AP1M2 - adaptor related protein complex 1 subunit mu 2 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10053

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
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AP1M2 Protein Structure

Clat_adaptor_s

Clat_adaptor_s: Clathrin adaptor complex small chain (4 - 135)

Adap_comp_sub

Adap_comp_sub: Adaptor complexes medium subunit family (157 - 421)

  • 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

AP1M2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
AP1M2 Q9Y6Q5 AP2B1 Homo sapiens P63010 33961781
Intra
AP1M2 Q9Y6Q5 AP2B1 Homo sapiens P63010 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

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

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
Others AP1M2 NCBI