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

Gene ID: 100129583, updated on 5-Jan-2022

Summary

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
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, Nov 2021]
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

See FAM47E in Genome Data Viewer
Location:
4q21.1
Exon count:
10
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (76214040..76283783)
105.20201022 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 scavenger receptor class B member 2 Neighboring gene uncharacterized LOC105377286 Neighboring gene FAM47E-STBD1 readthrough Neighboring gene NFE2L2 motif-containing MPRA enhancer 290 Neighboring gene starch binding domain 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study reveals genetic risk underlying Parkinson's disease.
GeneReviews: Not available
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
GeneReviews: Not available
Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
Component Evidence Code Pubs
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 

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_001136570.3NP_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
    Q6ZV65
    Related
    ENSP00000409423.2, ENST00000424749.7
    Conserved Domains (1) summary
    pfam14642
    Location:1174
    FAM47; FAM47 family
  2. NM_001242936.1NP_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
    Conserved Domains (1) summary
    pfam14642
    Location:2861
    FAM47; FAM47 family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

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