CSPG4

CSPG4
Идентификаторы
Псевдонимы	CSPG4 , HMW-MAA, MCSP, MCSPG, MEL-CSPG, MSK16, NG2, хондроитинсульфатный протеогликан 4, CSPG4A
Внешние идентификаторы	Омим : 601172 ; MGI : 2153093 ; Гомологен : 20445 ; GeneCards : CSPG4 ; OMA : CSPG4 - ортологи
showМестоположение гена ( человек )
Chr.	Chromosome 15 (human)
End	75,712,848 bp
showМестоположение гена ( мышь )
Chr.	Chromosome 9 (mouse)
End	56,807,154 bp
showРНК -паттерн экспрессии
	Top expressed in
	tendon of biceps brachii; ; cartilage tissue; ; tibia; ; popliteal artery; ; tibial arteries; ; right coronary artery; ; Descending thoracic aorta; ; ascending aorta; ; left coronary artery; ; muscle layer of sigmoid colon;
	Top expressed in
	ascending aorta; ; tunica media of zone of aorta; ; internal carotid artery; ; aortic valve; ; fossa; ; condyle; ; external carotid artery; ; phalanx of foot; ; phalanx of third toe; ; phalanx of fourth toe;
	More reference expression data
	; ;
	More reference expression data
showДжин Онтология
Molecular function	signal transducer activity; protein kinase binding;
Cellular component	integral component of membrane; cell projection; membrane; focal adhesion; plasma membrane; integral component of plasma membrane; extracellular region; cell surface; lysosomal lumen; apical plasma membrane; Golgi lumen; extracellular exosome; lamellipodium membrane; extracellular matrix; collagen-containing extracellular matrix;
Biological process	glycosaminoglycan metabolic process; cell differentiation; intracellular signal transduction; transmembrane receptor protein tyrosine kinase signaling pathway; chondroitin sulfate biosynthetic process; multicellular organism development; angiogenesis; positive regulation of peptidyl-tyrosine phosphorylation; chondroitin sulfate catabolic process; dermatan sulfate biosynthetic process; cell population proliferation; tissue remodeling; signal transduction; glial cell migration;
	Sources:Amigo / QuickGO
hideОртологи
	1464
	121021
	ENSG00000173546
	EMSMUSM00000032911
	Q6UVK1
	Q8VHY0
	NM_001897
	NM_139001
	NP_001888
	NP_620570
	Wikidata
View/Edit Human	View/Edit Mouse

Протеогликан сульфата хондроитина , также известный как ассоциированная с меланомой хондроитинсульфат протеогликана ( MCSP ) или нейроно-жаль антиген 2 ( NG2 ), представляет собой хондроитинсульфатный протеогликан который кодируется в человеке CSPG4 , . ^{[ 5 ]}^{[ 6 ]}^{[ 7 ]}

Функция

CSPG4 играет роль в стабилизации клеточных взаимодействий во время ранних событий клеток меланомы, распространяющихся на эндотелиальных базальных мембранах . Он представляет собой интегральную мембрану хондроитиновой сульфат протеогликан, экспрессируемый клетками злокачественной меланомы человека . ^{[ 7 ]}

Последствия при заболевании

CSPG4/NG2 также является отличным белком клеток -предшественников олигодендроцитов (OPC) ^{[ 8 ]} and OPC dysfunction has been implicated as a candidate pathophysiological mechanism of familial schizophrenia.^[9] A research group investigating the role of genetics in schizophrenia, reported, two rare missense mutations in CSPG4 gene, segregating within families (CSPG4^A131T and CSPG4^V901G mutations). The researchers also demonstrate that the induced pluripotent stem cells (iPSCs)-derived OPCs from CSPG4^A131T mutation carriers exhibited abnormal post-translational processing, subcellular localization of the mutant NG2 protein, aberrant cellular morphology, and a decreased cell viability and myelination potential. In vivo diffusion tensor imaging of the brain of CSPG4^A131T mutation carriers demonstrated a reduced white matter integrity compared to the unaffected sibling and matched general population controls.^[10]

