GLI2 (англ. GLI family zinc finger 2) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 2-ї хромосоми. Довжина поліпептидного ланцюга білка становить 1 586 амінокислот, а молекулярна маса — 167 783.
GLI2 | |||||||||||||||||
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Ідентифікатори | |||||||||||||||||
Символи | GLI2, CJS, HPE9, PHS2, THP1, THP2, GLI family zinc finger 2 | ||||||||||||||||
Зовнішні ІД | OMIM: 165230 MGI: 95728 HomoloGene: 12725 GeneCards: GLI2 | ||||||||||||||||
Пов'язані генетичні захворювання | |||||||||||||||||
рак простати, еректильна дисфункція, holoprosencephaly 9, postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | |||||||||||||||||
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Ортологи | |||||||||||||||||
Види | Людина | Миша | |||||||||||||||
Entrez |
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Ensembl |
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UniProt |
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RefSeq (мРНК) |
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RefSeq (білок) |
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Локус (UCSC) | Хр. 2: 120.74 – 120.99 Mb | Хр. 1: 118.76 – 118.98 Mb | |||||||||||||||
PubMed search | |||||||||||||||||
Вікідані | |||||||||||||||||
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10 | 20 | 30 | 40 | 50 | ||||
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METSASATAS | EKQEAKSGIL | EAAGFPDPGK | KASPLVVAAA | AAAAVAAQGV | ||||
PQHLLPPFHA | PLPIDMRHQE | GRYHYEPHSV | HGVHGPPALS | GSPVISDISL | ||||
IRLSPHPAGP | GESPFNAPHP | YVNPHMEHYL | RSVHSSPTLS | MISAARGLSP | ||||
ADVAQEHLKE | RGLFGLPAPG | TTPSDYYHQM | TLVAGHPAPY | GDLLMQSGGA | ||||
ASAPHLHDYL | NPVDVSRFSS | PRVTPRLSRK | RALSISPLSD | ASLDLQRMIR | ||||
TSPNSLVAYI | NNSRSSSAAS | GSYGHLSAGA | LSPAFTFPHP | INPVAYQQIL | ||||
SQQRGLGSAF | GHTPPLIQPS | PTFLAQQPMA | LTSINATPTQ | LSSSSNCLSD | ||||
TNQNKQSSES | AVSSTVNPVA | IHKRSKVKTE | PEGLRPASPL | ALTQGQVSGH | ||||
GSCGCALPLS | QEQLADLKED | LDRDDCKQEA | EVVIYETNCH | WEDCTKEYDT | ||||
QEQLVHHINN | EHIHGEKKEF | VCRWQACTRE | QKPFKAQYML | VVHMRRHTGE | ||||
KPHKCTFEGC | SKAYSRLENL | KTHLRSHTGE | KPYVCEHEGC | NKAFSNASDR | ||||
AKHQNRTHSN | EKPYICKIPG | CTKRYTDPSS | LRKHVKTVHG | PDAHVTKKQR | ||||
NDVHLRTPLL | KENGDSEAGT | EPGGPESTEA | SSTSQAVEDC | LHVRAIKTES | ||||
SGLCQSSPGA | QSSCSSEPSP | LGSAPNNDSG | VEMPGTGPGS | LGDLTALDDT | ||||
PPGADTSALA | APSAGGLQLR | KHMTTMHRFE | QLKKEKLKSL | KDSCSWAGPT | ||||
PHTRNTKLPP | LPGSGSILEN | FSGSGGGGPA | GLLPNPRLSE | LSASEVTMLS | ||||
QLQERRDSST | STVSSAYTVS | RRSSGISPYF | SSRRSSEASP | LGAGRPHNAS | ||||
SADSYDPIST | DASRRSSEAS | QCSGGSGLLN | LTPAQQYSLR | AKYAAATGGP | ||||
PPTPLPGLER | MSLRTRLALL | DAPERTLPAG | CPRPLGPRRG | SDGPTYGHGH | ||||
AGAAPAFPHE | APGGGARRAS | DPVRRPDALS | LPRVQRFHST | HNVNPGPLPP | ||||
CADRRGLRLQ | SHPSTDGGLA | RGAYSPRPPS | ISENVAMEAV | AAGVDGAGPE | ||||
ADLGLPEDDL | VLPDDVVQYI | KAHASGALDE | GTGQVYPTES | TGFSDNPRLP | ||||
SPGLHGQRRM | VAADSNVGPS | APMLGGCQLG | FGAPSSLNKN | NMPVQWNEVS | ||||
SGTVDALASQ | VKPPPFPQGN | LAVVQQKPAF | GQYPGYSPQG | LQASPGGLDS | ||||
TQPHLQPRSG | APSQGIPRVN | YMQQLRQPVA | GSQCPGMTTT | MSPHACYGQV | ||||
HPQLSPSTIS | GALNQFPQSC | SNMPAKPGHL | GHPQQTEVAP | DPTTMGNRHR | ||||
ELGVPDSALA | GVPPPHPVQS | YPQQSHHLAA | SMSQEGYHQV | PSLLPARQPG | ||||
