PARN Chromosome 16
Poly(A)-specific ribonuclease
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What This Gene Does
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 often the first step in the decay of eukaryotic mRNAs. This protein is also involved in silencing of certain maternal mRNAs during oocyte maturation and early embryonic development, as well as in nonsense-mediated decay (NMD) of mRNAs that contain premature stop codons. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
Gene Info
Gene Group
"Ribosomal biogenesis factors|PARN exonuclease family"
Locus Type
gene with protein product
Location
16p13.12
Ensembl
ENSG00000140694
Associated Conditions (14)
Dyskeratosis congenita
autosomal recessive 6
Pulmonary fibrosis and/or bone marrow failure
Telomere-related
4
Primary ciliary dyskinesia 20
PARN-related disorder
Inborn genetic diseases
Familial Interstitial Pneumonia
Pulmonary fibrosis
Telomere syndrome
Squamous cell lung carcinoma
Nonpapillary renal cell carcinoma
Melanoma
Key Variants
RS1328915368
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal recessive 6, Pulmonary fibrosis and/or bone marrow failure
Health Risk
RS200103366
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal recessive 6, Pulmonary fibrosis and/or bone marrow failure
Health Risk
RS201765587
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal recessive 6, Pulmonary fibrosis and/or bone marrow failure
Health Risk
RS201963032
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal recessive 6, Pulmonary fibrosis and/or bone marrow failure
Health Risk
RS368440052
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal recessive 6, Pulmonary fibrosis and/or bone marrow failure
Health Risk
RS368739970
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal recessive 6, Pulmonary fibrosis and/or bone marrow failure
Health Risk
RS746114163
Conflicting classifications of pathogenicity
Familial Interstitial Pneumonia, Pulmonary fibrosis, Dyskeratosis congenita
Health Risk
RS754368658
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal recessive 6, Pulmonary fibrosis and/or bone marrow failure
Health Risk
RS757655633
Conflicting classifications of pathogenicity
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
Health Risk
RS757910862
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal recessive 6, Pulmonary fibrosis and/or bone marrow failure
Health Risk
RS759131762
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal recessive 6, Pulmonary fibrosis and/or bone marrow failure
Health Risk
RS765981944
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal recessive 6, Pulmonary fibrosis and/or bone marrow failure
Health Risk
All Variants (72)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1972905468 | Health Risk | Pathogenic | — |
| RS2151779880 | Health Risk | Pathogenic | — |
| RS2151797695 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal recessive 6, Pulmonary fibrosis and/or bone marrow failure |
| RS2506913635 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal recessive 6, Pulmonary fibrosis and/or bone marrow failure |
| RS2507867448 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal recessive 6, Pulmonary fibrosis and/or bone marrow failure |
| RS2508228130 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal recessive 6, Pulmonary fibrosis and/or bone marrow failure |
| RS2508334817 | Health Risk | Pathogenic | Pulmonary fibrosis, Pulmonary fibrosis |
| RS2508639104 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal recessive 6, Pulmonary fibrosis and/or bone marrow failure |
| RS2508640323 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal recessive 6, Pulmonary fibrosis and/or bone marrow failure |
| RS745696590 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal recessive 6, Pulmonary fibrosis and/or bone marrow failure |
| RS751381953 | Health Risk | Pathogenic | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 |
| RS751946182 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal recessive 6, Pulmonary fibrosis and/or bone marrow failure |
| RS760506977 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal recessive 6, Pulmonary fibrosis and/or bone marrow failure |
| RS786200999 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal recessive 6, Dyskeratosis congenita |
| RS786201001 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal recessive 6, Dyskeratosis congenita |
| RS876661305 | Health Risk | Pathogenic | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 |
| RS878853260 | Health Risk | Pathogenic | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 |
| RS942538351 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal recessive 6, Familial Interstitial Pneumonia |
| RS1194089098 | Health Risk | Pathogenic/Likely pathogenic | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 |
| RS1412358291 | Health Risk | Pathogenic/Likely pathogenic | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 |
| RS1469272825 | Health Risk | Pathogenic/Likely pathogenic | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 |
| RS2151787383 | Health Risk | Pathogenic/Likely pathogenic | Dyskeratosis congenita, autosomal recessive 6, Pulmonary fibrosis and/or bone marrow failure |