======= SPATA7 ======= == Gene Information == * **Official Symbol**: SPATA7 * **Official Name**: spermatogenesis associated 7 * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=55812|55812]] * **UniProt**: [[https://www.uniprot.org/uniprot/Q9P0W8|Q9P0W8]] * **Interactions**: [[https://thebiogrid.org/search.php?search=SPATA7&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20SPATA7|Open PubMed]] * **OMIM**: [[https://omim.org/entry/609868|Open OMIM]] == Function Summary == * **Entrez Summary**: This gene, originally isolated from testis, is also expressed in retina. Mutations in this gene are associated with Leber congenital amaurosis and juvenile retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]. * **UniProt Summary**: Involved in photoreceptor cells maintenance (By similarity). It is required for recruitment and proper localization of RPGRIP1 to the photoreceptor connecting cilium (CC), as well as protein trafficking across the CC to the outer segments (By similarity). {ECO:0000250|UniProtKB:Q80VP2}. No Pfam Domain information is available for this gene. |protein localization to photoreceptor connecting cilium| |protein localization to photoreceptor outer segment| |protein localization to ciliary transition zone| |protein localization to non-motile cilium| |photoreceptor cell maintenance| |photoreceptor connecting cilium| |protein localization to cilium| |photoreceptor outer segment| |retina homeostasis| |axoneme| |ciliary basal body| |microtubule cytoskeleton| |tissue homeostasis| |visual perception| |sensory perception of light stimulus| |multicellular organismal homeostasis| |anatomical structure homeostasis| |protein localization to organelle| |sensory perception| |mitochondrion| |nervous system process| |cellular protein localization| |cellular macromolecule localization| |homeostatic process| |system process| \\ === CRISPR Data === ^Screen^Score^ |[[:results:exp52|Ribavirin 10μM R01 exp52]]|-2.05| |[[:results:exp302|35°C R06 exp302]]|1.77| |[[:results:exp75|MK-1775 0.32μM R02 exp75]]|1.95| No correlation found to any other genes in chemogenomics. 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| == Essentiality in NALM6 == * **Essentiality Rank**: 16621 * **Expression level (log2 read counts)**: 2.37 {{:chemogenomics:nalm6 dist.png?nolink |}}