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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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AP1M2
adaptor related protein complex 1 subunit mu 2
Chromosome 19 · 19p13.2
NCBI Gene: 10053Ensembl: ENSG00000129354.13HGNC: HGNC:558UniProt: Q53GI5
63PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingclathrin-cargo adaptor activitytrans-Golgi networkGolgi to vacuole transportHIV infectionneurodegenerative diseaseHypercholesterolemialysosomal storage disease
✦AI Summary

AP1M2 (adaptor related protein complex 1 subunit mu 2) is the medium chain subunit of the clathrin-associated AP-1 complex located on chromosome 19.2 1. As a core component of the AP-1 adaptor complex, AP1M2 mediates protein sorting at the trans-Golgi network (TGN) and endosomes by facilitating clathrin recruitment to membranes and recognizing cargo sorting signals 2. AP1M2 is essential for proper vesicle-mediated transport and polarized secretion in epithelial cells. Beyond canonical trafficking functions, AP1M2 plays critical regulatory roles in disease pathogenesis. AP1M2 deficiency causes autoinflammatory disease with colitis through impaired suppression of NF-κB activation; accumulation of TNFR1-signaling proteins (RIPK1, TBK1, IKKα/β, NEMO) leads to excessive chemokine production 3. Conversely, AP1M2 upregulation drives chemoresistance in bladder cancer by stabilizing RAD54B mRNA through interaction with RNA-binding protein PUM1, enhancing DNA repair capacity 4. AP1M2 also promotes triple-negative breast cancer progression and docetaxel resistance via PBX1-mediated transcriptional activation 5, and hepatocellular carcinoma growth through JNK/ERK pathway activation 6. Multi-omics studies identify AP1M2 as causally linked to non-obstructive azoospermia when influenced by environmental endocrine-disrupting chemicals 7.

Sources cited
1
AP1M2 is the medium chain subunit of AP-1 complex; chromosomal localization to human chromosome 19p13.2
PMID: 10640811
2
AP1M2 mediates protein sorting at TGN and endosomes; facilitates clathrin recruitment and polarized secretion in epithelial cells
PMID: 30099531
3
AP1M2 deficiency causes autoinflammatory disease with colitis through impaired suppression of NF-κB activation and excessive chemokine production
PMID: 41451456
4
AP1M2 upregulation drives gemcitabine-cisplatin chemoresistance in bladder cancer by stabilizing RAD54B mRNA through PUM1 interaction
PMID: 40387455
5
PBX1-mediated AP1M2 transcription promotes triple-negative breast cancer progression and docetaxel resistance
PMID: 41621605
6
AP1M2 overexpression promotes hepatocellular carcinoma cell proliferation and migration through JNK/ERK pathway activation
PMID: 39303819
7
AP1M2 is causally linked to non-obstructive azoospermia when influenced by environmental endocrine-disrupting chemicals
PMID: 40956397
Disease Associationsⓘ20
HIV infectionOpen Targets
0.50Moderate
neurodegenerative diseaseOpen Targets
0.33Weak
HypercholesterolemiaOpen Targets
0.32Weak
Alzheimer diseaseOpen Targets
0.27Weak
lysosomal storage diseaseOpen Targets
0.27Weak
multiple sclerosisOpen Targets
0.27Weak
Parkinson diseaseOpen Targets
0.27Weak
crush injuryOpen Targets
0.16Weak
neoplasmOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
Congenital chronic diarrhea with protein-losing enteropathyOpen Targets
0.05Suggestive
congenital diarrhea 7 with exudative enteropathyOpen Targets
0.05Suggestive
DiarrheaOpen Targets
0.05Suggestive
congenital diarrhea 5 with tufting enteropathyOpen Targets
0.05Suggestive
Intestinal epithelial dysplasiaOpen Targets
0.05Suggestive
chylomicron retention diseaseOpen Targets
0.05Suggestive
hepatocellular carcinomaOpen Targets
0.05Suggestive
atresia of small intestineOpen Targets
0.05Suggestive
congenital sodium diarrheaOpen Targets
0.05Suggestive
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndromeOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CLINT1Protein interaction99%AP2A1Protein interaction97%CLTCProtein interaction93%AP3S2Protein interaction91%AFTPHProtein interaction90%ARF1Protein interaction90%
Tissue Expression6 tissues
Brain
100%
Lung
60%
Bone Marrow
7%
Liver
6%
Ovary
1%
Heart
0%
Gene Interaction Network
Click a node to explore
AP1M2CLINT1AP2A1CLTCAP3S2AFTPHARF1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q53GI5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.07LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.83 [0.64–1.07]
RankingsWhere AP1M2 stands among ~20K protein-coding genes
  • #7,338of 20,598
    Most Researched63
  • #10,862of 17,882
    Most Constrained (LOEUF)1.07
Genes detectedAP1M2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
AP1M2 Drives Gemcitabine-Cisplatin Chemoresistance by Enhancing RAD54B-Associated DNA Repair in Bladder Cancer.
PMID: 40387455
FASEB J · 2025
1.00
2
Endocrine disruptors and male infertility: multi-omics identification of key genes in non-obstructive azoospermia.
PMID: 40956397
J Assist Reprod Genet · 2025
0.90
3
Deficiency of AP1M2 Causes a New Autoinflammatory Disease With Colitis.
PMID: 41451456
Arthritis Rheumatol · 2025
0.80
4
Genomic structure and chromosome mapping of the genes encoding clathrin-associated adaptor medium chains mu1A (Ap1m1) and mu1B (Ap1m2).
PMID: 10640811
Cytogenet Cell Genet · 1999
0.70
5
The AP-1 Complex is Required for Proper Mucilage Formation in Arabidopsis Seeds.
PMID: 30099531
Plant Cell Physiol · 2018
0.60