KEGG   Homo sapiens (human): 340990
Entry
340990            CDS       T01001                                 
Symbol
OTOG, DFNB18B, MLEMP, OTGN
Name
(RefSeq) otogelin
  KO
K25030  otogelin
Organism
hsa  Homo sapiens (human)
Disease
H00605  Deafness, autosomal recessive
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    340990 (OTOG)
Cilium and associated proteins [BR:hsa03037]
 Other cilia and associated proteins
  Stereociliary proteins
   340990 (OTOG)
SSDB
Motif
Pfam: VWD C8 TIL AbfB VWC Pacifastin_I
Other DBs
NCBI-GeneID: 340990
NCBI-ProteinID: NP_001264198
OMIM: 604487
HGNC: 8516
Ensembl: ENSG00000188162
Pharos: Q6ZRI0(Tdark)
UniProt: Q6ZRI0
Position
11:17547259..17646044
AA seq 2925 aa
MGVLASALCWLLCVWLPWGEQAAESLRVQRLGERVVDSGRSGARGMRNVKGMRNGPAQTR
VSSSSSHQEATLAMGDKATVVGGQQAEAPDSVAMSSWERRLHRAKCAPSYLFSCFNGGEC
VHPAFCDCRRFNATGPRCQMVYNAGPERDSICRAWGQHHVETFDGLYYYLSGKGSYTLVG
RHEPEGQSFSIQVHNDPQCGSSPYTCSRAVSLFFVGEQEIHLAKEVTHGGMRVQLPHVMG
SARLQQLAGYVIVRHQSAFTLAWDGASAVYIKMSPELLGWTHGLCGNNNADPKDDLVTSS
GKLTDDVVEFVHSWQEQAPNQPPGPTTSSLPRPPCLQQNPGTMQGVYEQCEALLRPPFDA
CHAYVSPLPFTASCTSDLCQSMGDVATWCRALAEYARACAQAGRPLQGWRTQLRQCTVHC
KEKAFTYNECIACCPASCHPRASCVDSEIACVDGCYCPNGLIFEDGGCVAPAECPCEFHG
TLYPPGSVVKEDCNTCTCTSGKWECSTAVCPAECSVTGDIHFTTFDGRRYTFPATCQYIL
AKSRSSGTFTVTLQNAPCGLNQDGACVQSVSVILHQDPRRQVTLTQAGDVLLFDQYKIIP
PYTDDAFEIRRLSSVFLRVRTNVGVRVLYDREGLRLYLQVDQRWVEDTVGLCGTFNGNTQ
DDFLSPVGVPESTPQLFGNSWKTLSACSPLVSGSPLDPCDVHLQAASYSVQACSVLTGEM
FAPCSAFLSPVPYFEQCRRDACRCGQPCLCATLAHYAHLCRRHGLPVDFRARLPACALSC
EASKEYSPCVAPCGRTCQDLASPEACGVDGGDDLSRDECVEGCACPPDTYLDTQADLCVP
RNQCSCHFQGVDYPPGDSDIPSLGHCHCKDGVMSCDSRAPAAACPAGQVFVNCSDLHTDL
ELSRERTCEQQLLNLSVSARGPCLSGCACPQGLLRHGDACFLPEECPCTWKGKEYFPGDQ
VMSPCHTCVCQRGSFQCTLHPCASTCTAYGDRHYRTFDGLPFDFVGACKVHLVKSTSDVS
FSVIVENVNCYSSGMICRKFISINVGNSLIVFDDDSGNPSPESFLDDKQEVHTWRVGFFT
LVHFPQEHITLLWDQRTTVHVQAGPQWQGQLAGLCGNFDLKTINEMRTPENLELTNPQEF
GSSWAAVECPDTLDPRDMCVLNPLREPFAKKECSILLSEVFEICHPVVDVTWFYSNCLTD
TCGCSQGGDCECFCASVSAYAHQCCQHGVAVDWRTPRLCPYDCDFFNKVLGKGPYQLSSL
AAGGALVGMKAVGDDIVLVRTEDVAPADIVSFLLTAALYKAKAHDPDVVSLEAADRPNFF
LHVTANGSLELAKWQGRDTFQQHASFLLHRGTRQAGLVALESLAKPSSFLYVSGAVLALR
LYEHTEVFRRGTLFRLLDAKPSGAAYPICEWRYDACASPCFQTCRDPRAASCRDVPRVEG
CVPVCPTPQVLDEVTQRCVYLEDCVEPAVWVPTEALGNETLPPSQGLPTPSDEEPQLSQE
SPRTPTHRPALTPAAPLTTALNPPVTATEEPVVSPGPTQTTLQQPLELTASQLPAGPTES
PASKGVTASLLAIPHTPESSSLPVALQTPTPGMVSGAMETTRVTVIFAGSPNITVSSRSP
PAPRFPLMTKAVTVRGHGSLPVRTTPPQPSLTASPSSRPVASPGAISRSPTSSGSHKAVL
TPAVTKVISRTGVPQPTQAQSASSPSTPLTVAGTAAEQVPVSPLATRSLEIVLSTEKGEA
GHSQPMGSPASPQPHPLPSAPPRPAQHTTMATRSPALPPETPAAASLSTATDGLAATPFM
