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NCAPG2

Synonyms
3KS, CAP-G2, CAPG2, LUZP5, MTB, hCAP-G2
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
13
Likely pathogenic
0
VUS
3,363
Likely benign
11,513
Benign
76

Patient phenotypes

Proportions of phenotypes among 12 patients carrying pathogenic or likely pathogenic variants on NCAPG2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of the musculoskeletal system
41.7%
Abnormality of head or neck
33.3%
Abnormality of the cardiovascular system
33.3%
Abnormality of limbs
25%
Abnormality of the ear
25%
Abnormality of the genitourinary system
25%
Growth abnormality
25%
Abnormality of the eye
16.7%
Abnormality of the breast
8.3%
Abnormality of the digestive system
8.3%
Abnormality of the immune system
8.3%
Abnormality of the integument
8.3%
Abnormality of the respiratory system
8.3%
Abnormality of the voice
8.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%
Neoplasm
0%

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