KEGG   Homo sapiens (human): 2059Help
Entry
2059              CDS       T01001                                 

Gene name
EPS8, DFNB102
Definition
(RefSeq) epidermal growth factor receptor pathway substrate 8
  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]
    2059 (EPS8)
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    2059 (EPS8)
Membrane trafficking [BR:hsa04131]
 Autophagy
  Chaperone mediated autophagy (CMA)
   Selective cargos
    2059 (EPS8)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of epithelial cells
   2059 (EPS8)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: PTB SAM_3 SH3_1 SH3_9 SH3_2 PID SH3_3 SAM_PNT
Motif
Other DBs
NCBI-GeneID: 2059
NCBI-ProteinID: NP_004438
OMIM: 600206
HGNC: 3420
Ensembl: ENSG00000151491
Vega: OTTHUMG00000168787
Pharos: Q12929(Tbio)
UniProt: Q12929 B4E3T6
Structure
PDB: 

Position
12p12.3
AA seq 822 aa AA seqDB search
MNGHISNHPSSFGMYPSQMNGYGSSPTFSQTDREHGSKTSAKALYEQRKNYARDSVSSVS
DISQYRVEHLTTFVLDRKDAMITVDDGIRKLKLLDAKGKVWTQDMILQVDDRAVSLIDLE
SKNELENFPLNTIQHCQAVMHSCSYDSVLALVCKEPTQNKPDLHLFQCDEVKANLISEDI
ESAISDSKGGKQKRRPDALRMISNADPSIPPPPRAPAPAPPGTVTQVDVRSRVAAWSAWA
ADQGDFEKPRQYHEQEETPEMMAARIDRDVQILNHILDDIEFFITKLQKAAEAFSELSKR
KKNKKGKRKGPGEGVLTLRAKPPPPDEFLDCFQKFKHGFNLLAKLKSHIQNPSAADLVHF
LFTPLNMVVQATGGPELASSVLSPLLNKDTIDFLNYTVNGDERQLWMSLGGTWMKARAEW
PKEQFIPPYVPRFRNGWEPPMLNFMGATMEQDLYQLAESVANVAEHQRKQEIKRLSTEHS
SVSEYHPADGYAFSSNIYTRGSHLDQGEAAVAFKPTSNRHIDRNYEPLKTQPKKYAKSKY
DFVARNNSELSVLKDDILEILDDRKQWWKVRNASGDSGFVPNNILDIVRPPESGLGRADP
PYTHTIQKQRMEYGPRPADTPPAPSPPPTPAPVPVPLPPSTPAPVPVSKVPANITRQNSS
SSDSGGSIVRDSQRHKQLPVDRRKSQMEEVQDELIHRLTIGRSAAQKKFHVPRQNVPVIN
ITYDSTPEDVKTWLQSKGFNPVTVNSLGVLNGAQLFSLNKDELRTVCPEGARVYSQITVQ
KAALEDSSGSSELQEIMRRRQEKISAAASDSGVESFDEGSSH
NT seq 2469 nt NT seq  +upstreamnt  +downstreamnt
atgaatggtcatatttctaatcatcccagtagttttggaatgtacccatctcagatgaat
ggctacggatcatcacctaccttttcccagacggacagagaacatggttcaaaaacaagt
gcaaaggccctttatgaacaaaggaagaattatgcacgggacagtgtcagcagtgtgtca
gatatatctcaataccgtgttgaacacttgactacctttgtcctggatcggaaagatgct
atgatcactgttgatgatggaataaggaaattgaaattgcttgatgccaagggcaaagtg
tggactcaagatatgattcttcaagtggatgacagagctgtgagcctgattgatttagaa
tcaaagaatgaactggagaattttcctttaaacacaatccagcactgccaagctgtgatg
cattcatgcagctatgattcagttcttgcactggtgtgcaaagagccaacccagaacaag
ccagatcttcatctcttccagtgtgatgaggttaaggcaaacctaattagtgaagatatt
gaaagtgcaatcagtgacagtaaaggagggaaacagaagaggcggcccgacgccctgagg
atgatttccaatgcagaccctagtataccgcctccacccagagctcctgcccctgcgccc
cctgggaccgtcacccaggtggatgttagaagtcgagtggcagcctggtctgcatgggca
gccgaccaaggggactttgagaaaccaaggcagtatcatgagcaggaagaaacacctgag
atgatggcagcccgcattgacagagatgtgcaaatcttaaaccacattttggatgacatt
gaattttttatcacaaaactccaaaaagcagcagaagcattttctgagctttctaaaagg
aagaaaaacaagaaaggtaaaaggaaaggaccaggagagggtgttttaacgctgcgggca
aaacctccacctcctgatgaatttcttgactgtttccaaaagtttaaacacggatttaac
cttctggccaaactgaagtctcatattcagaatcctagtgctgcagatttggttcacttt
ttgtttactccattaaatatggtggtgcaggcaacaggaggtcctgaactagccagttca
gtacttagtcccctattgaataaggacacaattgatttcttaaattatactgtcaatggt
gatgaacggcagctgtggatgtcattgggaggaacttggatgaaagccagagcagagtgg
ccaaaagaacagtttattccaccatatgttccacgattccgcaatggctgggagccccca
atgctgaactttatgggagccacaatggaacaagatctttatcaactggcagaatctgtg
gcaaatgtagcagaacatcagcgcaaacaggaaataaaaagattatccacagagcattcc
agtgtatcagagtatcatccagccgatggctatgcgttcagtagcaacatttacacaaga
ggatcccacctggaccaaggggaagctgctgttgcttttaagccaacttctaatcgccat
atagatagaaattatgaaccactcaaaacacaacccaagaaatatgccaaatccaagtat
gactttgtagcaaggaacaacagtgagctctcggttctaaaggatgatattttagagata
cttgatgatcggaagcaatggtggaaagttcgaaatgcaagtggagactctggatttgtg
ccaaataacattttggatattgtgagacctccagaatctggattggggcgtgctgatcca
ccttatactcatactatacagaaacaaaggatggagtatggcccaagaccagctgatact
ccccctgctccatcacctcctccaacaccagctcctgttcctgttccccttcccccttcc
actccagcacctgttcctgtgtcaaaggtcccagcaaatataacacgtcaaaacagcagc
tccagtgacagtggtggcagtatcgtgcgagacagccagagacacaaacaacttccggtg
gaccgaaggaaatctcagatggaggaagtgcaagatgaactcatccacagactgaccatt
ggtcggagtgccgctcagaagaaattccatgtgccacggcagaacgtgccagttatcaat
atcacttacgactccacaccagaggatgtgaagacgtggttacagtcaaagggattcaac
cctgtgactgtcaatagtcttggagtattaaatggtgcacaacttttctctctcaataag
gatgaactgaggacagtctgccctgaaggggcgagagtctatagccaaatcactgtacaa
aaagctgcattggaggatagcagtggcagctccgagttacaagaaattatgagaagacga
caggaaaaaatcagtgctgccgctagtgattcaggagtggaatcttttgatgaaggaagc
agtcactaa

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