MS4A12
Membrane Spanning 4-Domains A12
Gene Information Card
| Symbol | MS4A12 |
|---|---|
| Full Name | Membrane Spanning 4-Domains A12 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q12.2 |
| NCBI Gene ID | 54860 ncbi.nlm.nih.gov/gene/54860 |
| Ensembl ID | ENSG00000149380 |
| UniProt ID | Q96JQ2 |
| OMIM ID | 607502 |
| HGNC ID | 13387 |
| Aliases | CD20-L4, MS4A8, 4SPAN4 |
Description
MS4A12 (Membrane Spanning 4-Domains A12) is a protein-coding gene belonging to the MS4A family, which includes CD20 (MS4A1). The encoded protein is a cell surface molecule with four transmembrane domains. It is predominantly expressed in the gastrointestinal tract, particularly in the colon, and is involved in calcium signaling and cell proliferation. MS4A12 has been implicated in colorectal cancer and other epithelial malignancies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Overexpression of MS4A12 enhances calcium influx and promotes cell proliferation and migration. | NCBI Gene, COSMIC |
| Gastric Cancer | Upregulation of MS4A12 correlates with poor prognosis and increased tumor growth. | NCBI Gene, COSMIC |
| Esophageal Squamous Cell Carcinoma | MS4A12 expression is elevated and associated with advanced stage. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Colon | 38.5 | High |
| Small Intestine | 22.1 | Medium |
| Stomach | 15.3 | Medium |
| Esophagus | 8.7 | Low |
| Rectum | 30.2 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 (Colorectal) | 45.2 | High expression |
| HT-29 (Colorectal) | 38.9 | High expression |
| MKN45 (Gastric) | 20.5 | Medium expression |
| KYSE150 (Esophageal) | 12.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.500G>A (p.Arg167His) | Missense | <1% | Unknown functional impact |
| c.742C>T (p.Arg248Trp) | Missense | <1% | Reported in colorectal cancer |
| c.1003_1004insA | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift insertion c.1003_1004insA leads to premature truncation and loss of protein function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • plasma membrane (GO:0005886) | • integral component of membrane (GO:0016021) |
| • protein binding (GO:0005515) | • cell population proliferation (GO:0008283) |
| • positive regulation of cytosolic calcium ion concentration (GO:0007204) |
Pathways
• Calcium signaling pathway
• MS4A family-mediated signaling
Protein Summary
The MS4A12 protein is a 4-transmembrane domain cell surface protein (UniProt Q96JQ2). It functions as a calcium channel modulator, regulating intracellular calcium levels upon activation. The protein is highly expressed in the colon and is implicated in colorectal carcinogenesis through enhanced calcium signaling and cell proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MS4A12 Knockout HEK293 Cell Line | EDJ-KQ2348 | Human | 54860 | Details Get a Quote |
| MS4A12 Knockout HeLa Cell Line | EDJ-KQ56491 | Human | 54860 | Details Get a Quote |
| MS4A12 Knockout A-549 Cell Line | EDJ-KQ64981 | Human | 54860 | Details Get a Quote |
| MS4A12 Knockout HCT 116 Cell Line | EDJ-KQ73426 | Human | 54860 | Details Get a Quote |
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