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    FAM83E family with sequence similarity 83 member E [ Homo sapiens (human) ]

    Gene ID: 54854, updated on 10-Dec-2024

    Summary

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    Official Symbol
    FAM83Eprovided by HGNC
    Official Full Name
    family with sequence similarity 83 member Eprovided by HGNC
    Primary source
    HGNC:HGNC:25972
    See related
    Ensembl:ENSG00000105523 AllianceGenome:HGNC:25972
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Enables protein kinase binding activity. Predicted to be involved in signal transduction. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in stomach (RPKM 22.5), colon (RPKM 19.8) and 7 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM83E in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (48599961..48615076, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (51594097..51609712, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (49103218..49118333, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48993225-48993796 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10882 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10883 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10884 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:48996420-48996611 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10886 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:48997173-48997673 Neighboring gene lemur tyrosine kinase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10887 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10888 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:49017633-49017779 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49046825-49047364 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49048751-49049694 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49054849-49055373 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49057162-49058100 Neighboring gene sulfotransferase family 2B member 1 Neighboring gene Sharpr-MPRA regulatory regions 10218 and 12364 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14898 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:49117268-49117444 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49117749-49118580 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49118581-49119412 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49119413-49120243 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:49121076-49121906 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14902 Neighboring gene sperm acrosome associated 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14903 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10889 Neighboring gene Sharpr-MPRA regulatory region 2382 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49130943-49131443 Neighboring gene ribosomal protein L18 Neighboring gene sphingosine kinase 2 Neighboring gene D-box binding PAR bZIP transcription factor

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Conserved oncogenic behavior of the FAM83 family regulates MAPK signaling in human cancer. Cipriano R, et al. Mol Cancer Res, 2014 Aug. PMID 24736947, Free PMC Article
    2. The DUF1669 domain of FAM83 family proteins anchor casein kinase 1 isoforms. Fulcher LJ, et al. Sci Signal, 2018 May 22. PMID 29789297, Free PMC Article
    3. Genetic variations affecting serum carcinoembryonic antigen levels and status of regional lymph nodes in patients with sporadic colorectal cancer from Southern China. Liang Y, et al. PLoS One, 2014. PMID 24941225, Free PMC Article
    4. The lacrimal gland transcriptome is an unusually rich source of rare and poorly characterized gene transcripts. Ozyildirim AM, et al. Invest Ophthalmol Vis Sci, 2005 May. PMID 15851553
    5. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. Psychiatric GWAS Consortium Bipolar Disorder Working Group. Nat Genet, 2011 Sep 18. PMID 21926972, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genetic variations affecting serum carcinoembryonic antigen levels and status of regional lymph nodes in patients with sporadic colorectal cancer from Southern China.
    EBI GWAS Catalog
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20200, MGC138175, MGC138177

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein FAM83E

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_017708.4 → NP_060178.2  protein FAM83E

      See identical proteins and their annotated locations for NP_060178.2

      Status: VALIDATED

      Source sequence(s)
      AC008403, AC022154, BC111970, CD722642, DB200401, DB209905
      Consensus CDS
      CCDS42587.1
      UniProtKB/Swiss-Prot
      Q2M2I3, Q9NXK1
      Related
      ENSP00000263266.2, ENST00000263266.4
      Conserved Domains (1) summary
      pfam07894
      Location:16 → 289
      DUF1669; Protein of unknown function (DUF1669)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      48599961..48615076 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024451561.2 → XP_024307329.1  protein FAM83E isoform X1

      UniProtKB/Swiss-Prot
      Q2M2I3, Q9NXK1
      Conserved Domains (1) summary
      pfam07894
      Location:16 → 289
      DUF1669; Protein of unknown function (DUF1669)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      51594097..51609712 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321329.1 → XP_054177304.1  protein FAM83E isoform X1

    2. XM_054321330.1 → XP_054177305.1  protein FAM83E isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2M2I3.2 GenPept UniProtKB/Swiss-Prot:Q2M2I3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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