• Gene id: 9758

Gene Summary

• Gene Symbol: FRMPD4   Gene   UCSC   Ensembl
• Aliases: MRX104, PDZD10, PDZK10
• Gene name: FERM and PDZ domain containing 4
• Alternate names: FERM and PDZ domain-containing protein 4, PDZ domain-containing protein 10, PSD-95-interacting FERM and PDZ domain protein, PSD-95-interacting regulator of spine morphogenesis, Preso,
• Gene location: Xp22.2 (11822438: 12724522)     Exons: 24     NC_000023.11
• Gene summary(Entrez): 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 ex
• OMIM: 610484

Protein Summary

• Protein general information: Q14CM0  
  • Name: FERM and PDZ domain containing protein 4 (PDZ domain containing protein 10) (PSD 95 interacting regulator of spine morphogenesis) (Preso)
  • Length: 1322  
  • Mass: 144379
• Sequence:

  MDVFSFVKIAKLSSHRTKSSGWPPPSGTWGLSQVPPYGWEMTANRDGRDYFINHMTQAIPFDDPRLESCQIIPPA
  PRKVEMRRDPVLGFGFVAGSEKPVVVRSVTPGGPSEGKLIPGDQIVMINDEPVSAAPRERVIDLVRSCKESILLT
  VIQPYPSPKSAFISAAKKARLKSNPVKVRFSEEVIINGQVSETVKDNSLLFMPNVLKVYLENGQTKSFRFDCSTS
  IKDVILTLQEKLSIKGIEHFSLMLEQRTEGAGTKLLLLHEQETLTQVTQRPSSHKMRCLFRISFVPKDPIDLLRR
  DPVAFEYLYVQSCNDVVQERFGPELKYDIALRLAALQMYIATVTTKQTQKISLKYIEKEWGLETFLPSAVLQSMK
  EKNIKKALSHLVKANQNLVPPGKKLSALQAKVHYLKFLSDLRLYGGRVFKATLVQAEKRSEVTLLVGPRYGISHV
  INTKTNLVALLADFSHVNRIEMFSEEESLVRVELHVLDVKPITLLMESSDAMNLACLTAGYYRLLVDSRRSIFNM
  ANKKNTATQETGPENKGKHNLLGPDWNCIPQMTTFIGEGEQEAQITYIDSKQKTVEITDSTMCPKEHRHLYIDNA
  YSSDGLNQQLSQPGEAPCEADYRSLAQRSLLTLSGPETLKKAQESPRGAKVSFIFGDFALDDGISPPTLGYETLL
  DEGPEMLEKQRNLYIGSANDMKGLDLTPEAEGIQFVENSVYANIGDVKSFQAAEGIEEPLLHDICYAENTDDAED
  EDEVSCEEDLVVGEMNQPAILNLSGSSDDIIDLTSLPPPEGDDNEDDFLLRSLNMAIAAPPPGFRDSSDEEDSQS
  QAASFPEDKEKGSSLQNDEIPVSLIDAVPTSAEGKCEKGLDNAVVSTLGALEALSVSEEQQTSDNSGVAILRAYS
  PESSSDSGNETNSSEMTESSELATAQKQSENLSRMFLATHEGYHPLAEEQTEFPASKTPAGGLPPKSSHALAARP
  ATDLPPKVVPSKQLLHSDHMEMEPETMETKSVTDYFSKLHMGSVAYSCTSKRKSKLADGEGKAPPNGNTTGKKQQ
  GTKTAEMEEEASGKFGTVSSRDSQHLSTFNLERTAFRKDSQRWYVATEGGMAEKSGLEAATGKTFPRASGLGARE
  AEGKEEGAPDGETSDGSGLGQGDRFLTDVTCASSAKDLDNPEDADSSTCDHPSKLPEADESVARLCDYHLAKRMS
  SLQSEGHFSLQSSQGSSVDAGCGTGSSGSACATPVESPLCPSLGKHLIPDASGKGVNYIPSEERAPGLPNHGATF
  KELHPQTEGMCPRMTVPALHTAINTEPLFGTLRDGCHRLPKIKETTV

• Structural information:
  • Protein Domains: (33..6-)
    (/note="WW-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00224-)
    (78..15-)
    (/note="PDZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (204..51-)
    (/note="FERM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00084"-)
  • Interpro: IPR019749  IPR014352  IPR035963  IPR019748  IPR000299   IPR041779  IPR001478  IPR036034  IPR011993  IPR029071  IPR001202  
  • Prosite: PS50057 PS50106 PS50020
  • CDD: cd14473 cd13183 cd00201
  • PDB: 4WND 4WNE 4WNF 4WNG
  • PDBsum: 4WND 4WNE 4WNF 4WNG
  • STRING: ENSP00000370057
• Other Databases: GeneCards:  FRMPD4  Malacards:  FRMPD4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043197	dendritic spine	IBA	cellular component
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IBA	molecular function
GO:0043197	dendritic spine	IDA	cellular component
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IDA	molecular function
GO:0051835	positive regulation of synapse structural plasticity	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0098974	postsynaptic actin cytoskeleton organization	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
X-linked mental retardation	KEGG:H00480
X-linked mental retardation	KEGG:H00480
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq