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Homeoboks 2

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Homeoboks 2
Dostupne strukture
PDBPretraga ortologa: PDBe RCSB
Spisak PDB ID kodova

3RKQ, 4S0H

Identifikatori
AliasiNKX2-5
Vanjski ID-jeviOMIM: 600584 MGI: 97350 HomoloGene: 3230 GeneCards: NKX2-5
Lokacija gena (čovjek)
Hromosom 5 (čovjek)
Hrom.Hromosom 5 (čovjek)[1]
Hromosom 5 (čovjek)
Genomska lokacija za Homeoboks 2
Genomska lokacija za Homeoboks 2
Bend5q35.1Početak173,232,109 bp[1]
Kraj173,235,311 bp[1]
Lokacija gena (miš)
Hromosom 17 (miš)
Hrom.Hromosom 17 (miš)[2]
Hromosom 17 (miš)
Genomska lokacija za Homeoboks 2
Genomska lokacija za Homeoboks 2
Bend17 A3.3|17 13.6 cMPočetak27,057,638 bp[2]
Kraj27,063,983 bp[2]
Obrazac RNK ekspresije
Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija 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
transcription factor binding
protein homodimerization activity
serum response element binding
chromatin binding
GO:0001948, GO:0016582 vezivanje za proteine
vezivanje sa DNK
sequence-specific DNA binding
GO:0001104 transcription coregulator activity
protein heterodimerization activity
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific
Ćelijska komponenta citoplazma
jedro
transcription regulator complex
RNA polymerase II transcription regulator complex
GO:0009327 makromolekulani kompleks
protein-DNA complex
Biološki proces cardiac conduction system development
apoptotic process involved in heart morphogenesis
bundle of His development
GO:0044324, GO:0003256, GO:1901213, GO:0046019, GO:0046020, GO:1900094, GO:0061216, GO:0060994, GO:1902064, GO:0003258, GO:0072212 regulation of transcription by RNA polymerase II
atrioventricular node cell development
outflow tract morphogenesis
embryonic heart tube development
Vaskulogeneza
heart looping
atrial septum morphogenesis
positive regulation of heart contraction
proepicardium development
pulmonary myocardium development
heart contraction
ventricular cardiac muscle cell development
negative regulation of canonical Wnt signaling pathway
pharyngeal system development
atrioventricular node development
cardiac ventricle formation
GO:0009373 regulation of transcription, DNA-templated
cardiac muscle contraction
regulation of cardiac muscle cell proliferation
heart trabecula formation
ventricular septum morphogenesis
cardiac muscle cell differentiation
Purkinje myocyte differentiation
spleen development
GO:0060469, GO:0009371 positive regulation of transcription, DNA-templated
heart development
positive regulation of neuron differentiation
positive regulation of cardioblast differentiation
septum secundum development
atrial cardiac muscle cell development
Ćelijska diferencijacija
adult heart development
right ventricular cardiac muscle tissue morphogenesis
negative regulation of apoptotic process
GO:1901227 negative regulation of transcription by RNA polymerase II
positive regulation of transcription initiation from RNA polymerase II promoter
cardiac muscle cell proliferation
BMP signaling pathway
ventricular trabecula myocardium morphogenesis
outflow tract septum morphogenesis
negative regulation of cardiac muscle cell apoptotic process
thyroid gland development
canonical Wnt signaling pathway
GO:0045996 negative regulation of transcription, DNA-templated
sarcomere organization
cardiac ventricle morphogenesis
regulation of cardiac conduction
cardiac muscle tissue development
embryonic heart tube left/right pattern formation
heart morphogenesis
cardiac muscle tissue morphogenesis
multicellular organism development
GO:1901313 positive regulation of gene expression
positive regulation of cell population proliferation
GO:0061423 positive regulation of sodium ion transport
negative regulation of myotube differentiation
regulation of cardiac muscle contraction
ventricular cardiac myofibril assembly
atrioventricular node cell fate commitment
GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II
transcription by RNA polymerase II
Hematopoeza
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_004387
NM_001166175
NM_001166176

NM_008700

RefSeq (bjelančevina)

NP_001159647
NP_001159648
NP_004378

NP_032726

Lokacija (UCSC)Chr 5: 173.23 – 173.24 MbChr 17: 27.06 – 27.06 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Homeoboksni protein MSX-2 je protein koji je kod ljudi kodiran genom MSX2 sa hromosoma 5, sekvenca 5q34-q35.[5][6][7]

Aminokiselinska sekvenca[uredi | uredi izvor]

Dužina polipeptidnog lanca je 267 aminokiselina, a molekulska težina 28 897 Da.[8]

1020304050
MASPSKGNDLFSPDEEGPAVVAGPGPGPGGAEGAAEERRVKVSSLPFSVE
ALMSDKKPPKEASPLPAESASAGATLRPLLLSGHGAREAHSPGPLVKPFE
TASVKSENSEDGAAWMQEPGRYSPPPRHMSPTTCTLRKHKTNRKPRTPFT
TSQLLALERKFRQKQYLSIAERAEFSSSLNLTETQVKIWFQNRRAKAKRL
QEAELEKLKMAAKPMLPSSFSLPFPISSPLQAASIYGASYPFHRPVLPIP
PVGLYATPVGYGMYHLS

Funkcija[uredi | uredi izvor]

Ovaj gen kodira člana porodice homeoboksnih gena mišićnog segmenta. Kodirani protein je transkripcijski represor čija normalna aktivnost može uspostaviti ravnotežu između preživljavanja i apoptoze ćelija izvedenih iz nevnog grebena, potrebnih za pravilnu kraniofacijsku morfogenezu. Kodirani protein takođe može imati ulogu u promociji rasta ćelija pod određenim uslovima i može biti važna meta za RAS signalne puteve. Mutacije ovog gena su povezane sa tjemenim otvorom 1 i kraniosinostozom tip 2.[7]

Msx2 je homeoboksni gen lokaliziran na ljudskom hromosomu 5, ai kodira represor i aktivator transkripcije (MSX-2) odgovoran za kraniofacijalni razvoj i razvoj pupoljaka udova. Ćelije eksprimiraju msx2 kada su izložene signalnim molekulama BMP-2 i BMP-4 in situ.[9] Ekspresija msx2 dovodi do proliferacije, migracije i osteogene diferencijacije ćelija nervnog grebena tokom embriogeneze i frakture kosti.[10] Dobro je dokumentovano da će ekspresija adhezjskih molekula ćelija-ćelija, kao što su E-kadherini, promovirati strukturni integritet i epitelni raspored ćelija, dok ekspresija N-kadherina i vimentina promoviše mezenhimski raspored i migraciju ćelija.[11][12] Msx2 smanjuje regulaciju E-kadherina i povećava N-kadherin i vimentin, što ukazuje na njegovu ulogu u izazivanju epitelne mezenhimske tranzicije (EMT). Za ovaj gen kreirani miševi genotipa (Msx2 +/–) nokautiranjem zametne linije kako bi se ispitao funkcionalni gubitak.[13] Kliničke studije o kraniosinostozi, ili preranoj fuziji kranijalnih struktura, pokazale su da je ovo stanje genetički povezano s mutacijom homeoboksnog gena msx2.[14]

Interakcije[uredi | uredi izvor]

Pokazalo se da Msh homeoboks 2 reaguje sa DLX5,[15] DLX2[15] i MSX1.[15]

Reference[uredi | uredi izvor]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000183072 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000015579 - Ensembl, maj 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Takahashi C, Akiyama N, Matsuzaki T, Takai S, Kitayama H, Noda M (maj 1996). "Characterization of a human MSX-2 cDNA and its fragment isolated as a transformation suppressor gene against v-Ki-ras oncogene". Oncogene. 12 (10): 2137–46. PMID 8668339.
  6. ^ Kostrzewa M, Grady DL, Moyzis RK, Flöter L, Müller U (mart 1996). "Integration of four genes, a pseudogene, thirty-one STSs, and a highly polymorphic STRP into the 7-10 Mb YAC contig of 5q34-q35". Human Genetics. 97 (3): 399–403. doi:10.1007/BF02185781. PMID 8786091. S2CID 12647370.
  7. ^ a b "Entrez Gene: MSX2 msh homeobox 2".
  8. ^ "UniProt, P35548" (jezik: engleski). Pristupljeno 27. 12. 2021.
  9. ^ Rifas, L (juli 1997). "Gestational exposure to ethanol suppresses msx2 expression in developing mouse embryos". Proc Natl Acad Sci U S A. 94 (14): 7549–54. Bibcode:1997PNAS...94.7549R. doi:10.1073/pnas.94.14.7549. PMC 23859. PMID 9207129.
  10. ^ Liu H, Chen B, Li Y (mart 2019). "microRNA-203 promotes proliferation, differentiation, and migration of osteoblasts by upregulation of Msh homeobox 2". Journal of Cellular Physiology. 234 (10): 17639–17648. doi:10.1002/jcp.28387. PMID 30854680. S2CID 73726197.
  11. ^ Fujita T, Hayashida K, Shiba H, Kishimoto A, Matsuda S, Takeda K, Kawaguchi H, Kurihara H (august 2010). "The expressions of claudin-1 and E-cadherin in junctional epithelium". Journal of Periodontal Research. 45 (4): 579–82. doi:10.1111/j.1600-0765.2009.01258.x. PMID 20337884.
  12. ^ Zhao Y, Yao J, Wu XP, Zhao L, Zhou YX, Zhang Y, You QD, Guo QL, Lu N (juni 2015). "Wogonin suppresses human alveolar adenocarcinoma cell A549 migration in inflammatory microenvironment by modulating the IL-6/STAT3 signaling pathway". Molecular Carcinogenesis. 54 Suppl 1: E81-93. doi:10.1002/mc.22182. PMID 24976450. S2CID 29685898.
  13. ^ Yu Z, Yu W, Liu J, Wu D, Wang C, Zhang J, Zhao J (juli 2018). "Lens-specific deletion of the Msx2 gene increased apoptosis by enhancing the caspase-3/caspase-8 signaling pathway". The Journal of International Medical Research. 46 (7): 2843–2855. doi:10.1177/0300060518774687. PMC 6124292. PMID 29921154.
  14. ^ Melville H, Wang Y, Taub PJ, Jabs EW (decembar 2010). "Genetic basis of potential therapeutic strategies for craniosynostosis". American Journal of Medical Genetics. Part A. 152A (12): 3007–15. doi:10.1002/ajmg.a.33703. PMID 21082653. S2CID 24424024.
  15. ^ a b c Zhang H, Hu G, Wang H, Sciavolino P, Iler N, Shen MM, Abate-Shen C (maj 1997). "Heterodimerization of Msx and Dlx homeoproteins results in functional antagonism". Molecular and Cellular Biology. 17 (5): 2920–32. doi:10.1128/mcb.17.5.2920. PMC 232144. PMID 9111364.

Dopunska literatura[uredi | uredi izvor]

Vanjski linkovi[uredi | uredi izvor]

MSX2 detalji ljudskog genoma u UCSC Genome Browser.

Ovaj članak uključuje tekst iz Nacionalne medicinske biblioteke Sjedinjenih Država, koji je u javnom vlasništvu.