NCAPG2

Chr 7AR

non-SMC condensin II complex subunit G2

Also known as: 3KS, CAP-G2, CAPG2, LUZP5, MTB, hCAP-G2

NCBI Gene: 54892 ENSG00000146918 UniProt: Q86XI2 OMIM: 608532

The protein is a regulatory subunit of the condensin-2 complex that establishes mitotic chromosome architecture and maintains physical rigidity of the chromatid axis during cell division. Mutations cause autosomal dominant neurodevelopmental disorders with intellectual disability, developmental delay, and various congenital anomalies. This gene is highly constrained against loss-of-function variants, indicating that haploinsufficiency is likely not tolerated in the general population.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a protein that belongs to the Condensin2nSMC family of proteins. The encoded protein is a regulatory subunit of the condensin II complex which, along with the condensin I complex, plays a role in chromosome assembly and segregation during mitosis. A similar protein in mouse is required for early development of the embryo. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Khan-Khan-Katsanis syndromeMIM #618460

Clinical highlights

Gene-disease validity (ClinGen)

Khan-Khan-Katsanis syndrome · ARLimitednot for standalone diagnostic reporting

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.30

LOEUF· LoF intol.

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Mechanism