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6 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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MS4A14
membrane spanning 4-domains A14
Chromosome 11 · 11q12.2
NCBI Gene: 84689Ensembl: ENSG00000166928.11HGNC: HGNC:30706UniProt: A0A0A0MS57
7PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Receptor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcell surface receptor signaling pathwayplasma membranemembraneessential tremorresponse to radiationAcute hepatic failureprostate carcinoma
✦AI Summary

MS4A14 is a tetraspanin-like membrane protein with a four-transmembrane domain topology 1. As a component of multimeric receptor complexes, it may facilitate cell surface signaling and receptor-mediated processes. MS4A14 is predominantly expressed in germ cells, specifically localizing to the acrosome and flagellar midpiece of mature spermatozoa, where it plays a role in fertilization and early zygotic development 1. The protein is also expressed in myeloid cells, including circulating monocytes, with expression decreasing during monocyte-to-macrophage differentiation 2. Clinically, MS4A14 variants have been associated with idiopathic recurrent pregnancy loss (RPL), with the MS4A14 I allele potentially serving as a biomarker when combined with prolonged prothrombin time 3. MS4A14 has emerged as a hub gene in immune dysfunction associated with Behçet's syndrome 4 and as a component of a six-gene phagocytosis-dependent signature predicting prognosis and immunotherapy response in clear-cell renal cell carcinoma 5. Additionally, MS4A14 is upregulated during manic episodes in bipolar disorder patients, suggesting involvement in immune-related pathways relevant to psychiatric disease 6. These findings indicate MS4A14 has broad roles spanning reproduction, immune regulation, and disease pathogenesis.

Sources cited
1
MS4A14 is a tetraspanin protein with four-transmembrane domains expressed in spermatids and spermatozoa, localized to the acrosome and flagellar midpiece, involved in fertilization and zygote division
PMID: 24694585
2
MS4A14 D>I polymorphism (rs3217518) is associated with recurrent pregnancy loss risk in combination with other genetic and blood coagulation factors; MS4A14 I allele with prolonged prothrombin time may be a biomarker for RPL
PMID: 29956771
3
MS4A14 is expressed in myeloid cells including circulating monocytes and decreases during monocyte-to-macrophage differentiation
PMID: 34346525
4
MS4A14 is identified as a hub gene in CD4+ T cells in Behçet's syndrome patients, associated with inflammation and immune dysregulation
PMID: 36226612
5
MS4A14 is a component of a six-gene phagocytosis-dependent signature predicting prognosis and immunotherapy response in clear-cell renal cell carcinoma
PMID: 35651604
6
MS4A14 is upregulated during manic episodes in bipolar disorder patients and implicated in immune function-related pathways
PMID: 31118907
Disease Associationsⓘ20
essential tremorOpen Targets
0.11Weak
response to radiationOpen Targets
0.02Suggestive
Acute hepatic failureOpen Targets
0.02Suggestive
prostate carcinomaOpen Targets
0.01Suggestive
gastric cancerOpen Targets
0.01Suggestive
tuberous sclerosisOpen Targets
0.01Suggestive
rheumatoid arthritisOpen Targets
0.01Suggestive
autismOpen Targets
0.01Suggestive
papillary thyroid carcinomaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.00Suggestive
Bloom syndromeOpen Targets
0.00Suggestive
Posterior Leukoencephalopathy SyndromeOpen Targets
0.00Suggestive
clear cell renal carcinomaOpen Targets
0.00Suggestive
colorectal carcinomaOpen Targets
0.00Suggestive
epilepsyOpen Targets
0.00Suggestive
hereditary diffuse gastric adenocarcinomaOpen Targets
0.00Suggestive
metastatic melanomaOpen Targets
0.00Suggestive
astrocytomaOpen Targets
0.00Suggestive
invasive breast ductal carcinomaOpen Targets
0.00Suggestive
X-linked hyper-IgM syndromeOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CD101Shared pathway100%ADGRL1Shared pathway100%CLEC1AShared pathway100%MS4A12Shared pathway100%MS4A7Shared pathway100%ADGRL4Shared pathway100%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
29%
Liver
25%
Heart
20%
Ovary
8%
Brain
2%
Gene Interaction Network
Click a node to explore
MS4A14CD101ADGRL1CLEC1AMS4A12MS4A7ADGRL4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96JA4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.55LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.96 [0.62–1.55]
RankingsWhere MS4A14 stands among ~20K protein-coding genes
  • #17,875of 20,598
    Most Researched7
  • #15,441of 17,882
    Most Constrained (LOEUF)1.55
Genes detectedMS4A14
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
cDNA cloning and localization of Sp3111 (also called Ms4a14) in the rat testis.
PMID: 24694585
Reproduction · 2014
1.00
2
Association study of frameshift and splice variant polymorphisms with risk of idiopathic recurrent pregnancy loss.
PMID: 29956771
Mol Med Rep · 2018
0.83
3
Differential expression and regulation of MS4A family members in myeloid cells in physiological and pathological conditions.
PMID: 34346525
J Leukoc Biol · 2022
0.67
4
The transcriptional profiling identifies hub genes in immune subsets of patients with Behçet's syndrome.
PMID: 36226612
Clin Exp Rheumatol · 2023
0.50
5
Development of a Phagocytosis-Dependent Gene Signature to Predict Prognosis and Response to Checkpoint Inhibition in Clear-Cell Renal Cell Carcinoma.
PMID: 35651604
Front Immunol · 2022
0.33