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

Gene ID: 100129583, updated on 11-Apr-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 positive regulation of histone methylation and protein localization to chromatin. Located in chromatin; cytoplasm; and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in thyroid (RPKM 4.6), fat (RPKM 4.2) and 20 other tissues See more
Orthologs
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Genomic context

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Location:
4q21.1
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (76214040..76283783)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (79554708..79624480)
105.20220307 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
  • 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
part_of chromatin IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of 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_2023_10

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.

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