibodies for FAM47A
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM47A
     inGenious Targeting Laboratory - Custom generated mouse model solutions for FAM47A
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for FAM47A
    Customized:
     lentivirus for stable overexpression of FAM47A
     lentivirus expression plasmids for stable overexpression of FAM47A
     adenovirus for overexpression of FAM47A
     LSBio Antibodies in human, mouse, rat for FAM47A
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
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