PARP11

protein-coding

poly(ADP-ribose) polymerase family member 11, the group of Poly(ADP-ribose) polymerases

Gene summary

Enables NAD+ poly-ADP-ribosyltransferase activity and NAD+-protein mono-ADP-ribosyltransferase activity. Involved in protein auto-ADP-ribosylation. Located in nuclear body and nuclear envelope. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C12orf6

MANE transcript

NM_020367.6

Inheritance

—

ClinVar variants

U:39B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.77

Max pathogenic AF

—

Genomic locus

chr12:3,791,047-3,873,448

External References & Databases

Ensembl (ENSG00000111224)

Transcript & Mutation Effects

hg38 • Region Span ~82.4 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 PARP11 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 38

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_020367.6. 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			37 clinvar	1 clinvar		38
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	39	1	0	40

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 31 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_020367.6	RefSeq	NP_065100.2	8	MANE Select
ENST00000228820.9	Ensembl	ENSP00000228820.4	8	MANE Select
NM_001286521.2	RefSeq	NP_001273450.1	6	Standard
NM_001286522.2	RefSeq	NP_001273451.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

nuclear envelope organization
spermatogenesis
protein transport
cell differentiation
mRNA transport

Molecular Function

NAD+ ADP-ribosyltransferase activity

Cellular Component

nuclear envelope
nuclear pore

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000228820
Coding exons: 8
Length: 82396
Individuals with no LoFs: 125680
Homozygous LoFs: 0
Heterozygous LoFs: 68
Defined: 125748
p: 0.000270

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.698	158	185	0.856	0.00000929	2309
Missense (PolyPhen)		56	68.911	0.81264		830
Synonymous	0.0604	59	59.6	0.990	0.00000311	552
Loss of Function	0.931	15	19.4	0.772	0.00000106	218

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00025	0.00025	rare
Latino/Admixed American	0.00012	0.00012	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00027	0.00027	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00040	0.00040	rare
South Asian	0.00023	0.00023	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Plays a role in nuclear envelope stability and nuclear remodeling during spermiogenesis (By similarity). In vitro, exhibits mono(ADP-ribosyl) transferase activity (PubMed:25673562). {ECO:0000250|UniProtKB:Q8CFF0, ECO:0000269|PubMed:25673562}.;

Recessive Scores

pRec: 0.109

Intolerance Scores

LoFtool: 0.671
RVIS EVS: -0.32
RVIS percentile EVS: 31.46

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.539

Gene Damage Prediction

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