ACTR3B

actin related protein 3B, the group of Actin related proteins

Basic information

Region (hg38): 7:152759748-152855378

Links

ENSG00000133627 ∙ NCBI:57180 ∙ ∙ HGNC:17256 ∙ Uniprot:Q9P1U1 ∙ 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 ACTR3B gene.

• Inborn genetic diseases (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACTR3B 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						0
missense			4			4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	4	0	0

Variants in ACTR3B

This is a list of pathogenic ClinVar variants found in the ACTR3B region.

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

Position	Type	Phenotype	Significance	ClinVar
7-152814589-C-T		not specified	Uncertain significance (Feb 06, 2024)
7-152816484-G-A		not specified	Uncertain significance (Jan 31, 2024)
7-152816533-C-T		not specified	Uncertain significance (Feb 22, 2023)
7-152820381-T-A		not specified	Uncertain significance (Feb 28, 2024)
7-152823402-C-T		not specified	Uncertain significance (Feb 27, 2024)
7-152823427-C-T		not specified	Uncertain significance (Jun 28, 2022)
7-152823439-C-T		not specified	Uncertain significance (Oct 26, 2022)
7-152825067-T-C		not specified	Uncertain significance (Jan 04, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ACTR3B	protein_coding	protein_coding	ENST00000256001	12	95630

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.999	0.000892	125739	0	3	125742	0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.97	114	245	0.465	0.0000143	2731
Missense in Polyphen		31	96.526	0.32116		1073
Synonymous	-0.138	92	90.3	1.02	0.00000590	780
Loss of Function	4.42	1	24.7	0.0404	0.00000133	287

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000547	0.0000544
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000101	0.00000879
Middle Eastern	0.0000547	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in the organization of the actin cytoskeleton. May function as ATP-binding component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks. May decrease the metastatic potential of tumors. {ECO:0000269|PubMed:14651955}.
• Pathway: Tight junction - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.142

Intolerance Scores

• loftool: 0.0860
• rvis_EVS: -0.43
• rvis_percentile_EVS: 25.15

Haploinsufficiency Scores

• pHI: 0.239
• hipred: Y
• hipred_score: 0.675
• ghis: 0.632

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.816

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Actr3b

Gene ontology

• Biological process: biological_process;Arp2/3 complex-mediated actin nucleation
• Cellular component: cytoplasm;Arp2/3 protein complex;cell projection;extracellular exosome
• Molecular function: molecular_function;actin binding;ATP binding