SLESTRPSQLLSGLPPDTSLPLAKVGTSAPVATPGPKASVITTPLQPQATTLPAQTLSPV
LPFTPAAMTQAHPPTHIAPPAAGTAPGLLLGATLPTSGVLPVAEGTASMVSVVPRKSTTG
KVAILSKQVSLPTSMYGSAEGGPTELTPATSHPLTPLVAEPEGAQAGTALPVPTSYALSR
VSARTAPQDSMLVLLPQLAEAHGTSAGPHLAAEPVDEATTEPSGRSAPALSIVEGLAEAL
ATTTEANTSTTCVPIAEQDCVRHICLEGQLIRVNQSQHCPQGAAPPRCGILGLAVRVGGD
RCCPLWECACRCSIFPDLSFVTFDGSHVALFKEAIYILSQSPDEMLTVHVLDCKSANLGH
LNWPPFCLVMLNMTHLAHQVTIDRFNRKVTVDLQPVWPPVSRYGFRIEDTGHMYMILTPS
DIQIQWLHSSGLMIVEASKTSKAQGHGLCGICDGDAANDLTLKDGSVVGGAEDPAPFLDS
WQVPSSLTSVGQTRFRPDSCATTDCSPCLRMVSNRTFSACHRFVPPESFCELWIRDTKYV
QQPCVALTVYVAMCHKFHVCIEWRRSDYCPFLCSSDSTYQACVTACEPPKTCQDGILGPL
DPEHCQVLGEGCVCSEGTILHRRHSALCIPEAKCACTDSMGVPRALGETWNSSLSGCCQH
QCQAPDTIVPVDLGCPSPRPESCLRFGEVALLLPTKDPCCLGTVCVCNQTLCEGLAPTCR
PGHRLLTHFQEDSCCPSYSCECDPDLCEAELVPSCRQDQILITGRLGDSCCTSYFCACGD
CPDSIPECQEGEALTVHRNTTELCCPLYQCVCENFRCPQVQCGLGTALVEVWSPDRCCPY
KSCECDCDTIPVPRCHLWEKSQLDEEFMHSVENVCGCAKYECVKAPVCLSRELGVMQPGQ
TVVELSADGVCHTSRCTTVLDPLTNFYQINTTSVLCDIHCEANQEYEHPRDLAACCGSCR
NVSCLFTFPNGTTSLFLPGASWIADCARHHCSSTPLGAVLVRSPISCPPLNETECAKVGG
SVVPSLEGCCRTCKEDGRSCKKVTIRMTIRKNECRSSTPVNLVSCDGRCPSASIYNYNIN
TYARFCKCCREVGLQRRSVQLFCATNATWVPYTVQEPTDCACQWS
NT seq 8778 nt   +upstreamnt  +downstreamnt
atgggagtcctggcgtctgcgctctgctggctgctttgtgtctggctgccctggggtgag
caggcagccgagtccctgcgggtgcagcgcctcggtgagagggttgtggactcagggagg
tcgggggctcgaggaatgagaaacgttaaaggaatgaggaatgggcccgcgcagactcgt
gtttcctccagcagcagccaccaggaggcgacccttgccatgggggacaaggctacagtc
gtgggaggccagcaggctgaagccccagactccgtggccatgtcttcctgggaaaggcgg
ctccatcgggccaagtgtgcaccatcctacttgttctcctgcttcaatggaggcgagtgt
gtgcacccagccttctgtgactgcagacgcttcaatgccactggaccgcgctgccagatg
gtgtacaatgccggccctgagagggacagcatttgccgggcgtgggggcagcaccacgtg
gagacatttgatgggctctactactacctctccggaaagggcagctacaccctggtgggt
cgccatgagcccgagggacagagcttctccatccaggtacacaatgacccgcagtgtggc
tcttcaccctacacctgctccagggctgtcagcctcttctttgtgggtgagcaggagatc
catctggccaaggaggtcacccatggaggcatgagggtccaactgccacatgtcatgggg
agcgcgcgtctgcagcagcttgccggctatgtcatcgtgcggcatcagtcagccttcaca
ctggcctgggatggtgcctcggctgtctacatcaagatgagtccagagcttctgggctgg
acccatgggctgtgtgggaacaacaatgctgaccccaaggatgatctggtgaccagctct
gggaagctgactgacgacgtggttgagtttgtgcacagctggcaggagcaggcccctaac
cagcctccagggcccacaacttcctccctgcctcgcccaccgtgcctacagcagaaccca
ggaaccatgcagggcgtgtacgagcagtgtgaggctctactgcggcccccctttgacgcc
tgccacgcctacgtcagccctctgcccttcacagccagttgtaccagtgatctctgccaa
tcaatgggtgatgtagccacctggtgccgggcactggcggagtatgcccgggcgtgtgcc
caggcagggcggcccttgcaaggctggaggacccagctccggcaatgcactgtgcactgc
aaggagaaggcctttacctacaatgagtgcatcgcctgctgccctgcctcctgccatccc
cgggcatcctgtgtggacagtgagatcgcctgtgtggacggctgctattgccccaatggg
ctcatcttcgaggatgggggctgcgtggcaccagctgagtgtccctgtgagtttcacggg
actctgtacccacctggctctgtggtgaaggaagactgcaatacttgcacatgcacctca
ggcaagtgggagtgcagcacagctgtctgcccagctgagtgctcagtgactggtgacatt
cacttcacaacctttgatggccgccggtacacgttccccgccacatgtcagtacatcctg
gccaagagccgctcttcgggcaccttcaccgtgacattgcagaatgccccatgtggcctg
aaccaagatggagcctgtgtccagtcagtgtcagtgattctgcaccaggaccctcggagg
caggtgaccctgacccaggcaggggatgtccttctgtttgaccagtacaagatcatcccg
ccatacacagatgatgcctttgagatccgtaggctgtcctccgtgttcctgcgggtgagg
acgaacgtgggcgtgcgggtgctctacgaccgtgaagggctccgactgtacctgcaagtg
gaccagcgatgggtggaggataccgtgggcctctgcggcaccttcaatggcaacacgcag
gatgacttcctgtctccagtgggtgtacctgagagcaccccacaactttttggcaattcc
tggaaaacactttctgcttgctccccgctggtctctggctcccctctggacccctgcgat
gtgcacctgcaagccgcctcctactcagtgcaggcctgcagcgtgctcacgggggagatg
tttgcgccctgctctgcgttcctgagccccgtgccctactttgagcagtgccgcagggat
gcctgccgctgcgggcagccctgcctgtgcgccacactggcccactacgcccacctgtgc
cggcgccatgggctccccgttgatttccgcgcccgcctgccagcctgtgcactgtcctgt
gaggcctccaaggagtatagcccctgcgtggccccgtgtggacgtacctgccaggacctg
gccagccctgaggcctgtggggttgatggtggcgatgacctgagcagagacgagtgtgtg
gagggctgtgcctgcccaccggacacctatctggacacccaggctgacctctgtgtcccc
cggaaccagtgctcctgccacttccagggagtggactatccccccggagacagtgacatc
ccatccctgggccactgccactgcaaagatggagtcatgagctgtgatagcagagcccca
gctgctgcctgcccagcaggccaggtcttcgtgaactgcagcgacctgcacacggacctg
gagctgagcagggagaggacgtgtgagcagcaactgctgaacctgagcgtgtcagcccgt
ggcccctgcctctcgggctgcgcctgtccccagggtctgctcagacacggggatgcatgt
ttcctgccagaggagtgcccctgcacttggaaggggaaggagtatttccctggggaccag
gtgatgtctccttgccatacctgtgtgtgccagcggggctcattccagtgcaccctgcac
ccttgcgcctccacctgcactgcctatggggaccggcattaccgcacgtttgatgggctc
ccgtttgacttcgtgggggcatgcaaagtgcacctggtcaagagcacatcagatgtcagc
ttctctgtgattgtagagaatgtgaactgctacagctctggcatgatctgcaggaaattt
atttccatcaacgttgggaactcactcattgtctttgatgatgactccggaaatcctagt
ccagagagcttcctggatgacaagcaggaggtccacacatggcgagtgggatttttcaca
ctggtgcatttcccacaggagcacatcaccctcttgtgggaccagagaaccacagtgcac
gtccaggctgggcctcagtggcagggccagctggcgggcctctgtgggaactttgactta
aaaaccatcaatgagatgaggaccccggagaacctagagctaactaacccccaggagttt
ggcagcagttgggctgcagttgagtgcccagacaccctcgatcctcgggatatgtgtgtc
ctgaatcctctccgagaaccatttgccaagaaggagtgcagcatcctgctcagtgaggtg
tttgagatctgccaccctgtggttgatgtcacttggttttactcaaactgcctgacagac
acatgtggctgcagccagggtggtgactgtgagtgcttctgtgccagcgtctccgcttat
gcccaccagtgttgccagcatggggtggctgttgactggcgaaccccccgcctctgcccg
tatgactgtgacttctttaacaaagtgctaggtaagggcccctatcagctatccagcttg
gcagccggtggtgctctggtgggcatgaaggcggtgggcgatgacatagtcctagtgagg
