ACTR8

protein-coding

actin related protein 8, the group of Actin related proteins|INO80 complex

Gene summary

Predicted to enable mRNA binding activity. Involved in several processes, including positive regulation of DNA-templated transcription; regulation of DNA metabolic process; and regulation of chromosome organization. Located in nucleoplasm. Part of Ino80 complex. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_022899.5

Inheritance

—

ClinVar variants

U:90

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.72

Max pathogenic AF

—

Genomic locus

chr3:53,867,066-53,882,152

External References & Databases

Ensembl (ENSG00000113812)

Transcript & Mutation Effects

hg38 • Region Span ~15.1 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 ACTR8 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 79

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_022899.5. 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			3 clinvar			3
missense			83 clinvar			83
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	90	0	0	90

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 26 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_022899.5	RefSeq	NP_075050.3	13	MANE Select
ENST00000335754.8	Ensembl	ENSP00000336842.3	13	MANE Select
NM_001410774.1	RefSeq	NP_001397703.1	11	Standard
ENST00000482349.5	Ensembl	ENSP00000419429.1	11	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

DNA Repair
Post-translational protein modification
Metabolism of proteins
UCH proteinases
Deubiquitination

Biological Process

DNA repair
DNA recombination
chromatin remodeling
cell cycle
protein deubiquitination

Molecular Function

protein binding
ATP binding

Cellular Component

nucleus
nucleoplasm
centrosome
Ino80 complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000335754
Coding exons: 13
Length: 15137
Individuals with no LoFs: 125618
Homozygous LoFs: 0
Heterozygous LoFs: 130
Defined: 125748
p: 0.000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.23	285	350	0.815	0.0000185	4080
Missense (PolyPhen)		120	132.22	0.90761		1522
Synonymous	0.532	121	129	0.940	0.00000704	1189
Loss of Function	1.61	28	38.9	0.721	0.00000236	402

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00095	0.00092	rare
Latino/Admixed American	0.00067	0.00067	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00098	0.00098	rare
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0.00047	0.00044	rare
South Asian	0.00052	0.00049	rare
Other	0.00099	0.00098	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Plays an important role in the functional organization of mitotic chromosomes. Exhibits low basal ATPase activity, and unable to polymerize.;

Recessive Scores

pRec: 0.111

Intolerance Scores

LoFtool: 0.396
RVIS EVS: -0.62
RVIS percentile EVS: 17.31

Essentials

Essential (CRISPR): E
Essential (CRISPR2): E
Essential (gene trap): E
Indispensability pred.: E
Indispensability score: 0.887

Gene Damage Prediction

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