Aliases for AP1M2 Gene
Aliases for AP1M2 Gene
- Adaptor Related Protein Complex 1 Mu 2 Subunit 2 3 5
- Clathrin Assembly Protein Complex 1 Mu-2 Medium Chain 2 3 4
- Golgi Adaptor HA1/AP1 Adaptin Mu-2 Subunit 3 4
- AP-Mu Chain Family Member Mu1B 3 4
- Mu-Adaptin 2 3 4
- Mu1B-Adaptin 3 4
- Adaptor-Related Protein Complex 1, Mu 2 Subunit 2
- 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
External Ids for AP1M2 Gene
- HGNC: 558
- Entrez Gene: 10053
- Ensembl: ENSG00000129354
- OMIM: 607309
- UniProtKB: Q9Y6Q5
Previous GeneCards Identifiers for AP1M2 Gene
- GC19M010814
- GC19M010906
- GC19M010528
- GC19M010544
- GC19M010683
- GC19M010261
Summaries 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 Mu 2 Subunit) is a Protein Coding gene. Diseases associated with AP1M2 include Pain Agnosia and Agnosia. Among its related pathways are Clathrin derived vesicle budding and Innate Immune System. An important paralog of this gene is AP1M1.
UniProtKB/Swiss-Prot 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.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AP1M2 Gene
Genomics for AP1M2 Gene
GeneHancer (GH) Regulatory Elements for AP1M2 Gene
Promoters and enhancers for AP1M2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around AP1M2 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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)
Genomic View for AP1M2 Gene
Genes around AP1M2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19p13.2 by Ensembl
- 19p13.2 by Entrez Gene
- 19p13.2 by HGNC
AP1M2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for AP1M2 Gene
Proteins for AP1M2 Gene
-
Protein details for AP1M2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9Y6Q5-AP1M2_HUMAN
- Recommended name:
- AP-1 complex subunit mu-2
- Protein Accession:
- Q9Y6Q5
- 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).
Protein Expression for AP1M2 Gene
Post-translational modifications for AP1M2 Gene
- Phosphorylation of membrane-bound AP1M1/AP1M2 increases its affinity for sorting signals.
Other Protein References for AP1M2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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-
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Protein Products
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Quality Products:
No data available for DME Specific Peptides for AP1M2 Gene
Domains & Families for AP1M2 Gene
Gene Families for AP1M2 Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for AP1M2 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for AP1M2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9Y6Q5- Family:
-
- Belongs to the adaptor complexes medium subunit family.
Function for AP1M2 Gene
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 16189514 |
Phenotypes for AP1M2 Gene
- MGI mutant phenotypes for AP1M2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for AP1M2:
-
- Increased vaccinia virus (VACV) infection
- Decreased hepcidin::fluc mRNA expression
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Decreased ionizing radiation sensitivity
- Dynamic nuclei (hole, folded or small irregular)
- Increased G1 DNA content
- Decreased viability of wild-type and TP53 knockout cells
Animal Models for AP1M2 Gene
- MGI Knock Outs for AP1M2:
-
- Ap1m2 tm1.1Ohno
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miRNA for AP1M2 Gene
- miRTarBase miRNAs that target AP1M2
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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.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| lysosome | 5 |
| golgi apparatus | 5 |
| plasma membrane | 2 |
| nucleus | 2 |
| endosome | 2 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
- Vesicles (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | TAS | -- |
| GO:0005765 | lysosomal membrane | TAS | -- |
| GO:0005794 | Golgi apparatus | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for AP1M2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Clathrin derived vesicle budding | ||
| 2 | HIV Life Cycle |
.65
|
.45
|
| 3 | Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters | ||
| 4 | Vesicle-mediated transport | ||
| 5 | Lysosome |
-
|
|
Pathways by source for AP1M2 Gene
16 Reactome pathways for AP1M2 Gene
1 KEGG pathway for AP1M2 Gene
1 GeneGo (Thomson Reuters) pathway for AP1M2 Gene
1 Qiagen pathway for AP1M2 Gene
Interacting Proteins for AP1M2 Gene
Selected Interacting proteins:
ENSP00000250244
Q9Y6Q5-AP1M2_HUMAN
for AP1M2 Gene via
STRING
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006605 | protein targeting | TAS | 10338135 |
| GO:0006810 | transport | IEA | -- |
| GO:0006886 | intracellular protein transport | IEA | -- |
| GO:0006903 | vesicle targeting | TAS | 10338135 |
| GO:0015031 | protein transport | IEA | -- |
No data available for SIGNOR curated interactions for AP1M2 Gene
Transcripts for AP1M2 Gene
mRNA/cDNA for AP1M2 Gene
- (2) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (220) Selected AceView cDNA sequences:
- (10) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for AP1M2 Gene
CRISPR Products
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OriGene CRISPR knockouts for AP1M2
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Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for AP1M2
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miRNA Products
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Inhibitory RNA Products
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | · | 12c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||||||||
| SP4: | - |
Expression for AP1M2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Gut Tube (Gastrointestinal Tract)
-
Skeletal Muscle (Muscoskeletal System)
- Muscle Progenitor Cells Mandibular Arch Muscles
- Muscle Progenitor Cells Hyoid Arch Muscles
- Kidney (Urinary System)
-
Tooth (Integumentary System)
- Dental Placode Cells Dental Placode
-
Epithelial Cells
- Dental Placode Cells Dental Placode
- Brain (Nervous System)
- Lung (Respiratory System)
- NULL (Uncategorized)
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).
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, PaxDb, MaxQB, and MOPED for AP1M2 Gene
NURSA nuclear receptor signaling pathways regulating expression of AP1M2 Gene:
AP1M2SOURCE GeneReport for Unigene cluster for AP1M2 Gene:
Hs.18894Evidence on tissue expression from TISSUES for AP1M2 Gene
- Intestine(4.7)
- Kidney(2.5)
- Nervous system(2.4)
- Blood(2.2)
Primer Products
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-
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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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | AP1M2 33 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | AP1M2 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | AP1M2 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | AP1M2 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | AP1M2 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Ap1m2 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Ap1m2 33 16 34 |
|
||
| chicken (Gallus gallus) |
Aves | AP1M2 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | AP1M2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ap1m2 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | ap1m2 33 34 |
|
||
| Dr.20705 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9527 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | AP-47 35 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | unc-101 35 34 |
|
||
| apm-1 35 33 34 |
|
||||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | APM1 34 |
|
OneToMany | |
| APM2 36 |
|
|
|||
| soybean (Glycine max) |
eudicotyledons | Gma.3839 33 |
|
||
| Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.10081 33 |
|
||
| barley (Hordeum vulgare) |
Liliopsida | Hv.6301 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os.38379 33 |
|
||
| wheat (Triticum aestivum) |
Liliopsida | Ta.8549 33 |
|
||
| corn (Zea mays) |
Liliopsida | Zm.14288 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.2288 34 |
|
OneToMany |
- Species where no ortholog for AP1M2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 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)
Paralogs for AP1M2 Gene
(6) SIMAP similar genes for AP1M2 Gene using alignment to 8 proteins:
Pseudogenes.org Pseudogenes for AP1M2 Gene
Variants for AP1M2 Gene
| SNP ID | Clin | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000058904 | -- | 10,588,020(-) | C/A | upstream_transcript_variant | |
| rs1000243575 | -- | 10,580,925(-) | A/G | intron_variant | |
| rs1000399459 | -- | 10,582,844(-) | G/T | intron_variant | |
| rs1000494719 | -- | 10,583,373(-) | C/T | intron_variant | |
| rs1000515106 | -- | 10,588,421(-) | C/G | upstream_transcript_variant |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AP1M2 Gene
Disorders for AP1M2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| pain agnosia |
|
|
| agnosia |
|
|
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
No data available for UniProtKB/Swiss-Prot and Genatlas for AP1M2 Gene
Publications for AP1M2 Gene
- Mu1B, a novel adaptor medium chain expressed in polarized epithelial cells. (PMID: 10338135) Ohno H … Bonifacino JS (FEBS letters 1999) 2 3 4 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- 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 58
- 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 22 58
- Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
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Sources for AP1M2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
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