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GLI2

GLI2
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[1]
Ортологи
Види Людина Миша
Entrez
Ensembl
UniProt
RefSeq (мРНК)
NM_001081125
RefSeq (білок)
NP_005261
NP_001358200
NP_001361282
NP_001361283
NP_001074594
Локус (UCSC) Хр. 2: 120.74 – 120.99 Mb Хр. 1: 118.76 – 118.98 Mb
PubMed search [2] [3]
Вікідані
Див./Ред. для людейДив./Ред. для мишей

GLI2 (англ. GLI family zinc finger 2) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 2-ї хромосоми. [4] Довжина поліпептидного ланцюга білка становить 1 586 амінокислот, а молекулярна маса — 167 783[5].

Послідовність амінокислот
1020304050
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

Кодований геном білок за функціями належить до репресорів, активаторів, білків розвитку, 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

  1. Захворювання, генетично пов'язані з GLI2 переглянути/редагувати посилання на ВікіДаних.
  2. Human PubMed Reference:.
  3. Mouse PubMed Reference:.
  4. HUGO Gene Nomenclature Commitee, HGNC:4318 (англ.) . Архів оригіналу за 19 вересня 2017. Процитовано 28 серпня 2017.
  5. UniProt, P10070 (англ.) . Архів оригіналу за 17 вересня 2017. Процитовано 28 серпня 2017.

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