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PRSS3P2 PRSS3 pseudogene 2 [ Homo sapiens (human) ]

Gene ID: 154754, updated on 2-Nov-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 [email protected] 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.