FAM47E-STBD1

FAM47E-STBD1
Identifiers
Aliases	FAM47E-STBD1, FAM47E-STBD1 readthrough, FAM47E
External IDs	GeneCards: FAM47E-STBD1; OMA:FAM47E-STBD1 - orthologs
Gene location (Human)
Chr.	Chromosome 4 (human)
End	76,311,129 bp
RNA expression pattern
	Top expressed in
	muscle of thigh; ; gastrocnemius muscle; ; islet of Langerhans; ; skeletal muscle tissue; ; liver; ; right lobe of liver; ; left ventricle; ; right auricle; ; mucosa of transverse colon; ; apex of heart;
	n/a
	More reference expression data
	n/a
Gene ontology
Molecular function	molecular function;
Cellular component	cytoplasm;
Biological process	biological process;
	Sources:Amigo / QuickGO
Orthologs
	100631383
	n/a
	ENSG00000272414
	n/a
	Q6ZV65
	n/a
	NM_001242939
	n/a
	NP_001130042; NP_001229865; NP_001229868
	n/a
	Wikidata
View/Edit Human

FAM47E-STBD1 readthrough is a protein that in humans is encoded by the FAM47E-STBD1 gene.^[3]

Function

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.^[3]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000272414 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: FAM47E-STBD1 readthrough".

Simón-Sánchez J, Schulte C, Bras JM, Sharma M, Gibbs JR, Berg D, et al. (December 2009). "Genome-wide association study reveals genetic risk underlying Parkinson's disease". Nature Genetics. 41 (12): 1308–12. doi:10.1038/ng.487. PMC 2787725. PMID 19915575.
Do CB, Tung JY, Dorfman E, Kiefer AK, Drabant EM, Francke U, Mountain JL, Goldman SM, Tanner CM, Langston JW, Wojcicki A, Eriksson N (June 2011). "Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease". PLOS Genetics. 7 (6): e1002141. doi:10.1371/journal.pgen.1002141. PMC 3121750. PMID 21738487.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This article on a gene on human chromosome 4 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000272414 – Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-3] "Entrez Gene: FAM47E-STBD1 readthrough".

[1]

[2]

[3]

Function

References

Further reading