HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PARN
poly(A)-specific ribonuclease
Chromosome 16 Β· 16p13.12
NCBI Gene: 5073Ensembl: ENSG00000140694.18HGNC: HGNC:8609UniProt: A0A494C0Q2
118PubMed Papers
22Diseases
0Drugs
84Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of telomere maintenance via telomerasemiRNA catabolic processRNA bindingnucleolusidiopathic pulmonary fibrosisdyskeratosis congenitapulmonary fibrosistelomere syndrome
✦AI Summary

PARN (poly(A)-specific ribonuclease) is a 3'-5' exoribonuclease that preferentially degrades poly(A) tails of mRNAs, serving as a critical deadenylase in eukaryotic cells 1. Its primary function involves catalyzing deadenylation, the initial and rate-limiting step in mRNA decay 1. PARN operates through a mechanism requiring interaction with both the 3' poly(A) tail and 5' cap structure for efficient degradation, and participates in nonsense-mediated mRNA decay, AU-rich element (ARE)-containing mRNA degradation, and microRNA processing 2. Beyond mRNA regulation, PARN functions in non-coding RNA maturation, telomere biology, oocyte maturation, and embryogenesis 1. Recent evidence demonstrates PARN's role in miRNA biogenesis, including trimming of miR-451 intermediate forms to mature length 3, and in maintaining stability of H/ACA box snoRNAs 2. Clinically, pathogenic PARN variants cause dyskeratosis congenita and telomere-related bone marrow failure syndromes 2, 4. PARN mutations appear in approximately 30% of familial interstitial lung disease cases and are associated with accelerated disease progression 4. Deregulated PARN activity has been implicated in various cancers and inherited bone marrow failure syndromes 1. The gene's multifaceted roles in RNA metabolism and telomere maintenance underscore its importance in maintaining genomic stability and preventing age-related diseases.

Sources cited
1
PARN is a 3'-5' exoribonuclease that removes oligo(A) tails from non-coding RNAs; loss-of-function mutations cause dyskeratosis congenita
PMID: 37544646
2
PARN catalyzes deadenylation as the first step in mRNA degradation and has roles in embryogenesis, oocyte maturation, telomere biology, and non-coding RNA maturation; pathogenic variants appear in cancers and inherited bone marrow failure syndromes
PMID: 34520768
3
PARN mutations occur in approximately 30% of familial interstitial lung disease cases and are associated with accelerated disease progression and extra-pulmonary manifestations
PMID: 35715316
4
PARN interacts with CSDE1 and promotes trimming of intermediate miR-451 to mature length during microRNA biogenesis
PMID: 37493604
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜22
idiopathic pulmonary fibrosisOpen Targets
0.79Strong
dyskeratosis congenitaOpen Targets
0.78Strong
pulmonary fibrosisOpen Targets
0.59Moderate
telomere syndromeOpen Targets
0.42Moderate
Hoyeraal-Hreidarsson syndromeOpen Targets
0.37Weak
paralytic strabismusOpen Targets
0.34Weak
type 1 diabetes nephropathyOpen Targets
0.34Weak
metabolic syndromeOpen Targets
0.27Weak
interstitial lung diseaseOpen Targets
0.26Weak
mathematical abilityOpen Targets
0.24Weak
Uterine leiomyomaOpen Targets
0.22Weak
uterine fibroidOpen Targets
0.22Weak
Abnormal pulmonary interstitial morphologyOpen Targets
0.21Weak
respiratory system diseaseOpen Targets
0.20Weak
postinflammatory pulmonary fibrosisOpen Targets
0.20Weak
genetic disorderOpen Targets
0.19Weak
morbid obesityOpen Targets
0.18Weak
phosphorus metabolism diseaseOpen Targets
0.09Suggestive
brain aneurysmOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.08Suggestive
Dyskeratosis congenita, autosomal recessive, 6UniProt
Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 4UniProt
Pathogenic Variants84
NM_002582.4(PARN):c.529C>T (p.Gln177Ter)Pathogenic
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4|not provided|Pulmonary fibrosis|Dyskeratosis congenita, autosomal recessive 6;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
β˜…β˜…β˜†β˜†2026β†’ Residue 177
NM_002582.4(PARN):c.1749_1750del (p.Glu585fs)Pathogenic
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4|Dyskeratosis congenita, autosomal recessive 6;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4|Pulmonary fibrosis|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 585
NM_002582.4(PARN):c.962+2T>CLikely pathogenic
not provided|Dyskeratosis congenita, autosomal recessive 6;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
β˜…β˜…β˜†β˜†2025
NM_002582.4(PARN):c.874dup (p.Asp292fs)Pathogenic
