FRMPD4

Protein-coding gene in humans
FRMPD4
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

4WND, 4WNE, 4WNF, 4WNG

Identifiers
AliasesFRMPD4, PDZD10, PDZK10, FERM and PDZ domain containing 4, MRX104
External IDsOMIM: 300838; MGI: 3042378; HomoloGene: 45843; GeneCards: FRMPD4; OMA:FRMPD4 - orthologs
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)[1]
X chromosome (human)
Genomic location for FRMPD4
Genomic location for FRMPD4
BandXp22.2Start12,138,466 bp[1]
End12,724,523 bp[1]
Gene location (Mouse)
X chromosome (mouse)
Chr.X chromosome (mouse)[2]
X chromosome (mouse)
Genomic location for FRMPD4
Genomic location for FRMPD4
BandX|X F5Start166,254,305 bp[2]
End167,360,227 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • middle temporal gyrus

  • endothelial cell

  • Brodmann area 23

  • Brodmann area 46

  • orbitofrontal cortex

  • superior frontal gyrus

  • postcentral gyrus

  • primary visual cortex

  • entorhinal cortex

  • prefrontal cortex
Top expressed in
  • dentate gyrus of hippocampal formation granule cell

  • hippocampus proper

  • primary visual cortex

  • superior frontal gyrus

  • cerebellum

  • cerebellar cortex

  • striatum of neuraxis

  • vasculature

  • vasculature of organ

  • olfactory bulb
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
SpeciesHumanMouse
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 MbChr X: 166.25 – 167.36 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

FERM and PDZ domain containing 4 is a protein that in humans is encoded by the FRMPD4 gene. [5]

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.

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000169933 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000049176 – 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.
  5. ^ "Entrez Gene: FERM and PDZ domain containing 4". Retrieved 2016-10-01.

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.


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