Gene Gene information from NCBI Gene database.
Entrez ID 84875
Gene name Poly(ADP-ribose) polymerase family member 10
Gene symbol PARP10
Synonyms (NCBI Gene)
ARTD10
Chromosome 8
Chromosome location 8q24.3
Summary Poly(ADP-ribose) polymerases (PARPs), such as PARP10, regulate gene transcription by altering chromatin organization by adding ADP-ribose to histones. PARPs can also function as transcriptional cofactors (Yu et al., 2005 [PubMed 15674325]).[supplied by OM
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1587459606 AG>- Likely-pathogenic Non coding transcript variant, coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
38
miRTarBase ID miRNA Experiments Reference
MIRT019078 hsa-miR-335-5p Microarray 18185580
MIRT045838 hsa-miR-132-3p CLASH 23622248
MIRT039387 hsa-miR-421 CLASH 23622248
MIRT1214361 hsa-miR-1275 CLIP-seq
MIRT1214362 hsa-miR-1908 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
45
GO ID Ontology Definition Evidence Reference
GO:0003714 Function Transcription corepressor activity IBA
GO:0003950 Function NAD+ poly-ADP-ribosyltransferase activity IBA
GO:0003950 Function NAD+ poly-ADP-ribosyltransferase activity IEA
GO:0003950 Function NAD+ poly-ADP-ribosyltransferase activity IMP 23473667, 23575687
GO:0003950 Function NAD+ poly-ADP-ribosyltransferase activity TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609564 25895 ENSG00000178685
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q53GL7
Protein name Protein mono-ADP-ribosyltransferase PARP10 (EC 2.4.2.-) (ADP-ribosyltransferase diphtheria toxin-like 10) (ARTD10) (Poly [ADP-ribose] polymerase 10) (PARP-10)
Protein function ADP-ribosyltransferase that mediates mono-ADP-ribosylation of glutamate and aspartate residues on target proteins (PubMed:18851833, PubMed:23332125, PubMed:23474714, PubMed:25043379). In contrast to PARP1 and PARP2, it is not able to mediate pol
PDB 2DHX , 3HKV , 5LX6 , 6FXI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00644 PARP 827 1006 Poly(ADP-ribose) polymerase catalytic domain Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in spleen and thymus (PubMed:15674325). Intermediate levels in liver, kidney, pancreas, prostate, testis, ovary, intestine, and leukocytes (PubMed:15674325). Low expression in heart, brain, placenta, lung, skeletal mus
Sequence
MVAMAEAEAGVAVEVRGLPPAVPDELLTLYFENRRRSGGGPVLSWQRLGCGGVLTFREPA
DAERVLAQADHELHGAQLSLRPAPPRAPARLLLQGLPPGTTPQRLEQHVQALLRASGLPV
QPCCALASPRPDRALVQLPKPLSEADVRVLEEQAQNLGLEGTLVSLARVPQARAVRVVGD
GASVDLLLLELYLENERRSGGGPLEDLQRLPGPLGTVASFQQWQVAERVLQQEHRLQGSE
LSLVPHYDILEPEELAENTSGGDHPSTQGPRATKHALLRTGGLVTALQGAGTVTMGSGEE
PGQSGASLRTGPMVQGRGIMTTGSGQEPGQSGTSLRTGPMGSLGQAEQVSSMPMGSLEHE
GLVSLRPVGLQEQEGPMSLGPVGSAGPVETSKGLLGQEGLVEIAMDSPEQEGLVGPMEIT
MGSLEKAGPVSPGCVKLAGQEGLVEMVLLMEPGAMRFLQLYHEDLLAGLGDVALLPLEGP
DMTGFRLCGAQASCQAAEEFLRSLLGSISCHVLCLEHPGSARFLLGPEGQHLLQGLEAQF
QCVFGTERLATATLDTGLEEVDPTEALPVLPGNAHTLWTPDSTGGDQEDVSLEEVRELLA
TLEGLDLDGEDWLPRELEEEGPQEQPEEEVTPGHEEEEPVAPSTVAPRWLEEEAALQLAL
HRSLEPQGQVAEQEEAAALRQALTLSLLEQPPLEAEEPPDGGTDGKAQLVVHSAFEQDVE
ELDRALRAALEVHVQEETVGPWRRTLPAELRARLERCHGVSVALRGDCTILRGFGAHPAR
AARHLVALLAGPWDQSLAFPLAASGPTLAGQTLKGPWNNLERLAENTGEFQEVVRAFYDT
LDAARSSIRVVRVERVSHPLLQQQYELYRERLLQRCERRPVEQVLYHGTTAPAVPDICAH
GFNRSFCGRNATVYGKGVYFARRASLSVQDRYSPPNADGHKAVFVARVLTGDYGQGRRGL
RAPPLRGPGHVLLRYDSAVDCICQPSIFVIFHDTQALPTHLITCEH
VPRASPDDPSGLPG
RSPDT
Sequence length 1025
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Nicotinamide salvaging
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Developmental delay Likely pathogenic rs1587459606 RCV000991392
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Ataxia Telangiectasia Ataxia Telangiectasia BEFREE 27624574
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder GWASCAT_DG 31043756
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cockayne Syndrome Cockayne syndrome Pubtator 27624574 Associate
★☆☆☆☆
Found in Text Mining only
Depressed bipolar I disorder Depressed bipolar disorder GWASCAT_DG 31043756
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 27624574 Associate
★☆☆☆☆
Found in Text Mining only
Global developmental delay Developmental Delay BEFREE 27624574
★☆☆☆☆
Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome Hereditary breast and ovarian cancer syndrome Pubtator 36187556 Stimulate
★☆☆☆☆
Found in Text Mining only
Leukemia Myeloid Acute Myeloid leukemia Pubtator 37506247 Associate
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 29515234
★☆☆☆☆
Found in Text Mining only
Lymphoma Follicular Lymphoma Pubtator 34791836 Associate
★☆☆☆☆
Found in Text Mining only