• Gene id: 57595

Gene Summary

• Gene Symbol: PDZD4   Gene   UCSC   Ensembl
• Aliases: LNX5, LU1, PDZK4, PDZRN4L
• Gene name: PDZ domain containing 4
• Alternate names: PDZ domain-containing protein 4, PDZ domain-containing RING finger protein 4-like protein,
• Gene location: Xq28 (153830886: 153802165)     Exons: 10     NC_000023.11
• OMIM: 300634

Protein Summary

• Protein general information: Q76G19  
  • Name: PDZ domain containing protein 4 (PDZ domain containing RING finger protein 4 like protein)
  • Length: 769  
  • Mass: 86171
  • Tissue specificity: Brain-specific. Expressed in fetal and adult brain. Up-regulated in synovial carcinomas. {ECO
• Sequence:

  MGCNMCVVQKPEEQYKVMLQVNGKELSKLSQEQTLQALRSSKEPLVIQVLRRSPRLRGDSSCHDLQLVDSGTQTD
  ITFEHIMALGKLRPPTPPMVILEPPPISHEYYDPAEFMEGGPQEADRLDELEYEEVELYKSSHRDKLGLMVCYRT
  DDEEDLGIYVGEVNPNSIAAKDGRIREGDRIIQINGVDVQNREEAVAILSQEENTNISLLVARPESQLAKRWKDS
  DRDDFLDDFGSENEGELRARKLKSPPAQQPGNEEEKGAPDAGPGLSNSQELDSGVGRTDESTRNEESSEHDLLGD
  EPPSSTNTPGSLRKFGLQGDALQSRDFHFSMDSLLAEGAGLGGGDVPGLTDEEYERYRELLEIKCHLENGNQLGL
  LFPRASGGNSALDVNRNESLGHEMAMLEEELRHLEFKCRNILRAQKMQQLRERCMKAWLLEEESLYDLAASEPKK
  HELSDISELPEKSDKDSTSAYNTGESCRSTPLLVEPLPESPLRRAMAGNSNLNRTPPGPAVATPAKAAPPPGSPA
  KFRSLSRDPEAGRRQHAEERGRRNPKTGLTLERVGPESSPYLSRRHRGQGQEGEHYHSCVQLAPTRGLEELGHGP
  LSLAGGPRVGGVAAAATEAPRMEWKVKVRSDGTRYVAKRPVRDRLLKARALKIREERSGMTTDDDAVSEMKMGRY
  WSKEERKQHLIRAREQRKRREFMMQSRLECLREQQNGDSKPELNIIALSHRKTMKKRNKKILDNWITIQEMLAHG
  ARSADGKRVYNPLLSVTTV

• Structural information:
  • Protein Domains: (130..21-)
    (/note="PDZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143"-)
  • Interpro: IPR001478  IPR036034  
  • Prosite: PS50106
  • STRING: ENSP00000164640
• Other Databases: GeneCards:  PDZD4  Malacards:  PDZD4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IEA	cellular component
GO:0005938	cell cortex	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq