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

FAM71B Gene

protein-coding   GIFtS: 43
GCID: GC05M156589

Family With Sequence Similarity 71, Member B

  See related diseases
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 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for FAM71B Gene: 
FAM71B (family with sequence similarity 71, member B) is a protein-coding gene. Diseases associated with FAM71B include facioscapulohumeral muscular dystrophy, and muscular dystrophy. An important paralog of this gene is FAM71E1.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.2  NT_023133.13  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for FAM71B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: FA71B_HUMAN, Q8TC56 (See protein sequence)
Recommended Name: Protein FAM71B  
Size: 605 amino acids; 64756 Da
Subunit: Interacts with FRG1
Subcellular location: Nucleus. Note=Cajal body and speckle localization
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8TC56

  • FAM71B Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FAM71B Protein Expression
    REFSEQ proteins: NP_570969.2  
    ENSEMBL proteins: 
     ENSP00000305596  

    Human Recombinant Protein Products for FAM71B: 
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    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--

    FAM71B for ontologies           About GeneDecksing



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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:
     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


    FAM71B 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

    Molecular Function:

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

    Animal Models:

       inGenious Targeting Laboratory - Custom generated mouse model solutions for FAM71B 
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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 FAM71B

    (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 FAM71B (FA71B)

    Search CenterWatch for drugs/clinical trials and news about 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,
    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 FAM71B gene: 
    NM_130899.2  

    Unigene Cluster for FAM71B:

    Family with sequence similarity 71, member B
    Hs.666099  [show with all ESTs]
    Unigene Representative Sequence: BC022035
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000302938(uc003lwn.3)
    miRNA
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    Inhib. RNA
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    Sirion Biotech Customized lentivirus for stable overexpression of FAM71B 
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FAM71B
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM71B

    Additional mRNA sequence: 

    AF465821.1 AK057543.1 AY973323.1 BC022035.1 BC025397.1 BC025409.1 BC025998.1 

    2 DOTS entries:

    DT.97835076  DT.91749076 

    24/183 AceView cDNA sequences (see all 183):

    AA614666 AK123613 CB115014 CR541696 BU902340 BP370616 CK905893 BQ011916 
    AI767723 CB047306 BC006968 AV713281 AI423955 AI371458 BQ632043 BM667507 
    AA722901 AA459244 BM554329 BG740750 NM_004270 N41875 BI828953 AA938620 

    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

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


    FAM71B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             testis ; cells in seminiferus ducts   
             sperm   
     
     Brain (Nervous System)
             Cerebral Cortex

    See FAM71B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FAM71B

    SOURCE GeneReport for Unigene cluster: Hs.666099
        SABiosciences Custom PCR Arrays for FAM71B
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM71B

    (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 FAM71B gene from 2/8 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 68.1(n)1
    57.8(a)1
      11 (27.83 cM)5
    4325521  NM_001013783.11  NP_001013805.11 
     463965595 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    50(a)
    40(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)
    About This Section
    Paralogs for FAM71B gene
    FAM71E12  FAM71D2  ENSG000002677062  FAM71A2  FAM71E22  FAM71C2  FAM71F22  FAM71F12  
    2 SIMAP similar genes for FAM71B using alignment to 1 protein entry:     FA71B_HUMAN:
    FAM71C    FAM71A

    FAM71B for paralogs           About GeneDecksing


    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) 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

    10/235 SNPs in FAM71B are shown (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: --
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    2 diseases for FAM71B:    About MalaCards
    facioscapulohumeral muscular dystrophy    muscular dystrophy

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

    FAM71B for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for FAM71B gene integrated from 9 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. (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. (2002)
    3. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    4. FRG1P-mediated aggregation of proteins involved in pre-mRNA processing. (PubMed id 17103222)2 van Koningsbruggen S.... van der Maarel S.M. (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. (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: 153745 HGNC: 28397 AceView: CRSP9andMGC26988 Ensembl:ENSG00000170613 euGenes: HUgn153745
    ECgene: FAM71B H-InvDB: FAM71B

    (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 FAM71B 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 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, 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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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