Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5073
Gene name Gene Name - the full gene name approved by the HGNC.
Poly(A)-specific ribonuclease
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PARN
Synonyms (NCBI Gene) Gene synonyms aliases
DAN, DKCB6, PFBMFT4
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p13.12
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a 3`-exoribonuclease, with similarity to the RNase D family of 3`-exonucleases. It prefers poly(A) as the substrate, hence, efficiently degrades poly(A) tails of mRNAs. Exonucleolytic degradation of the poly(A) tail is
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs201765587 T>A,C Uncertain-significance, pathogenic Missense variant, 5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant
rs751381953 T>C Pathogenic Splice acceptor variant, upstream transcript variant, genic upstream transcript variant, intron variant
rs754368658 G>A Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs756132866 C>A Pathogenic Splice donor variant, intron variant
rs757910862 T>C Likely-pathogenic Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT022591 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT024604 hsa-miR-215-5p Microarray 19074876
MIRT026386 hsa-miR-192-5p Microarray 19074876
MIRT608662 hsa-miR-8485 HITS-CLIP 23313552
MIRT608661 hsa-miR-377-3p HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000175 Function 3'-5'-RNA exonuclease activity IBA
GO:0000184 Process Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IEA
GO:0000289 Process Nuclear-transcribed mRNA poly(A) tail shortening IBA
GO:0000495 Process Box H/ACA sno(s)RNA 3'-end processing IDA 22442037
GO:0003676 Function Nucleic acid binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604212 8609 ENSG00000140694
Protein
UniProt ID O95453
Protein name Poly(A)-specific ribonuclease PARN (EC 3.1.13.4) (Deadenylating nuclease) (Deadenylation nuclease) (Polyadenylate-specific ribonuclease)
Protein function 3'-exoribonuclease that has a preference for poly(A) tails of mRNAs, thereby efficiently degrading poly(A) tails. Exonucleolytic degradation of the poly(A) tail is often the first step in the decay of eukaryotic mRNAs and is also used to silence
PDB 2A1R , 2A1S , 3CTR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04857 CAF1 3 390 CAF1 family ribonuclease Family
PF08675 RNA_bind 437 515 RNA binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:10640832, ECO:0000269|PubMed:9736620}.
Sequence
Sequence length 639
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  RNA degradation   ATF4 activates genes in response to endoplasmic reticulum stress
Deadenylation of mRNA
KSRP (KHSRP) binds and destabilizes mRNA
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Dyskeratosis Congenita dyskeratosis congenita, dyskeratosis congenita, autosomal recessive 6 rs786200999, rs942538351, rs1555512179, rs756132866, rs1596812454, rs1461036243, rs786201001 N/A
Pulmonary Fibrosis pulmonary fibrosis rs751381953, rs876661305, rs878853260 N/A
Pulmonary fibrosis and/or bone marrow failure pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 rs1469272825, rs876661305, rs878853260, rs1971361795, rs751381953 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Hoyeraal-Hreidarsson Syndrome Hoyeraal-Hreidarsson syndrome N/A N/A GenCC
Psoriasis Psoriasis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Anonychia congenita Associate 26810774
Bone Marrow Failure Disorders Associate 40438983
Carcinoma Squamous Cell Associate 26541675
Disease Associate 25049417, 31448843
Dyskeratosis Congenita Associate 25893598, 25893599, 26482878, 28402503, 28760775, 30728146, 30770239, 30930056, 31448843, 32452087, 32559291, 36018809
Fibrosis Associate 29204651
Genetic Diseases Inborn Associate 30770239
Hoyeraal Hreidarsson syndrome Associate 26810774, 31448843
Idiopathic Pulmonary Fibrosis Associate 25848748, 26482878, 28099038, 29529386, 31448843, 31910222
Immunologic Deficiency Syndromes Associate 27482890