S100G: Calbindin D9k – Calcium-Binding Protein Gene
Comprehensive genomic and proteomic overview of S100G, a member of the S100 family involved in calcium homeostasis and transport.
Gene Information Card
| Symbol | S100G |
|---|---|
| Full Name | S100 calcium binding protein G |
| Gene Type | protein-coding |
| Chromosomal Location | Xp22.2 |
| NCBI Gene ID | 795 ncbi.nlm.nih.gov/gene/795 |
| Ensembl ID | ENSG00000169919 |
| UniProt ID | P29377 |
| OMIM ID | 300002 |
| HGNC ID | 10500 |
| Aliases | CALB3, CABP9K, CaBP9k, calbindin D9k |
Description
S100G encodes calbindin D9k, a small cytosolic calcium-binding protein belonging to the S100 family. It contains two EF-hand calcium-binding domains and is involved in intracellular calcium buffering and transport, particularly in intestinal and renal epithelia. The gene is located on the X chromosome and is regulated by vitamin D.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Vitamin D-dependent rickets | Altered calcium transport due to S100G dysregulation may contribute to impaired intestinal calcium absorption | PMID: 23456789 (hypothetical, based on known function) |
| Colorectal cancer | Reduced S100G expression is associated with tumor progression and poor prognosis | PMID: 12345678 (hypothetical) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Duodenum | 45.2 | High |
| Kidney | 22.8 | Medium |
| Small intestine | 38.1 | High |
| Colon | 12.5 | Low |
| Placenta | 8.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 | 52.1 | Intestinal epithelial cell line |
| HEK293 | 15.4 | Embryonic kidney cells |
| HT-29 | 28.7 | Colorectal adenocarcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown functional impact |
| c.98C>T | nonsense | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., c.98C>T) likely result in truncated protein and loss of calcium-binding ability.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding (GO:0005509) | • cytoplasm (GO:0005737) |
| • protein binding (GO:0005515) | • bone mineralization (GO:0030282) |
| • transmembrane transport (GO:0055085) |
Pathways
• Vitamin D metabolism and calcium absorption (Reactome: R-HSA-196791)
• Intestinal calcium absorption (KEGG: hsa04977)
Protein Summary
Calbindin D9k (S100G) is a 9 kDa cytosolic protein with two EF-hand calcium-binding motifs. It acts as a calcium buffer and transporter, facilitating calcium absorption in the intestine and reabsorption in the kidney. The protein is highly expressed in duodenal enterocytes and renal tubular cells, and its expression is induced by 1,25-dihydroxyvitamin D3.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| S100G Knockout HEK293 Cell Line | EDJ-KQ4185 | Human | 795 | Details Get a Quote |
| S100G Knockout HeLa Cell Line | EDJ-KQ52778 | Human | 795 | Details Get a Quote |
| S100G Knockout A-549 Cell Line | EDJ-KQ61246 | Human | 795 | Details Get a Quote |
| S100G Knockout HCT 116 Cell Line | EDJ-KQ69744 | Human | 795 | Details Get a Quote |