FMEPQTGPMG | VATAGFGLVQ | PRPPLEPSPT | GRHRGVRAVQ | QQLAYARATG | ||||
HAMAAMPSSQ | ETAEAVPKGA | MGNMGSVPPQ | PPPQDAGGAP | DHSMLYYYGQ | ||||
IHMYEQDGGL | ENLGSCQVMR | SQPPQPQACQ | DSIQPQPLPS | PGVNQVSSTV | ||||
DSQLLEAPQI | DFDAIMDDGD | HSSLFSGALS | PSLLHSLSQN | SSRLTTPRNS | ||||
LTLPSIPAGI | SNMAVGDMSS | MLTSLAEESK | FLNMMT |
Кодований геном білок за функціями належить до репресорів, активаторів, , фосфопротеїнів. Задіяний у таких біологічних процесах як транскрипція, регуляція транскрипції, ацетиляція, альтернативний сплайсинг. Білок має сайт для зв'язування з іонами металів, іоном цинку, ДНК. Локалізований у цитоплазмі, ядрі, клітинних відростках, війках.
Література
- Maloverjan A., Piirsoo M., Michelson P., Kogerman P., Osterlund T. (2010). Identification of a novel serine/threonine kinase ULK3 as a positive regulator of Hedgehog pathway. Exp. Cell Res. 316: 627—637. PMID 19878745 DOI:10.1016/j.yexcr.2009.10.018
- Rahimov F., Ribeiro L.A., de Miranda E., Richieri-Costa A., Murray J.C. (2006). GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?. Am. J. Med. Genet. A. 140: 2571—2576. PMID 17096318 DOI:10.1002/ajmg.a.31370
- Tanimura A., Dan S., Yoshida M. (1998). Cloning of novel isoforms of the human Gli2 oncogene and their activities to enhance tax-dependent transcription of the human T-cell leukemia virus type 1 genome. J. Virol. 72: 3958—3964. PMID 9557682
- Tanimura A., Teshima H., Fujisawa J., Yoshida M. (1993). A new regulatory element that augments the Tax-dependent enhancer of human T-cell leukemia virus type 1 and cloning of cDNAs encoding its binding proteins. J. Virol. 67: 5375—5382. PMID 8350401
Примітки
- Захворювання, генетично пов'язані з GLI2 переглянути/редагувати посилання на ВікіДаних.
- Human PubMed Reference:.
- Mouse PubMed Reference:.
- (англ.) . Архів оригіналу за 19 вересня 2017. Процитовано 28 серпня 2017.
- (англ.) . Архів оригіналу за 17 вересня 2017. Процитовано 28 серпня 2017.
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GLI2 angl GLI family zinc finger 2 bilok yakij koduyetsya odnojmennim genom roztashovanim u lyudej na korotkomu plechi 2 yi hromosomi Dovzhina polipeptidnogo lancyuga bilka stanovit 1 586 aminokislot a molekulyarna masa 167 783 GLI2IdentifikatoriSimvoliGLI2 CJS HPE9 PHS2 THP1 THP2 GLI family zinc finger 2Zovnishni ID OMIM 165230 MGI 95728 HomoloGene 12725 GeneCards GLI2Pov yazani genetichni zahvoryuvannyarak prostati erektilna disfunkciya holoprosencephaly 9 postaxial polydactyly anterior pituitary anomalies facial dysmorphism syndrome Ontologiya genaMolekulyarna funkciya GO 0001131 GO 0001151 GO 0001130 GO 0001204 DNA binding transcription factor activity GO 0001077 GO 0001212 GO 0001213 GO 0001211 GO 0001205 DNA binding transcription activator activity RNA polymerase II specific zv yazuvannya z ionom metalu GO 0000980 RNA polymerase II cis regulatory region sequence specific DNA binding zinc ion binding chromatin binding GO 0001948 GO 0016582 protein binding nucleic acid binding sequence specific DNA binding DNA binding transcription factor binding promoter specific chromatin binding GO 0001200 GO 0001133 GO 0001201 DNA binding transcription factor activity RNA polymerase II specificKlitinna komponenta citoplazma gialoplazma membrana klitinne yadro