CALCA (Calcitonin Related Polypeptide Alpha)
Key regulator of calcium homeostasis and vasodilation, implicated in migraine and medullary thyroid carcinoma
Gene Information Card
| Symbol | CALCA |
|---|---|
| Full Name | Calcitonin Related Polypeptide Alpha |
| Gene Type | protein-coding |
| Chromosomal Location | 11p15.2 |
| NCBI Gene ID | 796 ncbi.nlm.nih.gov/gene/796 |
| Ensembl ID | ENSG00000110680 |
| UniProt ID | P01258 |
| OMIM ID | 114130 |
| HGNC ID | 1437 |
| Aliases | CALC1, CGRP, CGRP-I, CT, KC, MGC138426 |
Description
The CALCA gene encodes two peptide hormones: calcitonin and calcitonin gene-related peptide (CGRP), produced via alternative splicing. Calcitonin regulates calcium and phosphate metabolism by inhibiting osteoclast activity, while CGRP is a potent vasodilator and neuromodulator involved in pain transmission, particularly in migraine pathophysiology. The gene is located on chromosome 11p15.2 and is expressed primarily in thyroid C-cells and neuronal tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Medullary Thyroid Carcinoma | Somatic mutations (e.g., RET activation) lead to elevated calcitonin secretion from C-cells; CALCA expression is a tumor marker. | ClinVar, COSMIC |
| Migraine | CGRP released from trigeminal neurons causes vasodilation and neurogenic inflammation; CGRP receptor antagonists are therapeutic. | OMIM, NCBI |
| Hypercalcemia | Ectopic calcitonin secretion from tumors can alter calcium homeostasis. | NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Thyroid | 0.0 | Not detected |
| Brain (cerebellum) | 0.0 | Not detected |
| Spinal cord | 0.0 | Not detected |
| Testis | 0.0 | Not detected |
| Adipose tissue | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 0.0 | No expression |
| HeLa (cervical cancer) | 0.0 | No expression |
| SH-SY5Y (neuroblastoma) | 0.0 | No expression |
| HepG2 (liver cancer) | 0.0 | No expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | Rare | Alters start codon; potential loss of function |
| c.2T>C | missense | Rare | p.Met1Thr; likely loss of function |
| c.3G>A | missense | Rare | p.Met1Ile; likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense mutations affecting the start codon (e.g., p.Met1Thr) are predicted to abolish translation initiation, leading to loss of both calcitonin and CGRP.
Gain of Function (GOF)
No documented gain-of-function mutations in CALCA; overexpression in medullary thyroid carcinoma is secondary to RET mutations.
Dominant Negative (DN)
Not described for CALCA.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Calcitonin signaling (Reactome: R-HSA-418594)
• CGRP signaling (Reactome: R-HSA-420092)
• GPCR ligand binding (Reactome: R-HSA-375276)
Protein Summary
The CALCA gene produces two distinct peptides via alternative splicing: calcitonin (32 amino acids) and CGRP (37 amino acids). Calcitonin is secreted by thyroid C-cells and lowers blood calcium by inhibiting osteoclast bone resorption. CGRP is a neuropeptide widely expressed in the central and peripheral nervous systems, acting as a potent vasodilator and pain modulator. Both peptides exert their effects through G-protein-coupled receptors: calcitonin receptor (CALCR) and CGRP receptor (CALCRL/RAMP1 complex).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CALCA Knockout HEK293 Cell Line | EDJ-KQ4188 | Human | 796 | Details Get a Quote |
| CALCA Knockout HCT 116 Cell Line | EDJ-KQ26634 | Human | 796 | Details Get a Quote |
| CALCA Knockout HeLa Cell Line | EDJ-KQ52779 | Human | 796 | Details Get a Quote |
| CALCA Knockout A-549 Cell Line | EDJ-KQ61247 | Human | 796 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
