Homo sapiens (human): 2059
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Entry
2059 CDS
T01001
Symbol
EPS8, DFNB102
Name
(RefSeq) EGFR pathway substrate 8, signaling adaptor
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
03037 Cilium and associated proteins [BR:
hsa03037
]
2059 (EPS8)
04147 Exosome [BR:
hsa04147
]
2059 (EPS8)
Membrane trafficking [BR:
hsa04131
]
Autophagy
Chaperone mediated autophagy (CMA)
Selective cargos
2059 (EPS8)
Cilium and associated proteins [BR:
hsa03037
]
Other cilia and associated proteins
Stereociliary proteins
2059 (EPS8)
Exosome [BR:
hsa04147
]
Exosomal proteins
Exosomal proteins of epithelial cells
2059 (EPS8)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
PTB
EPS8_2nd
SAM_3
SH3_1
SH3_2
SH3_9
PID
IRS
SH3_3
SAM_PNT
Motif
Other DBs
NCBI-GeneID:
2059
NCBI-ProteinID:
NP_004438
OMIM:
600206
HGNC:
3420
Ensembl:
ENSG00000151491
UniProt:
Q12929
B4E3T6
Structure
PDB
PDBj
LinkDB
All DBs
Position
12:complement(15620134..15789388)
Genome browser
AA seq
822 aa
AA seq
DB search
MNGHISNHPSSFGMYPSQMNGYGSSPTFSQTDREHGSKTSAKALYEQRKNYARDSVSSVS
DISQYRVEHLTTFVLDRKDAMITVDDGIRKLKLLDAKGKVWTQDMILQVDDRAVSLIDLE
SKNELENFPLNTIQHCQAVMHSCSYDSVLALVCKEPTQNKPDLHLFQCDEVKANLISEDI
ESAISDSKGGKQKRRPDALRMISNADPSIPPPPRAPAPAPPGTVTQVDVRSRVAAWSAWA
ADQGDFEKPRQYHEQEETPEMMAARIDRDVQILNHILDDIEFFITKLQKAAEAFSELSKR
KKNKKGKRKGPGEGVLTLRAKPPPPDEFLDCFQKFKHGFNLLAKLKSHIQNPSAADLVHF
LFTPLNMVVQATGGPELASSVLSPLLNKDTIDFLNYTVNGDERQLWMSLGGTWMKARAEW
PKEQFIPPYVPRFRNGWEPPMLNFMGATMEQDLYQLAESVANVAEHQRKQEIKRLSTEHS
SVSEYHPADGYAFSSNIYTRGSHLDQGEAAVAFKPTSNRHIDRNYEPLKTQPKKYAKSKY
DFVARNNSELSVLKDDILEILDDRKQWWKVRNASGDSGFVPNNILDIVRPPESGLGRADP
PYTHTIQKQRMEYGPRPADTPPAPSPPPTPAPVPVPLPPSTPAPVPVSKVPANITRQNSS
SSDSGGSIVRDSQRHKQLPVDRRKSQMEEVQDELIHRLTIGRSAAQKKFHVPRQNVPVIN
ITYDSTPEDVKTWLQSKGFNPVTVNSLGVLNGAQLFSLNKDELRTVCPEGARVYSQITVQ
KAALEDSSGSSELQEIMRRRQEKISAAASDSGVESFDEGSSH
NT seq
2469 nt
NT seq
+upstream
nt +downstream
nt
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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