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See all 65 citations in PubMed. See citations in PubMed for homologs of this gene provided by HomoloGene. NEW Try the new Transcript table. These reference sequences exist independently of genome builds. 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. The following sections contain reference sequences that belong to a specific genome build. This section includes genomic Reference Sequences RefSeqs from all assemblies on which this gene is annotated, such as RefSeqs for chromosomes and scaffolds contigs from both reference and alternate assemblies. Model RNAs and proteins are also reported here. The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links. National Center for Biotechnology Information , U. Gene Genes and mapped phenotypes. Add to Clipboard. Add to Collections. File name. Summary Go to the top of the page Help. The protein undergoes an initial autocatalytic processing event and interacts with a neuroendocrine secretory protein in the ER, exits the ER and sorts to secretory granules, where it is cleaved and catalytically activated during intracellular transport. The encoded protease is packaged into and activated in dense core secretory granules and expressed in the neuroendocrine system and brain. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It functions in the proteolytic activation of polypeptide hormones and neuropeptides precursors. Single nucleotide polymorphisms in this gene may increase susceptibility to myocardial infarction and type 2 diabetes. This gene may also play a role in tumor development and progression. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Genomic context Go to the top of the page Help. Annotation release Status Assembly Chr Location Genomic regions, transcripts, and products Go to the top of the page Help. Go to reference sequence details. Expression Go to the top of the page Help. See details. Bibliography Go to the top of the page Help. Related articles in PubMed PCSK2 expression in neuroendocrine tumors points to a midgut, pulmonary, or pheochromocytoma-paraganglioma origin. Remes SM, et al. Chang TJ, et al. Sci Rep, Nov Jonsson A, et al. Diabetologia, Dec. Zheng X, et al. Mol Biol Rep, Jan. PMID Possible relevance between prohormone convertase 2 expression and tumor growth in human adrenocorticotropin-producing pituitary adenoma. Iino K, et al. J Clin Endocrinol Metab, Aug. Title: PCSK2 expression in neuroendocrine tumors points to a midgut, pulmonary, or pheochromocytoma-paraganglioma origin. Title: Genetic polymorphisms of PCSK2 are associated with glucose homeostasis and progression to type 2 diabetes in a Chinese population. Title: Decreased hypothalamic prohormone convertase expression in huntington disease patients. Phenotypes Go to the top of the page Help. GeneReviews: Not available. Variation Go to the top of the page Help. Pathways from PubChem Go to the top of the page. Interactions Go to the top of the page Help. General gene information Go to the top of the page Help. Inferred from Biological aspect of Ancestor more info. Inferred from Direct Assay more info. Inferred from Sequence or Structural Similarity more info. Inferred from Electronic Annotation more info. General protein information Go to the top of the page Help. 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. The encoded isoform 3 has a shorter N-terminus, compared to isoform 1. The encoded isoform 2 is shorter than isoform 1. Explain This section includes genomic Reference Sequences RefSeqs from all assemblies on which this gene is annotated, such as RefSeqs for chromosomes and scaffolds contigs from both reference and alternate assemblies. Reference GRCh Related sequences Go to the top of the page Help. Additional links Go to the top of the page Help. Miscellaneous InterologFinder. External link. Please review our privacy policy. A genome-wide association meta-analysis of preschool internalizing problems. Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes. Genome-wide association study of biochemical traits in Korcula Island, Croatia. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. Parent-of-origin-specific allelic associations among genomic loci for age at menarche. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
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