PTF1A

Chr 10

pancreas associated transcription factor 1a

Also known as: PACA, PAGEN2, PTF1-p48, bHLHa29, p48

NCBI Gene: 256297ENSG00000168267UniProt: Q7RTS3

This gene encodes a protein that is a component of the pancreas transcription factor 1 complex (PTF1) and is known to have a role in mammalian pancreatic development. The protein plays a role in determining whether cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to duodenal fates. The protein is thought to be involved in the maintenance of exocrine pancreas-specific gene expression including elastase 1 and amylase. Mutations in this gene cause cerebellar agenesis and loss of expression is seen in ductal type pancreas cancers. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtPancreatic and cerebellar agenesis
UniProtPancreatic agenesis 2

Clinical highlights

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.
1
Active trials
27
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.01
LOEUF
LOF
Mechanism· G2P
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GeneReview available — PTF1A
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
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.01LOEUF
pLI 0.166
Z-score 1.57
OE 0.32 (0.13–1.01)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.51Z-score
OE missense 0.86 (0.72–1.02)
88 obs / 102.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.32 (0.13–1.01)
0≤0.351.4
Missense OE?0.86 (0.72–1.02)
0≤0.61.4
Synonymous OE?1.20
0≤1.21.6
LoF obs/exp: 2 / 6.2Missense obs/exp: 88 / 102.5Syn Z: -1.08

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PTF1A · protein map & ClinVar variants

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

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