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FAM83E Gene

protein-coding   GIFtS: 44
GCID: GC19M049103

Family With Sequence Similarity 83, Member E

  See related disease
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 E1 2
Protein FAM83E2

External Ids:    HGNC: 259721   Entrez Gene: 548542   Ensembl: ENSG000001055237   UniProtKB: Q2M2I33   

Export aliases for FAM83E gene to outside databases

Previous GC identifers: GC19M053796 GC19M045482


(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 FAM83E Gene:
FAM83E (family with sequence similarity 83, member E) is a protein-coding gene. Diseases associated with FAM83E include bipolar disorder. 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:
NC_000019.10  NT_011109.17  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FAM83E gene promoter:
         CREB   USF1   p53   Egr-1   deltaCREB   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM83E promoter sequence
   Search Chromatin IP Primers for FAM83E

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FAM83E


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

Entrez Gene cytogenetic band: 19q13.33   Ensembl cytogenetic band:  19q13.33   HGNC cytogenetic band: 19q13.33

FAM83E Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM83E gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M049103:  view genomic region     (about GC identifiers)

Start:
49,103,857 bp from pter      End:
49,118,111 bp from pter
Size:
14,255 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: FA83E_HUMAN, Q2M2I3 (See protein sequence)
Recommended Name: Protein FAM83E  
Size: 478 amino acids; 51780 Da
Secondary accessions: Q9NXK1

Explore the universe of human proteins at neXtProt for FAM83E: NX_Q2M2I3

Explore proteomics data for FAM83E at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FAM83E Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060178.2  
    ENSEMBL proteins: 
     ENSP00000263266   ENSP00000470271  

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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 Q2M2I3

    ProtoNet protein and cluster: Q2M2I3

    1 Blocks protein domain: IPB012461 Protein of unknown function DUF1669

    UniProtKB/Swiss-Prot: FA83E_HUMAN, Q2M2I3
    Similarity: Belongs to the FAM83 family


    FAM83E 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Phenotypes:
         1 GenomeRNAi human phenotype for FAM83E:
     Increased cell number in G2M,  

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FAM83E
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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 FAM83E
    Interactions:

        Search GeneGlobe Interaction Network for FAM83E

    (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 FAM83E (FA83E)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for FAM83E gene: 
    NM_017708.3  

    Unigene Cluster for FAM83E:

    Family with sequence similarity 83, member E
    Hs.165803  [show with all ESTs]
    Unigene Representative Sequence: NM_017708
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000263266(uc002pjn.2) ENST00000593772 ENST00000595110 ENST00000599126

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    Additional mRNA sequence: 

    AK000207.1 BC111970.1 BC111972.1 

    3 DOTS entries:

    DT.40228143  DT.121412138  DT.95228272 

    20 AceView cDNA sequences:

    AI445760 CD722642 AW009582 AI818382 AK000207 NM_017708 CB145550 AI927246 
    BV186826 BF063233 BM785523 AI922728 AA355000 CB142685 CB144354 AW850282 
    BI046525 AA206179 AA206145 BF852003 

    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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    FAM83E expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCTTGCACT
    FAM83E Expression
    About this image

    FAM83E Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FAM83E Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.165803
        Custom PCR Arrays for FAM83E
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM83E

    (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 FAM83E gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fam83e1 , 5 family with sequence similarity 83, member E1, 5 76.06(n)1
    73.76(a)1
      7 (29.46 cM)5
    738131  NM_001033170.41  NP_001028342.21 
     457212125 
    lizard
    (Anolis carolinensis)
    Reptilia FAM83E6
    family with sequence similarity 83, member E
    49(a)
    1 ↔ 1
    GL343279.1(1479429-1503770)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia fam83e1 family with sequence similarity 83, member E 55.59(n)
    51.25(a)
      100496944  XM_002934989.2  XP_002935035.2 
    zebrafish
    (Danio rerio)
    Actinopterygii CR762484.36
    Uncharacterized protein
    22(a)
    1 ↔ 1
    11(41579896-41602788) ENSDARG00000089489


    ENSEMBL Gene Tree for FAM83E (if available)
    TreeFam Gene Tree for FAM83E (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FAM83E gene
    FAM83H2  FAM83C2  FAM83G2  FAM83A2  FAM83D2  FAM83B2  FAM83F2  
    3 SIMAP similar genes for FAM83E using alignment to 2 protein entries:     FA83E_HUMAN (see all proteins):
    FAM83H    FAM83F    FAM83G

    FAM83E 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), 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 FAM83E (see all 347)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1156561551,2
    C,F--49103364(+) TCCTTG/CCCTCA 1 -- ds50011Minor allele frequency- C:0.02WA 118
    rs4114821,2
    C,F,A,H--49103447(-) CCCGAG/ACTAGA 1 -- ds500118Minor allele frequency- A:0.21MN NS EA NA CSA 2114
    rs1465410701,2
    --49103464(+) CCCGGA/GCCCCT 1 -- ds50010--------
    rs3783331,2
    C,F,H--49103519(-) GCAGCG/AGATCC 1 -- ds500113Minor allele frequency- A:0.05MN EA NS NA WA CSA 1364
    rs1412680351,2
    --49103618(+) GATGAA/GATCTC 1 -- ds50010--------
    rs1119031101,2
    C,F--49103686(+) CTCCCG/AGGTTC 1 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs588734771,2
    C,F--49103705(+) CTCCCG/ATCTCA 1 -- ds50011Minor allele frequency- A:0.50WA 2
    rs621303091,2
    C--49103737(+) ACAGGC/TGCCCG 1 -- ds50011Minor allele frequency- T:0.50NA 2
    rs3952621,2
    C,F--49103741(-) GTGGCG/AGGCGC 1 -- ds50012Minor allele frequency- A:0.50WA CSA 4
    rs12360951,2
    C,H--49103771(-) tctacT/Caaata 1 -- ds50019Minor allele frequency- C:0.06NA WA CSA 16

    HapMap Linkage Disequilibrium report for FAM83E (49103857 - 49118111 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for FAM83E:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv912234CNV Loss21882294
    nsv138413CNV Loss16902084
    dgv3967n71CNV Loss21882294
    nsv912225CNV Loss21882294
    nsv912228CNV Loss21882294
    dgv3966n71CNV Loss21882294
    nsv9739CNV Gain+Loss18304495

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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.)
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    1 disease for FAM83E:    About MalaCards
    bipolar disorder


    FAM83E for disorders           About GeneDecksing

    Genetic Association Database (GAD): FAM83E
    Human Genome Epidemiology (HuGE) Navigator: FAM83E (3 documents)

    Export disorders for FAM83E 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 FAM83E gene integrated from 10 sources:
    (articles sorted by number of sources associating them with FAM83E)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    2. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. (PubMed id 21926972)1 (Nat. Genet. 2011)
    3. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (Am. J. Hum. Genet. 2009)
    4. The lacrimal gland transcriptome is an unusually rich source of rare and poorly characterized gene transcripts. (PubMed id 15851553)1 Ozyildirim A.M....Laurie G.W. (amp 2005)
    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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)2 Grimwood J.... Lucas S.M. (Nature 2004)
    8. 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: 54854 HGNC: 25972 AceView: FLJ20200 Ensembl:ENSG00000105523 euGenes: HUgn54854
    ECgene: FAM83E H-InvDB: FAM83E

    (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 FAM83E 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 FAM83E gene:
    Search GeneIP for patents involving FAM83E

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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