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    FAM47E family with sequence similarity 47 member E [ Homo sapiens (human) ]

    Gene ID: 100129583, updated on 2-Nov-2024

    Summary

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    Official Symbol
    FAM47Eprovided by HGNC
    Official Full Name
    family with sequence similarity 47 member Eprovided by HGNC
    Primary source
    HGNC:HGNC:34343
    See related
    Ensembl:ENSG00000189157 AllianceGenome:HGNC:34343
    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 enzyme activator activity. Involved in protein localization to chromatin and transcription initiation-coupled chromatin remodeling. Located in chromatin; cytoplasm; and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in thyroid (RPKM 4.6), fat (RPKM 4.2) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM47E in Genome Data Viewer
    Location:
    4q21.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (76214040..76283783)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (79554708..79624480)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (77135193..77204936)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene nucleoporin 54 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21626 Neighboring gene uncharacterized LOC124900718 Neighboring gene NANOG hESC enhancer GRCh37_chr4:77075501-77076330 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15485 Neighboring gene scavenger receptor class B member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21627 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21628 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:77134378-77134782 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:77155049-77155925 Neighboring gene uncharacterized LOC105377286 Neighboring gene FAM47E-STBD1 readthrough Neighboring gene NFE2L2 motif-containing MPRA enhancer 290 Neighboring gene coiled-coil domain containing 158 Neighboring gene starch binding domain 1 Neighboring gene sorting nexin 5 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. No association of FAM47E rs6812193, SCARB2 rs6825004 and STX1B rs4889603 polymorphisms with Parkinson's disease in a Chinese Han population. Chen Y, et al. J Neural Transm (Vienna), 2015 Nov. PMID 26224037
    2. Functional genomic annotation of genetic risk loci highlights inflammation and epithelial biology networks in CKD. Ledo N, et al. J Am Soc Nephrol, 2015 Mar. PMID 25231882, Free PMC Article
    3. The uncharacterized protein FAM47E interacts with PRMT5 and regulates its functions. Chakrapani B, et al. Life Sci Alliance, 2021 Mar. PMID 33376131, Free PMC Article
    4. Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. Do CB, et al. PLoS Genet, 2011 Jun. PMID 21738487, Free PMC Article
    5. Genome-wide association study reveals genetic risk underlying Parkinson's disease. Simón-Sánchez J, et al. Nat Genet, 2009 Dec. PMID 19915575, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The uncharacterized protein FAM47E interacts with PRMT5 and regulates its functions.
      Title: The uncharacterized protein FAM47E interacts with PRMT5 and regulates its functions.
    2. Findings suggested that STX1B rs4889603, FAM47E rs6812193 and SCARB2 rs6825004 do not confer a significant risk for Parkinson's disease
      Title: No association of FAM47E rs6812193, SCARB2 rs6825004 and STX1B rs4889603 polymorphisms with Parkinson's disease in a Chinese Han population.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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
    Genome-wide association study reveals genetic risk underlying Parkinson's disease.
    EBI GWAS Catalog
    Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
    EBI GWAS Catalog
    Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Readthrough FAM47E-STBD1

    Readthrough gene: FAM47E-STBD1, Included gene: STBD1

    Homology

    Clone Names

    • FLJ34958

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables enzyme activator activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein localization to chromatin IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in transcription initiation-coupled chromatin remodeling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in transcription initiation-coupled chromatin remodeling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in chromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein FAM47E

    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_001136570.3 → NP_001130042.1  protein FAM47E isoform a

      See identical proteins and their annotated locations for NP_001130042.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AC034139, DB081518, N55430
      Consensus CDS
      CCDS47081.1
      UniProtKB/Swiss-Prot
      D6R8Y4, Q6ZV65
      Related
      ENSP00000409423.2, ENST00000424749.7
      Conserved Domains (1) summary
      pfam14642
      Location:1 → 174
      FAM47; FAM47 family

    2. NM_001242936.1 → NP_001229865.1  protein FAM47E isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a.
      Source sequence(s)
      AK124936, BM713546, N55430
      Consensus CDS
      CCDS58907.1
      UniProtKB/Swiss-Prot
      Q6ZV65
      Related
      ENSP00000422262.1, ENST00000510197.5

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      76214040..76283783
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      79554708..79624480
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZV65.3 GenPept UniProtKB/Swiss-Prot:Q6ZV65

    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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