CHGB (Chromogranin B)
Gene encoding secretogranin-1, a neuroendocrine secretory protein involved in granule biogenesis and hormone packaging.
Gene Information Card
| Symbol | CHGB |
|---|---|
| Full Name | Chromogranin B |
| Gene Type | protein-coding |
| Chromosomal Location | 20p12.3 |
| NCBI Gene ID | 1114 ncbi.nlm.nih.gov/gene/1114 |
| Ensembl ID | ENSG00000189159 |
| UniProt ID | P05060 |
| OMIM ID | 118920 |
| HGNC ID | 1931 |
| Aliases | SCGB1, SgI, secretogranin-1 |
Description
CHGB encodes chromogranin B (secretogranin-1), a member of the granin family of neuroendocrine secretory proteins. It is localized in dense-core secretory granules and plays a key role in granule biogenesis, hormone/neuropeptide packaging, and regulated secretion. CHGB is widely used as a tissue marker for neuroendocrine tumors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pheochromocytoma | Overexpression of CHGB in chromaffin cells; used as serum biomarker | PMID: 25720357 |
| Neuroblastoma | Elevated CHGB expression correlates with poor prognosis | PMID: 12471204 |
| Pancreatic neuroendocrine tumors | CHGB immunohistochemistry aids diagnosis | PMID: 22960655 |
| Medullary thyroid carcinoma | CHGB secretion used as tumor marker | PMID: 16858367 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adrenal gland | 1245.2 | High |
| Pituitary gland | 892.4 | High |
| Pancreas | 345.1 | Medium |
| Thyroid | 210.8 | Medium |
| Brain (cerebellum) | 78.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 156.2 | High expression |
| PC-12 (pheochromocytoma) | 203.5 | High expression |
| HeLa | 12.4 | Low expression |
| HEK293 | 8.7 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.442C>T (p.Arg148*) | Nonsense | <0.01% | Premature truncation; loss of function |
| c.785G>A (p.Arg262Gln) | Missense | <0.01% | Unknown functional effect |
| c.1120_1121insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants (e.g., p.Arg148*, c.1120_1121insA) are predicted to cause loss of function via nonsense-mediated decay or truncated protein.
Gain of Function (GOF)
No gain-of-function mutations reported in CHGB.
Dominant Negative (DN)
No dominant-negative mutations reported in CHGB.
View complete mutation data:
Gene Ontology (GO)
Pathways
• Neuroactive ligand-receptor interaction (KEGG: hsa04080)
• Regulated exocytosis (Reactome: R-HSA-422085)
• Granin family pathway (UniProt)
Protein Summary
Chromogranin B (secretogranin-1) is a 657-amino acid acidic glycoprotein stored in dense-core secretory granules of neuroendocrine cells. It is cleaved into bioactive peptides (e.g., secretolytin) that modulate hormone secretion, calcium homeostasis, and cell adhesion. The protein is a precursor to several smaller peptides with autocrine/paracrine functions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHGB Knockout HEK293 Cell Line | EDJ-KQ3565 | Human | 1114 | Details Get a Quote |
| CHGB Knockout A-549 Cell Line | EDJ-KQ26741 | Human | 1114 | Details Get a Quote |
| CHGB Knockout HeLa Cell Line | EDJ-KQ52890 | Human | 1114 | Details Get a Quote |
| CHGB Knockout HCT 116 Cell Line | EDJ-KQ69855 | Human | 1114 | Details Get a Quote |
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