PGA4 Gene - Pepsinogen A4

PGA4: A gastric aspartic protease precursor involved in protein digestion and gastric physiology.

Gene Information Card

Symbol PGA4
Full Name Pepsinogen A4
Gene Type protein-coding
Chromosomal Location 11q12.2
NCBI Gene ID 643847 ncbi.nlm.nih.gov/gene/643847
Ensembl ID ENSG00000196262
UniProt ID P00790
OMIM ID 169710
HGNC ID 8890
Aliases PGA, pepsinogen A, pepsinogen-4

Description

PGA4 encodes pepsinogen A4, a precursor of the gastric enzyme pepsin A. Pepsin A is an aspartic protease that is activated in the acidic environment of the stomach and plays a key role in protein digestion. The gene is part of a cluster of pepsinogen genes on chromosome 11. Expression is primarily in the gastric mucosa.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Gastric cancer Altered pepsinogen levels are associated with gastric atrophy and increased cancer risk; PGA4 expression may be dysregulated. NCBI Gene, OMIM
Peptic ulcer disease Changes in pepsinogen secretion can contribute to mucosal damage. NCBI Gene
Gastritis Inflammation of gastric mucosa affects pepsinogen production. NCBI Gene

Expression Profile

Tissue Expression
Tissue nTPM level
Stomach 127.3 High
Esophagus 1.2 Low
Duodenum 0.8 Low
Pancreas 0.1 Not detected
Cell Line Expression
Cell Line nTPM Notes
MKN7 (gastric cancer) 45.2 Moderate expression
KATO III (gastric cancer) 12.8 Low expression
HEK 293 0.0 Not expressed
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G missense <0.01% Unknown effect
c.67C>T missense <0.01% Unknown effect
Mutation functional classification

Loss of Function (LOF)

No confirmed loss-of-function variants reported in ClinVar or COSMIC.

Gain of Function (GOF)

No confirmed gain-of-function variants reported.

Dominant Negative (DN)

No evidence of dominant-negative effects.

Gene Ontology (GO)

• aspartic-type endopeptidase activity • proteolysis
• pepsinogen activation • extracellular space

Pathways

• Digestion and absorption of proteins
• Gastric acid secretion

Protein Summary

Pepsinogen A4 is a 388-amino-acid precursor protein that is cleaved to form active pepsin A. The active enzyme is an aspartic protease with optimal activity at low pH. It is secreted by chief cells in the stomach and initiates protein digestion. The protein contains a signal peptide and an activation peptide that is removed upon acidification.

Related Products

Product name Cat.No. Species Gene ID
PGA4 Knockout HEK293 Cell Line EDJ-KQ5448 Human 643847 Details Get a Quote
PGA4 Knockout HeLa Cell Line EDJ-KQ60554 Human 643847 Details Get a Quote
PGA4 Knockout A-549 Cell Line EDJ-KQ69025 Human 643847 Details Get a Quote
PGA4 Knockout HCT 116 Cell Line EDJ-KQ77382 Human 643847 Details Get a Quote
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