NCAPG2: Difference between revisions

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'''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]].<ref name="pmid14532007">{{cite journal | vauthors = Ono T, Losada A, Hirano M, Myers MP, Neuwald AF, Hirano T | title = Differential contributions of condensin I and condensin II to mitotic chromosome architecture in vertebrate cells | journal = Cell | volume = 115 | issue = 1 | pages = 109–21 | date = October 2003 | pmid = 14532007 | pmc =  | doi = 10.1016/S0092-8674(03)00724-4 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: NCAPG2 non-SMC condensin II complex, subunit G2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54892| access-date = }}</ref> 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<ref>{{cite journal | vauthors = 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 | title = The condensin component NCAPG2 regulates microtubule-kinetochore attachment through recruitment of Polo-like kinase 1 to kinetochores | journal = Nature Communications | volume = 5 | pages = 4588 | date = August 2014 | pmid = 25109385 | doi = 10.1038/ncomms5588 }}</ref>
'''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]].<ref name="pmid14532007">{{cite journal | vauthors = Ono T, Losada A, Hirano M, Myers MP, Neuwald AF, Hirano T | title = Differential contributions of condensin I and condensin II to mitotic chromosome architecture in vertebrate cells | journal = Cell | volume = 115 | issue = 1 | pages = 109–21 | date = October 2003 | pmid = 14532007 | pmc =  | doi = 10.1016/S0092-8674(03)00724-4 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: NCAPG2 non-SMC condensin II complex, subunit G2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54892| access-date = }}</ref> 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<ref>{{cite journal | vauthors = 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 | title = The condensin component NCAPG2 regulates microtubule-kinetochore attachment through recruitment of Polo-like kinase 1 to kinetochores | journal = Nature Communications | volume = 5 | pages = 4588 | date = August 2014 | pmid = 25109385 | doi = 10.1038/ncomms5588 }}</ref>
==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>


== References ==
== References ==

Latest revision as of 13:02, 5 January 2019

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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.[1][2] 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[3]

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.[4]

References

  1. 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.
  2. "Entrez Gene: NCAPG2 non-SMC condensin II complex, subunit G2".
  3. 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.
  4. 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. PMID 30609410.

Further reading