ACTR5

protein-coding

actin related protein 5, the group of INO80 complex |Actin related proteins

Gene summary

Predicted to enable enzyme regulator activity. Involved in several processes, including DNA repair; positive regulation of DNA-templated transcription; and regulation of DNA metabolic process. Located in cytoplasm and nucleus. Part of Ino80 complex. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_024855.4

Inheritance

—

ClinVar variants

U:83B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.68

Max pathogenic AF

—

Genomic locus

chr20:38,748,460-38,772,520

External References & Databases

Ensembl (ENSG00000101442)

Transcript & Mutation Effects

hg38 • Region Span ~24.1 kb

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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 ACTR5 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 79

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_024855.4. 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			1 clinvar			1
missense			80 clinvar	2 clinvar		82
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	83	2	0	85

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 20 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_024855.4	RefSeq	NP_079131.3	9	MANE Select
ENST00000243903.6	Ensembl	ENSP00000243903.4	9	MANE Select
ENST00000917421.1	Ensembl	ENSP00000587480.1	2	Standard
ENST00000917421.2	Ensembl	ENSP00000587480.1	2	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

double-strand break repair
DNA recombination
protein deubiquitination
UV-damage excision repair

Molecular Function

protein binding

Cellular Component

nucleus
nucleoplasm
cytoplasm
Ino80 complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000243903
Coding exons: 9
Length: 23750
Individuals with no LoFs: 125682
Homozygous LoFs: 0
Heterozygous LoFs: 66
Defined: 125748
p: 0.000262

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.405	310	331	0.937	0.0000184	3910
Missense (PolyPhen)		125	143.01	0.87408		1652
Synonymous	-1.25	149	131	1.14	0.00000703	1212
Loss of Function	1.54	18	26.5	0.678	0.00000127	316

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00019	0.00018	rare
Latino/Admixed American	0.00018	0.00017	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0011	0.0010	notable
Finnish	0	0.0	absent
European (Non-Finnish)	0.00027	0.00026	rare
South Asian	0.00026	0.00026	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair. Involved in DNA double-strand break repair and UV-damage excision repair. {ECO:0000269|PubMed:19014934, ECO:0000269|PubMed:20855601}.;

Recessive Scores

pRec: 0.108

Intolerance Scores

LoFtool: 0.277
RVIS EVS: 0.27
RVIS percentile EVS: 70.58

Essentials

Essential (CRISPR): E
Essential (CRISPR2): S
Essential (gene trap): K
Indispensability pred.: E
Indispensability score: 0.792

Gene Damage Prediction

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