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FAM83B Gene

protein-coding   GIFtS: 47
GCID: GC06P054711

Family With Sequence Similarity 83, Member B

(Previous name: chromosome 6 open reading frame 143)
(Previous symbol: C6orf143)
  Search for FAM83B
at  

(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 83, Member B1 2
C6orf1431 2 3
Chromosome 6 Open Reading Frame 1431
Protein FAM83B2

External Ids:    HGNC: 213571   Entrez Gene: 2225842   Ensembl: ENSG000001681437   UniProtKB: Q5T0W93   

Export aliases for FAM83B gene to outside databases

Previous GC identifers: GC06P054820 GC06P054545


(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 FAM83B Gene:
FAM83B (family with sequence similarity 83, member B) is a protein-coding gene. An important paralog of this gene is FAM83H.


(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_000006.11  NT_007592.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FAM83B gene promoter:
         LHX3b/Lhx3b   RFX1   AML1a   IRF-1   Nkx2-5   STAT5A   IRF-2   FOXJ2 (long isoform)   Chx10   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM83B promoter sequence
   Search Chromatin IP Primers for FAM83B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FAM83B


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

Entrez Gene cytogenetic band: 6p12.1   Ensembl cytogenetic band:  6p12.1   HGNC cytogenetic band: 6p12.1

FAM83B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM83B gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P054711:  view genomic region     (about GC identifiers)

Start:
54,711,569 bp from pter      End:
54,806,820 bp from pter
Size:
95,252 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: FA83B_HUMAN, Q5T0W9 (See protein sequence)
Recommended Name: Protein FAM83B  
Size: 1011 amino acids; 114799 Da
Secondary accessions: Q2M1P3 Q96DQ2

Explore the universe of human proteins at neXtProt for FAM83B: NX_Q5T0W9

Explore proteomics data for FAM83B at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FAM83B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001010872.1  
    ENSEMBL proteins: 
     ENSP00000304078  

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    (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:
     IPR012461 DUF1669

    Graphical View of Domain Structure for InterPro Entry Q5T0W9

    ProtoNet protein and cluster: Q5T0W9

    1 Blocks protein domain: IPB012461 Protein of unknown function DUF1669

    UniProtKB/Swiss-Prot: FA83B_HUMAN, Q5T0W9
    Similarity: Belongs to the FAM83 family


    Find genes that share domains with FAM83B           About GenesLikeMe


    (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,
    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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    Phenotypes:
         3 GenomeRNAi human phenotypes for FAM83B:
     Increased G2M DNA content  Increased homologous recombina  S arrest 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FAM83B
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    hsa-mir-335-5p (MIRT018226)

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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
    cytosol2

    (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 FAM83B
    Interactions:

        Search GeneGlobe Interaction Network for FAM83B

    (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 FAM83B (FA83B)



    (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 FAM83B gene: 
    NM_001010872.2  

    Unigene Cluster for FAM83B:

    Family with sequence similarity 83, member B
    Hs.152423  [show with all ESTs]
    Unigene Representative Sequence: NM_001010872
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000306858(uc003pck.3)
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat FAM83B

    Additional mRNA sequence: 

    AK024927.1 AK055204.1 BC101628.1 BC112275.1 

    2 DOTS entries:

    DT.91729671  DT.40235978 

    2 AceView cDNA sequences:

    AW511345 BX476977 

    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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    FAM83B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCAAATACCA
    FAM83B Expression
    About this image


    FAM83B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Bone (Muscoskeletal System)
             Bone Marrow
    FAM83B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FAM83B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.152423
        Custom PCR Arrays for FAM83B
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM83B

    (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 FAM83B gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fam83b1 , 5 family with sequence similarity 83, member B1, 5 82.2(n)1
    81.5(a)1
      9 (42.67 cM)5
    2089941  NM_001045518.11  NP_001038983.11 
     764900545 
    chicken
    (Gallus gallus)
    Aves FAM83B1 family with sequence similarity 83, member B 70.76(n)
    67.37(a)
      428645  XM_426203.4  XP_426203.2 
    lizard
    (Anolis carolinensis)
    Reptilia FAM83B6
    family with sequence similarity 83, member B
    61(a)
    1 ↔ 1
    GL343342.1(408151-427706)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia fam83b1 family with sequence similarity 83, member B 62.13(n)
    56.44(a)
      100495584  XM_002934851.2  XP_002934897.1 
    zebrafish
    (Danio rerio)
    Actinopterygii fam83b1 family with sequence similarity 83, member B 51.1(n)
    42.84(a)
      568458  XM_005170779.1  XP_005170836.1 


