TMEM47

TMEM47

Identifiers

TMEM47, BCMP1, TM4SF10, transmembrane protein 47, VAB-9

External IDs

OMIM: 300698 MGI: 2177570 HomoloGene: 41830 GeneCards: TMEM47

Gene location (Human)

Chr.	X chromosome (human)^[1]

Band	Xp21.1	Start	34,627,075 bp^[1]
Band	Xp21.1	End	34,657,285 bp^[1]

Gene location (Mouse)

Chr.	X chromosome (mouse)^[2]

Band	X\|X B	Start	80,114,304 bp^[2]
Band	X\|X B	End	80,141,478 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

saphenous vein

urethra

vena cava

seminal vesicula

superficial temporal artery

optic nerve

superior vestibular nucleus

thoracic diaphragm

Region I of hippocampus proper

right coronary artery

Top expressed in

median eminence

mammillary body

arcuate nucleus

suprachiasmatic nucleus

dorsomedial hypothalamic nucleus

ventromedial nucleus

paraventricular nucleus of hypothalamus

habenula

ventral tegmental area

globus pallidus

More reference expression data

BioGPS


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

Species

Human

Mouse

Entrez


83604


192216

Ensembl


ENSG00000147027


ENSMUSG00000025666

UniProt


Q9BQJ4


Q9JJG6

RefSeq (mRNA)


NM_031442


NM_138751

RefSeq (protein)


NP_113630


NP_620090

Location (UCSC)

Chr X: 34.63 – 34.66 Mb

Chr X: 80.11 – 80.14 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Transmembrane protein 47 is a protein that in humans is encoded by the TMEM47 gene.^[5]^[6]

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.^[6]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000147027 – Ensembl, May 2017
^ ^a ^b ^c 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.
^ ^a ^b "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.

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This page was last edited on 29 November 2023, at 02:26

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Function

References

Further reading