Display Settings:

Format

Send to:

Choose Destination

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

Gene ID: 100129583, updated on 7-Dec-2014
Official Symbol
FAM47Eprovided by HGNC
Official Full Name
family with sequence similarity 47, member Eprovided by HGNC
Primary source
HGNC:HGNC:34343
Locus tag
hCG_23000
See related
Ensembl:ENSG00000189157; Vega:OTTHUMG00000185390
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
See FAM47E in Epigenomics, MapViewer
Location:
4q21.1
Exon count:
10
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 4 NC_000004.12 (76214040..76283783)
105 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 54kDa Neighboring gene scavenger receptor class B, member 2 Neighboring gene FAM47E-STBD1 readthrough Neighboring gene coiled-coil domain containing 158 Neighboring gene starch binding domain 1 Neighboring gene sorting nexin 5 pseudogene 1

NHGRI GWAS Catalog

Description
Genome-wide association study reveals genetic risk underlying Parkinson's disease.
NHGRI GWA Catalog
Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.
NHGRI GWA Catalog

Markers

Readthrough FAM47E-STBD1

Readthrough gene: FAM47E-STBD1, Included gene: STBD1

Homology

Clone Names

  • FLJ34958
Preferred Names
protein FAM47E
Names
protein FAM47E

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_001136570.2NP_001130042.1  protein FAM47E isoform a

    See proteins identical to 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, OTTHUMP00000219090, ENST00000424749, OTTHUMT00000362528
    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, OTTHUMP00000219094, ENST00000510197, OTTHUMT00000362534
    Conserved Domains (1) summary
    pfam14642
    Location:2861
    FAM47; FAM47 family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000004.12 

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

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 

    Range
    77111548..77181407
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000136.1 

    Range
    72887211..72956976
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)