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    PGC progastricsin [ Homo sapiens (human) ]

    Gene ID: 5225, updated on 5-Mar-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
    mouse all
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    Genomic context

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    Location:
    6p21.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (41736711..41747397, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (41565267..41576000, complement)
    105.20220307 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
    • 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. Medium and large alleles of the PGC gene are risk factors for gastric cancer. Sánchez-López JY, et al. Tumour Biol, 2023. PMID 37038800
    2. Pepsinogen II in gastritis and Helicobacter pylori infection. Di Mario F, et al. Helicobacter, 2022 Apr. PMID 34997989
    3. Pepsinogen C expression-related lncRNA/circRNA/mRNA profile and its co-mediated ceRNA network in gastric cancer. Yan LR, et al. Funct Integr Genomics, 2021 Nov. PMID 34463892
    4. Association between serum pepsinogen and atherosclerotic cardiovascular disease. Gao X, et al. Nutr Metab Cardiovasc Dis, 2021 Jan 4. PMID 33127250
    5. Serum pepsinogens as a gastric cancer and gastritis biomarker in South and Southeast Asian populations. Miftahussurur M, et al. PLoS One, 2020. PMID 32271765, Free PMC Article

    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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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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_2023_10

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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