PARN

Chr 16

poly(A)-specific ribonuclease

Also known as: DAN, DKCB6, PFBMFT4

NCBI Gene: 5073ENSG00000140694UniProt: O95453

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]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDyskeratosis congenita, autosomal recessive, 6
UniProtPulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 4

Clinical highlights

Gene-disease validity (ClinGen)
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 · SDDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
16
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.52
LOEUF
LOF
Mechanism· G2P
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GeneReview available — PARN
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.52LOEUF
pLI 0.000
Z-score 4.02
OE 0.33 (0.22–0.52)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.79Z-score
OE missense 0.88 (0.79–0.97)
285 obs / 325.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.33 (0.22–0.52)
0≤0.351.4
Missense OE?0.88 (0.79–0.97)
0≤0.61.4
Synonymous OE?0.93
0≤1.21.6
LoF obs/exp: 14 / 42.2Missense obs/exp: 285 / 325.3Syn Z: 0.57

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PARN · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients