NCAPG2

Chr 7AR

non-SMC condensin II complex subunit G2

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

NCBI Gene: 54892ENSG00000146918UniProt: Q86XI2

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]

Primary Disease Associations & Inheritance

Khan-Khan-Katsanis syndromeMIM #618460
AR
326
ClinVar variants
87
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— NCAPG2
📋
ClinVar Variants
87 Pathogenic / Likely Pathogenic· 169 VUS of 326 total submissions
Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 502

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

326 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic80
Likely Pathogenic7
VUS169
Likely Benign34
Benign15
Conflicting1
80
Pathogenic
7
Likely Pathogenic
169
VUS
34
Likely Benign
15
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
80
0
80
Likely Pathogenic
0
0
7
0
7
VUS
4
128
37
0
169
Likely Benign
0
16
6
12
34
Benign
0
6
6
3
15
Conflicting
—1
Total415013615306

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

NCAPG2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Gene2Phenotype Curations

NCAPG2-related severe neurodevelopmental syndrome

strong
ARUndeterminedAltered Gene Product Structure
Dev. Disorders
G2P ↗
missense variantinframe deletioninframe insertion

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Khan-Khan-Katsanis syndrome

MIM #618460

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
NCAPG2 promotes prostate cancer malignancy and stemness via STAT3/c-MYC signaling.
Zhang E et al.·J Transl Med
2024
Predictive gene expression signature diagnoses neonatal sepsis before clinical presentation.
An AY et al.·EBioMedicine
2024
Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies.
Khan TN et al.·Am J Hum Genet
2019
NCAPG2 facilitates glioblastoma cells' malignancy and xenograft tumor growth via HBO1 activation by phosphorylation.
Wu J et al.·Cell Tissue Res
2021
Combined deletion of two Condensin II system genes (NCAPG2 and MCPH1) in a case of severe microcephaly and mental deficiency.
Perche O et al.·Eur J Med Genet
2013Case report
Novel significant stage-specific differentially expressed genes in hepatocellular carcinoma.
Sarathi A et al.·BMC Cancer
2019
[PDZ-binding kinase as a prognostic biomarker for pancreatic cancer: a pan-cancer analysis and validation in pancreatic adenocarcinoma cells].
Wang J et al.·Nan Fang Yi Ke Da Xue Xue Bao
2025
A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype.
Papoulidis I et al.·Gene
2014Case report
Presentation of m.3243A>G (MT-TL1; tRNALeu) variant with focal neurology in infancy.
Mordaunt DA et al.·Am J Med Genet A
2015Case report
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools