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FAM47B Gene

protein-coding   GIFtS: 43
GCID: GC0XP034870

Family With Sequence Similarity 47, Member B

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(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
Family With Sequence Similarity 47, Member B1 2
Protein FAM47B2

External Ids:    HGNC: 266591   Entrez Gene: 1700622   Ensembl: ENSG000001891327   UniProtKB: Q8NA703   

Export aliases for FAM47B gene to outside databases

Previous GC identifers: GC0XP034720 GC0XP032702


(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 FAM47B Gene:
FAM47B (family with sequence similarity 47, member B) is a protein-coding gene. An important paralog of this gene is FAM47A.


(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 at NCBI GenBank:
NC_000023.10  NC_018934.2  NT_167197.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FAM47B gene promoter:
         Pax-6   GCNF-1   GCNF   GCNF-2   Evi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM47B promoter sequence
   Search Chromatin IP Primers for FAM47B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FAM47B


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

FAM47B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM47B gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP034870:  view genomic region     (about GC identifiers)

Start:
34,960,913 bp from pter      End:
34,963,034 bp from pter
Size:
2,122 bases      Orientation:
plus strand

(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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: FA47B_HUMAN, Q8NA70 (See protein sequence)
Recommended Name: Protein FAM47B  
Size: 645 amino acids; 73945 Da
Secondary accessions: Q5JQN5 Q6PIG3

Explore the universe of human proteins at neXtProt for FAM47B: NX_Q8NA70

Explore proteomics data for FAM47B at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FAM47B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_689844.2  
    ENSEMBL proteins: 
     ENSP00000328307  

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    antibodies-online proteins for FAM47B (2 products) 

     
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    antibodies-online kits for FAM47B (2 products) 


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

    Graphical View of Domain Structure for InterPro Entry Q8NA70

    ProtoNet protein and cluster: Q8NA70

    UniProtKB/Swiss-Prot: FA47B_HUMAN, Q8NA70
    Similarity: Belongs to the FAM47 family


    Find genes that share domains with FAM47B           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for FAM47B

    miRNA
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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 COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol1

    (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 FAM47B
    Interactions:

        Search GeneGlobe Interaction Network for FAM47B

    (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 FAM47B (FA47B)



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for FAM47B gene: 
    NM_152631.2  

    Unigene Cluster for FAM47B:

    Family with sequence similarity 47, member B
    Hs.197801  [show with all ESTs]
    Unigene Representative Sequence: BC035026
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000329357(uc004ddi.2)
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat FAM47B

    Additional mRNA sequence: 

    AK093101.1 BC035026.2 

    1 DOTS entry:

    DT.75187546 

    14 AceView cDNA sequences:

    BI829085 BC035026 AA724084 AL043092 BI463612 BG718412 AX747923 BI829035 
    AL043093 BE502569 BI561967 NM_152631 AI634437 AK093101 

    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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    FAM47B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    FAM47B Expression
    About this image

    FAM47B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FAM47B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.197801
        Custom PCR Arrays for FAM47B
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    In Situ
    Assay Products:
     

     
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    (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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    This gene was present in the common ancestor of chordates.

    Orthologs for FAM47B gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    24(a)
    21(a)
    many ↔ many
    many ↔ many
    5(146835883-146858948)
    5(147048073-147073721)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1582606
    zgc:1582606
    zgc:158260
    23(a)
    22(a)
    many ↔ many
    many ↔ many
    5(56670876-56683246) ENSDARG00000067694
    5(56751666-56763258) ENSDARG00000089020
            Species with no ortholog for FAM47B

    ENSEMBL Gene Tree for FAM47B (if available)
    TreeFam Gene Tree for FAM47B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FAM47B gene
    FAM47A2  FAM47C2  FAM47E2  
    1 SIMAP similar gene for FAM47B using alignment to 1 protein entry:     FA47B_HUMAN:
    FAM47A

    Find genes that share paralogs with FAM47B           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for FAM47B
    PGOHUM00000241236


    (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 FAM47B (see all 145)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1922728161,2
    --34872756(+) TTGGAA/GAGGAA 1 -- us2k10--------
    rs48293441,2
    C,F,A,H--34872796(+) TGTGTG/ATGTGT 1 -- us2k1 tfbs33Minor allele frequency- A:0.33WA NA CSA 6
    rs59732971,2
    C,A,H--34872806(+) TGTGTG/TTGTTT 1 -- us2k1 tfbs30--------
    rs1385519901,2
    --34872916(+) GCCTCC/TCTAGT 1 -- us2k10--------
    rs1834112021,2
    --34872920(+) CCCTAA/GTAGCT 1 -- us2k10--------
    rs1857824141,2
    --34873223(+) TCAATA/GTTTAT 1 -- us2k10--------
    rs1903907051,2
    --34873538(+) CTGGGC/TGAAAG 1 -- us2k10--------
    rs2019869901,2
    C--34873570(+) AAAAAA/CAAAAA 1 -- us2k10--------
    rs59273431,2
    F--34873575(+) caaaaC/Aaaaac 1 -- us2k12Minor allele frequency- A:0.50NA 4
    rs1116023501,2
    C--34873595(+) CAAAAC/AAAAAC 1 -- us2k11Minor allele frequency- A:0.50WA 2

    HapMap Linkage Disequilibrium report for FAM47B (34960913 - 34963034 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for FAM47B:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2664433CNV Deletion23128226
    nsv519107CNV Gain19592680
    nsv527976CNV Gain19592680

    Human Gene Mutation Database (HGMD): FAM47B
    Locus Specific Mutation Databases (LSDB): FAM47B

    Site Specific Mutation Identification with PCR Assays
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    (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.)
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    Find genes that share disorders with FAM47B           About GenesLikeMe

    Genetic Association Database (GAD): FAM47B

    Export disorders for FAM47B 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 FAM47B gene integrated from 10 sources:
    (articles sorted by number of sources associating them with FAM47B)
        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, 3 Ota T.... Sugano S. (Nat. Genet. 2004)
    2. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    3. 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. (Genome Res. 2004)
    4. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    5. Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study. (PubMed id 17903301)4 Vasan R.S....Benjamin E.J. (BMC Med. Genet. 2007)
    6. 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: 170062 HGNC: 26659 AceView: FAM47B Ensembl:ENSG00000189132 euGenes: HUgn170062
    ECgene: FAM47B H-InvDB: FAM47B

    (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 FAM47B 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 FAM47B gene:
    Search GeneIP for patents involving FAM47B

    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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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 genOway)
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     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM47B
     Browse SwitchGear 3'UTR luciferase reporter plasmids for FAM47B
     SwitchGear Promoter luciferase reporter plasmids for FAM47B
     ThermoFisher Antibodies for FAM47B
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM47B
     Browse compounds at ApexBio
     Search Addgene for plasmids for FAM47B
      Search eBioscience for proteins for FAM47B
      Search eBioscience for elisas for FAM47B
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for FAM47B
     antibodies-online antibodies for FAM47B (3 products)
     antibodies-online kits for FAM47B (2 products)
     antibodies-online peptides for FAM47B
     antibodies-online proteins for FAM47B (2 products)
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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