CHGA (Chromogranin A)
Gene encoding chromogranin A, a neuroendocrine secretory protein and precursor of bioactive peptides
Gene Information Card
| Symbol | CHGA |
|---|---|
| Full Name | Chromogranin A |
| Gene Type | protein-coding |
| Chromosomal Location | 14q32.12 |
| NCBI Gene ID | 1113 ncbi.nlm.nih.gov/gene/1113 |
| Ensembl ID | ENSG00000100604 |
| UniProt ID | P10645 |
| OMIM ID | 118910 |
| HGNC ID | 1929 |
| Aliases | CGA, chromogranin A, parathyroid secretory protein 1 |
Description
CHGA encodes chromogranin A, a member of the granin family of acidic secretory glycoproteins. It is stored in dense-core secretory granules of neuroendocrine cells and is proteolytically processed to generate multiple bioactive peptides (e.g., vasostatin, pancreastatin, catestatin) that regulate hormone secretion, vascular tone, and immune response. CHGA is widely used as a serum biomarker for neuroendocrine tumors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neuroendocrine tumors | Elevated CHGA secretion due to tumor burden; used as diagnostic and prognostic biomarker | ClinVar, NCBI |
| Hypertension | Catestatin peptide derived from CHGA inhibits catecholamine release; polymorphisms associated with blood pressure regulation | OMIM, UniProt |
| Inflammatory bowel disease | Altered CHGA expression in intestinal neuroendocrine cells; contributes to mucosal inflammation | NCBI, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adrenal gland | 125.6 | High |
| Pituitary gland | 98.3 | High |
| Pancreas | 45.2 | Medium |
| Thyroid | 32.1 | Medium |
| Small intestine | 28.7 | Medium |
| Lung | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NCI-H727 (lung carcinoid) | 112.5 | Neuroendocrine origin |
| BON-1 (pancreatic carcinoid) | 98.0 | High CHGA expression |
| PC12 (rat pheochromocytoma) | 85.3 | Model for neurosecretion |
| HEK293 | 2.1 | Low endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.493C>T (p.Arg165Trp) | Missense | <0.01% | Unknown functional effect |
| c.814G>A (p.Gly272Ser) | Missense | <0.01% | Reported in ClinVar as uncertain significance |
| c.1175_1176del (p.Glu392fs) | Frameshift | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Glu392fs) predicted to truncate the protein, impairing peptide processing and secretion.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in CHGA.
Dominant Negative (DN)
No evidence for dominant-negative effects; CHGA functions as a monomeric precursor.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Neuroactive ligand-receptor interaction (KEGG: hsa04080)
• Regulation of insulin secretion (Reactome: R-HSA-422356)
Protein Summary
Chromogranin A (UniProt P10645) is a 457-amino-acid acidic glycoprotein (49 kDa) localized to secretory vesicles of neuroendocrine cells. It undergoes tissue-specific proteolytic cleavage to yield several biologically active peptides: vasostatin I (N-terminal), pancreastatin (mid-region), and catestatin (C-terminal). These peptides modulate calcium homeostasis, catecholamine release, and glucose metabolism. CHGA is a validated serum biomarker for neuroendocrine neoplasms and is implicated in cardiovascular and inflammatory disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHGA Knockout HEK293 Cell Line | EDJ-KQ2880 | Human | 1113 | Details Get a Quote |
| CHGA Knockout A-549 Cell Line | EDJ-KQ23934 | Human | 1113 | Details Get a Quote |
| CHGA Knockout HeLa Cell Line | EDJ-KQ52889 | Human | 1113 | Details Get a Quote |
| CHGA Knockout HCT 116 Cell Line | EDJ-KQ69854 | Human | 1113 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
