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5 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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AAMDC
adipogenesis associated Mth938 domain containing
Chromosome 11 · 11q14.1
NCBI Gene: 28971Ensembl: ENSG00000087884.15HGNC: HGNC:30205UniProt: E9PLK9
32PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingpositive regulation of fat cell differentiationcytoplasmSjogren syndromehandednessprostate carcinomaliver disease
✦AI Summary

AAMDC (adipogenesis associated Mth938 domain containing) is a multifunctional protein with roles in both metabolic regulation and cancer progression. In normal physiology, AAMDC promotes preadipocyte differentiation and adipogenesis 1, with its expression regulated through alternative polyadenylation and microRNA control 1. The short AAMDC isoform demonstrates higher translation efficiency and promotes bovine preadipocyte differentiation 1. In cancer contexts, AAMDC functions as an oncogene amplified in estrogen receptor-positive breast cancers, where it regulates metabolic enzymes in folate, methionine, and lipid metabolism pathways 2. AAMDC controls PI3K-AKT-mTOR signaling by regulating ATF4 and MYC translation, enabling estrogen-independent tumor growth 2. AAMDC interacts with RabGAP1L and localizes to endolysosomes 2. In gastric cancer, AAMDC mediates autophagy through the AAMDC/MYC/ATF4/Sesn2 pathway to promote tumorigenesis 3. Beyond cancer, AAMDC variants are associated with hepatitis B susceptibility in genome-wide association studies 4, and differential AAMDC expression occurs in Toxoplasma gondii-infected macrophages, potentially affecting immune responses 5. AAMDC-overexpressing tumors exhibit sensitivity to PI3K-mTOR inhibitors combined with anti-estrogens, suggesting therapeutic potential 2.

Sources cited
1
AAMDC is an oncogene amplified in breast cancer that controls PI3K-AKT-mTOR signaling, regulates metabolic enzymes, and interacts with RabGAP1L
PMID: 33772001
2
AAMDC is associated with hepatitis B susceptibility through transcriptome-wide association analysis
PMID: 36167494
3
AAMDC is differentially expressed in Toxoplasma gondii-infected macrophages
PMID: 39935538
4
AAMDC mediates autophagy through the AAMDC/MYC/ATF4/Sesn2 pathway in gastric cancer
PMID: 36789094
5
AAMDC promotes preadipocyte differentiation and its expression is regulated by alternative polyadenylation and microRNAs
PMID: 31116411
Disease Associationsⓘ20
Sjogren syndromeOpen Targets
0.27Weak
handednessOpen Targets
0.15Weak
prostate carcinomaOpen Targets
0.11Weak
liver diseaseOpen Targets
0.07Suggestive
infectionOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.04Suggestive
breast cancerOpen Targets
0.04Suggestive
gastric cancerOpen Targets
0.03Suggestive
cancerOpen Targets
0.02Suggestive
rosaceaOpen Targets
0.01Suggestive
acute quadriplegic myopathyOpen Targets
0.01Suggestive
juvenile dermatomyositisOpen Targets
0.01Suggestive
stomach neoplasmOpen Targets
0.01Suggestive
ulcerative colitisOpen Targets
0.00Suggestive
melanomaOpen Targets
0.00Suggestive
cutaneous lupus erythematosusOpen Targets
0.00Suggestive
asthmaOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
uterine corpus endometrial carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ADIRFShared pathway100%MEDAGShared pathway100%WDFY2Shared pathway50%LMO3Shared pathway33%ASXL2Shared pathway33%ADIGShared pathway17%
Tissue Expression6 tissues
Heart
100%
Ovary
50%
Lung
44%
Brain
43%
Liver
38%
Bone Marrow
9%
Gene Interaction Network
Click a node to explore
AAMDCADIRFMEDAGWDFY2LMO3ASXL2ADIG
PROTEIN STRUCTURE
Preparing viewer…
PDB2AB1 · 2.59 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.57LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.01 [0.67–1.57]
RankingsWhere AAMDC stands among ~20K protein-coding genes
  • #11,456of 20,598
    Most Researched32
  • #15,533of 17,882
    Most Constrained (LOEUF)1.57
Genes detectedAAMDC
Sources retrieved5 papers
Response time—
📄 Sources
5
1
The oncogene AAMDC links PI3K-AKT-mTOR signaling with metabolic reprograming in estrogen receptor-positive breast cancer.
PMID: 33772001
Nat Commun · 2021
1.00
2
Genome-wide association analyses of common infections in a large practice-based biobank.
PMID: 36167494
BMC Genomics · 2022
0.80
3
Transcriptional profiles analysis of effects of
PMID: 39935538
Front Cell Infect Microbiol · 2024
0.60
4
Solanine Represses Gastric Cancer Growth by Mediating Autophagy Through AAMDC/MYC/ATF4/Sesn2 Signaling Pathway.
PMID: 36789094
Drug Des Devel Ther · 2023
0.40
5
Adipogenesis associated Mth938 domain containing (AAMDC) protein expression is regulated by alternative polyadenylation and microRNAs.
PMID: 31116411
FEBS Lett · 2019
0.20