PRSS3P2 PRSS3 pseudogene 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PRSS3P2provided by HGNC
Official Full Name: PRSS3 pseudogene 2provided by HGNC
Primary source: HGNC: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

Location:: 7q34

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7 (ALT_REF_LOCI_1)	NT_187562.1 (773503..777146)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7 (PATCHES)	NW_003571040.1 (953574..957217)

NT_187562.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.

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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

D7S2928 (e-PCR)
- UniSTS:47544

STS-X15505 (e-PCR)
- UniSTS:74448

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

NG_001333.2

Range

604575..608219

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GenBank, FASTA, Sequence Viewer (Graphics)

RNA

NR_001296.3 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC231380

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 ALT_REF_LOCI_1

Genomic

NT_187562.1 Reference GRCh38.p14 ALT_REF_LOCI_1

Range

773503..777146

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.