• Gene id: 1173

Gene Summary

• Gene Symbol: AP2M1   Gene   UCSC   Ensembl
• Aliases: AP50, CLAPM1, MRD60, mu2
• Gene name: adaptor related protein complex 2 subunit mu 1
• Alternate names: AP-2 complex subunit mu, AP-2 mu 2 chain, HA2 50 kDA subunit, adaptin-mu2, adaptor protein complex AP-2 subunit mu, adaptor related protein complex 2 mu 1 subunit, adaptor-related protein complex 2 subunit mu, clathrin adaptor complex AP2, mu subunit, clathrin as,
• Gene location: 3q27.1 (184174845: 184184090)     Exons: 14     NC_000003.12
• Gene summary(Entrez): This gene encodes a subunit of the heterotetrameric coat assembly protein complex 2 (AP2), which belongs to the adaptor complexes medium subunits family. The encoded protein is required for the activity of a vacuolar ATPase, which is responsible for proto
• OMIM: 601024

Protein Summary

• Protein general information: Q96CW1  
  • Name: AP 2 complex subunit mu (AP 2 mu chain) (Adaptin mu2) (Adaptor protein complex AP 2 subunit mu) (Adaptor related protein complex 2 subunit mu) (Clathrin assembly protein complex 2 mu medium chain) (Clathrin coat assembly protein AP50) (Clathrin coat assoc
  • Length: 435  
  • Mass: 49655
  • Tissue specificity: Expressed in the brain (at protein level). {ECO
• Sequence:

  MIGGLFIYNHKGEVLISRVYRDDIGRNAVDAFRVNVIHARQQVRSPVTNIARTSFFHVKRSNIWLAAVTKQNVNA
  AMVFEFLYKMCDVMAAYFGKISEENIKNNFVLIYELLDEILDFGYPQNSETGALKTFITQQGIKSQHQTKEEQSQ
  ITSQVTGQIGWRREGIKYRRNELFLDVLESVNLLMSPQGQVLSAHVSGRVVMKSYLSGMPECKFGMNDKIVIEKQ
  GKGTADETSKSGKQSIAIDDCTFHQCVRLSKFDSERSISFIPPDGEFELMRYRTTKDIILPFRVIPLVREVGRTK
  LEVKVVIKSNFKPSLLAQKIEVRIPTPLNTSGVQVICMKGKAKYKASENAIVWKIKRMAGMKESQISAEIELLPT
  NDKKKWARPPISMNFEVPFAPSGLKVRYLKVFEPKLNYSDHDVIKWVRYIGRSGIYETRC

• Structural information:
  • Protein Domains: (170..43-)
    (/note="MHD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00404"-)
  • Interpro: IPR036168  IPR022775  IPR001392  IPR018240  IPR011012   IPR028565  
  • Prosite: PS00990 PS00991 PS51072
  • PDB: 1H6E 6BNT
  • PDBsum: 1H6E 6BNT
  • STRING: ENSP00000292807
• Other Databases: GeneCards:  AP2M1  Malacards:  AP2M1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006900	vesicle budding from membrane	IMP	biological process
GO:0097494	regulation of vesicle size	IMP	biological process
GO:0045334	clathrin-coated endocytic vesicle	NAS	cellular component
GO:0031623	receptor internalization	IMP	biological process
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0035615	clathrin adaptor activity	IBA	molecular function
GO:0031410	cytoplasmic vesicle	IBA	cellular component
GO:0030122	AP-2 adaptor complex	IBA	cellular component
GO:0016192	vesicle-mediated transport	IBA	biological process
GO:0072583	clathrin-dependent endocytosis	IBA	biological process
GO:0006897	endocytosis	IBA	biological process
GO:0005905	clathrin-coated pit	IDA	cellular component
GO:0072583	clathrin-dependent endocytosis	IDA	biological process
GO:0044325	ion channel binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0006886	intracellular protein transport	IEA	biological process
GO:0030131	clathrin adaptor complex	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS	biological process
GO:0030669	clathrin-coated endocytic vesicle membrane	TAS	cellular component
GO:0032802	low-density lipoprotein particle receptor catabolic process	TAS	biological process
GO:0034383	low-density lipoprotein particle clearance	TAS	biological process
GO:0050690	regulation of defense response to virus by virus	TAS	biological process
GO:0050690	regulation of defense response to virus by virus	TAS	biological process
GO:0050690	regulation of defense response to virus by virus	TAS	biological process
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	TAS	biological process
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0030666	endocytic vesicle membrane	TAS	cellular component
GO:0036020	endolysosome membrane	TAS	cellular component
GO:0036020	endolysosome membrane	TAS	cellular component
GO:0036020	endolysosome membrane	TAS	cellular component
GO:0036020	endolysosome membrane	TAS	cellular component
GO:0036020	endolysosome membrane	TAS	cellular component
GO:0048013	ephrin receptor signaling pathway	TAS	biological process
GO:0061024	membrane organization	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005048	signal sequence binding	IDA	molecular function
GO:0005048	signal sequence binding	IDA	molecular function
GO:0035615	clathrin adaptor activity	TAS	contributes to
GO:0050750	low-density lipoprotein particle receptor binding	ISS	molecular function
GO:0030122	AP-2 adaptor complex	TAS	cellular component
GO:0072583	clathrin-dependent endocytosis	TAS	biological process
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0034622	cellular protein-containing complex assembly	TAS	biological process
GO:0072583	clathrin-dependent endocytosis	IDA	biological process
GO:0030122	AP-2 adaptor complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:1903077	negative regulation of protein localization to plasma membrane	IMP	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05016	Huntington disease
hsa04144	Endocytosis
hsa04721	Synaptic vesicle cycle
hsa04961	Endocrine and other factor-regulated calcium reabsorption
P06959	CCKR signaling map
P06959	CCKR signaling map
P06959	CCKR signaling map
P06959	CCKR signaling map

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)