References

^ Jump up to: ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000173546 – Ensembl, May 2017
^ Jump up to: ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000032911 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Pluschke G, Vanek M, Evans A, Dittmar T, Schmid P, Itin P, Filardo EJ, Reisfeld RA (September 1996). "Molecular cloning of a human melanoma-associated chondroitin sulfate proteoglycan". Proceedings of the National Academy of Sciences of the United States of America. 93 (18): 9710–5. Bibcode:1996PNAS...93.9710P. doi:10.1073/pnas.93.18.9710. PMC 38494. PMID 8790396.
^ Luo W, Wang X, Kageshita T, Wakasugi S, Karpf AR, Ferrone S (May 2006). "Regulation of high molecular weight-melanoma associated antigen (HMW-MAA) gene expression by promoter DNA methylation in human melanoma cells". Oncogene. 25 (20): 2873–84. doi:10.1038/sj.onc.1209319. PMID 16407841. S2CID 39073910.
^ Jump up to: ^a ^b "Entrez Gene: CSPG4 chondroitin sulfate proteoglycan 4".
^ Nishiyama A, Dahlin KJ, Prince JT, Johnstone SR, Stallcup WB (July 1991). "The primary structure of NG2, a novel membrane-spanning proteoglycan". The Journal of Cell Biology. 114 (2): 359–71. doi:10.1083/jcb.114.2.359. PMC 2289079. PMID 1906475.
^ de Vrij FM, Bouwkamp CG, Gunhanlar N, Shpak G, Lendemeijer B, Baghdadi M, Gopalakrishna S, Ghazvini M, Li TM, Quadri M, Olgiati S, Breedveld GJ, Coesmans M, Mientjes E, de Wit T, Verheijen FW, Beverloo HB, Cohen D, Kok RM, Bakker PR, Nijburg A, Spijker AT, Haffmans PM, Hoencamp E, Bergink V, Vorstman JA, Wu T, Olde Loohuis LM, Amin N, Langen CD, Hofman A, Hoogendijk WJ, van Duijn CM, Ikram MA, Vernooij MW, Tiemeier H, Uitterlinden AG, Elgersma Y, Distel B, Gribnau J, White T, Bonifati V, Kushner SA (January 2018). "Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia". Molecular Psychiatry. 24 (5): 757–771. doi:10.1038/s41380-017-0004-2. PMC 6755981. PMID 29302076.
^ de Vrij FM, Bouwkamp CG, Gunhanlar N, Shpak G, Lendemeijer B, Baghdadi M, Gopalakrishna S, Ghazvini M, Li TM, Quadri M, Olgiati S, Breedveld GJ, Coesmans M, Mientjes E, de Wit T, Verheijen FW, Beverloo HB, Cohen D, Kok RM, Bakker PR, Nijburg A, Spijker AT, Haffmans PM, Hoencamp E, Bergink V, Vorstman JA, Wu T, Olde Loohuis LM, Amin N, Langen CD, Hofman A, Hoogendijk WJ, van Duijn CM, Ikram MA, Vernooij MW, Tiemeier H, Uitterlinden AG, Elgersma Y, Distel B, Gribnau J, White T, Bonifati V, Kushner SA (January 2018). "Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia". Molecular Psychiatry. 24 (5): 757–771. doi:10.1038/s41380-017-0004-2. PMC 6755981. PMID 29302076.

Внешние ссылки

человека Расположение генома CSPG4 и страница сведений генов CSPG4 в браузере генома UCSC .

Эта статья о гене о хромосоме человека 15 является заглушкой . Вы можете помочь Википедии, расширив ее .

[refGRCh38Ensembl-1] Jump up to: ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000173546 – Ensembl, May 2017

[refGRCm38Ensembl-2] Jump up to: ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000032911 – Ensembl, May 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.

[pmid8790396-5] Pluschke G, Vanek M, Evans A, Dittmar T, Schmid P, Itin P, Filardo EJ, Reisfeld RA (September 1996). "Molecular cloning of a human melanoma-associated chondroitin sulfate proteoglycan". Proceedings of the National Academy of Sciences of the United States of America. 93 (18): 9710–5. Bibcode:1996PNAS...93.9710P. doi:10.1073/pnas.93.18.9710. PMC 38494. PMID 8790396.

[pmid16407841-6] Luo W, Wang X, Kageshita T, Wakasugi S, Karpf AR, Ferrone S (May 2006). "Regulation of high molecular weight-melanoma associated antigen (HMW-MAA) gene expression by promoter DNA methylation in human melanoma cells". Oncogene. 25 (20): 2873–84. doi:10.1038/sj.onc.1209319. PMID 16407841. S2CID 39073910.

[entrez-7] Jump up to: ^a ^b "Entrez Gene: CSPG4 chondroitin sulfate proteoglycan 4".

[8] Nishiyama A, Dahlin KJ, Prince JT, Johnstone SR, Stallcup WB (July 1991). "The primary structure of NG2, a novel membrane-spanning proteoglycan". The Journal of Cell Biology. 114 (2): 359–71. doi:10.1083/jcb.114.2.359. PMC 2289079. PMID 1906475.

[9] Vrij FM, Bouwkamp CG, Gunhanlar N, Shpak G, Lendemeijer B, Baghdadi M, Gopalakrishna S, Ghazvini M, Li TM, Quadri M, Olgiati S, Breedveld GJ, Coesmans M, Mientjes E, de Wit T, Verheijen FW, Beverloo HB, Cohen D, Kok RM, Bakker PR, Nijburg A, Spijker AT, Haffmans PM, Hoencamp E, Bergink V, Vorstman JA, Wu T, Olde Loohuis LM, Amin N, Langen CD, Hofman A, Hoogendijk WJ, van Duijn CM, Ikram MA, Vernooij MW, Tiemeier H, Uitterlinden AG, Elgersma Y, Distel B, Gribnau J, White T, Bonifati V, Kushner SA (January 2018). "Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia". Molecular Psychiatry. 24 (5): 757–771. doi:10.1038/s41380-017-0004-2. PMC 6755981. PMID 29302076.

[10] Vrij FM, Bouwkamp CG, Gunhanlar N, Shpak G, Lendemeijer B, Baghdadi M, Gopalakrishna S, Ghazvini M, Li TM, Quadri M, Olgiati S, Breedveld GJ, Coesmans M, Mientjes E, de Wit T, Verheijen FW, Beverloo HB, Cohen D, Kok RM, Bakker PR, Nijburg A, Spijker AT, Haffmans PM, Hoencamp E, Bergink V, Vorstman JA, Wu T, Olde Loohuis LM, Amin N, Langen CD, Hofman A, Hoogendijk WJ, van Duijn CM, Ikram MA, Vernooij MW, Tiemeier H, Uitterlinden AG, Elgersma Y, Distel B, Gribnau J, White T, Bonifati V, Kushner SA (January 2018). "Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia". Molecular Psychiatry. 24 (5): 757–771. doi:10.1038/s41380-017-0004-2. PMC 6755981. PMID 29302076.

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[9]

[10]

CSPG4

Функция

Последствия при заболевании

See also

References

Further reading

Внешние ссылки