ATAD5

protein-coding

ATPase family AAA domain containing 5, the group of AAA ATPases

Gene summary

Enables DNA clamp unloader activity. Involved in positive regulation of DNA replication and positive regulation of cell cycle G2/M phase transition. Part of Elg1 RFC-like complex. Biomarker of neurilemmoma. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C17orf41

MANE transcript

NM_024857.5

Inheritance

—

ClinVar variants

U:207B:38

Top phenotype

ATAD5-related disorder

gnomAD constraint

pLI —, LoF o/e 0.12

Max pathogenic AF

—

Genomic locus

chr17:30,831,966-30,895,869

External References & Databases

Ensembl (ENSG00000176208)

Transcript & Mutation Effects

hg38 • Region Span ~63.9 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 ATAD5 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 207

ATAD5-related disorderTotal: 25

not providedTotal: 17

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_024857.5. 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			2 clinvar	10 clinvar	5 clinvar	17
missense			197 clinvar	19 clinvar	4 clinvar	220
nonsense			5 clinvar			5
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	207	29	9	245

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 18 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_024857.5	RefSeq	NP_079133.3	23	MANE Select
ENST00000321990.5	Ensembl	ENSP00000313171.4	23	MANE Select
ENST00000578295.5	Ensembl	ENSP00000463102.1	15	Standard
ENST00000933271.1	Ensembl	ENSP00000603330.1	23	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

positive regulation of B cell proliferation
nuclear DNA replication
B cell proliferation
signal transduction in response to DNA damage
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator

Molecular Function

DNA binding
protein binding
ATP binding
DNA clamp unloader activity

Cellular Component

nucleus
Elg1 RFC-like complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000321990
Coding exons: 23
Length: 63900
Individuals with no LoFs: 125733
Homozygous LoFs: 0
Heterozygous LoFs: 11
Defined: 125744
p: 0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.89	725	883	0.821	0.0000425	12213
Missense (PolyPhen)		108	198.24	0.54479		2834
Synonymous	2.08	267	314	0.851	0.0000158	3339
Loss of Function	7.09	9	75.4	0.119	0.00000390	1111

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00013	0.00012	rare
Latino/Admixed American	0.00015	0.00012	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000037	0.000035	rare
South Asian	0.000037	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Involved in DNA damage response. Involved in a RAD9A- related damage checkpoint, a pathway that is important in determining whether DNA damage is compatible with cell survival or whether it requires cell elimination by apoptosis. Modulates the RAD9A interaction with BCL2 and thereby induces DNA damages- induced apoptosis. {ECO:0000269|PubMed:15983387}.;

Intolerance Scores

LoFtool: 0.372
RVIS EVS: -0.05
RVIS percentile EVS: 48.95

Essentials

Essential (CRISPR): E
Essential (CRISPR2): S
Essential (gene trap): E
Indispensability pred.: E
Indispensability score: 0.590

Gene Damage Prediction

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