PARPBP

protein-coding

PARP1 binding protein

Gene summary

Predicted to enable DNA binding activity. Involved in negative regulation of double-strand break repair via homologous recombination. Located in chromatin and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C12orf48

MANE transcript

NM_017915.5

Inheritance

—

ClinVar variants

U:79B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.03

Max pathogenic AF

—

Genomic locus

chr12:102,120,183-102,197,520

External References & Databases

Ensembl (ENSG00000185480)

Transcript & Mutation Effects

hg38 • Region Span ~77.3 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 PARPBP variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 76

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_017915.5. 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				1 clinvar		1
missense			74 clinvar	3 clinvar		77
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	79	4	0	83

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 146 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_017915.5	RefSeq	NP_060385.3	10	MANE Select
ENST00000327680.7	Ensembl	ENSP00000332915.3	10	MANE Select
NM_001319988.2	RefSeq	NP_001306917.1	11	Standard
NM_001319993.2	RefSeq	NP_001306922.1	9	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

DNA repair
negative regulation of double-strand break repair via homologous recombination

Molecular Function

DNA binding
protein binding

Cellular Component

chromatin
nucleoplasm
cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000358383
Coding exons: 10
Length: 77343
Individuals with no LoFs: 125283
Homozygous LoFs: 4
Heterozygous LoFs: 444
Defined: 125731
p: 0.00178

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.331	306	290	1.05	0.0000137	3824
Missense (PolyPhen)		82	82.092	0.99888		1205
Synonymous	0.623	96	104	0.922	0.00000519	1063
Loss of Function	-0.149	24	23.2	1.03	0.00000110	332

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00056	0.00055	rare
Latino/Admixed American	0.00082	0.00081	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.019	0.019	notable
Finnish	0.00061	0.00060	rare
European (Non-Finnish)	0.00041	0.00040	rare
South Asian	0.00042	0.00036	rare
Other	0.00050	0.00049	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Required to suppress inappropriate homologous recombination, thereby playing a central role DNA repair and in the maintenance of genomic stability. Antagonizes homologous recombination by interfering with the formation of the RAD51-DNA homologous recombination structure. Binds single-strand DNA and poly(A) homopolymers. Positively regulate the poly(ADP- ribosyl)ation activity of PARP1; however such function may be indirect. {ECO:0000269|PubMed:20931645, ECO:0000269|PubMed:22153967}.;

Recessive Scores

pRec: 0.0848

Intolerance Scores

RVIS EVS: 0.06
RVIS percentile EVS: 58.85

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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