Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10053
Gene name	Adaptor related protein complex 1 subunit mu 2
Gene symbol	AP1M2
Synonyms (NCBI Gene)	AP1-mu2HSMU1BMU-1BMU1Bmu2
Chromosome	19
Chromosome location	19p13.2
Summary	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 re

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miRTarBase ID	miRNA	Experiments	Reference
MIRT002715	hsa-miR-124-3p	Microarray	15685193
MIRT002715	hsa-miR-124-3p	Microarray	18668037
MIRT002715	hsa-miR-124-3p	Microarray	15685193
MIRT787178	hsa-miR-1252	CLIP-seq
MIRT787179	hsa-miR-1285	CLIP-seq
MIRT787180	hsa-miR-2110	CLIP-seq
MIRT787181	hsa-miR-24	CLIP-seq
MIRT787182	hsa-miR-3153	CLIP-seq
MIRT787183	hsa-miR-3173-3p	CLIP-seq
MIRT787184	hsa-miR-3184	CLIP-seq
MIRT787185	hsa-miR-3187-5p	CLIP-seq
MIRT787186	hsa-miR-326	CLIP-seq
MIRT787187	hsa-miR-330-5p	CLIP-seq
MIRT787188	hsa-miR-3611	CLIP-seq
MIRT787189	hsa-miR-3649	CLIP-seq
MIRT787190	hsa-miR-378g	CLIP-seq
MIRT787191	hsa-miR-423-5p	CLIP-seq
MIRT787192	hsa-miR-4257	CLIP-seq
MIRT787193	hsa-miR-4271	CLIP-seq
MIRT787194	hsa-miR-4437	CLIP-seq
MIRT787195	hsa-miR-4486	CLIP-seq
MIRT787196	hsa-miR-4525	CLIP-seq
MIRT787197	hsa-miR-4640-5p	CLIP-seq
MIRT787198	hsa-miR-4649-5p	CLIP-seq
MIRT787199	hsa-miR-4668-3p	CLIP-seq
MIRT787200	hsa-miR-4674	CLIP-seq
MIRT787201	hsa-miR-4716-3p	CLIP-seq
MIRT787202	hsa-miR-4725-3p	CLIP-seq
MIRT787203	hsa-miR-4726-5p	CLIP-seq
MIRT787204	hsa-miR-4779	CLIP-seq
MIRT787205	hsa-miR-612	CLIP-seq
MIRT787204	hsa-miR-4779	CLIP-seq
MIRT2172572	hsa-miR-124	CLIP-seq
MIRT787178	hsa-miR-1252	CLIP-seq
MIRT787179	hsa-miR-1285	CLIP-seq
MIRT2172573	hsa-miR-151-5p	CLIP-seq
MIRT2172574	hsa-miR-151b	CLIP-seq
MIRT787180	hsa-miR-2110	CLIP-seq
MIRT787181	hsa-miR-24	CLIP-seq
MIRT787182	hsa-miR-3153	CLIP-seq
MIRT2172575	hsa-miR-3163	CLIP-seq
MIRT787183	hsa-miR-3173-3p	CLIP-seq
MIRT787184	hsa-miR-3184	CLIP-seq
MIRT787185	hsa-miR-3187-5p	CLIP-seq
MIRT787186	hsa-miR-326	CLIP-seq
MIRT787187	hsa-miR-330-5p	CLIP-seq
MIRT787188	hsa-miR-3611	CLIP-seq
MIRT787189	hsa-miR-3649	CLIP-seq
MIRT787190	hsa-miR-378g	CLIP-seq
MIRT787191	hsa-miR-423-5p	CLIP-seq
MIRT787192	hsa-miR-4257	CLIP-seq
MIRT787193	hsa-miR-4271	CLIP-seq
MIRT2172576	hsa-miR-4290	CLIP-seq
MIRT787194	hsa-miR-4437	CLIP-seq
MIRT2172577	hsa-miR-4469	CLIP-seq
MIRT787195	hsa-miR-4486	CLIP-seq
MIRT787196	hsa-miR-4525	CLIP-seq
MIRT787197	hsa-miR-4640-5p	CLIP-seq
MIRT2172578	hsa-miR-4659a-3p	CLIP-seq
MIRT2172579	hsa-miR-4659b-3p	CLIP-seq
MIRT787199	hsa-miR-4668-3p	CLIP-seq
MIRT787200	hsa-miR-4674	CLIP-seq
MIRT2172580	hsa-miR-4696	CLIP-seq
MIRT787201	hsa-miR-4716-3p	CLIP-seq
MIRT787202	hsa-miR-4725-3p	CLIP-seq
MIRT787203	hsa-miR-4726-5p	CLIP-seq
MIRT787204	hsa-miR-4779	CLIP-seq
MIRT2172581	hsa-miR-506	CLIP-seq
MIRT787205	hsa-miR-612	CLIP-seq
MIRT2172582	hsa-miR-642a	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0005515	Function	Protein binding	IPI	16189514, 25416956, 33961781
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006605	Process	Protein targeting	TAS	10338135
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006903	Process	Vesicle targeting	TAS	10338135
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IBA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0016192	Process	Vesicle-mediated transport	NAS	27057418
GO:0030121	Component	AP-1 adaptor complex	NAS	27057418
GO:0030131	Component	Clathrin adaptor complex	IEA
GO:0030136	Component	Clathrin-coated vesicle	IBA
GO:0030659	Component	Cytoplasmic vesicle membrane	TAS
GO:0030665	Component	Clathrin-coated vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032588	Component	Trans-Golgi network membrane	IEA
GO:0032588	Component	Trans-Golgi network membrane	NAS	27057418
GO:0032588	Component	Trans-Golgi network membrane	TAS
GO:0035615	Function	Clathrin adaptor activity	IBA
GO:0045184	Process	Establishment of protein localization	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0110010	Process	Basolateral protein secretion	NAS	27057418

