Pdzd7 - PDZ domain containing 7 Gene

Also Known as Pdzk7; EG435601; 9130207N01

Species: Mus musculus

Gene Type: protein coding
Gene ID: 100503041

Summary

Enables identical protein binding activity. Acts upstream of or within auditory receptor cell stereocilium organization; detection of mechanical stimulus involved in sensory perception of sound; and establishment of protein localization. Located in stereocilia ankle link and stereocilium. Part of USH2 complex and stereocilia ankle link complex. Human ortholog(s) of this gene implicated in Usher syndrome type 2A; Usher syndrome type 2C; and autosomal recessive nonsyndromic deafness 57. Orthologous to human PDZD7 (PDZ domain containing 7). [provided by Alliance of Genome Resources, Apr 2022]

Pdzd7 Products (1)

mRNA Protein Name
NM_001195265.1 NP_001182194.1 PDZ domain-containing protein 7

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
25406310 MGI
enables protein binding IPI
IPI: Inferred from physical interaction
19028668 MGI
Biological Process GO Annotation Evidence References Source
acts upstream of or within auditory receptor cell development IMP
IMP: Inferred from mutant phenotype
24334608 MGI
acts upstream of or within auditory receptor cell stereocilium organization IMP
IMP: Inferred from mutant phenotype
24334608 MGI
acts upstream of or within detection of mechanical stimulus involved in sensory perception of sound IMP
IMP: Inferred from mutant phenotype
24334608 MGI
acts upstream of or within establishment of localization in cell IMP
IMP: Inferred from mutant phenotype
24334608 MGI
acts upstream of or within establishment of protein localization IMP
IMP: Inferred from mutant phenotype
24334608 MGI
Cellular Component GO Annotation Evidence References Source
part of USH2 complex IDA
IDA: Inferred from direct assay
25406310 MGI
part of USH2 complex IPI
IPI: Inferred from physical interaction
25406310 MGI
located in stereocilia ankle link IDA
IDA: Inferred from direct assay
24334608 MGI
part of stereocilia ankle link complex IDA
IDA: Inferred from direct assay
27525485 MGI
located in stereocilium IDA
IDA: Inferred from direct assay
27525485 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

PDZ domain-containing protein 7

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS10303 PDZD7 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22718 Pdzd7 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS29232 Pdzd7 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Pdzd7 NCBI NCBI:79955