nuclear speck GO 0035085 Aksonema nukleoplazma ciliary base ciliary tip yaderce motile cilium vijka cell projectionBiologichnij proces pattern specification process skeletal system development smoothened signaling pathway involved in ventral spinal cord interneuron specification notochord regression anatomical structure formation involved in morphogenesis hindgut morphogenesis spinal cord dorsal ventral patterning transcription by RNA polymerase II mammary gland development odontogenesis of dentin containing tooth prostatic bud formation negative regulation of chondrocyte differentiation cerebellar cortex morphogenesis proliferaciya spinal cord ventral commissure morphogenesis cellular response to virus floor plate formation GO 0009373 regulation of transcription DNA templated rozvitok nirki lung development tube development response to mechanical stimulus embryonic digit morphogenesis head development neuron development in utero embryonic development transcription DNA templated mammary gland duct morphogenesis GO 0060469 GO 0009371 positive regulation of transcription DNA templated morphogenesis of an epithelium ventral midline development heart development positive regulation of neuron differentiation neural tube development smoothened signaling pathway spinal cord motor neuron differentiation epidermal cell differentiation proximal distal pattern formation diferenciaciya klitin positive regulation of T cell differentiation in thymus chondrocyte differentiation GO 1903374 anatomical structure development smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation GO 1904579 cellular response to organic cyclic compound negative regulation of apoptotic process GO 1901227 negative regulation of transcription by RNA polymerase II positive regulation of DNA replication developmental growth osteoblast differentiation osteoblast development dorsal ventral neural tube patterning dorsal ventral pattern formation branching morphogenesis of an epithelial tube embryonic digestive tract development pituitary gland development hindbrain development ventral spinal cord development axon guidance multicellular organism development regulation of smoothened signaling pathway smoothened signaling pathway involved in dorsal ventral neural tube patterning smoothened signaling pathway involved in spinal cord motor neuron cell fate specification cochlea morphogenesis positive regulation of cell population proliferation anterior posterior pattern specification GO 0003257 GO 0010735 GO 1901228 GO 1900622 GO 1904488 positive regulation of transcription by RNA polymerase II prostate gland developmentDzherela Amigo QuickGOOrtologiVidi Lyudina MishaEntrez2736 14633Ensembl ENSG00000074047 ENSMUSG00000048402UniProt P10070 Q0VGT2RefSeq mRNK NM 005270 NM 030379 NM 030380 NM 030381 NM 001371271NM 001374353 NM 001374354NM 001081125RefSeq bilok NP 005261 NP 001358200 NP 001361282 NP 001361283NP 001074594Lokus UCSC Hr 2 120 74 120 99 MbHr 1 118 76 118 98 MbPubMed searchVikidaniDiv Red dlya lyudejDiv Red dlya mishej Poslidovnist aminokislot1020304050 METSASATASEKQEAKSGILEAAGFPDPGKKASPLVVAAAAAAAVAAQGV PQHLLPPFHAPLPIDMRHQEGRYHYEPHSVHGVHGPPALSGSPVISDISL IRLSPHPAGPGESPFNAPHPYVNPHMEHYLRSVHSSPTLSMISAARGLSP ADVAQEHLKERGLFGLPAPGTTPSDYYHQMTLVAGHPAPYGDLLMQSGGA