CAPG

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

Basic information

Region (hg38): 2:85394753-85418432

Previous symbols: [ "AFCP" ]

Links

ENSG00000042493 ∙ NCBI:822 ∙ OMIM:153615 ∙ HGNC:1474 ∙ Uniprot:P40121 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CAPG gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CAPG gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			12	2	1	15
nonsense						0
start loss						0
frameshift					1	1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	2	3

Variants in CAPG

This is a list of pathogenic ClinVar variants found in the CAPG region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
2-85398051-G-A			Benign (Dec 24, 2018)
2-85398070-T-C		not specified	Uncertain significance (Sep 27, 2022)
2-85398131-T-C		not specified	Uncertain significance (May 23, 2023)
2-85398136-C-T		not specified	Uncertain significance (Jun 22, 2023)
2-85398716-T-G		not specified	Uncertain significance (Sep 20, 2023)
2-85398721-T-C		not specified	Likely benign (Apr 08, 2024)
2-85398764-C-T		not specified	Uncertain significance (May 07, 2024)
2-85398769-T-C			Benign (Dec 11, 2018)
2-85401224-G-A		not specified	Uncertain significance (Mar 02, 2023)
2-85401227-C-A			not provided (-)
2-85401236-G-A		not specified	Uncertain significance (Aug 12, 2021)
2-85401545-C-T		not specified	Likely benign (Sep 22, 2023)
2-85401546-G-A		not specified	Uncertain significance (Mar 16, 2024)
2-85401547-TG-T			Benign (Dec 31, 2019)
2-85401591-C-G		not specified	Uncertain significance (Aug 08, 2022)
2-85401594-G-A		not specified	Uncertain significance (Apr 04, 2023)
2-85401608-C-T		not specified	Uncertain significance (Sep 01, 2021)
2-85401639-C-G		not specified	Uncertain significance (Dec 28, 2022)
2-85401668-C-T		not specified	Uncertain significance (Nov 07, 2022)
2-85401874-T-C		not specified	Likely benign (Jan 22, 2024)
2-85401889-G-A		not specified	Uncertain significance (Apr 12, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CAPG	protein_coding	protein_coding	ENST00000263867	9	23685

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.36e-14	0.0204	125475	2	271	125748	0.00109

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.366	190	205	0.928	0.0000119	2251
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0113	0.0111
Ashkenazi Jewish	0.00	0.00
East Asian	0.000272	0.000272
Finnish	0.0000484	0.0000462
European (Non-Finnish)	0.000437	0.000404
Middle Eastern	0.000272	0.000272
South Asian	0.000720	0.000719
Other	0.000327	0.000326

dbNSFP

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.
• Pathway: 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 (Consensus)

Recessive Scores

• pRec: 0.281

Intolerance Scores

• loftool: 0.934
• rvis_EVS: 0.51
• rvis_percentile_EVS: 80.2

Haploinsufficiency Scores

• pHI: 0.142
• hipred: N
• hipred_score: 0.324
• ghis: 0.471

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.254

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Capg
• Phenotype: cellular phenotype; hematopoietic system phenotype; immune system phenotype

Gene ontology

• Biological process: extracellular matrix disassembly;barbed-end actin filament capping;protein-containing complex assembly;positive regulation of podosome assembly
• Cellular component: nucleus;nucleoplasm;nucleolus;cytoplasm;centriole;F-actin capping protein complex;melanosome;extracellular exosome;mitotic spindle;Flemming body
• Molecular function: protein binding;protein domain specific binding;protein-containing complex binding;cadherin binding;actin filament binding