Homo sapiens (human): 340990 Help 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) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  VWD C8 TIL VWF AbfB Pacifastin_I VWC Motif Other DBs NCBI-GeneID:  340990 NCBI-ProteinID:  NP_001264198 OMIM:  604487 HGNC:  8516 Ensembl:  ENSG00000188162 UniProt:  Q6ZRI0 LinkDB All DBs Position 11:17547259..17646044 Genome browser AA seq 2925 aa AA seqDB search 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 NT seq  +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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