FRMPD4

FERM and PDZ domain containing 4 is a protein that in humans is encoded by the FRMPD4 gene.

FRMPD4
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4WND, 4WNE, 4WNF, 4WNG
Identifiers
Aliases	FRMPD4, PDZD10, PDZK10, FERM and PDZ domain containing 4, MRX104
External IDs	OMIM: 300838 MGI: 3042378 HomoloGene: 45843 GeneCards: FRMPD4
Gene location (Human) Chr. X chromosome (human) Band Xp22.2 Start 12,138,466 bp End 12,724,523 bp
Gene location (Mouse) Chr. X chromosome (mouse) Band X|X F5 Start 166,254,305 bp End 167,360,227 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in middle temporal gyrus endothelial cell Brodmann area 23 Brodmann area 46 orbitofrontal cortex superior frontal gyrus postcentral gyrus entorhinal cortex prefrontal cortex Region I of hippocampus proper Top expressed in hippocampus proper superior frontal gyrus cerebellum cerebellar cortex vasculature olfactory bulb spinal ganglia hypothalamus secondary oocyte choroid plexus More reference expression data BioGPS n/a
Gene ontology Molecular function phosphatidylinositol-4,5-bisphosphate binding protein binding lipid binding Cellular component dendritic spine cell projection cytoskeleton protein-containing complex postsynaptic density glutamatergic synapse Biological process positive regulation of synapse structural plasticity postsynaptic actin cytoskeleton organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9758 333605 Ensembl ENSG00000169933 ENSMUSG00000049176 UniProt Q14CM0 A2AFR3 RefSeq (mRNA) NM_014728 NM_001033330 NM_001290427 NM_001290428 NM_001359072 NM_001368936 NM_001369234 RefSeq (protein) NP_055543 NP_001355324 NP_001355325 NP_001355326 NP_001355327 NP_001355328 NP_001355329 NP_001355330 NP_001355331 NP_001028502 NP_001277356 NP_001277357 NP_001346001 NP_001355865 NP_001356163 Location (UCSC) Chr X: 12.14 – 12.72 Mb Chr X: 166.25 – 167.36 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Function

This gene encodes a multi-domain (WW, PDZ, FERM) containing protein. Through its interaction with other proteins (such as PSD-95), it functions as a positive regulator of dendritic spine morphogenesis and density, and is required for the maintenance of excitatory synaptic transmission.

Further reading

• Lee HW, Choi J, Shin H, Kim K, Yang J, Na M, Choi SY, Kang GB, Eom SH, Kim H, Kim E (2008). "Preso, a novel PSD-95-interacting FERM and PDZ domain protein that regulates dendritic spine morphogenesis". J. Neurosci. 28 (53): 14546–56. doi:10.1523/JNEUROSCI.3112-08.2008. PMC 6671232. PMID 19118189.
• Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD (2009). "Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip". Am. J. Hum. Genet. 85 (5): 628–42. doi:10.1016/j.ajhg.2009.10.014. PMC 2775832. PMID 19913121.
• Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S (2010). "Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study". Diabetes Care. 33 (10): 2250–3. doi:10.2337/dc10-0452. PMC 2945168. PMID 20628086.

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