• Gene id: 79955

Gene Summary

• Gene Symbol: PDZD7   Gene   UCSC   Ensembl
• Aliases: DFNB57, PDZK7
• Gene name: PDZ domain containing 7
• Alternate names: PDZ domain-containing protein 7, deafness, autosomal recessive 57,
• Gene location: 10q24.31 (101031156: 101007678)     Exons: 20     NC_000010.11
• Gene summary(Entrez): This gene encodes a ciliary protein homologous to proteins which are mutated in Usher syndrome patients, and mutations and translocations involving this gene have been associated with two types of Usher syndrome. Multiple transcript variants encoding diff
• OMIM: 617656

Protein Summary

• Protein general information: Q9H5P4  
  • Name: PDZ domain containing protein 7
  • Length: 1033  
  • Mass: 111752
  • Tissue specificity: Weakly expressed in the inner ear. Expressed in the retinal pigment epithelium. {ECO
• Sequence:

  MAQGFAVGFDPLGLGDLSSGSLSSLSSRGHLGSDSGSTATRYLLRKQQRLLNGPPRGIRASSPMGRVILINSPIE
  ANSDESDIIHSVRVEKSPAGRLGFSVRGGSEHGLGIFVSKVEEGSSAERAGLCVGDKITEVNGLSLESTTMGSAV
  KVLTSSSRLHMMVRRMGRVPGIKFSKEKTTWVDVVNRRLVVEKCGSTPSDTSSEDGVRRIVHLYTTSDDFCLGFN
  IRGGKEFGLGIYVSKVDHGGLAEENGIKVGDQVLAANGVRFDDISHSQAVEVLKGQTHIMLTIKETGRYPAYKEM
  VSEYCWLDRLSNGVLQQLSPASESSSSVSSCASSAPYSSGSLPSDRMDICLGQEEPGSRGPGWGRADTAMQTEPD
  AGGRVETWCSVRPTVILRDTAIRSDGPHPGRRLDSALSESPKTALLLALSRPRPPITRSQSYLTLWEEKQQRKKE
  KSGSPGEKGALQRSKTLMNLFFKGGRQGRLARDGRREAWTLDSGSLAKTYPRLDIEKAGGVGPVQKFVTWRLRRD
  QERGRALLSARSGSPSSQLPNVDEQVQAWESRRPLIQDLAQRLLTDDEVLAVTRHCSRYVHEGGIEDLVRPLLAI
  LDRPEKLLLLQDIRSVVAPTDLGRFDSMVMLVELEAFEALKSRAVRPPALRPARQDTPPKRHLITPVPDSRGGFY
  LLPVNGFPEEEDNGELRERLGALKVSPSASAPRHPHKGIPPLQDVPVDAFTPLRIACTPPPQLPPVAPRPLRPNW
  LLTEPLSREHPPQSQIRGRAQSRSRSRSRSRSRSSRGQGKSPGRRSPSPVPTPAPSMTNGRYHKPRKARPPLPRP
  LDGEAAKVGAKQGPSESGTEGTAKEAAMKNPSGELKTVTLSKMKQSLGISISGGIESKVQPMVKIEKIFPGGAAF
  LSGALQAGFELVAVDGENLEQVTHQRAVDTIRRAYRNKAREPMELVVRVPGPSPRPSPSDSSALTDGGLPADHLP
  AHQPLDAAPVPAHWLPEPPTNPQTPPTDARLLQPTPSPAPSPALQTPDSKPAPSPRIP

• Structural information:
  • Protein Domains: (86..16-)
    (/note="PDZ-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (210..29-)
    (/note="PDZ-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (862..93-)
    (/note="PDZ-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143"-)
  • Interpro: IPR001478  IPR036034  IPR042786  
  • Prosite: PS50106
  • CDD: cd07358
  • PDB: 2EEH
  • PDBsum: 2EEH
  • STRING: ENSP00000480489
• Other Databases: GeneCards:  PDZD7  Malacards:  PDZD7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001917	photoreceptor inner segment	IBA	colocalizes with
GO:0002141	stereocilia ankle link	IBA	cellular component
GO:0002142	stereocilia ankle link complex	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0007605	sensory perception of sound	IBA	biological process
GO:0032391	photoreceptor connecting cilium	IBA	colocalizes with
GO:0032420	stereocilium	IBA	cellular component
GO:0032426	stereocilium tip	IBA	cellular component
GO:0060088	auditory receptor cell stereocilium organization	IBA	biological process
GO:0005929	cilium	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0060117	auditory receptor cell development	ISS	biological process
GO:0060088	auditory receptor cell stereocilium organization	ISS	biological process
GO:0050910	detection of mechanical stimulus involved in sensory perception of sound	ISS	biological process
GO:0002141	stereocilia ankle link	ISS	cellular component
GO:0045184	establishment of protein localization	ISS	biological process
GO:0032420	stereocilium	ISS	cellular component
GO:0002142	stereocilia ankle link complex	ISS	cellular component
GO:0002141	stereocilia ankle link	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0002141	stereocilia ankle link	IEA	cellular component
GO:0002142	stereocilia ankle link complex	IEA	cellular component
GO:0032420	stereocilium	IEA	cellular component
GO:0042802	identical protein binding	IEA	molecular function
GO:0045184	establishment of protein localization	IEA	biological process
GO:0050910	detection of mechanical stimulus involved in sensory perception of sound	IEA	biological process
GO:0060088	auditory receptor cell stereocilium organization	IEA	biological process
GO:0060117	auditory receptor cell development	IEA	biological process
GO:1990696	USH2 complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0032420	stereocilium	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005615	extracellular space	HDA	cellular component

Diseases

Associated diseases	References
Usher syndrome	KEGG:H00779
Usher syndrome	KEGG:H00779
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