CHGA
chromogranin A
Summary
The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. It is found in secretory vesicles of neurons and endocrine cells. This gene product is a precursor to three biologically active peptides; vasostatin, pancreastatin, and parastatin. These peptides act as autocrine or paracrine negative modulators of the neuroendocrine system. Two other peptides, catestatin and chromofungin, have antimicrobial activity and antifungal activity, respectively. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]
Known Variants23 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs149847247 | 14:93,390,570 | A/T | — | uncertain significance |
| rs767658123 | 14:93,392,995 | C/T | — | uncertain significance |
| rs776721726 | 14:93,393,900 | C/T | — | uncertain significance |
| rs372495668 | 14:93,393,954 | G/A | — | uncertain significance |
| rs763150530 | 14:93,396,100 | G/A | — | likely benign |
| rs1566674156 | 14:93,396,118 | T/C | — | uncertain significance |
| rs539889244 | 14:93,396,124 | G/T | — | uncertain significance |
| rs756000508 | 14:93,397,807 | C/G | — | uncertain significance |
| rs578186826 | 14:93,397,843 | G/C | — | uncertain significance |
| rs763194632 | 14:93,397,892 | G/C | — | uncertain significance |
| rs1465378809 | 14:93,398,762 | G/C | — | uncertain significance |
| rs2504235598 | 14:93,398,801 | C/A | — | uncertain significance |
| rs753407523 | 14:93,398,805 | C/T | — | uncertain significance |
| rs1396915457 | 14:93,398,826 | A/C | — | uncertain significance |
| rs1421947580 | 14:93,398,864 | G/A | — | uncertain significance |
| rs771215098 | 14:93,398,894 | G/A | — | uncertain significance |
| rs1279326391 | 14:93,398,895 | A/G | — | uncertain significance |
| rs1379468193 | 14:93,398,948 | C/G | — | uncertain significance |
| rs1438280197 | 14:93,399,044 | G/T | — | uncertain significance |
| rs9658667 | 14:93,399,050 | G/A | missense variant | — |
| rs776448712 | 14:93,399,102 | G/A | — | likely benign |
| rs769369863 | 14:93,399,179 | G/A | — | uncertain significance |
| rs1221251480 | 14:93,401,216 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.