acagaggatgtggcgccagcagacattgtgagcttcctgctgacagctgctctgtacaag
gccaaggcccatgacccagatgtggtgtccctggaggcagcagacagacccaacttcttc
cttcacgtcacagccaacgggtctctggagctggctaagtggcagggccgtgacaccttc
caacagcatgcctccttcttgctgcaccgggggacacggcaggcaggcctggtggccctg
gagtccctggccaagcccagctccttcctctatgtgtcgggcgcggtgctggccctgcgg
ctgtacgaacacacagaggtgttccgccggggcacactcttccgccttctggatgccaag
ccctcgggggctgcctaccccatctgcgagtggcgctacgatgcctgtgccagcccctgc
ttccaaacctgccgggacccacgggcagccagctgccgggacgtacccagggtagaaggc
tgtgtccctgtgtgccccaccccccaggtcctggatgaagtcacacagagatgtgtctac
ttggaggactgtgtggagccagcagtttgggttcccacagaggcccttggcaatgagacc
ctccctcccagtcaagggttgcccactcccagtgatgaggagccacagctgtcacaggaa
agccccaggacccccacccacaggccagccctcaccccagctgccccactcaccacagcc
ctgaacccaccagtgacagccactgaggagccagtggtgtctccaggccccacccagacc
accctgcagcagccactggagctcactgcatctcaactccccgccggccccacggagtcc
ccagccagcaagggagtgactgccagcctcctggccatcccccatacaccagagtcctca
tccctccctgttgcactgcagacacccacacctggcatggtgtcaggtgccatggagaca
acaagggtgactgtgatctttgcaggaagccctaacatcacagtctcctcccggtcgccc
cctgcccctcgcttcccgctcatgaccaaggctgtgacagtccgaggccatggctccttg
cctgttaggacgacacccccacagccctccttgacagcaagtccctcctccagacctgtg
gcttcccctggagccatctccaggtcccccacctcctcgggatcccacaaggctgtgctg
acacctgcagtaactaaggtcataagcaggacaggggtcccccagcccacccaggcccag
agtgcttcaagtcccagcacccctctaactgtggctggaacagcagcagaacaggttcct
gtcagtccccttgcaaccaggagcttggagatagtgctatccacagagaagggcgaagcc
gggcacagccagcccatgggctcgcctgcctccccacagccacacccactcccctctgca
ccaccccgcccagcccagcataccaccatggccaccaggtctccagctctgcccccagag
accccagctgccgccagcctgtcaacagccactgatgggctggcagccacacccttcatg
tcccttgagtcaactcgtccctcccagctcctctctggcctgcctcccgacaccagcctg
cccctggccaaggtgggcacatctgccccagtggccacacccggccccaaagcctctgtc
atcaccactccactccagccacaggccacgactctgcctgctcagacacttagcccagta
ctgcctttcactccagcagcaatgacccaggcgcacccacccactcacatagcaccccca
gcagcaggcacagctccaggcctgctgctgggagccacattgccaacctctggagtcctg
cctgtggctgagggcacggcctccatggtatctgttgtcccacgaaagagcaccacaggg
aaggtggccatcctatccaagcaagtgtctctgcccacttccatgtatggttctgcagag
ggtgggcccacagagctcacgcctgctacgagccaccctctcacgcccttggtggctgag
cccgagggagcccaggcaggcacagctctgccagtgcccacatcctatgccctgagccgt
gtctcagccaggacggccccccaagacagcatgctggttctgttgcctcagctggctgag
gcccatggaacctcggcagggcctcacctggcagcagagccggtggacgaggccaccaca
gaaccatctgggcgctcagccccagccctgagcatcgtagagggtttggcggaggctttg
gcaactaccactgaggccaatacatccaccacctgtgttccaatcgccgagcaggactgc
gtccgccacatctgcctggagggccagctgattcgcgtgaatcagtcccagcactgtccc
cagggtgctgctccccctcgctgtgggatcctgggcctcgccgtgcgggtgggtggggac
cgctgctgcccactctgggagtgtgcctgccggtgctcaatcttccctgacctgagcttc
