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PGC progastricsin [ Homo sapiens (human) ]

Gene ID: 5225, updated on 2-Nov-2024

Summary

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Official Symbol
PGCprovided by HGNC
Official Full Name
progastricsinprovided by HGNC
Primary source
HGNC:HGNC:8890
See related
Ensembl:ENSG00000096088 MIM:169740; AllianceGenome:HGNC:8890
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PEPC; PGII
Summary
This gene encodes an aspartic proteinase that belongs to the peptidase family A1. The encoded protein is a digestive enzyme that is produced in the stomach and constitutes a major component of the gastric mucosa. This protein is also secreted into the serum. This protein is synthesized as an inactive zymogen that includes a highly basic prosegment. This enzyme is converted into its active mature form at low pH by sequential cleavage of the prosegment that is carried out by the enzyme itself. Polymorphisms in this gene are associated with susceptibility to gastric cancers. Serum levels of this enzyme are used as a biomarker for certain gastric diseases including Helicobacter pylori related gastritis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 1. [provided by RefSeq, Oct 2009]
Expression
Restricted expression toward stomach (RPKM 7385.5) See more
Orthologs
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Genomic context

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See PGC in Genome Data Viewer
Location:
6p21.1
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (41736711..41747397, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (41565267..41576000, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (41704449..41715135, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41641529-41642028 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41642607-41643108 Neighboring gene nucleophosmin 1 pseudogene 51 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41644810-41645324 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41645325-41645838 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41649993-41650819 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41650820-41651645 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41655149-41656015 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41658364-41658864 Neighboring gene transcription factor EB Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41673380-41673880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41673881-41674381 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24518 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24519 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41680541-41681266 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41681267-41681990 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24521 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24522 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41690842-41691384 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24523 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24525 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41700542-41701238 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17188 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17189 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17190 Neighboring gene microRNA 10398 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41735161-41736013 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17191 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17192 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17193 Neighboring gene fibroblast growth factor receptor substrate 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17194 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41755120-41756119 Neighboring gene prickle planar cell polarity protein 4

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Pepsinogen C: a type 2 cell-specific protease. Foster C, et al. Am J Physiol Lung Cell Mol Physiol, 2004 Feb. PMID 14578117
  2. Serum pepsinogen II: a neglected but useful biomarker to differentiate between diseased and normal stomachs. He CY, et al. J Gastroenterol Hepatol, 2011 Jun. PMID 21303408
  3. [Correlation of pepsinogen C (PGC) gene insertion/deletion polymorphism to PGC protein expression in gastric mucosa and serum]. Sun LP, et al. Ai Zheng, 2009 May. PMID 19624876
  4. Serum biomarker tests are useful in delineating between patients with gastric atrophy and normal, healthy stomach. Iijima K, et al. World J Gastroenterol, 2009 Feb 21. PMID 19230047, Free PMC Article
  5. [Interaction between an insertion/deletion polymorphism in pepsinogen C and Helicobacter pylori infection in the development of gastric cancer]. Sun LP, et al. Zhonghua Zhong Liu Za Zhi, 2008 Sep. PMID 19173902

See all (83) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Medium and large alleles of the PGC gene are risk factors for gastric cancer.
    Title: Medium and large alleles of the PGC gene are risk factors for gastric cancer.
  2. Pepsinogen II in gastritis and Helicobacter pylori infection.
    Title: Pepsinogen II in gastritis and Helicobacter pylori infection.
  3. Diagnostic value of MRI-DWI signal intensity value combined with serum PGI, PGII and CA199 in early gastric cancer.
    Title: Diagnostic value of MRI-DWI signal intensity value combined with serum PGI, PGII and CA199 in early gastric cancer.
  4. Pepsinogen C expression-related lncRNA/circRNA/mRNA profile and its co-mediated ceRNA network in gastric cancer.
    Title: Pepsinogen C expression-related lncRNA/circRNA/mRNA profile and its co-mediated ceRNA network in gastric cancer.
  5. Clinical correlation between serum pepsinogen level and gastric atrophy in gastric neoplasm.
    Title: Clinical correlation between serum pepsinogen level and gastric atrophy in gastric neoplasm.
  6. Association between serum pepsinogen and atherosclerotic cardiovascular disease.
    Title: Association between serum pepsinogen and atherosclerotic cardiovascular disease.
  7. Diagnostic value of serum pepsinogen I, pepsinogen II, and gastrin-17 levels for population-based screening for early-stage gastric cancer.
    Title: Diagnostic value of serum pepsinogen I, pepsinogen II, and gastrin-17 levels for population-based screening for early-stage gastric cancer.
  8. the pepsinogen I/II ratio was the most reliable gastric mucosal-change biomarker.
    Title: Serum pepsinogens as a gastric cancer and gastritis biomarker in South and Southeast Asian populations.
  9. Study found 15 pairwise PGC-lncRNAs SNPs had interactions: five pairs were associated with atrophic gastritis (AG) risk, and ten pairs were associated with gastric cancer (GC) risk. Several combinations showed obvious epistasis and cumulative effects on disease risk for AG and GC.
    Title: SNP interactions of PGC with its neighbor lncRNAs enhance the susceptibility to gastric cancer/atrophic gastritis and influence the expression of involved molecules.
  10. Recombinant pepsin C and pepsinogen C were purified from transgenic rice culture medium, and the NH2-terminal 5-residue sequences were verified by amino acid sequencing.
    Title: Spontaneous pepsin C-catalyzed activation of human pepsinogen C in transgenic rice cell suspension culture: Production and characterization of human pepsin C.
Submit: New GeneRIF Correction See all GeneRIFs (47)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ99563

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables aspartic-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables aspartic-type endopeptidase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
involved_in digestion IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of antibacterial peptide production IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular space IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
gastricsin
Names
pepsin C
pepsinogen C
pepsinogen group II
preprogastricsin
NP_001159896.1
NP_002621.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001166424.2 → NP_001159896.1  gastricsin isoform 2 preproprotein

    See identical proteins and their annotated locations for NP_001159896.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and 3' coding region, compared to variant 1. The resulting protein (isoform 2) has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK301298
    Consensus CDS
    CCDS55000.1
    UniProtKB/Swiss-Prot
    P20142
    Related
    ENSP00000405094.2, ENST00000425343.6
    Conserved Domains (2) summary
    pfam07966
    Location:18 → 46
    A1_Propeptide; A1 Propeptide
    cl11403
    Location:70 → 216
    pepsin_retropepsin_like; Cellular and retroviral pepsin-like aspartate proteases

  2. NM_002630.4 → NP_002621.1  gastricsin isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_002621.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL365205, BC073740
    Consensus CDS
    CCDS4859.1
    UniProtKB/Swiss-Prot
    B4DVZ3, P20142, Q5T3D7, Q5T3D8
    Related
    ENSP00000362116.3, ENST00000373025.7
    Conserved Domains (3) summary
    cd05477
    Location:70 → 387
    gastricsin; Gastricsins, asparate proteases produced in gastric mucosa
    pfam00026
    Location:72 → 387
    Asp; Eukaryotic aspartyl protease
    pfam07966
    Location:18 → 46
    A1_Propeptide; A1 Propeptide

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    41736711..41747397 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    41565267..41576000 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P20142.1 GenPept UniProtKB/Swiss-Prot:P20142

Gene LinkOut

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