PARP12

protein-coding

poly(ADP-ribose) polymerase family member 12, the group of Zinc fingers CCCH-type|Poly(ADP-ribose) polymerases

Gene summary

Enables NAD+-protein mono-ADP-ribosyltransferase activity. Involved in protein auto-ADP-ribosylation and transepithelial transport. Is active in trans-Golgi network. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

ZC3HDC1

MANE transcript

NM_022750.4

Inheritance

—

ClinVar variants

U:117B:8

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.51

Max pathogenic AF

—

Genomic locus

chr7:140,023,749-140,062,951

External References & Databases

Ensembl (ENSG00000059378)

Transcript & Mutation Effects

hg38 • Region Span ~39.2 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 PARP12 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 107

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_022750.4. 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			3 clinvar	1 clinvar	2 clinvar	6
missense			107 clinvar	4 clinvar	1 clinvar	112
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			6 clinvar			6
Total	0	0	117	5	3	125

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 43 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_022750.4	RefSeq	NP_073587.1	12	MANE Select
ENST00000263549.8	Ensembl	ENSP00000263549.3	12	MANE Select
ENST00000473341.5	Ensembl	ENSP00000417730.1	7	Standard
ENST00000484111.1	Ensembl	ENSP00000418640.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

RNA binding
NAD+ ADP-ribosyltransferase activity
metal ion binding

Cellular Component

nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000263549
Coding exons: 12
Length: 39978
Individuals with no LoFs: 125689
Homozygous LoFs: 0
Heterozygous LoFs: 59
Defined: 125748
p: 0.000235

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.956	321	373	0.861	0.0000210	4556
Missense (PolyPhen)		93	139.55	0.66641		1561
Synonymous	-0.972	171	156	1.10	0.0000100	1332
Loss of Function	2.61	17	33.2	0.512	0.00000165	376

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0.00030	0.00030	rare
East Asian	0	0.0	absent
Finnish	0.00014	0.000092	rare
European (Non-Finnish)	0.00042	0.00041	rare
South Asian	0.00016	0.00016	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.104

Intolerance Scores

LoFtool: 0.670
RVIS EVS: -0.66
RVIS percentile EVS: 16.02

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.861

Gene Damage Prediction

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