Human Gene Set: HP_ABNORMAL_CIRCULATING_C_PEPTIDE_CONCENTRATION


Standard name HP_ABNORMAL_CIRCULATING_C_PEPTIDE_CONCENTRATION
Systematic name M38404
Brief description Abnormal circulating C-peptide concentration
Full description or abstract An anomolous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion. [https://orcid.org/0000-0002-0736-9199, PMID:15198367]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0030794
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0030794
Filtered by similarity ?
Source species Homo sapiens
Contributed by Human Phenotype Ontology Group (The Jackson Laboratory (JAX))
Source platform or
identifier namespace		 Human_NCBI_Gene_ID
Dataset references  
Download gene set format: grp | gmt | xml | json | TSV metadata
Compute overlaps ? (show collections to investigate for overlap with this gene set)
Compendia expression profiles ? NG-CHM interactive heatmaps
(Please note that clustering takes a few seconds)
GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)

Legacy heatmaps (PNG)
GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
Advanced query Further investigate these 27 genes
Gene families ? Categorize these 27 genes by gene family
Show members (show 27 source identifiers mapped to 27 genes)
Version history 2024.1.Hs: Updated to HPO Release 2024-04-26.

See MSigDB license terms here. Please note that certain gene sets have special access terms.