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

FAM83H Gene

protein-coding   GIFtS: 48
GCID: GC08M144806

family with sequence similarity 83, member H

 Explore 3 diseases affiliated with
FAM83H via our new
 Human Malady Compendium 
Biological research products
for FAM83H
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Family With Sequence Similarity 83, Member H1 2
AI32 5
FLJ460721
FAM83H Variant 12
Protein FAM83H2

External Ids:    HGNC: 247971   Entrez Gene: 2860772   Ensembl: ENSG000001809217   OMIM: 6119275   UniProtKB: Q6ZRV23   

Export aliases for FAM83H gene to outside databases

Previous GC identifers: GC08M144879 GC08M140058


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

Entrez Gene summary for FAM83H:
The protein encoded by this gene plays an important role in the structural development and calcification of tooth
enamel. Defects in this gene are a cause of amelogenesis imperfecta type 3 (AI3). (provided by RefSeq, Mar 2010)

UniProtKB/Swiss-Prot: FA83H_HUMAN, Q6ZRV2
Function: May play a major role in the structural organization and calcification of developing enamel

Gene Wiki entry for 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.1  NT_008046.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FAM83H gene promoter:
         USF1   p53   Tal-1   Pax-5   Bach2   E47   HEN1   USF-1   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): FAM83H promoter sequence
   Search SABiosciences Chromatin IP Primers for FAM83H

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM83H


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

Entrez Gene cytogenetic band: 8q24.3   Ensembl cytogenetic band:  8q24.3   HGNC cytogenetic band: 8q24.3

FAM83H Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM83H gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M144806:  view genomic region     (about GC identifiers)

Start:
144,806,103 bp from pter      End:
144,815,971 bp from pter
Size:
9,869 bases      Orientation:
minus strand

1 alternative location:
Chr8-,PATCHES 144,792,468-144,802,279     

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: FA83H_HUMAN, Q6ZRV2 (See protein sequence)
Recommended Name: Protein FAM83H  
Size: 1179 amino acids; 127122 Da
Sequence caution: Sequence=BAC87207.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A0JLS2 Q8N4W0

Explore the universe of human proteins at neXtProt for FAM83H: NX_Q6ZRV2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6ZRV2

  • FAM83H Protein expression data from MOPED and PaxDb:    About this image 
    FAM83H Protein Expression
    REFSEQ proteins: NP_940890.3  
    ENSEMBL proteins: 
     ENSP00000373565   ENSP00000378535  

    Human Recombinant Protein Products for FAM83H: 
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    Uscn Proteins for FAM83H


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    Uscn Antibodies for FAM83H
    Search ThermoFisher Antibodies for FAM83H

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    Uscn ELISAs and CLIAs for FAM83H


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    FAM83H for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR012461 DUF1669

    Graphical View of Domain Structure for InterPro Entry Q6ZRV2

    ProtoNet protein and cluster: Q6ZRV2

    UniProtKB/Swiss-Prot: FA83H_HUMAN, Q6ZRV2
    Similarity: Belongs to the FAM83 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FA83H_HUMAN, Q6ZRV2
    Function: May play a major role in the structural organization and calcification of developing enamel

    Animal Models:

       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for FAM83H 

    miRNA
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    miRTarBase miRNAs that target FAM83H:
    hsa-mir-124 (MIRT004896)

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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FAM83H
    4 QIAGEN miScript miRNA Assays for microRNAs that regulate FAM83H:
    hsa-miR-21* hsa-miR-125a-5p hsa-miR-125b hsa-miR-4319
    SwitchGear 3'UTR luciferase reporter plasmidFAM83H 3' UTR sequence
    Inhib. RNA
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    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    Sirion Biotech Customized inducible overexpressing cell line services for FAM83H

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM83H


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FAM83H

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5/6 Interacting proteins for FAM83H (Q6ZRV23 ENSP000003735654) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSP90AA1P079003, ENSP000003351534I2D: score=1 STRING: ENSP00000335153
    CAMKK2Q96RR43I2D: score=1 
    NCK1P163333I2D: score=1 
    NCK2O436393I2D: score=1 
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0031214biomineral tissue development IEA--

    FAM83H for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 FAM83H
    Search CenterWatch for drugs/clinical trials and news about FAM83H / FA83H 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FAM83H gene: 
    NM_198488.3  

    Unigene Clusters for FAM83H:

    Family with sequence similarity 83, member H
    Hs.67776  [show with all ESTs], Hs.713170  [show with all ESTs]
    Unigene Representative Sequences: NM_198488, AK127960
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000388913(uc022bch.1 uc003yzk.3) ENST00000395103

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FAM83H
    4 QIAGEN miScript miRNA Assays for microRNAs that regulate FAM83H:
    hsa-miR-21* hsa-miR-125a-5p hsa-miR-125b hsa-miR-4319
    SwitchGear 3'UTR luciferase reporter plasmidFAM83H 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FAM83H (see all 4)
    OriGene shRNA RFP: FAM83H
    OriGene siRNA: FAM83H
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FAM83H
    Sirion Biotech Custom design and validation of potent shRNA sequences against FAM83H 
    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FAM83H (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FAM83H
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: FAM83H (NM_198488)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FAM83H
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat FAM83H 
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    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FAM83H
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    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat FAM83H
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FAM83H
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM83H

    Additional cDNA sequence: AK127960.1 

    5 DOTS entries:

    DT.92424481  DT.100746853  DT.113277  DT.107786  DT.120648833 

    24/128 AceView cDNA sequences (see all 128):

