AP1M2 - adaptor related protein complex 1 subunit mu 2 Gene

Homo sapiens

Also known as mu2; MU1B; MU-1B; HSMU1B; AP1-mu2

Gene ID: 10053 | Gene type: protein coding

About AP1M2

Cytogenetic location: 19p13.2 Genomic coordinates (GRCh38): 19:10,572,671-10,587,312 (from NCBI)

This gene has 10 transcripts (splice variants), 196 orthologues and 7 paralogues. Broad expression in thyroid (RPKM 36.9), duodenum (RPKM 29.9) and 16 other tissues.

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 results in multiple transcript variants. [provided by RefSeq, Jul 2014]

AP1M2 Products(2)

mRNA	Protein	Name
NM_001300887.2	NP_001287816.1	AP-1 complex subunit mu-2 isoform 1
NM_005498.5	NP_005489.2	AP-1 complex subunit mu-2 isoform 2

AP1M2 Protein Structure

Clat_adaptor_s

Adap_comp_sub

0
100
200
300
400
423 a.a.

Protein Preferred Names

Protein Names

AP-1 complex subunit mu-2

AP-mu chain family member mu1B

Related Diseases

Diseases

Alias

Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma

Mednik Syndrome	Erythrokeratodermia Variabilis 3
MEDNIK	Ekv3
Erythrokeratodermia Variabilis, Kamouraska Type	Mental Retardation, Enteropathy, Deafness, Neuropathy, Ichthyosis, Keratodermia
Intellectual Disability-Enteropathy-Deafness-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome	Intellectual Disability-Enteropathy-Hearing Loss-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome
Intellectual Disability, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma	Erythrokeratodermia Variabilis Kamouraska Type
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, Keratoderma

Pettigrew Syndrome

PGS	Mrxs5
Mrx59	Mrxs21
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome	Mental Retardation, X-Linked, Syndromic 5
Mrxsf	Syndromic X-Linked Intellectual Disability 5
Fried Syndrome	Mental Retardation, X-Linked Syndromic 5
Mental Retardation, X-Linked, With Dandy-Walker Malformation, Basal Ganglia Disease, And Seizures	Mental Retardation, X-Linked, Syndromic, Fried Type
Mental Retardation, X-Linked, Syndromic 21	Syndromic X-Linked Mental Retardation 21
Syndromic X-Linked Mental Retardation Fried Type	X-Linked Metal Retardation With Dandy-Walker Malformation, Basal Ganglia Disease, And Seizures
Dandy-Walker Malformation With Intellectual Disability, Basal Ganglia Disease An	Dandy-Walker Malformation With Intellectual Disability, Basal Ganglia Disease And Seizures
X-Linked Syndromic Intellectual Disability 5	X-Linked Intellectual Disability With Dandy-Walker Malformation Basal Ganglia Disease And Seizures
X-Linked Intellectual Disability - Dandy-Walker Malformation - Basal Ganglia Disease - Seizures	X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Mental Retardation, X-Linked Syndromic, Fried Type	Dandy-Walker Malformation With Mental Retardation, Basal Ganglia Disease, And Seizures
Mental Retardation, X-Linked 59

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00780	AP1M2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	AP1M2	VGNC	VGNC:108467
Canis familiaris	AP1M2	VGNC	VGNC:37955
Rattus norvegicus	AP1M2	RGD	RGD:1561490
Mus musculus	AP1M2	MGD	MGI:1336974
Bos taurus	AP1M2	VGNC	VGNC:25980
Felis catus	AP1M2	VGNC	VGNC:67723

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