PARP15

protein-coding

poly(ADP-ribose) polymerase family member 15, the group of Macro domain containing|Poly(ADP-ribose) polymerases

Gene summary

Enables NAD+ binding activity; pentosyltransferase activity; and transcription corepressor activity. Involved in negative regulation of transcription by RNA polymerase II and protein poly-ADP-ribosylation. Predicted to be active in cytoplasm and nucleus. Biomarker of atherosclerosis. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001113523.3

Inheritance

—

ClinVar variants

U:92B:13

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.64

Max pathogenic AF

—

Genomic locus

chr3:122,577,628-122,639,047

External References & Databases

Ensembl (ENSG00000173200)

Transcript & Mutation Effects

hg38 • Region Span ~61.4 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 PARP15 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 99

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001113523.3. 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						0
missense			90 clinvar	11 clinvar	2 clinvar	103
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	92	11	2	105

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 35 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001113523.3	RefSeq	NP_001106995.1	12	MANE Select
ENST00000464300.7	Ensembl	ENSP00000417214.2	12	MANE Select
NM_001308320.2	RefSeq	NP_001295249.1	9	Standard
NM_001308321.2	RefSeq	NP_001295250.1	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

negative regulation of transcription by RNA polymerase II
protein poly-ADP-ribosylation

Molecular Function

transcription corepressor activity
NAD+ ADP-ribosyltransferase activity
protein binding
NAD+ binding

Cellular Component

nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000464300
Coding exons: 12
Length: 61446
Individuals with no LoFs: 125561
Homozygous LoFs: 1
Heterozygous LoFs: 178
Defined: 125740
p: 0.000712

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.631	325	359	0.906	0.0000175	4417
Missense (PolyPhen)		69	80.073	0.86171		1020
Synonymous	0.925	119	133	0.898	0.00000699	1338
Loss of Function	1.72	17	26.5	0.640	0.00000122	338

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.00068	0.00067	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0074	0.0074	notable
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00013	0.00011	rare
South Asian	0.00014	0.00013	rare
Other	0.00049	0.00049	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Possesses ADP-ribosyltransferase activity (PubMed:16061477, PubMed:25635049). Transcriptional repressor (PubMed:16061477). {ECO:0000269|PubMed:16061477, ECO:0000269|PubMed:25635049}.;

Recessive Scores

pRec: 0.0791

Intolerance Scores

LoFtool: 0.987
RVIS EVS: 2.62
RVIS percentile EVS: 98.79

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.188

Gene Damage Prediction

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