gtgaccttcgatgggagccacgtagctctgttcaaggaggccatctacatcctcagccag
agcccagatgaaatgctcaccgtccatgtactggactgcaaaagtgccaacctggggcac
ctgaactggcccccgttctgtctggtgatgttgaacatgactcacttggcccatcaggtc
actattgatcgcttcaaccgaaaggtgactgtggacttgcagcctgtgtggccaccggtg
agcaggtatggattcagaattgaggacacaggccacatgtacatgatcctgactccctca
gacatccagatccagtggctccacagctcaggactcatgatcgtggaggccagcaaaacc
agcaaggcccagggccatggcctgtgcggtatctgtgatggagatgcagccaatgacctt
accctgaaggatggctcagtggtgggtggggctgaggaccctgctccctttctggacagc
tggcaggtgcccagctccctgacctcagtgggccagacccgcttccgcccagacagctgc
gccacaactgactgctcgccctgccttcgcatggtgtccaaccgcaccttcagtgcctgc
caccgctttgtgcctccggagtcattctgtgagctgtggatccgggacaccaagtacgtg
cagcagccctgcgtggccctgactgtgtacgtggccatgtgccacaaatttcatgtgtgc
atcgagtggcggcgctctgactactgccccttcctgtgctccagcgactccacataccag
gcatgtgtgacagcctgtgagccacccaagacatgccaggatgggatactagggcctctg
gacccagagcactgccaggtgctgggcgagggctgcgtctgctccgagggcaccatctta
caccggcgccactctgcactctgcatcccggaggccaagtgcgcctgcactgacagcatg
ggggtgccgagggccctgggggagacctggaacagctccctcagcggctgctgccagcac
cagtgccaagccccagacaccattgtcccggtggatctgggctgccccagtccccgccct
gagagctgcctgcgattcggggaggtggccttgctcctacccaccaaggacccctgctgc
ctggggactgtctgtgtgtgtaaccagactctgtgtgagggtctcgcccccacatgccgc
ccaggccaccgcctcctcacccacttccaggaggactcctgctgccccagctacagctgt
gagtgtgacccagatctctgtgaggcagagctggtccccagctgccgacaggaccagatc
ctgatcacgggccgcctgggggactcctgctgcacctcctacttctgcgcctgtggtgac
tgtccagactccatccccgaatgtcaagaaggggaggcgctcactgtgcacaggaatacc
acggaactctgctgccctctgtaccagtgtgtgtgtgagaacttccgctgtccccaagtg
cagtgtggcctgggcactgccctggtggaggtgtggagccccgaccgctgctgcccctac
aaatcctgtgaatgtgactgtgacacaatcccggtgccccggtgccatctgtgggagaaa
tcccagctggatgaggagttcatgcacagcgtggagaatgtgtgtggctgcgccaagtac
gagtgtgtgaaggccccggtgtgtctgagccgcgagctgggtgtgatgcagcccggccag
acagtggtggagctctcagcagatggcgtgtgccacacctcccgctgcaccaccgtgctc
gaccctctcaccaacttctaccagatcaacaccacctccgtgctctgtgacatccactgt
gaggcgaaccaggagtacgagcacccgcgggacctcgctgcctgctgcggctcctgcagg
aacgtgtcctgtctcttcaccttccccaatggcaccacctccctgttcttgcccggggca
tcctggatcgcagactgcgcccgccaccactgcagcagcacgcccctgggtgccgtgctg
gtccgctctcccataagctgcccaccgctcaatgagactgagtgtgccaaggttgggggt
tccgtggtaccttccttggaaggatgctgcaggacctgtaaggaggatgggcgctcctgc
aagaaggtgaccatccgcatgaccatccgcaagaatgaatgcaggagcagcacccctgtg
aacctagtgtcctgcgatgggaggtgcccatccgccagcatctacaactacaacatcaac
acctatgcccgattctgcaagtgctgccgtgaggtgggcctgcagcggcgctctgtgcag
ctcttctgtgccaccaatgccacctgggtgccctatacagtgcaggagcccaccgactgt
gcctgccagtggtcctga

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