NCAPG

protein-coding

non-SMC condensin I complex subunit G, the group of Condensin I subunits|Armadillo like helical domain containing

Gene summary

This gene encodes a subunit of the condensin complex, which is responsible for the condensation and stabilization of chromosomes during mitosis and meiosis. Phosphorylation of the encoded protein activates the condensin complex. There are pseudogenes for this gene on chromosomes 8 and 15. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

MANE transcript

NM_022346.5

Inheritance

—

ClinVar variants

U:124B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.41

Max pathogenic AF

—

Genomic locus

chr4:17,810,979-17,844,865

External References & Databases

Ensembl (ENSG00000109805)

Transcript & Mutation Effects

hg38 • Region Span ~33.9 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to NCAPG variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 118

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_022346.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	1 clinvar		2
missense			121 clinvar	2 clinvar		123
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	124	3	0	127

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 35 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_022346.5	RefSeq	NP_071741.2	21	MANE Select
ENST00000251496.7	Ensembl	ENSP00000251496.2	21	MANE Select
ENST00000510063.1	Ensembl	ENSP00000425625.1	7	Standard
ENST00000514176.5	Ensembl	ENSP00000423042.1	5	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
ncapg	Danio rerio	Structure: gastrula cell Quality: morphology abnormal

Gene / Model

Organism

Observed Phenotype

ncapg

Danio rerio

Structure: gastrula cell

Quality: morphology

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Condensation of Prometaphase Chromosomes
Mitotic Prometaphase
M Phase
Cell Cycle
Cell Cycle, Mitotic

Biological Process

mitotic chromosome condensation
cell division

Molecular Function

protein binding

Cellular Component

condensed chromosome, centromeric region
condensed chromosome
condensin complex
nucleus
cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000251496
Coding exons: 21
Length: 33961
Individuals with no LoFs: 125676
Homozygous LoFs: 0
Heterozygous LoFs: 69
Defined: 125745
p: 0.000274

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.10	427	496	0.861	0.0000238	6635
Missense (PolyPhen)		69	92.714	0.74422		1238
Synonymous	1.56	155	182	0.853	0.00000910	1922
Loss of Function	3.69	19	46.0	0.413	0.00000211	669

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000063	0.000062	rare
Latino/Admixed American	0.00012	0.00012	rare
Ashkenazi Jewish	0.00021	0.00020	rare
East Asian	0.00034	0.00033	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00027	0.00025	rare
South Asian	0.00079	0.00065	rare
Other	0.0010	0.00098	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases. {ECO:0000269|PubMed:11136719}.;

Recessive Scores

pRec: 0.0928

Intolerance Scores

LoFtool: 0.775
RVIS EVS: -0.42
RVIS percentile EVS: 25.83

Essentials

Essential (CRISPR): E
Essential (CRISPR2): E
Essential (gene trap): E
Indispensability pred.: E
Indispensability score: 0.992

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium