AP1M2 Gene (Protein Coding)

Adaptor Related Protein Complex 1 Subunit Mu 2

GC19M010572
GIFtS:
40
This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 1 (AP-1), which belongs to the adaptor complexes medium subunits family. This protein is capable of interacting with tyrosine-based sorting signals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] See more...

Aliases for AP1M2 Gene

Aliases for AP1M2 Gene

  • Adaptor Related Protein Complex 1 Subunit Mu 2 2 3 5
  • Clathrin Assembly Protein Complex 1 Mu-2 Medium Chain 2 3 4
  • Adaptor Related Protein Complex 1 Mu 2 Subunit 2 3
  • Golgi Adaptor HA1/AP1 Adaptin Mu-2 Subunit 3 4
  • AP-Mu Chain Family Member Mu1B 3 4
  • AP-1 Complex Subunit Mu-2 3 4
  • Mu-Adaptin 2 3 4
  • Mu1B-Adaptin 3 4
  • AP1-Mu2 2 3
  • HSMU1B 2 3
  • Mu2 2 3
  • Adaptor-Related Protein Complex 1, Mu 2 Subunit 2
  • Adaptor-Related Protein Complex 1 Subunit Mu-2 4
  • Clathrin-Associated Adaptor Medium Chain Mu2 3
  • Adaptor Protein Complex AP-1 Mu-2 Subunit 3
  • Adaptor Protein Complex AP-1 Subunit Mu-2 4
  • Clathrin Coat Associated Protein AP47 2 3
  • Clathrin Coat Assembly Protein AP47 2 3
  • Golgi Adaptor AP-1 47 KDa Protein 3
  • HA1 47 KDa Subunit 2 3
  • MU-1B 3
  • AP1M2 5
  • MU1B 3

External Ids for AP1M2 Gene

Previous GeneCards Identifiers for AP1M2 Gene

  • GC19M010814
  • GC19M010906
  • GC19M010528
  • GC19M010544
  • GC19M010683
  • GC19M010261

Summaries for AP1M2 Gene

Entrez Gene Summary for AP1M2 Gene

  • This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 1 (AP-1), which belongs to the adaptor complexes medium subunits family. This protein is capable of interacting with tyrosine-based sorting signals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

GeneCards Summary for AP1M2 Gene

AP1M2 (Adaptor Related Protein Complex 1 Subunit Mu 2) is a Protein Coding gene. Diseases associated with AP1M2 include Pettigrew Syndrome and Chromophobe Renal Cell Carcinoma. Among its related pathways are Lysosome and Clathrin derived vesicle budding. An important paralog of this gene is AP1M1.

UniProtKB/Swiss-Prot Summary for AP1M2 Gene

  • Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the trans-Golgi network (TGN) and endosomes. The AP complexes mediate the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules.

Gene Wiki entry for AP1M2 Gene

Additional gene information for AP1M2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AP1M2 Gene

Genomics for AP1M2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for AP1M2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH19J010586 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 600.7 +0.2 168 1.5 ATF7 YBX1 KDM1A ZHX2 MTA2 ZNF24 EZH2 CTBP1 ZEB1 ZNF444 AP1M2 SLC44A2 KRI1 ILF3-DT LOC100419831 MF281430-039 CDKN2D lnc-TIMM29-1
GH19J010543 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.1 +42.9 42864 2.6 ZBTB33 IKZF1 KDM1A POLR2A RCOR2 BACH1 LARP7 MTA2 ZIC2 RBFOX2 ATG4D KRI1 ILF3 ZNF562 LOC100419831 ZNF121 FBXL12 RAVER1 ZNF561 PRKCSH
GH19J010615 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 12.4 -30.0 -29971 4.1 ARHGAP35 LEF1 IKZF1 KDM1A JUND DDX20 RFX1 PKNOX1 MTA1 REST SLC44A2 KRI1 ILF3 TIMM29 PPAN ZNF627 ZNF561 AP1M2 FBXL12 ILF3-DT
GH19J010576 Promoter/Enhancer 1 Ensembl ENCODE 14 +10.2 10207 1.8 GATAD2A PRDM10 SP1 EGR1 ZNF316 FOXA2 JUN MAFK TEAD1 JUND KRI1 CDKN2D AP1M2 SLC44A2 RGL3 MF281430-039 lnc-TIMM29-1
GH19J010601 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 5.1 -16.7 -16742 4.5 ZNF629 IKZF1 KDM1A ZNF692 BACH1 LARP7 MTA2 ZNF143 ZIC2 POLR2A SLC44A2 CDKN2D KRI1 ICAM3 ILF3 ZNF627 PRKCSH TYK2 DNM2 S1PR5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AP1M2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AP1M2

Top Transcription factor binding sites by QIAGEN in the AP1M2 gene promoter:
  • CBF(2)
  • CBF-A
  • CBF-B
  • CP1A
  • Ik-2
  • NF-Y
  • NF-YA
  • NF-YB
  • p53

