AP2M1 - adaptor related protein complex 2 subunit mu 1 Gene

Homo sapiens

Also known as mu2; AP50; MRD60; CLAPM1

Gene ID: 1173 | Gene type: protein coding

About AP2M1

Cytogenetic location: 3q27.1 Genomic coordinates (GRCh38): 3:184,174,855-184,184,091 (from NCBI)

This gene has 34 transcripts (splice variants), 241 orthologues, 7 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 196.0), adrenal (RPKM 156.4) and 25 other tissues.

Summary

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 proton pumping occurring in the acidification of endosomes and lysosomes. The encoded protein may also play an important role in regulating the intracellular trafficking and function of CTLA-4 protein. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]

AP2M1 Products(3)

mRNA	Protein	Name
NM_001025205.2	NP_001020376.1	AP-2 complex subunit mu isoform b
NM_001311198.2	NP_001298127.1	AP-2 complex subunit mu isoform c
NM_004068.4	NP_004059.2	AP-2 complex subunit mu isoform a

AP2M1 Protein Structure

Clat_adaptor_s

Adap_comp_sub

0
100
200
300
400
435 a.a.

Protein Preferred Names

Protein Names

AP-2 complex subunit mu

AP-2 mu 2 chain

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures

Intellectual Developmental Disorder 60 With Seizures	MRD60
Mental Retardation, Autosomal Dominant 60, With Seizures

Epilepsy With Myoclonic-Atonic Seizures

Myoclonic Astatic Epilepsy	Doose Syndrome
Epilepsy With Myoclonic-Astatic Seizures	Epilepsy With Myoclono-Astatic Crisis
Myoclonic-Astatic Epilepsy	Emas
Mae	Myoclonic Atonic Epilepsy
Myoclonic-Astatic Epilepsy In Early Childhood

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Hypocalciuric Hypercalcemia, Familial, Type Iii

HHC3	Familial Hypocalciuric Hypercalcemia 3
Fbh3	Familial Hypocalciuric Hypercalcemia Type 3
Hypercalcemia, Familial Benign, Oklahoma Type	Hypocalciuric Hypercalcemia, Type Iii
Fhh Type 3	Hypocalciuric Hypercalcemia Type Iii
Familial Benign Hypercalcemia, Type Iii	Hypercalcemia, Familial Benign, Type Iii
Fbhok	Familial Benign Hypercalcemia, Oklahoma Variant
Familial Benign Hypercalcemia, Type 3	Hypercalcemia, Familial Benign, Type 3
Hypocalciuric Hypercalcemia, Familial, Type 3	Hypocalciuric Hypercalcemia, Familial 3
Familial Benign Hypercalcemia 3	Familial Benign Hypercalcemia Oklahoma Type
Familial Benign Hypocalciuric Hypercalcemia 3	Fbhh3
Fhh3

Brachydactyly, Type D

Brachydactyly Type D	BDD
Stub Thumb	Brachydactyly D

Dyslexia

Hemolytic Uremic Syndrome, Atypical 1

Atypical Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome, Atypical, Susceptibility To
Ahus	AHUS1
Hemolytic-Uremic Syndrome	Ahus 1
Ahus, Susceptibility To, 1	Hemolytic Uremic Syndrome, Atypical
Non-Shiga-Like Toxin-Associated Hus	Non-Stx-Hus
Nonenteropathic Hus	Atypical Hus
Shiga Toxin-Associated Hemolytic Uremic Syndrome	D+ Hus
Ehec-Hus	Hemolytic Uremic Syndrome Associated With Shiga Toxin-Producing Escherichia Coli
Hemolytic Uremic Syndrome With Diarrhea	Stec-Hus
Shiga-Like Toxin-Associated Hus	Stx-Hus
Typical Hus	Typical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome With Anti-Factor H Antibodies	Atypical Hus With Anti-Factor H Antibodies
Ahus With Anti-Factor H Antibodies	Ahus With Neutralizing Autoantibodies Against Factor H
Hemolytic Uremic Syndrome Atypical 1	Atypical Hemolytic Uremic Syndrome With H Factor Anomaly
D Hus	Hemolytic-Uremic Syndrome Without Diarrhea
Hemolytic-Uremic Syndrome, Atypical, Type 1	Hemolytic Uremic Syndrome, Typical

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-161261	SARS-CoV-2-IN-81	Inhibitor	/	Unkown
HY-RS00787	AP2M1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	AP2M1	MGD	MGI:1298405
Felis catus	AP2M1	VGNC	VGNC:67726
Canis familiaris	AP2M1	VGNC	VGNC:37961
Rattus norvegicus	AP2M1	RGD	RGD:620135
Macaca mulatta	AP2M1	VGNC	VGNC:69965
Bos taurus	AP2M1	VGNC	VGNC:25985

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