Homo sapiens (human): 23312 Help Entry 23312             CDS       T01001                                  Symbol DMXL2, DEE81, DFNA71, EIEE81, PEPNS, RC3 Name (RefSeq) Dmx like 2   KO K24155   rabconnectin-3a Organism hsa  Homo sapiens (human) Pathway hsa04142   Lysosome Disease H00604   Deafness, autosomal dominant H00606   Early infantile epileptic encephalopathy Brite KEGG Orthology (KO) [BR:hsa00001]  09140 Cellular Processes   09141 Transport and catabolism    04142 Lysosome     23312 (DMXL2)  09180 Brite Hierarchies   09182 Protein families: genetic information processing    04131 Membrane trafficking [BR:hsa04131]     23312 (DMXL2) Membrane trafficking [BR:hsa04131]  Exocytosis   Small GTPases and associated proteins    Rab associated proteins     23312 (DMXL2)  Endosome - Lysosome transport   Acidification regulators    Rabconnectin-3 complex     23312 (DMXL2)    RAVE complex     23312 (DMXL2) BRITE hierarchy SSDB OrthologParalogGFIT Motif Pfam:  Rav1p_C WD40_Prp19 Beta-prop_THOC3 WD40 Beta-prop_WDR3_1st Beta-prop_WDR5 WD40_CDC20-Fz Beta-prop_WDR36-Utp21_1st WD40_WDHD1_1st Beta-prop_EML_2 Beta-prop_TEP1_2nd Beta-prop_WDR90_POC16_2nd Beta-prop_IFT140_1st Beta-prop_WDR3_2nd WDR55 WD40_Gbeta Beta-prop_CAF1B_HIR1 Beta-prop_HPS5 EIF3I ANAPC4_WD40 Beta-prop_WDR36-Utp21_2nd WD40_MABP1-WDR62_2nd Beta-prop_EML Beta-prop_Vps41 Beta-prop_VPS8 Beta-prop_DCAF4 Beta-prop_WDR19_1st Beta-prop_LRRK2 Beta-prop_DCAF12 Beta-prop_WDR75_1st Beta-prop_RIG_1st Beta-prop_SPT8 Motif Other DBs NCBI-GeneID:  23312 NCBI-ProteinID:  NP_056078 OMIM:  612186 HGNC:  2938 Ensembl:  ENSG00000104093 UniProt:  Q8TDJ6 LinkDB All DBs Position 15:complement(51447791..51622771) Genome browser AA seq 3036 aa AA seqDB search MHLHQVLTGAVNPGDNCYSVGSVGDVPFTAYGSGCDIVILANDFECVQIIPGAKHGNIQV SCVECSNQQGRIAASYGNAVCIFEPLGINSHKRNCQLKCQWLKTGQFFLSSVTYNLAWDP QDNRLLTATDSIQLWAPPGDDILEEEEEIDNTVPPVLNDWKCVWQCKTSVSVHLMEWSPD GEYFATAGKDDCLLKVWYPMTGWKSSIIPQDHHEVKRRQSSTQFSFVYLAHPRAVTGFSW RKTSKYMPRGSVCNVLLTSCHDGVCRLWAETLLPEDCLLGEQICETTTSSIASSLSHAGR HKDRIQHALETIHHLKNLRKGQRRSSVLVTHAELMPDQTAMHEVQRHISHHANALCHFHI AASINPATDIPNVLVGTAFNVDDGNGGFVVHWLNNKEFHFTSSTEVFMHQLRKLSDKQVD HENDDADREDEEHSQEDRERGLHMKLDHDLSLDRESEAGTGSSEHEDGEREGSPRTYSRL SVPMPLPTVLLDRKIETLLTEWNKNPDMLFTIHPVDGTFLVWHVKYLDEYNPGIFRQVQV SFSSRIPVAFPSGDASSLSKNIMMYACINATKDSHHTLLHQEGMSVGSPHGSQPHSRSHS THMNILAPTVMMISKHIDGSLNQWAVTFADKSAFTTVLTVSHKFRYCGHRFHLNDLACHS