Genomic Locations for AP1M2 Gene

Genomic Locations for AP1M2 Gene
chr19:10,572,671-10,587,315
(GRCh38/hg38)
Size:
14,645 bases
Orientation:
Minus strand
chr19:10,683,347-10,697,991
(GRCh37/hg19)
Size:
14,645 bases
Orientation:
Minus strand

Genomic View for AP1M2 Gene

Genes around AP1M2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AP1M2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AP1M2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for AP1M2 Gene

Proteins for AP1M2 Gene

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  • Protein details for AP1M2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6Q5-AP1M2_HUMAN
    Recommended name:
    AP-1 complex subunit mu-2
    Protein Accession:
    Q9Y6Q5
    Secondary Accessions:
    • B2RDV5
    • Q9BSI8

    Protein attributes for AP1M2 Gene

    Size:
    423 amino acids
    Molecular mass:
    48108 Da
    Quaternary structure:
    • Adaptor protein complex 1 (AP-1) is a heterotetramer composed of two large adaptins (gamma-type subunit AP1G1 and beta-type subunit AP1B1), a medium adaptin (mu-type subunit AP1M1 or AP1M2) and a small adaptin (sigma-type subunit AP1S1 or AP1S2 or AP1S3).

    Alternative splice isoforms for AP1M2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AP1M2 Gene

Protein Expression for AP1M2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for AP1M2 Gene

  • Phosphorylation of membrane-bound AP1M1/AP1M2 increases its affinity for sorting signals.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AP1M2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AP1M2 Gene

Domains & Families for AP1M2 Gene

Gene Families for AP1M2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for AP1M2 Gene

InterPro:
Blocks:
  • Clathrin adaptor complex, medium chain
ProtoNet:

Suggested Antigen Peptide Sequences for AP1M2 Gene

GenScript: Design optimal peptide antigens:
  • Mu1B-adaptin (AP1M2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y6Q5

UniProtKB/Swiss-Prot:

AP1M2_HUMAN :
  • Belongs to the adaptor complexes medium subunit family.
Family:
  • Belongs to the adaptor complexes medium subunit family.
genes like me logo Genes that share domains with AP1M2: view

Function for AP1M2 Gene

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Molecular function for AP1M2 Gene

UniProtKB/Swiss-Prot Function:
Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the trans-Golgi network (TGN) and endosomes. The AP complexes mediate the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules.

Phenotypes From GWAS Catalog for AP1M2 Gene

Gene Ontology (GO) - Molecular Function for AP1M2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0035615 clathrin adaptor activity IBA 21873635
genes like me logo Genes that share ontologies with AP1M2: view
genes like me logo Genes that share phenotypes with AP1M2: view

Animal Models for AP1M2 Gene

MGI Knock Outs for AP1M2:

Animal Model Products

CRISPR Products

miRNA for AP1M2 Gene

miRTarBase miRNAs that target AP1M2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AP1M2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AP1M2 Gene

Localization for AP1M2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AP1M2 Gene

Golgi apparatus. Cytoplasmic vesicle, clathrin-coated vesicle membrane. Peripheral membrane protein. Cytoplasmic side. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AP1M2 gene
Compartment Confidence
cytosol 5
golgi apparatus 5
lysosome 4
plasma membrane 2
endoplasmic reticulum 2
endosome 2
extracellular 1
cytoskeleton 1
nucleus 1
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AP1M2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005623 cell IEA --
GO:0005765 lysosomal membrane TAS --
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with AP1M2: view

Pathways & Interactions for AP1M2 Gene

genes like me logo Genes that share pathways with AP1M2: view

Pathways by source for AP1M2 Gene

2 KEGG pathways for AP1M2 Gene
1 GeneGo (Thomson Reuters) pathway for AP1M2 Gene
  • Transport Clathrin-coated vesicle cycle
1 Qiagen pathway for AP1M2 Gene
  • CTLA4 Signaling

Gene Ontology (GO) - Biological Process for AP1M2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006605 protein targeting TAS 10338135
GO:0006886 intracellular protein transport IEA --
GO:0006903 vesicle targeting TAS 10338135
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IEA,IBA 21873635
genes like me logo Genes that share ontologies with AP1M2: view

No data available for SIGNOR curated interactions for AP1M2 Gene

Drugs & Compounds for AP1M2 Gene

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  1. Drug
No Compound Related Data Available

Transcripts for AP1M2 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for AP1M2 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AP1M2

Alternative Splicing Database (ASD) splice patterns (SP) for AP1M2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b · 12c
SP1:
SP2:
SP3:
SP4: -

Relevant External Links for AP1M2 Gene

GeneLoc Exon Structure for
AP1M2

Expression for AP1M2 Gene

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  1. Primer
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AP1M2 Gene

mRNA expression in normal human tissues for AP1M2 Gene
mRNA expression by GTEx for AP1M2 GenemRNA expression by BioGPS for AP1M2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AP1M2 Gene

This gene is overexpressed in Colon - Transverse (x5.8), Esophagus - Mucosa (x4.5), Kidney - Cortex (x4.2), and Pancreas (x4.1).

