CAPG

protein-coding

capping actin protein, gelsolin like, the group of Gelsolin/villins

Gene summary

This gene encodes a member of the gelsolin/villin family of actin-regulatory proteins. The encoded protein reversibly blocks the barbed ends of F-actin filaments in a Ca2+ and phosphoinositide-regulated manner, but does not sever preformed actin filaments. By capping the barbed ends of actin filaments, the encoded protein contributes to the control of actin-based motility in non-muscle cells. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2012]

Previous symbols:

AFCP

MANE transcript

NM_001747.4

Inheritance

—

ClinVar variants

U:55B:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1

Max pathogenic AF

—

Genomic locus

chr2:85,394,753-85,418,432

External References & Databases

Ensembl (ENSG00000042493)

Transcript & Mutation Effects

hg38 • Region Span ~23.7 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 CAPG variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 42

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001747.4. 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			2 clinvar	1 clinvar	1 clinvar	4
missense			45 clinvar	3 clinvar	1 clinvar	49
nonsense			2 clinvar			2
start loss						0
frameshift					1 clinvar	1
splice donor/acceptor (+/-2bp)			6 clinvar			6
Total	0	0	55	4	3	62

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 117 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001747.4	RefSeq	NP_001738.2	9	MANE Select
ENST00000263867.9	Ensembl	ENSP00000263867.4	9	MANE Select
NM_001256139.2	RefSeq	NP_001243068.1	9	Standard
NM_001256140.2	RefSeq	NP_001243069.1	9	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

miR-targeted genes in epithelium - TarBase
miR-targeted genes in leukocytes - TarBase
miR-targeted genes in lymphocytes - TarBase
miR-targeted genes in muscle cell - TarBase
TYROBP Causal Network

Biological Process

extracellular matrix disassembly
barbed-end actin filament capping
protein-containing complex assembly
positive regulation of podosome assembly

Molecular Function

protein binding
protein domain specific binding
protein-containing complex binding
cadherin binding
actin filament binding

Cellular Component

nucleus
nucleoplasm
nucleolus
cytoplasm
centriole

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000263867
Coding exons: 9
Length: 23685
Individuals with no LoFs: 125475
Homozygous LoFs: 2
Heterozygous LoFs: 271
Defined: 125748
p: 0.00109

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.366	190	205	0.928	0.0000119	2251
Missense (PolyPhen)		77	81.765	0.94172		937
Synonymous	0.169	84	86.0	0.977	0.00000499	694
Loss of Function	-0.0138	20	19.9	1.00	0.00000102	208

Population LoF Frequency

Population	CAF	p-value	Status
African	0.010	0.010	notable
Latino/Admixed American	0.00098	0.00098	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00027	0.00027	rare
Finnish	0.000048	0.000046	rare
European (Non-Finnish)	0.00044	0.00040	rare
South Asian	0.00072	0.00072	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Calcium-sensitive protein which reversibly blocks the barbed ends of actin filaments but does not sever preformed actin filaments. May play an important role in macrophage function. May play a role in regulating cytoplasmic and/or nuclear structures through potential interactions with actin. May bind DNA.;

Recessive Scores

pRec: 0.281

Intolerance Scores

LoFtool: 0.934
RVIS EVS: 0.51
RVIS percentile EVS: 80.2

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.254

Gene Damage Prediction

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