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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) Band 4q21.1 Start 76,251,721 bp End 76,311,129 bp
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS n/a
Gene ontology Molecular function molecular function Cellular component cytoplasm Biological process biological process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 100631383 n/a Ensembl ENSG00000272414 n/a UniProt Q6ZV65 n/a RefSeq (mRNA) NM_001242939 n/a RefSeq (protein) NP_001130042 NP_001229865 NP_001229868 n/a Location (UCSC) Chr 4: 76.25 – 76.31 Mb n/a PubMed search n/a
Wikidata
View/Edit Human

FAM47E-STBD1 readthrough is a protein that in humans is encoded by the FAM47E-STBD1 gene.

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.

References

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

Further reading

• 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.

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