FERM and PDZ domain containing 2

FRMPD2
Identifiers
Aliases	FRMPD2, PDZD5C, PDZK4, PDZK5C, FERM and PDZ domain containing 2
External IDs	OMIM: 613323 MGI: 2685472 HomoloGene: 51854 GeneCards: FRMPD2
Gene location (Human)
Chr.	Chromosome 10 (human)[1]
End	48,274,696 bp[1]
Gene location (Mouse)
Chr.	Chromosome 14 (mouse)[2]
End	33,575,269 bp[2]
Gene ontology
Molecular function	• GO:0001948 protein binding; • 1-phosphatidylinositol binding;
Cellular component	• membrane; • cell junction; • cytoskeleton; • cytoplasm; • cell membrane; • basolateral plasma membrane; • bicellular tight junction;
Biological process	• bicellular tight junction assembly;
	Sources:Amigo / QuickGO
Orthologs
	143162
	268729
	ENSG00000170324
	ENSMUSG00000108841
	Q68DX3
	n/a
	NM_001017929; NM_001018071; NM_001042512; NM_152428; NM_001318191
	XM_017316244
	NP_001018081; NP_001035977; NP_001305120
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

FERM and PDZ domain containing 2 is a protein that in humans is encoded by the FRMPD2 gene. [5]

Function

This gene encodes a peripheral membrane protein and is located in a region of chromosome 10q that contains a segmental duplication. This copy of the gene is full-length and is in the telomeric duplicated region. Two other more centromerically proximal copies of the gene are partial and may represent pseudogenes. This full-length gene appears to function in the establishment and maintenance of cell polarization. The protein is recruited to cell-cell junctions in an E-cadherin-dependent manner, and is selectively localized at the basolateral membrane in polarized epithelial cells. Alternative splicing results in multiple transcript variants.

GRCh38: Ensembl release 89: ENSG00000170324 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000108841 - 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.
"Entrez Gene: FERM and PDZ domain containing 2". Retrieved 2017-09-05.

Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe JS, Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A, Wavrant-De Vrièze F, Kaleem M, Hollingworth P, Jehu L, Foy C, Archer N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J, White TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L, Morris JC, Thal L, Owen M, Williams J, Goate A (2006). "A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease". Am. J. Hum. Genet. 78 (1): 78–88. doi:10.1086/498851. PMC 1380225. PMID 16385451.
Stenzel N, Fetzer CP, Heumann R, Erdmann KS (2009). "PDZ-domain-directed basolateral targeting of the peripheral membrane protein FRMPD2 in epithelial cells". J. Cell Sci. 122 (Pt 18): 3374–84. doi:10.1242/jcs.046854. PMID 19706687.

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

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