TMEM47

TMEM47
Identifiers
Aliases	TMEM47, BCMP1, TM4SF10, transmembrane protein 47, VAB-9
External IDs	OMIM: 300698; MGI: 2177570; GeneCards: TMEM47
Gene location (Human)
Chr.	X chromosome (human)
End	34,657,285 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	80,141,478 bp
RNA expression pattern
	Top expressed in
	Epithelium of choroid plexus; ; saphenous vein; ; urethra; ; vena cava; ; seminal vesicula; ; superficial temporal artery; ; optic nerve; ; superior vestibular nucleus; ; tail of epididymis; ; thoracic diaphragm;
	Top expressed in
	median eminence; ; mammillary body; ; arcuate nucleus; ; Epithelium of choroid plexus; ; suprachiasmatic nucleus; ; dorsomedial hypothalamic nucleus; ; ventromedial nucleus; ; paraventricular nucleus of hypothalamus; ; lateral septal nucleus; ; habenula;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	molecular function;
Cellular component	plasma membrane; membrane; integral component of membrane; cell-cell junction; adherens junction; cell junction;
Biological process	biological process;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	83604
	192216
	ENSG00000147027
	ENSMUSG00000025666
	Q9BQJ4
	Q9JJG6
	NM_031442
	NM_138751
	NP_113630
	NP_620090
	Wikidata
View/Edit Human	View/Edit Mouse

Transmembrane protein 47 is a protein that in humans is encoded by the TMEM47 gene.

Function

This gene encodes a member of the PMP22/EMP/claudin protein family. The encoded protein is localized to the ER and the plasma membrane. In dogs, transcripts of this gene exist at high levels in the brain.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000147027 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000025666 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Christophe-Hobertus C, Szpirer C, Guyon R, Christophe D (Jul 2003). "Identification of the gene encoding Brain Cell Membrane Protein 1 (BCMP1), a putative four-transmembrane protein distantly related to the Peripheral Myelin Protein 22 / Epithelial Membrane Proteins and the Claudins". BMC Genomics. 2 3. doi:10.1186/1471-2164-2-3. PMC 35279. PMID 11472633.
1 2 "Entrez Gene: TMEM47 transmembrane protein 47".

Hartley JL, Temple GF, Brasch MA (Nov 2000). "DNA cloning using in vitro site-specific recombination". Genome Research. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Böcher M, Blöcker H, Bauersachs S, Blum H, Lauber J, Düsterhöft A, Beyer A, Köhrer K, Strack N, Mewes HW, Ottenwälder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A (Mar 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Research. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
Simpson JC, Wellenreuther R, Poustka A, Pepperkok R, Wiemann S (Sep 2000). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Reports. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC 1083732. PMID 11256614.
Christophe-Hobertus C, Kooy F, Gecz J, Abramowicz MJ, Holinski-Feder E, Schwartz C, Christophe D (Sep 2004). "TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation". BMC Medical Genetics. 5 22. doi:10.1186/1471-2350-5-22. PMC 517934. PMID 15345028.
Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, Bechtel S, Sauermann M, Korf U, Pepperkok R, Sültmann H, Poustka A (Oct 2004). "From ORFeome to biology: a functional genomics pipeline". Genome Research. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, Bechtel S, Simpson J, Hofmann O, Hide W, Glatting KH, Huber W, Pepperkok R, Poustka A, Wiemann S (Jan 2006). "The LIFEdb database in 2006". Nucleic Acids Research. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.

This article on a gene on the human X chromosome and/or its associated protein is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000147027 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000025666 – Ensembl, May 2017

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

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

[pmid11472633-5] Christophe-Hobertus C, Szpirer C, Guyon R, Christophe D (Jul 2003). "Identification of the gene encoding Brain Cell Membrane Protein 1 (BCMP1), a putative four-transmembrane protein distantly related to the Peripheral Myelin Protein 22 / Epithelial Membrane Proteins and the Claudins". BMC Genomics. 2 3. doi:10.1186/1471-2164-2-3. PMC 35279. PMID 11472633.

[entrez-6] 1 2 "Entrez Gene: TMEM47 transmembrane protein 47".

TMEM47

Function

References

Further reading