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FAM71B Gene

protein-coding   GIFtS: 39
GCID: GC05M156589

Family With Sequence Similarity 71, 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 71, Member B1 2
Protein FAM71B2

External Ids:    HGNC: 283971   Entrez Gene: 1537452   Ensembl: ENSG000001706137   UniProtKB: Q8TC563   

Export aliases for FAM71B gene to outside databases

Previous GC identifers: GC05M156522 GC05M151677


(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 FAM71B Gene:
FAM71B (family with sequence similarity 71, member B) is a protein-coding gene. An important paralog of this gene is FAM71E2.

UniProtKB/Swiss-Prot: FA71B_HUMAN, Q8TC56
Function: May be involved in RNA biogenesis




(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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Regulatory elements:
   Regulatory transcription factor binding sites in the FAM71B gene promoter:
         Nkx3-1   Nkx3-1 v4   STAT1   AML1a   GATA-3   IRF-1   FOXJ2 (long isoform)   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM71B promoter sequence
   Search Chromatin IP Primers for FAM71B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FAM71B


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

Entrez Gene cytogenetic band: 5q33.3   Ensembl cytogenetic band:  5q33.3   HGNC cytogenetic band: 5q33.3

FAM71B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM71B gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M156589:  view genomic region     (about GC identifiers)

Start:
156,588,857 bp from pter      End:
156,593,279 bp from pter
Size:
4,423 bases      Orientation:
minus 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: FA71B_HUMAN, Q8TC56 (See protein sequence)
Recommended Name: Protein FAM71B  
Size: 605 amino acids; 64756 Da
Subunit: Interacts with FRG1
Secondary accessions: Q1EDD9 Q8TC64 Q96LY8

Explore the universe of human proteins at neXtProt for FAM71B: NX_Q8TC56

Explore proteomics data for FAM71B at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FAM71B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_570969.2  
    ENSEMBL proteins: 
     ENSP00000305596  

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    antibodies-online kits for FAM71B (6 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:
     IPR022168 DUF3699

    Graphical View of Domain Structure for InterPro Entry Q8TC56

    ProtoNet protein and cluster: Q8TC56

    UniProtKB/Swiss-Prot: FA71B_HUMAN, Q8TC56
    Similarity: Belongs to the FAM71 family


    Find genes that share domains with FAM71B           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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FA71B_HUMAN, Q8TC56
    Function: May be involved in RNA biogenesis

    Animal Models:

       genOway: Develop your customized and physiologically relevant rodent model for FAM71B

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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 UniProtKB/Swiss-Prot
    FA71B_HUMAN, Q8TC56: Nucleus. Note=Cajal body and speckle localization
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm ----

    Find genes that share ontologies with FAM71B           About GenesLikeMe


    (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 FAM71B
    Interactions:

        Search GeneGlobe Interaction Network for FAM71B

    (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 FAM71B (FA71B)



    (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 FAM71B gene: 
    NM_130899.2  

    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000302938(uc003lwn.3)
    miRNA
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    Selected AceView cDNA sequences (see all 183):

    CR617029 BP370616 CR541696 AI423955 BQ223113 N41875 BQ632043 AA938620 
    AA731165 NM_004270 BG740750 BU902340 BM698562 T17245 CB243286 AA195720 
    AA693390 AK123613 AK057543 BI828956 AV713281 AI239626 BC006968 BQ631746 

    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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    FAM71B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACAGAGAGGT
    FAM71B Expression
    About this image

    FAM71B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FAM71B Protein Expression
        Custom PCR Arrays for FAM71B
    Primer
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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 FAM71B gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fam71b1 , 5 family with sequence similarity 71, member B1, 5 70.7(n)1
    60.28(a)1
      11 (27.83 cM)5
    4325521  NM_001013783.21  NP_001013805.11 
     463965595 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    49(a)
    45(a)
    many ↔ many
    many ↔ many
    6(71330920-71334054)
    6(71352843-71360031)


    ENSEMBL Gene Tree for FAM71B (if available)
    TreeFam Gene Tree for FAM71B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FAM71B gene
    FAM71E22  FAM71E12  FAM71D2  FAM71F22  FAM71C2  FAM71A2  ENSG000002677062  FAM71F12  
    2 SIMAP similar genes for FAM71B using alignment to 1 protein entry:     FA71B_HUMAN:
    FAM71C    FAM71A

    Find genes that share paralogs with FAM71B           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for FAM71B
    PGOHUM00000247879 PGOHUM00000236418


    (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 FAM71B (see all 235)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1499968801,2
    Cuntested1156590332(+) CTGCTC/TCCGCC 2 E G mis11Minor allele frequency- T:0.00NA 4550
    rs586995221,2
    C,F--156588987(+) GTATTG/TCTCCT 1 -- int12Minor allele frequency- T:0.08WA 120
    rs1460892151,2
    --156589159(+) AGTCTC/TGGGGA 1 -- int10--------
    rs312071,2
    C,F,A,H--156589188(-) TGTTCA/GGCTTT 1 -- int116Minor allele frequency- G:0.44MN NS EA NA WA CSA 949
    rs1397785181,2
    --156589241(+) ACTTGA/CCTGGA 1 -- int10--------
    rs354210051,2
    C,F--156589248(+) TGGAGG/ACTGGG 1 -- int13Minor allele frequency- A:0.50NA 6
    rs1123009401,2
    C--156589250(+) GAGGCC/TGGGGT 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs1446871611,2
    C--156589267(+) CTGTAA/GCATAG 1 -- int10--------
    rs22783851,2
    C,F,O,H--156589399(+) AGCTGG/TGATGG 1 -- ut31 ese329Minor allele frequency- T:0.17EA NA NS EU 4979
    rs1494027821,2
    C--156589466(+) AATGGA/GTTTGG 2 P S mis11Minor allele frequency- G:0.00NA 4550

    HapMap Linkage Disequilibrium report for FAM71B (156588857 - 156593279 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for FAM71B: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FAM71B
    DNA2.0 Custom Variant and Variant Library Synthesis for FAM71B

    (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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    1 disease from the University of Copenhagen DISEASES database for FAM71B:
    Facioscapulohumeral muscular dystrophy

    Find genes that share disorders with FAM71B           About GenesLikeMe

    Genetic Association Database (GAD): FAM71B

    Export disorders for FAM71B 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 FAM71B gene integrated from 10 sources:
    (articles sorted by number of sources associating them with FAM71B)
        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. (Nat. Genet. 2004)
    2. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    3. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
    4. FRG1P-mediated aggregation of proteins involved in pre-mRNA processing. (PubMed id 17103222)2 van Koningsbruggen S.... van der Maarel S.M. (Chromosoma 2007)
    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. (Genome Res. 2004)

    (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: 153745 HGNC: 28397 AceView: CRSP9andMGC26988 Ensembl:ENSG00000170613 euGenes: HUgn153745
    ECgene: FAM71B H-InvDB: FAM71B

    (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 FAM71B 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 FAM71B gene:
    Search GeneIP for patents involving FAM71B

    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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    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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