NCAPG2: Difference between revisions

NCAPG2
Identifiers
Aliases	NCAPG2, CAP-G2, CAPG2, LUZP5, MTB, hCAP-G2, non-SMC condensin II complex subunit G2, 3KS
External IDs	OMIM: 608532; MGI: 1923294; HomoloGene: 9820; GeneCards: NCAPG2; OMA:NCAPG2 - orthologs
Gene location (Human)
Chr.	Chromosome 7 (human)
End	158,704,804 bp
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)
End	116,427,351 bp
RNA expression pattern
	Top expressed in
	ventricular zone; ; secondary oocyte; ; sperm; ; ganglionic eminence; ; bone marrow; ; bone marrow cells; ; trabecular bone; ; stromal cell of endometrium; ; gonad; ; right testis;
	Top expressed in
	nasal epithelium; ; olfactory epithelium; ; secondary oocyte; ; primary oocyte; ; zygote; ; ventricular zone; ; fetal liver hematopoietic progenitor cell; ; tail of embryo; ; dermis; ; superior cervical ganglion;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	methylated histone binding; protein binding; bHLH transcription factor binding; molecular function regulator;
Cellular component	membrane; nucleus; nucleoplasm; condensin complex; nuclear speck;
Biological process	cell division; cell cycle; chromosome condensation; inner cell mass cell proliferation; transcription by RNA polymerase II; erythrocyte differentiation; negative regulation of erythrocyte differentiation; positive regulation of protein tyrosine kinase activity; positive regulation of signaling receptor activity;
	Sources:Amigo / QuickGO
Orthologs
	54892
	76044
	ENSG00000146918
	ENSMUSG00000042029
	Q86XI2
	Q6DFV1
	NM_001281932; NM_001281933; NM_017760
	NM_133762
	NP_001268861; NP_001268862; NP_060230
	NP_598523
	Wikidata
View/Edit Human	View/Edit Mouse

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Revision as of 07:30, 27 July 2019

Condensin-2 complex subunit G2 (CAP-G2) also known as chromosome-associated protein G2 (CAP-G2) or leucine zipper protein 5 (LUZP5) is a protein that in humans is encoded by the NCAPG2 gene.^[5]^[6] CAP-G2 is a subunit of condensin II, a large protein complex involved in chromosome condensation. It interacts with PLK1 through its C-terminal region during mitosis^[7]

Clinical importance

Mutations in this gene in humans have been associated with severe neurodevelopmental defects, failure to thrive, ocular abnormalities, and defects in urogenital and limb morphogenesis.^[8]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000146918 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000042029 – 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.
^ Ono T, Losada A, Hirano M, Myers MP, Neuwald AF, Hirano T (October 2003). "Differential contributions of condensin I and condensin II to mitotic chromosome architecture in vertebrate cells". Cell. 115 (1): 109–21. doi:10.1016/S0092-8674(03)00724-4. PMID 14532007.
^ "Entrez Gene: NCAPG2 non-SMC condensin II complex, subunit G2".
^ Kim JH, Shim J, Ji MJ, Jung Y, Bong SM, Jang YJ, Yoon EK, Lee SJ, Kim KG, Kim YH, Lee C, Lee BI, Kim KT (August 2014). "The condensin component NCAPG2 regulates microtubule-kinetochore attachment through recruitment of Polo-like kinase 1 to kinetochores". Nature Communications. 5: 4588. doi:10.1038/ncomms5588. PMID 25109385.
^ Khan TN, Khan K, Sadeghpour A, Reynolds H, Perilla Y, McDonald MT, Gallentine WB, Baig SM, Davis EE, Katsanis N, et al. (Task Force for Neonatal Genomics) (January 2019). "Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies". American Journal of Human Genetics. 104 (1): 94–111. doi:10.1016/j.ajhg.2018.11.017. PMC 6323578. PMID 30609410.

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 ==Clinical importance==
-Mutations in this gene in humans have been associated with severe neurodevelopmental defects, [[failure to thrive]], ocular abnormalities, and defects in urogenital and limb morphogenesis.<ref name=Khan2019>{{cite journal | vauthors = Khan TN, Khan K, Sadeghpour A, Reynolds H, Perilla Y, McDonald MT, Gallentine WB, Baig SM, Davis EE, Katsanis N | collaboration =  Task Force for Neonatal Genomics | title = Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies | journal = American Journal of Human Genetics | volume = 104 | issue = 1 | pages = 94–111 | date = January 2019 | pmid = 30609410 | doi = 10.1016/j.ajhg.2018.11.017 }}</ref>
+Mutations in this gene in humans have been associated with severe neurodevelopmental defects, [[failure to thrive]], ocular abnormalities, and defects in urogenital and limb morphogenesis.<ref name=Khan2019>{{cite journal | vauthors = Khan TN, Khan K, Sadeghpour A, Reynolds H, Perilla Y, McDonald MT, Gallentine WB, Baig SM, Davis EE, Katsanis N | collaboration =  Task Force for Neonatal Genomics | title = Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies | journal = American Journal of Human Genetics | volume = 104 | issue = 1 | pages = 94–111 | date = January 2019 | pmid = 30609410 | doi = 10.1016/j.ajhg.2018.11.017 | pmc = 6323578 }}</ref>
 == References ==

Revision as of 07:30, 27 July 2019

Clinical importance

References

Further reading