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    PRSS3P2 PRSS3 pseudogene 2 [ Homo sapiens (human) ]

    Gene ID: 154754, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PRSS3P2provided by HGNC
    Official Full Name
    PRSS3 pseudogene 2provided by HGNC
    Primary source
    HGNC:HGNC:43788
    See related
    AllianceGenome:HGNC:43788
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    T6; TRY6
    Summary
    Although this locus appears to encode a protein similar to trypsinogen, the locus is thought to be a transcribed pseudogene. ESTs support its transcription, but expression of its predicted protein has not been observed. Its predicted protein sequence differs significantly from the known functional trypsinogens, including a different amino acid at the conserved residue 122 which is important for autolysis. This pseudogene and several other trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. [provided by RefSeq, Jul 2008]
    Annotation information
    Annotation category: only annotated on alternate loci in reference assembly
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    Genomic context

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    See PRSS3P2 in Genome Data Viewer
    Location:
    7q34
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 (ALT_REF_LOCI_1) NT_187562.1 (773503..777146)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 (PATCHES) NW_003571040.1 (953574..957217)

    NT_187562.1Genomic Context describing neighboring genes Neighboring gene T cell receptor beta locus Neighboring gene PRSS3 pseudogene 1 Neighboring gene serine protease 1 Neighboring gene PRSS3 pseudogene 5 Neighboring gene serine protease 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Genes, cloned cDNAs, and proteins of human trypsinogens and pancreatitis-associated cationic trypsinogen mutations. Chen JM, et al. Pancreas, 2000 Jul. PMID 10881933
    2. High-throughput genotyping of a common deletion polymorphism disrupting the TRY6 gene and its association with breast cancer risk. Wagner K, et al. BMC Genet, 2007 Jun 29. PMID 17598925, Free PMC Article
    3. The PRSS3P2 and TRY7 deletion copy number variant modifies risk for chronic pancreatitis. Masson E, et al. Pancreatology, 2023 Jan. PMID 36517351
    4. Molecular pathology and evolutionary and physiological implications of pancreatitis-associated cationic trypsinogen mutations. Chen JM, et al. Hum Genet, 2001 Sep. PMID 11702203
    5. Gene conversion between cationic trypsinogen (PRSS1) and the pseudogene trypsinogen 6 (PRSS3P2) in patients with chronic pancreatitis. Rygiel AM, et al. Hum Mutat, 2015 Mar. PMID 25546417, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The PRSS3P2 and TRY7 deletion copy number variant modifies risk for chronic pancreatitis.
      Title: The PRSS3P2 and TRY7 deletion copy number variant modifies risk for chronic pancreatitis.
    2. Although we did not observe an association between the TRY6 deletion polymorphism and breast cancer risk, the identification and investigation of further deletions using the present approach may help to elucidate their effect on disease susceptibility
      Title: High-throughput genotyping of a common deletion polymorphism disrupting the TRY6 gene and its association with breast cancer risk.
    3. The integration of genomic, transcriptomic, proteomic, and disease-association data suggested that TRY6 may represent a transition state between a functioning duplicated gene and a nonfunctional pseudogene, that is, an expressed pseudogene.
      Title: Molecular pathology and evolutionary and physiological implications of pancreatitis-associated cationic trypsinogen mutations.
    Submit: New GeneRIF Correction

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Other Names

    • Putative trypsin-6
    • Serine protease 3 pseudogene 2
    • protease, serine 3 pseudogene 2
    • protease, serine, 1 (trypsin 1)
    • trypsinogen C

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables serine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in endothelial cell migration 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
    		  

    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.

    Genomic

    1. NG_001333.2 

      Range
      604575..608219
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. NR_001296.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC231380

    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 ALT_REF_LOCI_1

    Genomic

    1. NT_187562.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      773503..777146
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_139000.2: Suppressed sequence

      Description
      NM_139000.2: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NHM4.2 GenPept UniProtKB/Swiss-Prot:Q8NHM4

    Gene LinkOut

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