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; GeneCards: FRMPD2
Gene location (Human) Chr. Chromosome 10 (human) Band 10q11.22 Start 48,153,088 bp End 48,274,696 bp
Gene location (Mouse) Chr. Chromosome 14 (mouse) Band 14|14 B Start 33,193,653 bp End 33,297,226 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in superior frontal gyrus testicle dorsolateral prefrontal cortex Brodmann area 9 right frontal lobe cingulate gyrus anterior cingulate cortex right uterine tube olfactory zone of nasal mucosa corpus callosum Top expressed in neural layer of retina retinal pigment epithelium pineal gland epithelium of lens secondary oocyte zygote ciliary body autonomic nervous system greater petrosal nerve primary oocyte More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding 1-phosphatidylinositol binding Cellular component membrane cell junction cytoskeleton cytoplasm plasma membrane basolateral plasma membrane bicellular tight junction Biological process bicellular tight junction assembly Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 143162 268729 Ensembl ENSG00000170324 ENSMUSG00000108841 UniProt Q68DX3 n/a RefSeq (mRNA) NM_001017929 NM_001018071 NM_001042512 NM_152428 NM_001318191 XM_017316244 XM_036158980 XM_036158982 RefSeq (protein) NP_001018081 NP_001035977 NP_001305120 n/a Location (UCSC) Chr 10: 48.15 – 48.27 Mb Chr 14: 33.19 – 33.3 Mb PubMed search
Wikidata
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FERM and PDZ domain containing 2 is a protein that in humans is encoded by the FRMPD2 gene.

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.

Further reading

• 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.