ACTRT2

actin related protein T2, the group of Actin related proteins

Basic information

Region (hg38): 1:3021467-3022903

Links

ENSG00000169717 ∙ NCBI:140625 ∙ OMIM:608535 ∙ HGNC:24026 ∙ Uniprot:Q8TDY3 ∙ 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 ACTRT2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACTRT2 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			26			26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	26	1	0

Variants in ACTRT2

This is a list of pathogenic ClinVar variants found in the ACTRT2 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-3021702-G-A		not specified	Uncertain significance (Mar 06, 2023)
1-3021715-C-G		not specified	Uncertain significance (Sep 01, 2021)
1-3021730-A-G		not specified	Uncertain significance (Oct 26, 2022)
1-3021825-C-T		not specified	Uncertain significance (Nov 17, 2022)
1-3021912-G-A		not specified	Uncertain significance (Sep 09, 2021)
1-3021933-T-C		not specified	Uncertain significance (Jan 24, 2024)
1-3022045-G-A		not specified	Uncertain significance (Jun 22, 2021)
1-3022077-T-A		not specified	Uncertain significance (Nov 16, 2021)
1-3022083-G-A		not specified	Uncertain significance (Aug 12, 2021)
1-3022186-T-A		not specified	Uncertain significance (Apr 08, 2022)
1-3022218-G-A		not specified	Uncertain significance (Mar 18, 2024)
1-3022236-G-A		not specified	Uncertain significance (Oct 10, 2023)
1-3022246-G-A		not specified	Uncertain significance (Jan 09, 2024)
1-3022286-C-T			Likely benign (Jan 01, 2024)
1-3022298-C-A		not specified	Uncertain significance (Jun 26, 2023)
1-3022323-G-T		not specified	Uncertain significance (Aug 10, 2021)
1-3022357-C-A		not specified	Uncertain significance (Jan 31, 2024)
1-3022368-G-A		not specified	Uncertain significance (Dec 02, 2021)
1-3022390-C-T		not specified	Uncertain significance (Apr 09, 2024)
1-3022450-C-T		not specified	Uncertain significance (Jun 04, 2024)
1-3022462-C-T		not specified	Uncertain significance (Apr 28, 2022)
1-3022479-G-A		not specified	Uncertain significance (Feb 05, 2024)
1-3022582-T-C		not specified	Uncertain significance (Jul 30, 2023)
1-3022591-C-T		not specified	Uncertain significance (Oct 12, 2021)
1-3022627-G-A		not specified	Uncertain significance (Aug 10, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ACTRT2	protein_coding	protein_coding	ENST00000378404	1	1420

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000477	0.689	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.403	256	238	1.07	0.0000154	2466
Missense in Polyphen		92	85.551	1.0754		889
Synonymous	-1.12	135	119	1.13	0.00000944	794
Loss of Function	0.809	6	8.55	0.702	3.69e-7	102

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.447

Intolerance Scores

• loftool: 0.164
• rvis_EVS: 0.49
• rvis_percentile_EVS: 79.46

Haploinsufficiency Scores

• pHI: 0.0469
• hipred: N
• hipred_score: 0.170
• ghis: 0.411

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.200

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Actrt2

Gene ontology

• Cellular component: cytoplasm;cytoskeleton