VLPLLLTSSHHNALLTPELDCQWDSDNKLSRLMDPVKHIKGSSKQPLRNAATRTFHDPNA IYSELILWRVDPIGPLSYTGGVSELARINSLHTSAFSNVAWLPTLIPSYCLGTYCNSASA CFVASDGKNLRLYQAVVDARKLLDELSDPESSKLIGEVFNIVSQQSTARPGCIIELDAIT NQCGSNTQLLHVFQEDFIIGYKPHKEDMEKKETEIFFQPSQGYRPPPFSEKFFLVVIEKD SNNNSILHMWHLHLKSVQACLAKASEGASSESLLSVPGQKNVDSSPETSPSVSPMPHSSS IANLQTASKLILSSRLVYSQPLDLPESVEVIRATPSAGHLSSSSIYPVCLAPYLVVTTCS DNKVRFWKCCMEANPECNKSDEKEIYHWKRWPLMNDEGEDNSSTVSIVGRPVAVSCSYTG RLAVAYKQPIHHNGFVSKEFSMHVCIFECESTGGSEWVLEQTIHLDDLVKVGSVLDSRVS VDSNLFVYSKSDALLSKDRYLIPNIKHLVHLDWVSKEDGSHILTVGVGANIFMYGRLSGI VTEQTNSKDGVAVITLPLGGSIKQGVKSRWVLLRSIDLVSSVDGTPSLPVSLSWVRDGIL VVGMDCEMHVYAQWKHAVKFGDTEADSSNAEEAAMQDHSTFKSNMLARKSVVEGTAISDD VFCSPTVIQDGGLFEAAHVLSPTLPQYHPTQLLELMDLGKVRRAKAILSHLVKCIAGEVA IVRDPDAGEGTKRHLSRTISVSGSTAKETVTVGKDGTRDYTEIDSIPPLPLYALLAADQD TSYRISEESTKIPQSYEDQTVSQPEDQYSELFQIQDIPTDDIDLEPEKRENKSKVINLSQ YGPAYFGQEHARVLSSHLMHSSLPGLTRLEQMFLVALADTVATTSTELDESRDKSCSGRD TLDECGLRYLLAMRLHTCLLTSLPPLYRVQLLHQGVSTCHFAWAFHSEAEEELINMIPAI QRGDPQWSELRAMGIGWWVRNINTLRRCIEKVAKASFQRNNDALDAALFYLSMKKKAVVW GLFRSQHDEKMTTFFSHNFNEDRWRKAALKNAFSLLGKQRFEQSAAFFLLAGSLKDAIEV CLEKMEDIQLAMVIARLYESEFETSSTYISILNQKILGCQKDGSGFSCKRLHPDPFLRSL AYWVMKDYTRALDTLLEQTPKEDDEHQVIIKSCNPVAFSFYNYLRTHPLLIRRNLASPEG TLATLGLKTEKNFVDKINLIERKLFFTTANAHFKVGCPVLALEVLSKIPKVTKTSALSAK KDQPDFISHRMDDVPSHSKALSDGNGSSGIEWSNVTSSQYDWSQPIVKVDEEPLNLDWGE DHDSALDEEEDDAVGLVMKSTDAREKDKQSDQKASDPNMLLTPQEEDDPEGDTEVDVIAE QLKFRACLKILMTELRTLATGYEVDGGKLRFQLYNWLEKEIAALHEICNHESVIKEYSSK TYSKVESDLLDQEEMVDKPDIGSYERHQIERRRLQAKREHAERRKSWLQKNQDLLRVFLS YCSLHGAQGGGLASVRMELKFLLQESQQETTVKQLQSPLPLPTTLPLLSASIASTKTVIA NPVLYLNNHIHDILYTIVQMKTPPHPSIEDVKVHTLHSLAASLSASIYQALCDSHSYSQT EGNQFTGMAYQGLLLSDRRRLRTESIEEHATPNSSPAQWPGVSSLINLLSSAQDEDQPKL NILLCEAVVAVYLSLLIHALATNSSSELFRLAAHPLNNRMWAAVFGGGVKLVVKPRRQSE NISAPPVLSEDIDKHRRRFNMRMLVPGRPVKDATPPPVPAERPSYKEKFIPPELSMWDYF VAKPFLPLSDSGVIYDSDESIHSDEEDDAFFSDTQIQEHQDPNSYSWALLHLTMVKLALH NVKNFFPIAGLEFSELPVTSPLGIAVIKNLENWEQILQEKMDQFEGPPPNYINTYPTDLS VGAGPAILRNKAMLEPENTPFKSRDSSAFPVKRLWHFLVKQEVLQETFIRYIFTKKRKQS EVEADLGYPGGKAKVIHKESDMIMAFSVNKANCNEIVLASTHDVQELDVTSLLACQSYIW IGEEYDRESKSSDDVDYRGSTTTLYQPSATSYSASQVHPPSSLPWLGTGQTSTGASVLMK RNLHNVKRMTSHPVHQYYLTGAQDGSVRMFEWTRPQQLVCFRQAGNARVTRLYFNSQGNK CGVADGEGFLSIWQVNQTASNPKPYMSWQCHSKATSDFAFITSSSLVATSGHSNDNRNVC LWDTLISPGNSLIHGFTCHDHGATVLQYAPKQQLLISGGRKGHVCIFDIRQRQLIHTFQA