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Tbio FERM and PDZ domain-containing protein 4

Positive regulator of dendritic spine morphogenesis and density. Required for the maintenance of excitatory synaptic transmission. Binds phosphatidylinositol 4,5-bisphosphate.

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. [provided by RefSeq, Jan 2010]

 Comments

Property Summary

NCBI Gene PubMed Count 8
PubMed Score 2.03
PubTator Score 2.01

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (3)

Disease Target Count Z-score Confidence
Intellectual disability 573 3.421 1.7

Expression

  Differential Expression (14)

Disease log2 FC p
malignant mesothelioma -4.000 8.3e-08
astrocytic glioma -2.300 1.1e-03
posterior fossa group A ependymoma -3.600 2.5e-16
oligodendroglioma -2.200 2.8e-03
glioblastoma -3.600 1.3e-08
osteosarcoma 1.320 1.5e-03
medulloblastoma -2.900 2.2e-06
atypical teratoid / rhabdoid tumor -3.500 3.4e-10
medulloblastoma, large-cell -3.300 2.6e-05
primitive neuroectodermal tumor -3.800 4.7e-06
pediatric high grade glioma -3.200 1.2e-08
pilocytic astrocytoma -3.600 2.1e-10
lung carcinoma 2.000 7.6e-16
psoriasis -1.200 7.1e-09

Synonym

Accession Q14CM0 A8K0X9 O15032
Symbols MRX104
PDZD10
PDZK10

Gene

FRMPD4

PANTHER Protein Class (1)

PDB

4WND   4WNE   4WNF   4WNG  

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

 UniProt Keyword (5)

 GO Function (1)

 GO Component (2)

 GO Process (1)

 Compartment GO Term (16)

See all...

 MGI Phenotype (3)

 HCA RNA Cell Line (34)

See all...

Pathway (1)

Gene RIF (5)

PMID Text
26555035 Study suggests that the variant rs5979717 in FRMPD4 may play a role in schizophrenia etiology in females
25664792 A crystal structure of Frmpd4-bound LGN in an oxidized form is also reported, although oxidation does not appear to strongly affect the interaction with Frmpd4.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19118189 Preso positively regulates spine density through its interaction with the synaptic plasma membrane, actin filaments, PSD-95, and the betaPix-based Rac1 signaling pathway.

AA Sequence 

MDVFSFVKIAKLSSHRTKSSGWPPPSGTWGLSQVPPYGWEMTANRDGRDYFINHMTQAIPFDDPRLESCQ      1 - 70
IIPPAPRKVEMRRDPVLGFGFVAGSEKPVVVRSVTPGGPSEGKLIPGDQIVMINDEPVSAAPRERVIDLV     71 - 140
RSCKESILLTVIQPYPSPKSAFISAAKKARLKSNPVKVRFSEEVIINGQVSETVKDNSLLFMPNVLKVYL    141 - 210
ENGQTKSFRFDCSTSIKDVILTLQEKLSIKGIEHFSLMLEQRTEGAGTKLLLLHEQETLTQVTQRPSSHK    211 - 280
MRCLFRISFVPKDPIDLLRRDPVAFEYLYVQSCNDVVQERFGPELKYDIALRLAALQMYIATVTTKQTQK    281 - 350
ISLKYIEKEWGLETFLPSAVLQSMKEKNIKKALSHLVKANQNLVPPGKKLSALQAKVHYLKFLSDLRLYG    351 - 420
GRVFKATLVQAEKRSEVTLLVGPRYGISHVINTKTNLVALLADFSHVNRIEMFSEEESLVRVELHVLDVK    421 - 490
PITLLMESSDAMNLACLTAGYYRLLVDSRRSIFNMANKKNTATQETGPENKGKHNLLGPDWNCIPQMTTF    491 - 560
IGEGEQEAQITYIDSKQKTVEITDSTMCPKEHRHLYIDNAYSSDGLNQQLSQPGEAPCEADYRSLAQRSL    561 - 630
LTLSGPETLKKAQESPRGAKVSFIFGDFALDDGISPPTLGYETLLDEGPEMLEKQRNLYIGSANDMKGLD    631 - 700
LTPEAEGIQFVENSVYANIGDVKSFQAAEGIEEPLLHDICYAENTDDAEDEDEVSCEEDLVVGEMNQPAI    701 - 770
LNLSGSSDDIIDLTSLPPPEGDDNEDDFLLRSLNMAIAAPPPGFRDSSDEEDSQSQAASFPEDKEKGSSL    771 - 840
QNDEIPVSLIDAVPTSAEGKCEKGLDNAVVSTLGALEALSVSEEQQTSDNSGVAILRAYSPESSSDSGNE    841 - 910
TNSSEMTESSELATAQKQSENLSRMFLATHEGYHPLAEEQTEFPASKTPAGGLPPKSSHALAARPATDLP    911 - 980
PKVVPSKQLLHSDHMEMEPETMETKSVTDYFSKLHMGSVAYSCTSKRKSKLADGEGKAPPNGNTTGKKQQ    981 - 1050
GTKTAEMEEEASGKFGTVSSRDSQHLSTFNLERTAFRKDSQRWYVATEGGMAEKSGLEAATGKTFPRASG   1051 - 1120
LGAREAEGKEEGAPDGETSDGSGLGQGDRFLTDVTCASSAKDLDNPEDADSSTCDHPSKLPEADESVARL   1121 - 1190
CDYHLAKRMSSLQSEGHFSLQSSQGSSVDAGCGTGSSGSACATPVESPLCPSLGKHLIPDASGKGVNYIP   1191 - 1260
SEERAPGLPNHGATFKELHPQTEGMCPRMTVPALHTAINTEPLFGTLRDGCHRLPKIKETTV           1261 - 1322
//

Text Mined References (11)

PMID Year Title
26555035 2016 Possibility of a sex-specific role for a genetic variant in FRMPD4 in schizophrenia, but not cognitive function.
25664792 2015 Structural basis for the recognition of the scaffold protein Frmpd4/Preso1 by the TPR domain of the adaptor protein LGN.
20628086 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.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19118189 2008 Preso, a novel PSD-95-interacting FERM and PDZ domain protein that regulates dendritic spine morphogenesis.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12421765 2002 Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs.
9205841 1997 Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.