KEGG   Homo sapiens (human): 64787
Entry
64787             CDS       T01001                                 
Symbol
EPS8L2, DFNB106, EPS8R2
Name
(RefSeq) EPS8 signaling adaptor L2
  KO
K17277  epidermal growth factor receptor kinase substrate 8
Organism
hsa  Homo sapiens (human)
Disease
H00605  Deafness, autosomal recessive
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    64787 (EPS8L2)
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    64787 (EPS8L2)
   04147 Exosome [BR:hsa04147]
    64787 (EPS8L2)
Membrane trafficking [BR:hsa04131]
 Autophagy
  Chaperone mediated autophagy (CMA)
   Selective cargos
    64787 (EPS8L2)
Cilium and associated proteins [BR:hsa03037]
 Other cilia and associated proteins
  Stereociliary proteins
   64787 (EPS8L2)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of epithelial cells
   64787 (EPS8L2)
SSDB
Motif
Pfam: PTB SAM_3 SH3_1 SH3_2 SH3_9 PID SH3_3 SAM_PNT
Other DBs
NCBI-GeneID: 64787
NCBI-ProteinID: NP_073609
OMIM: 614988
HGNC: 21296
Ensembl: ENSG00000177106
UniProt: Q9H6S3
Structure
Position
11:706231..727727
AA seq 715 aa
MSQSGAVSCCPGATNGSLGRSDGVAKMSPKDLFEQRKKYSNSNVIMHETSQYHVQHLATF
IMDKSEAITSVDDAIRKLVQLSSKEKIWTQEMLLQVNDQSLRLLDIESQEELEDFPLPTV
QRSQTVLNQLRYPSVLLLVCQDSEQSKPDVHFFHCDEVEAELVHEDIESALADCRLGKKM
RPQTLKGHQEKIRQRQSILPPPQGPAPIPFQHRGGDSPEAKNRVGPQVPLSEPGFRRRES
QEEPRAVLAQKIEKETQILNCALDDIEWFVARLQKAAEAFKQLNQRKKGKKKGKKAPAEG
VLTLRARPPSEGEFIDCFQKIKLAINLLAKLQKHIQNPSAAELVHFLFGPLDLIVNTCSG
PDIARSVSCPLLSRDAVDFLRGHLVPKEMSLWESLGESWMRPRSEWPREPQVPLYVPKFH
SGWEPPVDVLQEAPWEVEGLASAPIEEVSPVSRQSIRNSQKHSPTSEPTPPGDALPPVSS
PHTHRGYQPTPAMAKYVKILYDFTARNANELSVLKDEVLEVLEDGRQWWKLRSRSGQAGY
VPCNILGEARPEDAGAPFEQAGQKYWGPASPTHKLPPSFPGNKDELMQHMDEVNDELIRK
ISNIRAQPQRHFRVERSQPVSQPLTYESGPDEVRAWLEAKAFSPRIVENLGILTGPQLFS
LNKEELKKVCGEEGVRVYSQLTMQKAFLEKQQSGSELEELMNKFHSMNQRRGEDS
NT seq 2148 nt   +upstreamnt  +downstreamnt
atgagccagtccggggccgtgagctgctgcccgggtgccaccaatggcagcctgggccgg
tccgacggtgtggccaagatgagccccaaggacctgtttgagcagaggaagaagtattcc
aactccaacgtcatcatgcacgagacctcgcagtaccacgtccagcacctggccacattc
atcatggacaagagcgaagccatcacgtctgtggacgacgccatccggaagctggtgcag
ctgagctccaaggagaagatctggacccaggagatgctgctgcaggtgaacgaccagtcg
ctgcggctgctggacatcgagtcacaggaggagctggaagacttcccgctgcccacggtg
cagcgcagccagacggtcctcaaccagctgcgctacccgtctgtgctgctgctcgtgtgc
caggactcggagcagagcaagccggatgtccacttcttccactgcgatgaggtggaggca
gagctggtgcacgaggacatcgagagcgcgttggccgactgccggctgggcaagaagatg
cggccgcagaccctgaagggacaccaggagaagattcggcagcggcagtccatcctgcct
cctccccagggcccggcgcccatccccttccagcaccgcggcggggattccccggaggcc
aagaatcgcgtgggcccgcaggtgccactcagcgagccaggtttccgccgtcgggagtcg
caggaggagccgcgggccgtgctggctcagaagatagagaaggagacgcaaatcctcaac
tgcgccctggacgacatcgagtggtttgtggcccggctgcagaaggcagccgaggctttc
aagcagctgaaccagcggaaaaaggggaagaagaagggcaagaaggcgccagcagagggc
gtcctcacactgcgggcacggcccccctctgagggcgagttcatcgactgcttccagaaa
atcaagctggcgattaacttgctggcaaagctgcagaagcacatccagaaccccagcgcc
gcggagctcgtgcacttcctcttcgggcctctggacctgatcgtcaacacctgcagtggc
ccagacatcgcacgctccgtctcctgcccactgctctcccgagatgccgtggacttcctg
cgcggccacctggtccctaaggagatgtcgctgtgggagtcactgggagagagctggatg
cggccccgttccgagtggccgcgggagccacaggtgcccctctacgtgcccaagttccac
agcggctgggagcctcctgtggatgtgctgcaggaggccccctgggaggtggaggggctg
gcgtctgcccccatcgaggaggtgagtccagtgagccgacagtccataagaaactcccag
aagcacagccccacttcagagcccacccccccgggggatgccctaccaccagtcagctcc
ccacatactcacaggggctaccagccaacaccagccatggccaagtacgtcaagatcctg
tatgacttcacagcccgaaatgccaacgagctatcggtgctcaaggatgaggtcctagag
gtgctggaggacggccggcagtggtggaagctgcgcagccgcagcggccaggcggggtac
gtgccctgcaacatcctaggcgaggcgcgaccggaggacgccggcgccccgttcgagcag
gccggtcagaagtactggggccccgccagcccgacccacaagctacccccaagcttcccg
gggaacaaagacgagctcatgcagcacatggacgaggtcaacgacgagctcatccggaaa
atcagcaacatcagggcgcagccacagaggcacttccgcgtggagcgcagccagcccgtg
agccagccgctcacctacgagtcgggtccggacgaggtccgcgcctggctggaagccaag
gccttcagcccgcggatcgtggagaacctgggcatcctgaccgggccgcagctcttctcc
ctcaacaaggaggagctgaagaaagtgtgcggcgaggagggcgtccgcgtgtacagccag
ctcaccatgcagaaggccttcctggagaagcagcaaagtgggtcggagctggaagaactc
atgaacaagtttcattccatgaatcagaggaggggggaggacagctag

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