PARN Gene - Poly(A)-Specific Ribonuclease
A critical regulator of RNA stability and telomere maintenance
Gene Information Card
| Symbol | PARN |
|---|---|
| Full Name | Poly(A)-Specific Ribonuclease |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.12 |
| NCBI Gene ID | 5071 ncbi.nlm.nih.gov/gene/5071 |
| Ensembl ID | ENSG00000140694 |
| UniProt ID | O95453 |
| OMIM ID | 604212 |
| HGNC ID | 8609 |
| Aliases | DKCB6, PFBMFT4 |
Description
The PARN gene encodes poly(A)-specific ribonuclease, a 3'-exoribonuclease that specifically removes poly(A) tails from mRNA, regulating mRNA stability and translation. PARN also plays a critical role in telomere maintenance by processing the 3' end of telomerase RNA component (TERC), essential for telomerase activity. Mutations in PARN cause autosomal recessive dyskeratosis congenita (DKCB6) and autosomal dominant pulmonary fibrosis and/or bone marrow failure (PFBMFT4).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dyskeratosis Congenita, Autosomal Recessive 6 (DKCB6) | Loss-of-function mutations impair TERC processing, leading to telomere shortening and stem cell failure | OMIM #616353 |
| Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4 (PFBMFT4) | Heterozygous mutations cause haploinsufficiency, resulting in telomere dysfunction and tissue degeneration | OMIM #616371 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 19.2 | Medium |
| Bone marrow | 12.8 | Medium |
| Lung | 10.5 | Medium |
| Skin | 8.3 | Low |
| Blood | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.4 | Medium |
| HeLa (cervical) | 12.1 | Medium |
| HepG2 (liver) | 10.8 | Medium |
| A549 (lung) | 9.5 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2T>C (p.Met1?) | Missense | Rare | Loss of start codon, complete loss of function |
| c.527C>T (p.Pro176Leu) | Missense | Rare | Impaired catalytic activity |
| c.1189C>T (p.Arg397*) | Nonsense | Rare | Premature truncation, loss of function |
| c.1550G>A (p.Arg517Gln) | Missense | Rare | Reduced deadenylation activity |
Mutation functional classification
Loss of Function (LOF)
Most PARN disease-associated mutations are loss-of-function, leading to reduced or absent ribonuclease activity and impaired TERC processing.
Gain of Function (GOF)
No gain-of-function mutations have been reported for PARN.
Dominant Negative (DN)
Some heterozygous missense mutations may exert a dominant-negative effect by interfering with the wild-type protein's function.
View complete mutation data：
Gene Ontology (GO)
| • 3'-5'-exoribonuclease activity (GO:0000175) | • nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289) |
| • RNA binding (GO:0003723) | • nuclease activity (GO:0004518) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
| • gene silencing by RNA (GO:0031047) | • telomerase RNA binding (GO:0070034) |
Pathways
• REACT:383 - mRNA deadenylation-dependent decay
• REACT:17015 - Telomere maintenance via telomerase
Protein Summary
PARN is a 639-amino acid protein with a conserved exonuclease domain (DEDD superfamily). It forms a homodimer and catalyzes the processive removal of poly(A) tails from mRNA, initiating mRNA decay. Additionally, PARN directly binds and trims the 3' end of TERC, generating the mature template for telomerase. The protein is widely expressed, with highest levels in testis and bone marrow. Structural studies reveal a cap-binding domain that enhances affinity for polyadenylated RNA.
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