    AW675639 BM982083 AI468760 BU686964 AI653219 AI695846 AI949095 CB850787 
    AI205821 BF438789 CA945056 BE301779 BF589835 AA100398 AI935278 AW026390 
    BF439122 BF433560 AA426214 AI199907 BG254324 BI258159 BF059030 BU502538 

    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

    FAM83H expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATGTGGCACA
    FAM83H Expression
    About this image

    FAM83H expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyRenal Collecting Duct SystemKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See FAM83H Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FAM83H

    SOURCE GeneReport for Unigene clusters: Hs.67776 Hs.713170

    UniProtKB/Swiss-Prot: FA83H_HUMAN, Q6ZRV2
    Tissue specificity: Expressed in the tooth follicle

        SABiosciences Custom PCR Arrays for FAM83H
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM83H

    (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 FAM83H gene from 3/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves FAM83H1 family with sequence similarity 83, member H 57.66(n)
    54.06(a)
      426293  XM_423955.3  XP_423955.2 
    lizard
    (Anolis carolinensis)
    Reptilia FAM83H6
    --
    38(a)
    1 ↔ 1
    GL343931.1(8805-17383)
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-199g17.16
    si:dkey-221j11.26
    si:dkey-221j11.2
    25(a)
    11(a)
    1 ↔ many
    1 ↔ many
    19(44944321-44972369)
    13(43215636-43232418)


    ENSEMBL Gene Tree for FAM83H (if available)
    TreeFam Gene Tree for FAM83H (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FAM83H gene
    FAM83C2  FAM83G2  FAM83E2  FAM83D2  FAM83A2  FAM83B2  FAM83F2  
    1 SIMAP similar gene for FAM83H using alignment to 4 protein entries:     FA83H_HUMAN (see all proteins):
    FAM83A

    FAM83H for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/215 NCBI SNPs in FAM83H are shown (see all 215    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs761878351,2
    F--140058463(+) GAAGCG/AGTGAG 1 -- ds50011Minor allele frequency- A:0.10WA 118
    rs733711861,2
    C--140058513(+) GCTGCC/TGAGGG 1 -- ds50012Minor allele frequency- T:0.06WA 120
    rs1174557681,2
    C--140058589(+) GGCTGG/TGGGAG 1 -- ds50010--------
    rs283606811,2
    C--140058907(+) CATGCT/CAGAAT 1 -- ds50012Minor allele frequency- C:0.08CSA WA 120
    rs792985131,2
    F--140058980(+) GGGTGC/GAGGCA 1 -- ut311Minor allele frequency- G:0.11NA 120
    rs78316661,2
    C,F,H--140059469(+) TTCCTC/TTCTAG 1 -- ut316Minor allele frequency- T:0.02NS NA 794
    rs602206951,2
    C,F--140059587(+) TGCTGG/CATACC 1 -- ut313Minor allele frequency- C:0.21WA NA 122
    rs767749931,2
    C,F--140059646(+) GGGCTC/TGGCCT 1 -- ut311Minor allele frequency- T:0.02EA 120
    rs798327261,2
    C,F--140060772(+) GCTGAG/AGGGAG 1 -- ut311Minor allele frequency- A:0.06WA 118
    rs1176947731,2
    C,F--140060774(+) TGAGGG/AGAGAA 1 -- ut311Minor allele frequency- A:0.03EA 120

    HapMap Linkage Disequilibrium report for FAM83H (144806103 - 144815971 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for FAM83H
         1 CNV: 70485
    Human Gene Mutation Database (HGMD): FAM83H

    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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    FAM83H for disorders           About GeneDecksing

    OMIM gene information: 611927   
    OMIM disorders: 130900  
    UniProtKB/Swiss-Prot: FA83H_HUMAN, Q6ZRV2
  • Defects in FAM83H are the cause of amelogenesis imperfecta type 3 (AI3) [MIM:130900]. AI3 is an autosomal
  • dominant hypomineralized form of amelogenesis imperfecta, a defect of enamel formation. AI3 is characterized by enamel
    of normal thickness, but soft and with cheesy consistency. Enamel is lost from tooth soon after eruption

    3 diseases for FAM83H:    About MalaCards
    amelogenesis imperfecta    adult medulloblastoma    medulloblastoma

    2 diseases from the University of Copenhagen DISEASES database for FAM83H:
    Amelogenesis imperfecta     Adult medulloblastoma

    Export disorders for FAM83H 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 FAM83H gene, integrated from 9 sources (see all 28):
    (articles sorted by number of sources associating them with FAM83H)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta. (PubMed id 18252228)1, 2 Kim J.-W.... Simmer J.P. (2008)
    2. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (2012)
    3. Molecular characterization of amelogenesis imperfecta in Chinese patients. (PubMed id 22414746)1 Song Y.L....Bian Z. (2012)
    4. Limited phenotypic variation of hypocalcified amelogen esis imperfecta in a Danish five-generation family with a novel FAM83H nonsense mutation. (PubMed id 21702852)1 Haubek D....Hertz J.M. (2011)
    5. FAM83H mutations cause ADHCAI and alter intracellular protein localization. (PubMed id 21118793)1 Lee S.K....Kim J.W. (2011)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    7. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    8. Ultrastructural analyses of deciduous teeth affected by hypocalcified amelogenesis imperfecta from a family with a novel Y458X FAM83 H nonsense mutation. (PubMed id 20160442)1 El-Sayed W....Mighell A.J. (2010)
    9. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    10. Systematic analysis of human protein complexes identi fies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R....Peters J.M. (2010)

    (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: 286077 HGNC: 24797 AceView: FLJ46072 Ensembl:ENSG00000180921 euGenes: HUgn286077
    ECgene: FAM83H H-InvDB: FAM83H

    (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 FAM83H 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 FAM83H gene:
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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
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