ASAPHLHDYLNPVDVSRFSSPRVTPRLSRKRALSISPLSDASLDLQRMIR TSPNSLVAYINNSRSSSAASGSYGHLSAGALSPAFTFPHPINPVAYQQIL SQQRGLGSAFGHTPPLIQPSPTFLAQQPMALTSINATPTQLSSSSNCLSD TNQNKQSSESAVSSTVNPVAIHKRSKVKTEPEGLRPASPLALTQGQVSGH GSCGCALPLSQEQLADLKEDLDRDDCKQEAEVVIYETNCHWEDCTKEYDT QEQLVHHINNEHIHGEKKEFVCRWQACTREQKPFKAQYMLVVHMRRHTGE KPHKCTFEGCSKAYSRLENLKTHLRSHTGEKPYVCEHEGCNKAFSNASDR AKHQNRTHSNEKPYICKIPGCTKRYTDPSSLRKHVKTVHGPDAHVTKKQR NDVHLRTPLLKENGDSEAGTEPGGPESTEASSTSQAVEDCLHVRAIKTES SGLCQSSPGAQSSCSSEPSPLGSAPNNDSGVEMPGTGPGSLGDLTALDDT PPGADTSALAAPSAGGLQLRKHMTTMHRFEQLKKEKLKSLKDSCSWAGPT PHTRNTKLPPLPGSGSILENFSGSGGGGPAGLLPNPRLSELSASEVTMLS QLQERRDSSTSTVSSAYTVSRRSSGISPYFSSRRSSEASPLGAGRPHNAS SADSYDPISTDASRRSSEASQCSGGSGLLNLTPAQQYSLRAKYAAATGGP PPTPLPGLERMSLRTRLALLDAPERTLPAGCPRPLGPRRGSDGPTYGHGH AGAAPAFPHEAPGGGARRASDPVRRPDALSLPRVQRFHSTHNVNPGPLPP CADRRGLRLQSHPSTDGGLARGAYSPRPPSISENVAMEAVAAGVDGAGPE ADLGLPEDDLVLPDDVVQYIKAHASGALDEGTGQVYPTESTGFSDNPRLP SPGLHGQRRMVAADSNVGPSAPMLGGCQLGFGAPSSLNKNNMPVQWNEVS SGTVDALASQVKPPPFPQGNLAVVQQKPAFGQYPGYSPQGLQASPGGLDS TQPHLQPRSGAPSQGIPRVNYMQQLRQPVAGSQCPGMTTTMSPHACYGQV HPQLSPSTISGALNQFPQSCSNMPAKPGHLGHPQQTEVAPDPTTMGNRHR ELGVPDSALAGVPPPHPVQSYPQQSHHLAASMSQEGYHQVPSLLPARQPG FMEPQTGPMGVATAGFGLVQPRPPLEPSPTGRHRGVRAVQQQLAYARATG HAMAAMPSSQETAEAVPKGAMGNMGSVPPQPPPQDAGGAPDHSMLYYYGQ IHMYEQDGGLENLGSCQVMRSQPPQPQACQDSIQPQPLPSPGVNQVSSTV DSQLLEAPQIDFDAIMDDGDHSSLFSGALSPSLLHSLSQNSSRLTTPRNS LTLPSIPAGISNMAVGDMSSMLTSLAEESKFLNMMT A Alanin C Cisteyin D Asparaginova kislota E Glutaminova kislota F Fenilalanin G Glicin H Gistidin I Izolejcin K Lizin L Lejcin M Metionin N Asparagin P Prolin Q Glutamin R Arginin S Serin T Treonin V Valin W Triptofan Y Tirozin Kodovanij genom bilok za funkciyami nalezhit do represoriv aktivatoriv fosfoproteyiniv Zadiyanij u takih biologichnih procesah yak transkripciya regulyaciya transkripciyi acetilyaciya alternativnij splajsing Bilok maye sajt dlya zv yazuvannya z ionami metaliv ionom cinku DNK Lokalizovanij u citoplazmi yadri klitinnih vidrostkah vijkah LiteraturaMaloverjan A Piirsoo M Michelson P Kogerman P Osterlund T 2010 Identification of a novel serine threonine kinase ULK3 as a positive regulator of Hedgehog pathway Exp Cell Res 316 627 637 PMID 19878745 DOI 10 1016 j yexcr 2009 10 018 Rahimov F Ribeiro L A de Miranda E Richieri Costa A Murray J C 2006 GLI2 mutations in four Brazilian patients how wide is the phenotypic spectrum Am J Med Genet A 140 2571 2576 PMID 17096318 DOI 10 1002 ajmg a 31370 Tanimura A Dan S Yoshida M 1998 Cloning of novel isoforms of the human Gli2 oncogene and their activities to enhance tax dependent transcription of the human T cell leukemia virus type 1 genome J Virol 72 3958 3964 PMID 9557682 Tanimura A Teshima H Fujisawa J Yoshida M 1993 A new regulatory element that augments the Tax dependent enhancer of human T cell leukemia virus type 1 and cloning of cDNAs encoding its binding proteins J Virol 67 5375 5382 PMID 8350401PrimitkiZahvoryuvannya genetichno pov yazani z GLI2 pereglyanuti redaguvati posilannya na VikiDanih Human PubMed Reference Mouse PubMed Reference angl Arhiv originalu za 19 veresnya 2017 Procitovano 28 serpnya 2017 angl Arhiv originalu za 17 veresnya 2017 Procitovano 28 serpnya 2017 Div takozhHromosoma 2 Ce nezavershena stattya pro bilki Vi mozhete dopomogti proyektu vipravivshi abo dopisavshi yiyi