PARP2

poly(ADP-ribose) polymerase 2, the group of Poly(ADP-ribose) polymerases

Basic information

Region (hg38): 14:20343614-20357904

Previous symbols: [ "ADPRTL2" ]

Links

ENSG00000129484 ∙ NCBI:10038 ∙ OMIM:607725 ∙ HGNC:272 ∙ Uniprot:Q9UGN5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PARP2 gene.

• Inborn genetic diseases (20 variants)
• not provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PARP2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	2	3
missense			19	1	2	22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	2	4

Variants in PARP2

This is a list of pathogenic ClinVar variants found in the PARP2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
14-20343658-G-C		not specified	Uncertain significance (May 25, 2022)
14-20343660-C-G		not specified	Uncertain significance (Oct 17, 2023)
14-20343676-G-T		not specified	Uncertain significance (Feb 28, 2023)
14-20343678-A-G		not specified	Likely benign (Apr 24, 2023)
14-20345028-A-C		not specified	Uncertain significance (Sep 25, 2023)
14-20345100-G-A		not specified	Uncertain significance (Nov 08, 2022)
14-20345124-C-G		not specified	Uncertain significance (Jan 09, 2024)
14-20345429-C-G		not specified	Uncertain significance (Dec 06, 2021)
14-20346890-G-A		not specified	Uncertain significance (Dec 13, 2023)
14-20351050-G-A		not specified	Uncertain significance (Jan 10, 2023)
14-20351068-G-A			Benign (Nov 20, 2018)
14-20351073-G-A		not specified	Uncertain significance (Feb 22, 2023)
14-20351080-G-A		not specified	Uncertain significance (Mar 11, 2022)
14-20351102-C-T			Likely benign (Nov 20, 2018)
14-20354109-G-C		not specified	Uncertain significance (Feb 16, 2023)
14-20354149-A-G			Benign (Feb 01, 2024)
14-20354860-T-C		not specified	Uncertain significance (Mar 06, 2023)
14-20354886-C-T		not specified	Uncertain significance (Jan 26, 2022)
14-20354901-A-G		not specified	Uncertain significance (Jan 26, 2022)
14-20354902-T-C		not specified	Uncertain significance (Dec 14, 2023)
14-20354910-T-C		not specified	Uncertain significance (Mar 01, 2023)
14-20355757-G-A		not specified	Uncertain significance (Apr 04, 2023)
14-20355804-C-G		not specified	Uncertain significance (Sep 12, 2023)
14-20355963-T-C			Benign (Nov 20, 2018)
14-20356030-A-G		not specified	Uncertain significance (Mar 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PARP2	protein_coding	protein_coding	ENST00000250416	16	14324

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.33e-13	0.625	124554	1	241	124796	0.000970

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.490	292	317	0.923	0.0000159	3839
Missense in Polyphen		93	107.36	0.86624		1370
Synonymous	1.40	94	113	0.833	0.00000538	1057
Loss of Function	1.60	25	35.3	0.709	0.00000181	424

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00520	0.00514
Ashkenazi Jewish	0.00	0.00
East Asian	0.000505	0.000501
Finnish	0.00	0.00
European (Non-Finnish)	0.000479	0.000477
Middle Eastern	0.000505	0.000501
South Asian	0.00208	0.00206
Other	0.000672	0.000660

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in the base excision repair (BER) pathway, by catalyzing the poly(ADP-ribosyl)ation of a limited number of acceptor proteins involved in chromatin architecture and in DNA metabolism (PubMed:10364231, PubMed:28190768). This modification follows DNA damages and appears as an obligatory step in a detection/signaling pathway leading to the reparation of DNA strand breaks (PubMed:10364231). Mediates serine ADP-ribosylation of target proteins following interaction with HPF1; HPF1 conferring serine specificity (PubMed:28190768). {ECO:0000269|PubMed:10364231, ECO:0000269|PubMed:28190768}.
• Pathway: Base excision repair - Homo sapiens (human);Necroptosis - Homo sapiens (human);Apoptosis - Homo sapiens (human);NAD+ biosynthetic pathways;HDR through MMEJ (alt-NHEJ);DNA Repair;DNA Double-Strand Break Repair;Homology Directed Repair;POLB-Dependent Long Patch Base Excision Repair;Resolution of AP sites via the multiple-nucleotide patch replacement pathway;Resolution of Abasic Sites (AP sites);Base Excision Repair;DNA Damage Recognition in GG-NER;Formation of Incision Complex in GG-NER;Dual Incision in GG-NER;Global Genome Nucleotide Excision Repair (GG-NER);Regulation of Telomerase;Nucleotide Excision Repair (Consensus)

Recessive Scores

• pRec: 0.120

Intolerance Scores

• loftool: 0.981
• rvis_EVS: -0.07
• rvis_percentile_EVS: 48.69

Haploinsufficiency Scores

• pHI: 0.0906
• hipred: Y
• hipred_score: 0.532
• ghis: 0.595

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.952

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Parp2
• Phenotype: homeostasis/metabolism phenotype; cellular phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; embryo phenotype

Gene ontology

• Biological process: DNA repair;base-excision repair;double-strand break repair;protein ADP-ribosylation;peptidyl-serine ADP-ribosylation;positive regulation of cell growth involved in cardiac muscle cell development;protein poly-ADP-ribosylation;extrinsic apoptotic signaling pathway;negative regulation of neuron death
• Cellular component: nucleus;nucleoplasm;nucleolus
• Molecular function: DNA binding;NAD+ ADP-ribosyltransferase activity;protein binding;protein ADP-ribosylase activity