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Details on Person UniProt:Q99K30 Eps8l2
| Class:Id | ReferenceGeneProduct:228504 |
|---|---|
| _chainChangeLog | chain:1-729 added on Sat February 7 2015 |
| _displayName | UniProt:Q99K30 Eps8l2 |
| _timestamp | 2023-11-03 16:56:17 |
| chain | chain:1-729 |
| checksum | A11DE82FF2C0BD18 |
| comment | FUNCTION Stimulates guanine exchange activity of SOS1. May play a role in membrane ruffling and remodeling of the actin cytoskeleton (By similarity). In the cochlea, is required for stereocilia maintenance in adult hair cells (PubMed:23918390).SUBUNIT Interacts with ABI1. Part of a complex that contains SOS1, ABI1 and EPS8L2. Associates with F-actin (By similarity).SUBCELLULAR LOCATION Localizes at the tips of the stereocilia of the inner and outer hair cells.ALTERNATIVE PRODUCTS Detected in fetal kidney, adrenal gland, salivary gland, stomach, gut, cartilage and skin. Detected in adult ovary, placenta, skin, adrenal gland, salivary gland, kidney, intestine and stomach. Expressed at the tips of cochlear hair cells stereocilia (PubMed:23918390).DISRUPTION PHENOTYPE Mutant animal have a progressive and severe hearing loss at young adulthood (PubMed:23918390). The generation of receptor potentials in hair cells at lower sound pressure is impaired, which leads to a reduction in auditory nerve responses (PubMed:23918390).SIMILARITY Belongs to the EPS8 family. |
| created | [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53 |
| description | recommendedName: Epidermal growth factor receptor kinase substrate 8-like protein 2 shortName: EPS8-like protein 2 alternativeName: Epidermal growth factor receptor pathway substrate 8-related protein 2 shortName: EPS8-related protein 2 |
| geneName | Eps8l2 Eps8r2 |
| identifier | Q99K30 |
| isSequenceChanged | FALSE |
| keyword | Alternative splicing Cell projection Cytoplasm Phosphoprotein Reference proteome SH3 domain |
| modified | [InstanceEdit:354386] Schmidt, EE, 2008-06-18 04:45:12 [InstanceEdit:384350] Kanapin, AA, 2008-11-26 14:00:39 [InstanceEdit:392885] Kanapin, AA, 2009-03-09 12:07:18 [InstanceEdit:400710] Schmidt, EE, 2009-03-25 05:33:35 [InstanceEdit:423310] Kanapin, AA [InstanceEdit:435478] Kanapin, AA [InstanceEdit:435871] Kanapin, AA [InstanceEdit:447347] Kanapin, AA [InstanceEdit:525883] Kanapin, AA [InstanceEdit:613449] Kanapin, AA [InstanceEdit:797602] Kanapin, AA [InstanceEdit:937368] Yung, CK [InstanceEdit:1042053] Yung, CK [InstanceEdit:1220657] Yung, CK [InstanceEdit:1300696] Yung, CK [InstanceEdit:1301627] Yung, CK [InstanceEdit:1551960] Weiser, JD [InstanceEdit:1995863] Weiser, JD [InstanceEdit:2132304] Weiser, JD [InstanceEdit:2265580] Weiser, JD [InstanceEdit:5433710] Weiser, JD [InstanceEdit:5618415] Weiser, JD [InstanceEdit:5634237] Weiser, JD [InstanceEdit:5673015] Weiser, JD [InstanceEdit:9037114] Weiser, JD [InstanceEdit:9637257] Weiser, JD [InstanceEdit:9657908] Weiser, JD [InstanceEdit:9676415] Weiser, JD [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 |
| name | Eps8l2 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| secondaryIdentifier | ES8L2_MOUSE Q91VT7 |
| sequenceLength | 729 |
| species | [Species:48892] Mus musculus |
| (isoformParent) | [ReferenceIsoform:228505] UniProt:Q99K30-2 Eps8l2 [Mus musculus] [ReferenceIsoform:413211] UniProt:Q99K30-1 Eps8l2 [Mus musculus] |
| (referenceEntity) | [EntityWithAccessionedSequence:9663257] Eps8l2 [cytosol] [Mus musculus] |
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No pathways have been reviewed or authored by UniProt:Q99K30 Eps8l2 (228504)
