InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PDZD7

Summary

InnateDB Protein

IDBP-86907.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PDZD7

Protein Name

PDZ domain containing 7

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000359234

InnateDB Gene

IDBG-86901 (PDZD7)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Cell projection, cilium {ECO:0000269PubMed:20440071}. Nucleus {ECO:0000269PubMed:20440071}.

Disease Associations

Note=A chromosomal aberration disrupting PDZD7 has been found in patients with non-syndromic sensorineural deafness. Translocation t(10;11),t(10;11).Usher syndrome 2C (USH2C) [MIM:605472]: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. PDZD7 mutations have been found in combination with mutations in USH2A and GPR98 in patients affected by Usher syndrome, suggesting a role as contributor to digenic Usher syndrome or a modifier of retinal disease expression.

Tissue Specificity

Weakly expressed in the inner ear. Expressed in the retinal pigment epithelium. {ECO:0000269PubMed:19028668, ECO:0000269PubMed:20440071}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function