MIM	HGNC	e!Ensembl
607309	558	ENSG00000129354

Q9Y6Q5

Protein name

AP-1 complex subunit mu-2 (AP-mu chain family member mu1B) (Adaptor protein complex AP-1 subunit mu-2) (Adaptor-related protein complex 1 subunit mu-2) (Clathrin assembly protein complex 1 mu-2 medium chain 2) (Golgi adaptor HA1/AP1 adaptin mu-2 subunit)

Protein 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 signal

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01217	Clat_adaptor_s	2 → 142	Clathrin adaptor complex small chain	Domain
PF00928	Adap_comp_sub	157 → 422	Adaptor complexes medium subunit family	Family

Sequence

MSASAVFILDVKGKPLISRNYKGDVAMSKIEHFMPLLVQREEEGALAPLLSHGQVHFLWI
KHSNLYLVATTSKNANASLVYSFLYKTIEVFCEYFKELEEESIRDNFVIVYELLDELMDF
GFPQTTDSKILQEYITQQSNKLETGKSRVPPTVTNAVSWRSEGIKYKKNEVFIDVIESVN
LLVNANGSVLLSEIVGTIKLKVFLSGMPELRLGLNDRVLFELTGRSKNKSVELEDVKFHQ
CVRLSRFDNDRTISFIPPDGDFELMSYRLSTQVKPLIWIESVIEKFSHSRVEIMVKAKGQ
FKKQSVANGVEISVPVPSDADSPRFKTSVGSAKYVPERNVVIWSIKSFPGGKEYLMRAHF
GLPSVEKEEVEGRPPIGVKFEIPYFTVSGIQVRYMKIIEKSGYQALPWVRYITQSGDYQL
RTS

Sequence length

423

Interactions

View interactions

	KEGG		Reactome
	Lysosome Human immunodeficiency virus 1 infection		Nef mediated downregulation of MHC class I complex cell surface expression MHC class II antigen presentation Lysosome Vesicle Biogenesis Golgi Associated Vesicle Biogenesis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ENDOMETRIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Coronary Artery Disease	Associate	26908601	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Associate	32438712	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oncocytoma renal	Associate	31998788	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Associate	34321959	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stroke	Associate	26908601	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombosis	Associate	26908601	★★★★★ ★☆☆☆☆ Found in Text Mining only

AP1M2 (adaptor related protein complex 1 subunit mu 2)