not provided|Dyskeratosis congenita, autosomal recessive 6;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
β˜…β˜…β˜†β˜†2025β†’ Residue 292
NM_002582.4(PARN):c.948_949del (p.Val318fs)Pathogenic
Dyskeratosis congenita, autosomal recessive 6|Dyskeratosis congenita, autosomal recessive 6;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
β˜…β˜…β˜†β˜†2024β†’ Residue 318
NM_002582.4(PARN):c.758_759del (p.Glu253fs)Pathogenic
Dyskeratosis congenita, autosomal recessive 6;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
β˜…β˜…β˜†β˜†2024β†’ Residue 253
NM_002582.4(PARN):c.784-1G>ALikely pathogenic
Dyskeratosis congenita, autosomal recessive 6;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4|not provided
β˜…β˜…β˜†β˜†2024
NM_002582.4(PARN):c.1481-1G>APathogenic
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4;Dyskeratosis congenita, autosomal recessive 6|Pulmonary fibrosis|Melanoma
β˜…β˜…β˜†β˜†2024
NM_002582.4(PARN):c.709C>T (p.Arg237Ter)Pathogenic
Dyskeratosis congenita, autosomal recessive 6;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 237
NM_002582.4(PARN):c.1405+1G>TLikely pathogenic
Pulmonary fibrosis|Dyskeratosis congenita, autosomal recessive 6;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4|Squamous cell lung carcinoma|PARN-related disorder
β˜…β˜…β˜†β˜†2023
NM_002582.4(PARN):c.1006-2A>GPathogenic
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4|not provided
β˜…β˜…β˜†β˜†2020
NM_002582.4(PARN):c.620+48A>GLikely pathogenic
Dyskeratosis congenita, autosomal recessive 6
β˜…β˜†β˜†β˜†2026
NM_002582.4(PARN):c.783+2T>GLikely pathogenic
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4;Dyskeratosis congenita, autosomal recessive 6
β˜…β˜†β˜†β˜†2025
NM_002582.4(PARN):c.633del (p.Lys211fs)Pathogenic
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
β˜…β˜†β˜†β˜†2025β†’ Residue 211
NM_002582.4(PARN):c.703-1G>ALikely pathogenic
Dyskeratosis congenita, autosomal recessive 6;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
β˜…β˜†β˜†β˜†2025
NM_002582.4(PARN):c.1414C>T (p.Gln472Ter)Pathogenic
Dyskeratosis congenita, autosomal recessive 6;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
β˜…β˜†β˜†β˜†2025β†’ Residue 472
NM_002582.4(PARN):c.563dup (p.Glu189fs)Pathogenic
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4|Dyskeratosis congenita, autosomal recessive 6;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4|Pulmonary fibrosis
β˜…β˜†β˜†β˜†2025β†’ Residue 189
NM_002582.4(PARN):c.1257del (p.Phe419fs)Pathogenic
Familial Interstitial Pneumonia;Pulmonary fibrosis|Dyskeratosis congenita, autosomal recessive 6;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
β˜…β˜†β˜†β˜†2025β†’ Residue 419
NM_002582.4(PARN):c.382C>T (p.Arg128Ter)Pathogenic
Dyskeratosis congenita, autosomal recessive 6;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
β˜…β˜†β˜†β˜†2025β†’ Residue 128
NM_002582.4(PARN):c.98-2A>GLikely pathogenic
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4;Dyskeratosis congenita, autosomal recessive 6
β˜…β˜†β˜†β˜†2025
View on ClinVar β†—
Related Genes
DIS3Protein interaction100%EXOSC7Protein interaction100%EXOSC4Protein interaction100%SYMPKProtein interaction100%CTC1Protein interaction97%NOP10Protein interaction95%
Tissue Expression6 tissues
Brain
100%
Heart
83%
Ovary
78%
Lung
76%
Liver
70%
Bone Marrow
52%
Gene Interaction Network
Click a node to explore
PARNDIS3EXOSC7EXOSC4SYMPKCTC1NOP10
PROTEIN STRUCTURE
Preparing viewer…
PDB3CTR Β· 2.10 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.92LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.59 [0.39–0.92]
RankingsWhere PARN stands among ~20K protein-coding genes
  • #4,006of 20,598
    Most Researched118 Β· top quartile
  • #891of 5,498
    Most Pathogenic Variants84 Β· top quartile
  • #8,410of 17,882
    Most Constrained (LOEUF)0.92
Genes detectedPARN
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
New insights into the genetic etiology of Alzheimer's disease and related dementias.
PMID: 35379992
Nat Genet Β· 2022
1.00
2
Genetic Risk Factors Associated With Preeclampsia and Hypertensive Disorders of Pregnancy.
PMID: 37285119
JAMA Cardiol Β· 2023
0.90
3
FinnGen provides genetic insights from a well-phenotyped isolated population.
PMID: 36653562
Nature Β· 2023
0.80
4
Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.
PMID: 33627673
Nat Commun Β· 2021
0.70
5
The PARN, TOE1, and USB1 RNA deadenylases and their roles in non-coding RNA regulation.
PMID: 37544646
J Biol Chem Β· 2023
0.60