Protein differential expression in normal tissues from HIPED for AP1M2 Gene

This gene is overexpressed in Salivary gland (12.8), Nasal epithelium (12.5), Skin (11.1), Stomach (7.6), and Cervix (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AP1M2 Gene



Protein tissue co-expression partners for AP1M2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AP1M2

SOURCE GeneReport for Unigene cluster for AP1M2 Gene:

Hs.18894

Evidence on tissue expression from TISSUES for AP1M2 Gene

  • Intestine(4.7)
  • Kidney(2.9)
  • Thyroid gland(2.3)
  • Skin(2.1)
  • Nervous system(2.1)
  • Lung(2)
  • Liver(2)
genes like me logo Genes that share expression patterns with AP1M2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for AP1M2 Gene

Orthologs for AP1M2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AP1M2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia AP1M2 30 31
  • 99.68 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia AP1M2 31
  • 95 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia AP1M2 31
  • 92 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia AP1M2 30 31
  • 90.78 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia AP1M2 30 31
  • 90.61 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Ap1m2 30
  • 87.94 (n)
Mouse
(Mus musculus)
 Mammalia Ap1m2 30 17 31
  • 87 (n)
 OneToOne
Chicken
(Gallus gallus)
 Aves AP1M2 31
  • 69 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia AP1M2 31
  • 78 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia ap1m2 30
  • 78.25 (n)
Zebrafish
(Danio rerio)
 Actinopterygii ap1m2 30 31
  • 77.3 (n)
 OneToOne
Dr.20705 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.9527 30
Fruit Fly
(Drosophila melanogaster)
 Insecta AP-47 31 32
  • 75 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea unc-101 31 32
  • 70 (a)
 ManyToMany
apm-1 30 31 32
  • 60.25 (n)
 ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes APM1 31
  • 49 (a)
 OneToMany
APM2 33
Alicante grape
(Vitis vinifera)
 eudicotyledons Vvi.10081 30
Soybean
(Glycine max)
 eudicotyledons Gma.3839 30
Barley
(Hordeum vulgare)
 Liliopsida Hv.6301 30
Rice
(Oryza sativa)
 Liliopsida Os.38379 30
Wheat
(Triticum aestivum)
 Liliopsida Ta.8549 30
Corn
(Zea mays)
 Liliopsida Zm.14288 30
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.2288 31
  • 72 (a)
 OneToMany
Species where no ortholog for AP1M2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for AP1M2 Gene

ENSEMBL:
Gene Tree for AP1M2 (if available)
TreeFam:
Gene Tree for AP1M2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AP1M2: view image

Paralogs for AP1M2 Gene

Paralogs for AP1M2 Gene

(6) SIMAP similar genes for AP1M2 Gene using alignment to 8 proteins:

  • AP1M2_HUMAN
  • K7EJJ1_HUMAN
  • K7EK69_HUMAN
  • K7EL08_HUMAN
  • K7EMG5_HUMAN
  • K7EPI9_HUMAN
  • K7EPR4_HUMAN
  • K7ERH5_HUMAN

Pseudogenes.org Pseudogenes for AP1M2 Gene

genes like me logo Genes that share paralogs with AP1M2: view

Variants for AP1M2 Gene

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Additional dbSNP identifiers (rs#s) for AP1M2 Gene

Structural Variations from Database of Genomic Variants (DGV) for AP1M2 Gene

Variant ID Type Subtype PubMed ID
nsv833744 CNV loss 17160897
nsv833745 CNV loss 17160897

Variation tolerance for AP1M2 Gene

Residual Variation Intolerance Score: 48.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.44; 28.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AP1M2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AP1M2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AP1M2 Gene

Disorders for AP1M2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for AP1M2 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search AP1M2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AP1M2

Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with AP1M2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AP1M2 Gene

Publications for AP1M2 Gene

  1. Mu1B, a novel adaptor medium chain expressed in polarized epithelial cells. (PMID: 10338135) Ohno H … Bonifacino JS (FEBS letters 1999) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Genomic structure and chromosome mapping of the genes encoding clathrin-associated adaptor medium chains mu1A (Ap1m1) and mu1B (Ap1m2). (PMID: 10640811) Nakatsu F … Ohno H (Cytogenetics and cell genetics 1999) 3 23
  5. Loss of ER retention motif of AGR2 can impact mTORC signaling and promote cancer metastasis. (PMID: 30575818) Tiemann K … Kani K (Oncogene 2019) 3

ExternalLinks

View latest publications for AP1M2 gene in Mastermind

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