U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

FAM47E-STBD1 FAM47E-STBD1 readthrough [ Homo sapiens (human) ]

Gene ID: 100631383, updated on 5-Nov-2023

Summary

Go to the top of the page Help
Official Symbol
FAM47E-STBD1provided by HGNC
Official Full Name
FAM47E-STBD1 readthroughprovided by HGNC
Primary source
HGNC:HGNC:44667
See related
Ensembl:ENSG00000272414 AllianceGenome:HGNC:44667
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
Also known as
FAM47E
Summary
This locus represents naturally occurring read-through transcription between the neighboring FAM47E (family with sequence similarity 47, member E) and STBD1 (starch binding domain 1) genes on chromosome 4. The read-through transcript encodes a protein that shares sequence identity with the upstream gene product but its C-terminal region is distinct due to frameshifts relative to the downstream gene. [provided by RefSeq, Jul 2011]
Expression
Broad expression in fat (RPKM 62.5), liver (RPKM 30.0) and 20 other tissues See more
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
4q21.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (76251721..76311130)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (79592400..79651849)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (77172874..77232283)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900718 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 family with sequence similarity 47 member E Neighboring gene uncharacterized LOC105377286 Neighboring gene NFE2L2 motif-containing MPRA enhancer 290 Neighboring gene coiled-coil domain containing 158 Neighboring gene starch binding domain 1 Neighboring gene RNA, U6 small nuclear 1000, pseudogene Neighboring gene sorting nexin 5 pseudogene 1

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Clone Names

  • FLJ33595, FLJ34958, FLJ59708, FLJ78938

General protein information

Go to the top of the page Help
Preferred Names
uncharacterized protein LOC100631383
Names
Protein FAM47E

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_001242939.2 → NP_001229868.1  uncharacterized protein LOC100631383

    See identical proteins and their annotated locations for NP_001229868.1

    Status: VALIDATED

    Source sequence(s)
    AC034139, AK092277
    UniProtKB/Swiss-Prot
    Q6ZV65
    Related
    ENSP00000422067.1, ENST00000515604.5
    Conserved Domains (1) summary
    pfam14642
    Location:1 → 174
    FAM47; FAM47 family

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
    76251721..76311130
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    79592400..79651849
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

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

Molecular Biology Databases
Research Materials
Tools
Miscellaneous