HDSAIKALALDPYEEYFTTGSAEGNIKVWRLTGHGLIHSFKSEHAKQSIFRNIGAGVMQI DIIQGNRLFSCGADGTLKTRVLPNAFNIPNRILDIL NT seq 9111 nt NT seq  +upstreamnt  +downstreamnt atgcatctgcatcaggtcctcaccggagctgtcaaccctggagacaactgctactccgtg ggcagcgtcggggatgtccccttcacggcatatggatcaggctgtgatattgttattttg gcaaatgactttgaatgtgtacagatcattcctggtgctaagcatggaaacatccaagtc agctgtgtggagtgttctaaccaacaaggaagaattgcagcttcatatggtaatgctgtt tgtatatttgagcccttgggcataaattctcataaaagaaattgtcaactcaagtgccag tggcttaaaactgggcagttttttttgagttctgtgacatacaacttagcatgggatcct caagataatagattgttgacagcaactgattctattcagttgtgggctcctccaggagat gatattctggaagaggaggaagaaattgataatacagttcctcctgttttaaatgattgg aagtgtgtctggcagtgcaaaacctcagtatctgtacatttgatggaatggtctcctgat ggtgaatattttgctactgctggaaaggatgattgtcttttgaaagtgtggtatcctatg actggttggaagtcttcaattatacctcaggatcatcatgaagtaaaaaggagacagtcc tctactcaattttcttttgtttacttggcacatccccgagctgtgacaggtttttcgtgg cgcaaaactagcaagtatatgcccaggggttctgtctgtaatgtgttgttaacttcatgt catgatggtgtgtgccggctctgggcagaaactttattaccagaagactgtcttttgggt gagcagatttgtgagactaccacttccagcattgccagcagcctttctcatgctggaaga cacaaagacagaatacagcatgctcttgagacaatacaccatttgaaaaatttaaggaaa ggacagaggaggtcatctgttcttgtaactcatgctgaattaatgcccgaccagacagca atgcatgaagttcaaagacacatttcccaccatgcaaatgcactctgtcattttcatatt gcagcaagcatcaaccctgccacagatattccaaatgtcttggttggcactgcatttaat gttgatgatggaaatgggggctttgtagttcattggttaaacaacaaggaatttcatttt acatcatctacagaagtatttatgcatcaattacgaaaactttctgataagcaggtagat catgaaaatgatgatgcagatagagaagatgaggaacattcacaggaggatagagaacgg ggtttacatatgaaattagaccatgatttatccctggatagagaatctgaggcaggtaca ggatcatcagaacatgaagatggagaaagagaaggaagtcctagaacttactcacgactt agtgtaccaatgccactgcctacggttctgcttgatcggaagattgaaacgctgctaact gaatggaataagaatcctgatatgctttttacaatacaccctgtagatggtacctttcta gtgtggcatgtgaagtatttggatgaatataatcctggaatatttagacaagttcaggtt tctttttcttctcggattcctgttgcatttccctctggtgatgcaagctctcttagtaaa aatatcatgatgtatgcctgtataaatgcgacaaaagattctcaccacacgctgttacac caggaggggatgtctgtaggcagtcctcacggatcacagccacactctagatcccacagt acacatatgaacatcttagctcccacagtaatgatgatctctaaacacatagatggttct ttaaatcagtgggcagtcacttttgctgataagtctgcctttaccactgttctaactgta tctcacaaatttagatattgcggtcatcgatttcacctcaatgacctggcatgtcattca gttttaccactgttattgacatcctctcatcataatgctctattgactcctgaattagat tgtcagtgggactcagacaataaattaagtagattaatggaccctgtaaaacatataaaa ggttcctcgaaacaacctcttagaaatgcagcaactcgtacatttcatgacccaaatgca atctacagtgaacttattctgtggcgtgtagacccaataggacctttgtcatacactgga ggagtatcagaattggctcgaattaactctttacatacctcagcgttctctaatgtggct tggcttccaactctcattcccagttactgtctaggcacatactgcaattctgcaagtgct tgctttgttgcttctgatggcaaaaatctgagactctatcaagctgtagtggatgcaagg aaattattagatgaattgtcagacccagaatcttcaaaacttattggagaagtgtttaat attgtgagccaacagtctactgctcgacctggctgcattattgaactcgacgcaataacc aaccaatgtggctcaaatacacagttgcttcatgtgtttcaagaagacttcattatagga tataaaccacataaggaagatatggagaaaaaggaaacagaaatattttttcagccatca caaggataccgcccaccaccattttcagaaaagttctttctagtagtaattgagaaggac agcaataataactctattctgcatatgtggcaccttcatcttaaatctgtacaagcatgt ttagctaaagcttcagaaggggcttcctctgagagtctactttcagtccctggacagaag aacgtagattcttctccagaaacctctcctagtgtgagccccatgccacattcttcatca attgccaatcttcaaactgccagtaaacttattctgagttctagactggtgtatagccaa ccccttgatctcccagaatcagttgaagtaataagagcaacgccttcagcaggccatctg agttcttcttcaatttatccagtgtgccttgcaccttatttagtggttacaacttgttct gacaataaagtacgcttctggaaatgttgtatggaagccaacccagagtgtaataaaagt gatgagaaagaaatttatcattggaagagatggcctttgatgaatgatgaaggagaagat aatagcagtacagtgagcattgtgggaagaccagttgctgttagctgttcatacacaggt cgccttgcagtggcttataagcagcctatccaccataatggttttgtttctaaagaattt tccatgcatgtttgtatatttgaatgtgaatctacaggaggatcagagtgggttttagaa caaacaattcatcttgatgatttggttaaggttgggagtgtacttgattcaagggtcagc gtcgacagtaatctgtttgtgtatagcaagtcagatgcactcttgagcaaggatagatat cttattccgaatatcaaacatttagtacatttggactgggtatcaaaagaagatggctcc cacattcttacagtgggagtcggtgcgaatatcttcatgtatggaaggctttcaggaatt gtgactgagcaaaccaacagtaaggatggagtagctgtcatcactttaccactaggtggt agtatcaagcaaggagttaagtcaagatgggttcttcttagatctatagacttggtatct tctgttgatggtactccttcactgcctgtttctctctcttgggtaagagatgggatattg gtggtaggaatggattgtgaaatgcatgtatatgcacagtggaagcatgctgtcaaattt ggagacactgaagctgatagttctaatgcagaagaggcagcaatgcaagatcattcgacc tttaaatctaatatgctggcaagaaaaagtgttgttgaaggaacagctatttctgatgat gttttttgttcaccaactgtaattcaagatggtggcttatttgaggctgcacatgtactt tcccctactcttccacaatatcatccaactcagctgttagaattgatggatttagggaaa gtgcgaagggctaaagccattctctctcatttagtaaaatgtattgcaggtgaagtagca atagttagagatcctgatgctggagaaggaactaagcgacatctctctcgaactattagt gtaagtggcagtacagcaaaggaaacagtcaccgtaggaaaagatggtactcgagattat actgagatagattctatccctccactaccactatatgcattacttgctgcagatcaagat acatcctacagaatttcagaagaaagtacaaagataccacagagctatgaagatcagaca gtaagtcaaccagaggatcagtattcagagctgtttcaaatccaggatataccaacggat gatattgatttagagcctgaaaagagagaaaacaaatcaaaagtaataaatctttctcaa tatggaccagcttactttggccaagaacatgcaagggtactttcaagtcatcttatgcac tcaagtctaccaggccttacccgtttggagcagatgttccttgtagctttggctgataca gtggctactactagtactgagcttgatgaaagcagagataagagttgctcaggaagagat acattagatgagtgtggtttgagatacttgttagctatgcgcctacacacatgccttttg acatcgctgcctcctttataccgagtgcagctacttcatcaaggtgtctctacatgccat tttgcctgggcttttcattctgaggctgaagaagaactgattaatatgattccagcaatt cagagaggggacccccagtggtctgaattaagagctatgggcataggatggtgggtgagg aacattaacacgcttcgaagatgcattgaaaaggttgccaaagcttcttttcaaaggaac aatgatgccttagatgctgcactattctacctttcaatgaagaagaaagcagtagtgtgg ggtctgtttaggtcacagcatgatgaaaaaatgacaacatttttcagccacaactttaat gaagatagatggcgaaaagctgctttgaaaaatgctttttccttacttggaaaacaacgc tttgaacaatcggctgcttttttcttgctagctggttcattgaaagatgccatagaggta tgtcttgaaaaaatggaagatattcagctagccatggttattgcccgtttatatgaatct gaatttgagacttcatccacttatatatccatcctaaatcagaagattttgggttgccaa aaggatggctcaggattcagttgcaaaagattacatcctgatcctttcctgcgtagtctt gcctattgggtaatgaaagattacacccgagccttggacacattactggaacaaacacca aaggaggatgatgaacatcaagttatcatcaagtcttgtaacccggtggcatttagtttt tataactaccttcgaactcatcctttgctcattcgaagaaatcttgcctcccctgaagga actttggcaaccttaggtctcaaaactgagaagaactttgttgataaaattaacctcata gaaagaaaattattctttaccactgcaaatgctcattttaaagttggatgccctgtttta gccttggaggtactctccaaaattccaaaagtaaccaaaacatctgccttatctgcaaaa aaagatcagcctgacttcatttctcacaggatggatgatgtaccttcacattcaaaagct ctgagtgatggcaatggaagttctggcattgaatggtcaaatgtaacttcatcacagtat gactggagtcagccaatagtaaaagttgatgaggaacctcttaatcttgattggggtgaa gatcacgacagtgccttagatgaagaggaagacgatgctgttggtttagtgatgaaaagt acagatgccagggaaaaagataaacaatcagatcagaaggcctcagaccctaacatgtta ttaacacctcaggaagaggatgatcctgaaggtgatactgaagttgatgtgattgctgaa caactaaaattcagagcttgtttaaagatccttatgactgaattaagaacattggctaca ggttatgaagtagatggaggaaaactcagatttcaactctataactggcttgaaaaggaa attgctgccttgcatgagatatgtaatcatgaatcagttattaaagagtattccagtaag acatattccaaagtagagagtgatctgctggatcaggaagaaatggtagacaaaccagat attggttcctatgagcgccatcaaatagaaagaagaagattgcaggccaaacgagagcat gcagaaagacgaaagtcgtggttgcagaaaaaccaagatctcctgagagtatttctcagc tactgtagccttcatggggcccaaggtggtggtttggcttcagtaaggatggaactcaaa tttttgctacaagaatcacaacaggaaactacagtaaagcagctccagtctccactacca ctgcctaccaccctacctctgctttcagcaagtattgcgtcaacaaaaacagtcatagct aatcctgtattgtacttaaataatcacatccatgatatactttatactattgttcagatg aaaacaccacctcatcccagtattgaagatgtgaaggtgcacacacttcattcactagca gcatcactttctgcatcaatttaccaagcattatgtgacagtcatagctacagtcaaaca