Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1173
Gene name Gene Name - the full gene name approved by the HGNC.
Adaptor related protein complex 2 subunit mu 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AP2M1
Synonyms (NCBI Gene) Gene synonyms aliases
AP50, CLAPM1, MRD60, mu2
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q27.1
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1577059692 C>T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT003232 hsa-miR-224-5p Luciferase reporter assay 20065103
MIRT025242 hsa-miR-34a-5p Proteomics 21566225
MIRT025242 hsa-miR-34a-5p Proteomics 21566225
MIRT031416 hsa-miR-16-5p Proteomics 18668040
MIRT046490 hsa-miR-15b-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002092 Process Positive regulation of receptor internalization IEA
GO:0005048 Function Signal sequence binding IDA 8918456, 9171339
GO:0005048 Function Signal sequence binding IEA
GO:0005515 Function Protein binding IPI 12032142, 16189514, 19419997, 20029029, 21653829, 22916011, 23676497, 24189400, 24603492, 30021884, 31515488, 31980649, 32296183, 33436498, 33961781, 34799561, 34964704, 35271311, 35384245, 37100772, 37219487, 39251607
GO:0005765 Component Lysosomal membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601024 564 ENSG00000161203
Protein
UniProt ID Q96CW1
Protein 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
Protein function Component of the adaptor protein complex 2 (AP-2) (PubMed:12694563, PubMed:12952941, PubMed:14745134, PubMed:14985334, PubMed:15473838, PubMed:31104773). Adaptor protein complexes function in protein transport via transport vesicles in different
PDB 1H6E , 6BNT , 6URI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01217 Clat_adaptor_s 1 137 Clathrin adaptor complex small chain Domain
PF00928 Adap_comp_sub 159 435 Adaptor complexes medium subunit family Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the brain (at protein level). {ECO:0000269|PubMed:23676497}.
Sequence
Sequence length 435
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Endocytosis
Synaptic vesicle cycle
Endocrine and other factor-regulated calcium reabsorption
Huntington disease
  Nef mediated downregulation of CD28 cell surface expression
Nef Mediated CD4 Down-regulation
Retrograde neurotrophin signalling
Nef Mediated CD8 Down-regulation
Gap junction degradation
Formation of annular gap junctions
MHC class II antigen presentation
EPH-ephrin mediated repulsion of cells
Trafficking of GluR2-containing AMPA receptors
Recycling pathway of L1
WNT5A-dependent internalization of FZD4
WNT5A-dependent internalization of FZD2, FZD5 and ROR2
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
VLDLR internalisation and degradation
LDL clearance
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Myoclonic-Astatic Epilepsy myoclonic-astatic epilepsy N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Colorectal Neoplasms Associate 36510452
Mast Cell Activation Disorders Associate 35610596
Squamous Cell Carcinoma of Head and Neck Associate 35610596