HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
8 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MAMDC4
MAM domain containing 4
Chromosome 9 · 9q34.3
NCBI Gene: 158056Ensembl: ENSG00000177943.15HGNC: HGNC:24083UniProt: Q6UXC1
9PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nervous system developmentmembranelymphatic system diseasehepatocellular carcinomachildhood supratentorial ependymomadiabetes mellitus
✦AI Summary

MAMDC4 (MAM domain containing 4) is an endosomal membrane protein primarily involved in regulating intestinal epithelial homeostasis and receptor transport. During postnatal intestinal development, MAMDC4 localizes to the apical endocytic complex of villus enterocytes and is essential for normal proliferation 1. The protein functions as an endosomal regulator that mediates cross-talk between YAP and β-catenin signaling pathways through non-canonical interactions involving AMOT, thereby fine-tuning transcriptional activity critical for intestinal stem cell proliferation and differentiation 2. MAMDC4 expression is dynamically regulated during postnatal development and is significantly influenced by intestinal bacterial colonization, with different bacterial species showing distinct effects on its maintenance 3. Clinically, MAMDC4 variants have been implicated in genetic disease susceptibility. A rare out-of-frame MAMDC4 deletion was identified in a multigenerational family with axial spondyloarthritis, suggesting disease pathogenesis through RNA-mediated decay 4. Additionally, MAMDC4 belongs to a subset of genes enriched in rare variants with similarities to disease-causing variants, making it a strong candidate for disease discovery in sequencing studies 5. MAMDC4 expression changes have also been associated with cardiovascular and cancer pathologies, showing upregulation in Western diet-associated atherosclerosis 6 and altered expression in prostate cancer contexts 78.

Sources cited
1
MAMDC4/Endotubin is an endosomal protein essential for proliferation in developing intestine through regulation of Wnt signaling
PMID: 34411593
2
MAMDC4 is an endosomal protein that regulates YAP and β-catenin activity through non-canonical AMOT-mediated cross-talk
PMID: 38787854
3
MAMDC4 localizes to apical intestinal epithelium during postnatal development and its expression is regulated by bacterial colonization
PMID: 27821716
4
A rare out-of-frame MAMDC4 deletion was identified in familial axial spondyloarthritis, with RNA-mediated decay as the causative mechanism
PMID: 25956157
5
MAMDC4 is enriched in rare variants with properties similar to disease-causing variants, making it a candidate for disease discovery
PMID: 29197136
6
MAMDC4 was upregulated in iliac arteries of monkeys on Western diet associated with increased atherosclerosis
PMID: 40709334
7
MAMDC4 was downregulated by deslanoside in prostate cancer cells and inversely correlated with disease-free survival
PMID: 34830961
8
MAMDC4 expression is increased in prostatic ductal adenocarcinoma compared to prostatic acinar adenocarcinoma
PMID: 37805392
Disease Associationsⓘ20
lymphatic system diseaseOpen Targets
0.12Weak
hepatocellular carcinomaOpen Targets
0.02Suggestive
childhood supratentorial ependymomaOpen Targets
0.02Suggestive
diabetes mellitusOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
autoimmune thrombocytopenic purpuraOpen Targets
0.01Suggestive
liver cancerOpen Targets
0.01Suggestive
steatosisOpen Targets
0.01Suggestive
Duane retraction syndromeOpen Targets
0.01Suggestive
Patent ductus arteriosusOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
colorectal cancerOpen Targets
0.01Suggestive
liver neoplasmOpen Targets
0.00Suggestive
mental or behavioural disorderOpen Targets
0.00Suggestive
esophageal adenocarcinomaOpen Targets
0.00Suggestive
non-alcoholic steatohepatitisOpen Targets
0.00Suggestive
cytomegalovirus infectionOpen Targets
0.00Suggestive
posterior cortical atrophyOpen Targets
0.00Suggestive
prostatic acinar adenocarcinomaOpen Targets
0.00Suggestive
psoriasisOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HOXB2Shared pathway100%MOBPShared pathway100%SCRG1Shared pathway100%IRF2BPLShared pathway100%NRSN2Shared pathway100%GNG8Shared pathway100%
Tissue Expression6 tissues
Liver
100%
Ovary
19%
Lung
19%
Bone Marrow
15%
Heart
12%
Brain
1%
Gene Interaction Network
Click a node to explore
MAMDC4HOXB2MOBPSCRG1IRF2BPLNRSN2GNG8
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6UXC1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.33LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.17 [1.03–1.33]
RankingsWhere MAMDC4 stands among ~20K protein-coding genes
  • #17,371of 20,598
    Most Researched9
  • #13,952of 17,882
    Most Constrained (LOEUF)1.33
Genes detectedMAMDC4
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
Private rare deletions in SEC16A and MAMDC4 may represent novel pathogenic variants in familial axial spondyloarthritis.
PMID: 25956157
Ann Rheum Dis · 2016
1.00
2
Differential effects of Mediterranean vs. Western diets on coronary atherosclerosis and peripheral artery transcriptomics.
PMID: 40709334
Front Nutr · 2025
0.88
3
The Cardiac Glycoside Deslanoside Exerts Anticancer Activity in Prostate Cancer Cells by Modulating Multiple Signaling Pathways.
PMID: 34830961
Cancers (Basel) · 2021
0.75
4
Postnatal regulation of MAMDC4 in the porcine intestinal epithelium is influenced by bacterial colonization.
PMID: 27821716
Physiol Rep · 2016
0.63
5
Regulation of YAP and Wnt signaling by the endosomal protein MAMDC4.
PMID: 38787854
PLoS One · 2024
0.50