gaaggaaatcagtttacaggaatggcttatcaaggacttcttttaagtgatcgtagaaga ctaaggacagaaagcattgaagaacacgcaacaccaaattcatctcctgctcaatggcct ggtgtgagctcacttattaatcttttgagttcagcccaagatgaagaccagccaaaactg aacattttgctatgtgaagctgttgttgctgtttacttaagtttattgatacatgctctt gccacaaattcctccagtgaattatttcggcttgcagcccacccattaaataatcgaatg tgggctgctgtttttggaggcggtgtaaaacttgttgtgaaacctcgaagacaatcagaa aatatttcagcacctcctgtcctttctgaagacatagataaacaccgtaggagatttaac atgagaatgctcgtccctggaaggcctgtaaaagatgctaccccaccaccggtgcctgca gaaagaccatcttacaaagaaaaatttattcctcccgaacttagtatgtgggattatttt gttgcaaagccatttcttcctttgtctgatagtggtgttatatatgattctgatgaaagc attcatagtgatgaagaagatgatgcctttttttcagatacacaaatacaggagcaccaa gatccaaattcctatagctgggctcttctacatttgacaatggttaaactagcacttcac aatgtcaagaatttctttcctattgctggactggaattctctgagctgcctgtaacatca ccattaggtattgctgtgattaaaaacttggagaactgggaacagatcttgcaagagaaa atggatcagtttgaaggtccaccccctaactatatcaacacatatccaactgacctttca gtgggagctggaccagctattcttcgaaataaagcaatgctagaacctgaaaatacccca ttcaagtcccgggattcttctgcatttccagtcaaacgactttggcatttccttgttaaa caagaggtccttcaagagacatttattagatatattttcactaagaaaagaaagcagagt gaggttgaagctgatctgggctatccaggtggaaaggcgaaagtcatccataaggaatct gatatgatcatggcattttctgttaataaggcaaattgtaatgaaattgttttggcttca acacatgatgttcaagaacttgatgttacttctctactggcctgtcagtcatacatatgg atcggagaagaatatgacagagaatccaaaagttcagatgatgttgattatcgtggttcc actacaactctttatcaacccagtgcaacatcctattcagcaagtcaggtgcatccacct tcatctctgccatggctgggcactggacagactagcactggagctagtgtgcttatgaaa aggaatctacataatgttaagagaatgacttcacacccagtccatcaatactatcttaca ggtgctcaggacggcagtgtacgaatgtttgaatggacgcggcctcagcaacttgtctgc tttcgtcaagctggcaatgcaagagttactagattatattttaattcacaaggcaacaag tgtggtgttgcggatggagagggttttctgagtatctggcaagttaaccaaactgcatca aatcctaaaccttatatgagttggcagtgccacagtaaagccacaagtgactttgcattt attacctcttcaagtctagttgccacatctggacactccaatgacaatagaaatgtttgc ctctgggacacattaatatcacccggaaacagcctcattcatggtttcacgtgccacgat catggtgccacggtactgcagtatgcacccaaacagcaactcctaatctcggggggtagg aaaggacacgtctgcatttttgacatcaggcaaaggcagctcattcacacgttccaggcc catgactcagctattaaggctctggccttggatccctatgaggaatattttaccacaggt tcagcagaaggtaacataaaggtttggagattgacaggccatggcctaattcattcattt aaaagtgaacatgctaagcagtccatatttcgaaacattggggctggagtcatgcagatt gacatcatccagggcaatcggctcttctcctgtggtgcagatggcacgctgaaaaccagg gttttgcccaatgcttttaacatccctaacagaattcttgacattctataa

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