    ENSEMBL Gene Tree for FAM83B (if available)
    TreeFam Gene Tree for FAM83B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FAM83B gene
    FAM83H2  FAM83C2  FAM83G2  FAM83E2  FAM83A2  FAM83D2  FAM83F2  

    Find genes that share paralogs with FAM83B           About GenesLikeMe



    (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 FAM83B (see all 2058)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1148421231,2
    C,F--54709574(+) AACCAT/CGTGAT 1 -- us2k11Minor allele frequency- C:0.06WA 118
    rs796000721,2
    C--54709610(+) TTTGCA/GTGGTT 1 -- us2k10--------
    rs729548181,2
    C--54709640(+) TTTACG/TCTGCT 1 -- us2k10--------
    rs47120751,2
    C,F,A,H--54709692(+) AGTTTG/TCTCAT 1 -- us2k131Minor allele frequency- T:0.41NA NS EA WA CSA 2916
    rs785073791,2
    C,F--54709759(+) ACCCAC/TCTTCT 1 -- us2k11Minor allele frequency- T:0.01NA 120
    rs47154851,2
    C,F,A,H--54709795(+) TTTATG/CTATTT 1 -- us2k1 tfbs331Minor allele frequency- C:0.35NA NS EA WA CSA 2499
    rs121940121,2
    C,F,A,H--54709851(+) TTAATG/AGATTC 1 -- us2k133Minor allele frequency- A:0.34NA NS EA WA CSA 2895
    rs1821837601,2
    --54709867(+) CTCCAC/TGTCTA 1 -- us2k10--------
    rs122075591,2
    C,F,A,H--54709868(+) TCCACG/TTCTAT 1 -- us2k129Minor allele frequency- T:0.42NA NS EA WA CSA 2886
    rs15031331,2
    C,F,O,A,H--54709911(+) CACTCT/GAGTAG 1 -- us2k128Minor allele frequency- G:0.34NA NS EA WA CSA 2467

    HapMap Linkage Disequilibrium report for FAM83B (54711569 - 54806820 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for FAM83B:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2732102CNV Deletion23290073
    esv2675172CNV Deletion23128226
    esv2732104CNV Deletion23290073
    esv2678553CNV Deletion23128226
    esv2732103CNV Deletion23290073
    esv271389CNV Insertion20981092
    esv269420CNV Insertion20981092
    nsv5308CNV Insertion18451855
    nsv885900CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FAM83B
    DNA2.0 Custom Variant and Variant Library Synthesis for FAM83B

    (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 FAM83B           About GenesLikeMe

    Genetic Association Database (GAD): FAM83B
    Human Genome Epidemiology (HuGE) Navigator: FAM83B (1 document)

    Export disorders for FAM83B 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 FAM83B gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with FAM83B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. FAM83B mediates EGFR- and RAS-driven oncogenic transformation. (PubMed id 22886302)1, 3 Cipriano R....Jackson M.W. (J. Clin. Invest. 2012)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Protein interaction network of the mammalian Hippo pathway reveals mechanisms of kinase-phosphatase interactions. (PubMed id 24255178)1 Couzens A.L....Gingras A.C. (Sci Signal 2013)
    5. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    6. FAM83B-mediated activation of PI3K/AKT and MAPK signaling cooperates to promote epithelial cell transformation and resistance to targeted therapies. (PubMed id 23676467)1 Cipriano R....Jackson M.W. (Oncotarget 2013)
    7. A whole genome screen for HIV restriction factors. (PubMed id 22082156)1 Liu L....McKnight A. (Retrovirology 2011)
    8. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    9. Systematic analysis of human protein complexes identifies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R.... Peters J.M. (Science 2010)
    10. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)

    (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: 222584 HGNC: 21357 AceView: C6orf143.1 Ensembl:ENSG00000168143 euGenes: HUgn222584
    ECgene: FAM83B H-InvDB: FAM83B

    (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 FAM83B 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 FAM83B gene:
    Search GeneIP for patents involving FAM83B

    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, LSBio, eBioscience, 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 inGenious Targeting Laboratory, genOway)
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     Block miRNA regulation of human, mouse, rat FAM83B using miScript Target Protectors SeqTarget long-range PCR primers for resequencing FAM83B
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     Custom PCR Arrays for FAM83B Search Chromatin IP Primers for FAM83B
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     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

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     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FAM83B
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     Search Addgene for plasmids for FAM83B
      Search eBioscience for proteins for FAM83B
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      eBioscience FlowRNA Probe Sets
           
    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

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