EPS8L2
entrez
64787
canonical
uniprot
Q9H6S3
canonical
ensembl
ENSG00000177106
resolver
ensp
ENSP00000320828
resolver
ensp
ENSP00000526525
resolver
ensp
ENSP00000526526
resolver
genesymbol
EPS8L2
resolver
genesymbol_syn
EPS8R2
resolver
hgnc
HGNC:21296
resolver
uniprot
B3KSX1
resolver
uniprot
B7ZKL3
resolver
uniprot
Q53GM8
resolver
uniprot
Q8WYW7
resolver
uniprot
Q96K06
resolver
uniprot
Q9H6K9
resolver
uniprot_entry
ES8L2_HUMAN
resolver
uniprot_sec
B3KSX1
resolver
uniprot_sec
B7ZKL3
resolver
uniprot_sec
Q53GM8
resolver
uniprot_sec
Q8WYW7
resolver
uniprot_sec
Q96K06
resolver
uniprot_sec
Q9H6K9
resolver
amino_acid_sequence
MSQSGAVSCCPGATNGSLGRSDGVAKMSPKDLFEQRKKYSNSNVIMHETSQYHVQHLATFIMDKSEAITSVDDAIRKLVQLSSKEKIWTQEMLLQVNDQSLRLLDIESQEELEDFPLPTVQRSQTVLNQLRYPSVLLLVCQDSEQSKPDVHFFHCDEVEAELVHEDIESALADCRLGKKMRPQTLKGHQEKIRQRQSILPPPQGPAPIPFQHRGGDSPEAKNRVGPQVPLSEPGFRRRESQEEPRAVLAQKIEKETQILNCALDDIEWFVARLQKAAEAFKQLNQRKKGKKKGKKAPAEGVLTLRARPPSEGEFIDCFQKIKLAINLLAKLQKHIQNPSAAELVHFLFGPLDLIVNTCSGPDIARSVSCPLLSRDAVDFLRGHLVPKEMSLWESLGESWMRPRSEWPREPQVPLYVPKFHSGWEPPVDVLQEAPWEVEGLASAPIEEVSPVSRQSIRNSQKHSPTSEPTPPGDALPPVSSPHTHRGYQPTPAMAKYVKILYDFTARNANELSVLKDEVLEVLEDGRQWWKLRSRSGQAGYVPCNILGEARPEDAGAPFEQAGQKYWGPASPTHKLPPSFPGNKDELMQHMDEVNDELIRKISNIRAQPQRHFRVERSQPVSQPLTYESGPDEVRAWLEAKAFSPRIVENLGILTGPQLFSLNKEELKKVCGEEGVRVYSQLTMQKAFLEKQQSGSELEELMNKFHSMNQRRGEDS
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal recessive, 106 (DFNB106) [MIM:617637]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:26282398, ECO:0000269|PubMed:28281779}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Stimulates guanine exchange activity of SOS1. May play a role in membrane ruffling and remodeling of the actin cytoskeleton. In the cochlea, is required for stereocilia maintenance in adult hair cells (By similarity). {ECO:0000250|UniProtKB:Q99K30, ECO:0000269|PubMed:14565974}.
uniprot
proteins
mass_dalton
80621
uniprot
proteins
protein_family
EPS8 family
uniprot
proteins
pubmed
12620401
uniprot
proteins
pubmed
14565974
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15498874
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26282398
uniprot
proteins
pubmed
28281779
uniprot
proteins
sequence_length
715
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14565974}. Cell projection, stereocilium {ECO:0000250|UniProtKB:Q99K30}. Note=Localizes at the tips of the stereocilia of the inner and outer hair cells. {ECO:0000250|UniProtKB:Q99K30}.
uniprot
proteins