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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MS4A12
membrane spanning 4-domains A12
Chromosome 11 · 11q12.2
NCBI Gene: 54860Ensembl: ENSG00000071203.10HGNC: HGNC:13370UniProt: Q9NXJ0
15PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Receptor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcell surface receptor signaling pathwayplasma membranemembranevitamin B12 deficiencyrectum cancercolorectal cancercolorectal adenocarcinoma
✦AI Summary

MS4A12 is a colon-specific membrane-spanning four-transmembrane protein 1 that functions as a store-operated calcium (Ca2+) channel involved in cell differentiation and proliferation. MS4A12 exhibits store-operated Ca2+ entry (SOCE) activity uniquely in colonic tissues 2 and contributes to SOCE through complex formation with Orai1, independent of STIM1 cooperation 2. The gene is transcriptionally regulated by the CDX2 homeobox transcription factor, which binds to a single element in the MS4A12 promoter, ensuring colon-specific expression 3. Mechanistically, MS4A12 sensitizes cells for epidermal growth factor-mediated proliferation and chemotaxis 3, and its expression is critical for normal colonic epithelial differentiation 4. In colorectal cancer, MS4A12 expression is dramatically decreased with cancer progression 2. Clinically, MS4A12 serves as a significant diagnostic and prognostic biomarker; low MS4A12 expression predicts worse overall survival in early-stage colorectal cancer 4 and is identified among hub genes distinguishing primary colorectal cancer from normal tissue 5. Additionally, MS4A12 genetic variants (rs4939378) predict response to oxaliplatin-based chemotherapy in stage III and metastatic colorectal cancer 67, with potential utility as pharmacogenetic markers for treatment selection.

Sources cited
1
MS4A12 is a colon-specific membrane-spanning 4-domain protein with four-transmembrane structure
PMID: 39717774
2
MS4A12 exhibits store-operated Ca2+ entry activity and contributes to SOCE through complex formation with Orai1, and its expression is decreased in colon cancer tissues
PMID: 33935043
3
MS4A12 is regulated by CDX2 transcription factor and sensitizes cells for EGF-mediated proliferation and chemotaxis
PMID: 19781065
4
MS4A12 is involved in colon cancer cell differentiation and predicts early-stage survival; low expression associated with poor survival (HR=1.72)
PMID: 27881006
5
MS4A12 is identified as a significant hub gene and biomarker in primary colorectal cancer
PMID: 32797167
6
MS4A12 rs4939378 polymorphism predicts outcome in stage III colorectal cancer treated with adjuvant therapy
PMID: 32732498
7
MS4A12 rs4939378 SNP predicts response to oxaliplatin-based treatment in metastatic colorectal cancer
PMID: 33542444
Disease Associationsⓘ20
vitamin B12 deficiencyOpen Targets
0.28Weak
rectum cancerOpen Targets
0.05Suggestive
colorectal cancerOpen Targets
0.05Suggestive
colorectal adenocarcinomaOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
carcinomaOpen Targets
0.04Suggestive
Crohn's diseaseOpen Targets
0.04Suggestive
immunodeficiency 75Open Targets
0.03Suggestive
Kimura diseaseOpen Targets
0.03Suggestive
Hepatic veno-occlusive disease - immunodeficiencyOpen Targets
0.03Suggestive
hepatic veno-occlusive disease-immunodeficiency syndromeOpen Targets
0.03Suggestive
esophageal squamous cell carcinomaOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
response to radiationOpen Targets
0.02Suggestive
ulcerative colitisOpen Targets
0.02Suggestive
adenomaOpen Targets
0.01Suggestive
colorectal carcinomaOpen Targets
0.01Suggestive
adenocarcinomaOpen Targets
0.01Suggestive
colonic neoplasmOpen Targets
0.01Suggestive
nasopharyngeal type undifferentiated carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MS4A18Shared pathway100%MS4A13Shared pathway100%ADGRD2Shared pathway100%MS4A15Shared pathway100%ADGRA3Shared pathway100%ADGRG7Shared pathway100%
Tissue Expression6 tissues
Heart
0%
Brain
0%
Ovary
0%
Lung
0%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
MS4A12MS4A18MS4A13ADGRD2MS4A15ADGRA3ADGRG7
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9NXJ0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.58LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.16 [0.87–1.58]
RankingsWhere MS4A12 stands among ~20K protein-coding genes
  • #15,628of 20,598
    Most Researched15
  • #15,603of 17,882
    Most Constrained (LOEUF)1.58
Genes detectedMS4A12
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
CLCA4 and MS4A12 as the significant gene biomarkers of primary colorectal cancer.
PMID: 32797167
Biosci Rep · 2020
1.00
2
Single-cell dissection of transcriptional heterogeneity in human colon tumors.
PMID: 22081019
Nat Biotechnol · 2011
0.90
3
MS4A superfamily molecules in tumors, Alzheimer's and autoimmune diseases.
PMID: 39717774
Front Immunol · 2024
0.80
4
Decreased expression of MS4A12 inhibits differentiation and predicts early stage survival in colon cancer.
PMID: 27881006
Neoplasma · 2017
0.70
5
Role of enterocyte-specific gene polymorphisms in response to adjuvant treatment for stage III colorectal cancer.
PMID: 32732498
Pharmacogenet Genomics · 2021
0.60