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

FAM83B Gene

protein-coding   GIFtS: 44
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)
About This Section

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

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.2  NT_007592.15  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for FAM83B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5T0W9

  • FAM83B Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FAM83B Protein Expression
    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)
    About This Section
    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


    FAM83B 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

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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for FAM83B 
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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 FAM83B

    (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 FAM83B (FA83B)

    Search CenterWatch for drugs/clinical trials and news about 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,
    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 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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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM83B
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    Primer
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      QIAGEN 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™, 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

    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


    See FAM83B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FAM83B

    SOURCE GeneReport for Unigene cluster: Hs.152423
        SABiosciences Custom PCR Arrays for FAM83B
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for FAM83B
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM83B
    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for FAM83B gene from 4/10 species (see all 10)    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 
     764907055 
    chicken
    (Gallus gallus)
    Aves FAM83B1 family with sequence similarity 83, member B 70.66(n)
    67.37(a)
      428645  XM_426203.3  XP_426203.2 
    lizard
    (Anolis carolinensis)
    Reptilia FAM83B6
    Uncharacterized protein
    61(a)
    1 ↔ 1
    GL343342.1(408151-427706)
    zebrafish
    (Danio rerio)
    Actinopterygii fam83b1 family with sequence similarity 83, member B 51.44(n)
    42.61(a)
      568458  XM_691788.3  XP_696880.3 


    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)
    About This Section
    Paralogs for FAM83B gene
    FAM83H2  FAM83C2  FAM83G2  FAM83E2  FAM83A2  FAM83D2  FAM83F2  

    FAM83B 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

    10/2058 SNPs in FAM83B are shown (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

    SABiosciences Cancer Mutation PCR Assays
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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

    FAM83B for disorders           About MalaCards

    FAM83B for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for FAM83B gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with FAM83B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Interlaboratory reproducibility of large-scale human p rotein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (2013)
    4. FAM83B mediates EGFR- and RAS-driven oncogenic transfo rmation. (PubMed id 22886302)1 Cipriano R....Jackson M.W. (2012)
    5. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    6. Systematic analysis of human protein complexes identi fies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R....Peters J.M. (2010)
    7. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    8. Chromosome 6p22 locus associated with clinically aggressive neuroblastoma. (PubMed id 18463370)4 Maris J.M....Hakonarson H. (2008)
    9. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    10. 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: 222584 HGNC: 21357 AceView: C6orf143.1 Ensembl:ENSG00000168143 euGenes: HUgn222584
    ECgene: FAM83B H-InvDB: FAM83B

    (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 FAM83B 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 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, 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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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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