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Ask your administrator if you think this is wrong. ======= PDZD7 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: PDZD7 * **<color #00a2e8>Official Name</color>**: PDZ domain containing 7 * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=79955|79955]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9H5P4|Q9H5P4]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=PDZD7&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20PDZD7|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/612971|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: 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 different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]. * **<color #00a2e8>UniProt Summary</color>**: N/A <button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> |PDZ| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |USH2 complex| |stereocilia ankle link| |stereocilia ankle link complex| |auditory receptor cell stereocilium organization| |detection of mechanical stimulus involved in sensory perception of sound| |auditory receptor cell morphogenesis| |stereocilium tip| |auditory receptor cell development| |inner ear auditory receptor cell differentiation| |inner ear receptor cell stereocilium organization| |detection of mechanical stimulus involved in sensory perception| |stereocilium| |hair cell differentiation| |photoreceptor connecting cilium| |inner ear receptor cell development| |neuroepithelial cell differentiation| |detection of mechanical stimulus| |columnar/cuboidal epithelial cell development| |photoreceptor inner segment| |inner ear receptor cell differentiation| |mechanoreceptor differentiation| |columnar/cuboidal epithelial cell differentiation| |inner ear morphogenesis| |ear morphogenesis| |detection of external stimulus| |detection of abiotic stimulus| |sensory perception of sound| |sensory perception of mechanical stimulus| |epithelial cell development| |inner ear development| |cilium| |response to mechanical stimulus| |ear development| |sensory organ morphogenesis| |embryonic organ morphogenesis| |epidermal cell differentiation| |epidermis development| |cell morphogenesis involved in neuron differentiation| |embryonic organ development| |protein heterodimerization activity| |detection of stimulus involved in sensory perception| |sensory organ development| |cell morphogenesis involved in differentiation| |embryonic morphogenesis| |neuron projection development| |epithelial cell differentiation| |detection of stimulus| |cell morphogenesis| |neuron development| |cellular component morphogenesis| |protein homodimerization activity| |animal organ morphogenesis| |sensory perception| |embryo development| |neuron differentiation| |epithelium development| |plasma membrane bounded cell projection organization| |cell projection organization| |response to abiotic stimulus| |nervous system process| |generation of neurons| |extracellular space| |establishment of protein localization| |neurogenesis| |cell development| |tissue development| |system process| </modal> \\ === CRISPR Data === <button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> ^Screen^Score^ |[[:results:exp210|LB-100 2μM R05 exp210]]|-1.87| |[[:results:exp510|Nicotine 3000μM R08 exp510]]|-1.78| |[[:results:exp191|Hypoxia 5%O2 R04 exp191]]|-1.77| |[[:results:exp450|Artemisinin 50μM R08 exp450]]|1.75| |[[:results:exp256|HMS-I1 10μM R06 exp256]]|1.9| |[[:results:exp406|Thalidomide 20μM R07 exp406]]|1.93| </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> No correlation found to any other genes in chemogenomics. </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 17188 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 3.17 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='PDZD7 Expression in NALM6 Cells: 3.17'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2026/01/07 22:36by 127.0.0.1