======= ESPN ======= == Gene Information == * **Official Symbol**: ESPN * **Official Name**: espin * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=83715|83715]] * **UniProt**: [[https://www.uniprot.org/uniprot/B1AK53|B1AK53]] * **Interactions**: [[https://thebiogrid.org/search.php?search=ESPN&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ESPN|Open PubMed]] * **OMIM**: [[https://omim.org/entry/606351|Open OMIM]] == Function Summary == * **Entrez Summary**: This gene encodes a multifunctional actin-bundling protein. It plays a major role in regulating the organization, dimensions, dynamics, and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in various mechanosensory and chemosensory cells. Mutations in this gene are associated with autosomal recessive neurosensory deafness, and autosomal dominant sensorineural deafness without vestibular involvement. [provided by RefSeq, Nov 2009]. * **UniProt Summary**: Multifunctional actin-bundling protein. Plays a major role in regulating the organization, dimension, dynamics and signaling capacities of the actin filament-rich microvilli in the mechanosensory and chemosensory cells. Required for the assembly and stabilization of the stereociliary parallel actin bundles. Plays a crucial role in the formation and maintenance of inner ear hair cell stereocilia. Involved in the elongation of actin in stereocilia. In extrastriolar hair cells, required for targeting MYO3B to stereocilia tips, and for regulation of stereocilia diameter and staircase formation. {ECO:0000250|UniProtKB:Q9ET47}. |Ank| |Ank 2| |parallel actin filament bundle assembly| |stereocilium tip| |positive regulation of filopodium assembly| |filamentous actin| |regulation of filopodium assembly| |brush border| |actin filament bundle assembly| |microvillus| |actin filament bundle organization| |positive regulation of plasma membrane bounded cell projection assembly| |SH3 domain binding| |negative regulation of cytoskeleton organization| |sensory perception of sound| |sensory perception of mechanical stimulus| |locomotory behavior| |regulation of plasma membrane bounded cell projection assembly| |regulation of cell projection assembly| |actin filament binding| |actin filament organization| |negative regulation of organelle organization| |positive regulation of cell projection organization| |supramolecular fiber organization| |actin cytoskeleton organization| |positive regulation of cellular component biogenesis| |regulation of cytoskeleton organization| |actin filament-based process| |behavior| |regulation of plasma membrane bounded cell projection organization| |negative regulation of cellular component organization| |regulation of cell projection organization| |regulation of cellular component biogenesis| |sensory perception| |cytoskeleton organization| |positive regulation of cellular component organization| |regulation of organelle organization| |nervous system process| |system process| \\ === CRISPR Data === No hits were found. ^Gene^Correlation^ |[[:human genes:g:golga6l1|GOLGA6L1]]|0.404| Global Fraction of Cell Lines Where Essential: 2/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|1/28| |bone|0/26| |breast|1/33| |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**: 2956 * **Expression level (log2 read counts)**: -2.96 {{:chemogenomics:nalm6 dist.png?nolink |}}