PARP16

protein-coding

poly(ADP-ribose) polymerase family member 16, the group of Poly(ADP-ribose) polymerases|Small nucleolar RNA protein coding host genes

Gene summary

Enables kinase binding activity; pentosyltransferase activity; and protein serine/threonine kinase activator activity. Involved in IRE1-mediated unfolded protein response; negative regulation of cytoplasmic translation; and protein auto-ADP-ribosylation. Located in endoplasmic reticulum tubular network and nuclear envelope. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C15orf30

MANE transcript

NM_001316943.2

Inheritance

—

ClinVar variants

U:55B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.96

Max pathogenic AF

—

Genomic locus

chr15:65,234,460-65,300,618

External References & Databases

Ensembl (ENSG00000138617)

Transcript & Mutation Effects

hg38 • Region Span ~66.2 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 PARP16 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 52

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001316943.2. 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	1 clinvar	1 clinvar	4
missense			52 clinvar	1 clinvar		53
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	55	2	1	58

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 50 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001316943.2	RefSeq	NP_001303872.1	6	MANE Select
ENST00000649807.2	Ensembl	ENSP00000496935.1	6	MANE Select
NM_001316944.2	RefSeq	NP_001303873.1	4	Standard
NM_017851.6	RefSeq	NP_060321.3	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

protein ADP-ribosylation
endoplasmic reticulum unfolded protein response
NAD biosynthesis via nicotinamide riboside salvage pathway
IRE1-mediated unfolded protein response
negative regulation of cell death

Molecular Function

NAD+ ADP-ribosyltransferase activity
protein binding
kinase binding
protein serine/threonine kinase activator activity

Cellular Component

nuclear envelope
endoplasmic reticulum
endoplasmic reticulum membrane
cytosol
membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000261888
Coding exons: 6
Length: 66159
Individuals with no LoFs: 125703
Homozygous LoFs: 0
Heterozygous LoFs: 45
Defined: 125748
p: 0.000179

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.367	167	181	0.923	0.00000961	2101
Missense (PolyPhen)		54	56.39	0.95762		628
Synonymous	0.0142	77	77.2	0.998	0.00000435	635
Loss of Function	0.139	15	15.6	0.962	9.44e-7	164

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.00043	0.00043	rare
Ashkenazi Jewish	0.00020	0.00020	rare
East Asian	0	0.0	absent
Finnish	0.00028	0.00028	rare
European (Non-Finnish)	0.00011	0.00011	rare
South Asian	0.00023	0.00023	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Intracellular mono-ADP-ribosyltransferase that may play a role in different processes through the mono-ADP-ribosylation of proteins involved in those processes (PubMed:23103912, PubMed:22701565). May play a role in the unfolded protein response (UPR), by ADP-ribosylating and activating EIF2AK3 and ERN1, two important UPR effectors (PubMed:23103912). May also mediate mono- ADP-ribosylation of karyopherin KPNB1 a nuclear import factor (PubMed:22701565). May not modify proteins on arginine, cysteine or glutamate residues compared to other mono-ADP- ribosyltransferases (PubMed:22701565). {ECO:0000269|PubMed:22701565, ECO:0000269|PubMed:23103912}.;

Recessive Scores

pRec: 0.107

Intolerance Scores

LoFtool: 0.830
RVIS EVS: -0.16
RVIS percentile EVS: 41.91

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.652

Gene Damage Prediction

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