PARP9

Chr 3

poly(ADP-ribose) polymerase family member 9

Also known as: ARTD9, BAL, BAL1, MGC:7868

NCBI Gene: 83666 ENSG00000138496 UniProt: Q8IXQ6 OMIM: 612065

PARP9 encodes an ADP-ribosyltransferase that functions in DNA damage repair through non-homologous end joining and regulates immune responses by modulating STAT1 and STAT6 signaling in macrophages. The gene is highly constrained against loss-of-function variants (pLI near 0, LOEUF 0.814), but no clearly defined human disease phenotype has been established from mutations in this gene. PARP9 works in complex with DTX3L to recruit DNA repair proteins including 53BP1, BRCA1, and RAP80 to sites of DNA damage.

OMIM ResearchSummary from RefSeq, UniProt

Enables several functions, including STAT family protein binding activity; pentosyltransferase activity; and transcription corepressor activity. Involved in several processes, including positive regulation of tyrosine phosphorylation of STAT protein; regulation of defense response; and regulation of gene expression. Located in cytosol; nucleoplasm; and site of DNA damage. Part of protein-containing complex. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.81

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.81LOEUF

pLI 0.000

Z-score 2.41

OE 0.55 (0.39–0.81)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

1.01Z-score

OE missense 0.87 (0.80–0.94)

385 obs / 445.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.55 (0.39–0.81)

0≤0.351.4

Missense OE?0.87 (0.80–0.94)

0≤0.61.4

Synonymous OE?0.88

0≤1.21.6

LoF obs/exp: 19 / 34.2Missense obs/exp: 385 / 445.0Syn Z: 1.16

Background carrier burden — how many people carry a rare variant somewhere in PARP9?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 56

939 rare PASS variants

Rare truncating (LoF)

1 in 1,600

138 rare PASS variants

Rare synonymous (reference)

1 in 260

346 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for PARP9. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 76	1 in 1,900
South Asian	~43k	1 in 57	1 in 780
Remaining (unassigned)	~30k	1 in 56	1 in 2,500
European (Finnish)	~27k	1 in 190	none seen
Admixed American	~22k	1 in 92	1 in 2,800
African / African American	~21k	1 in 41	1 in 870
East Asian	~20k	1 in 62	1 in 770
Ashkenazi Jewish	~13k	1 in 210	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 64	≈ 1 in 2,900

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 10 coding exons well covered in gnomAD exomes and genomes.? see exons ↓