2. Gene
  3. AP3B2 - adaptor related protein complex 3 subunit beta 2 Gene

AP3B2 - adaptor related protein complex 3 subunit beta 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as DEE48; NAPTB; EIEE48

Gene ID: 8120 | Gene type: protein coding

About AP3B2

Cytogenetic location: 15q25.2 Genomic coordinates (GRCh38): 15:82,659,281-82,709,875 (from NCBI)

This gene has 42 transcripts (splice variants), 209 orthologues, 4 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 16.0), testis (RPKM 3.0) and 1 other tissue.

Summary

Adaptor protein complex 3 (AP-3 complex) is a heterotrimeric protein complex involved in the formation of clathrin-coated synaptic vesicles. The protein encoded by this gene represents the beta subunit of the neuron-specific AP-3 complex and was first identified as the target antigen in human paraneoplastic neurologic disorders. The encoded subunit binds clathrin and is phosphorylated by a casein kinase-like protein, which mediates synaptic vesicle coat assembly. Defects in this gene are a cause of early-onset epileptic encephalopathy. [provided by RefSeq, Feb 2017]

AP3B2 Products(5)

mRNA Protein Name
NM_001278511.2 NP_001265440.1 AP-3 complex subunit beta-2 isoform 3
NM_001278512.2 NP_001265441.1 AP-3 complex subunit beta-2 isoform 1
NM_001348440.2 NP_001335369.1 AP-3 complex subunit beta-2 isoform 4
NM_001348441.2 NP_001335370.1 AP-3 complex subunit beta-2 isoform 5
NM_004644.5 NP_004635.2 AP-3 complex subunit beta-2 isoform 2

AP3B2 Protein Structure

Adaptin_N

Adaptin_N: Adaptin N terminal region (36 - 589)

AP3B1_C

AP3B1_C: Clathrin-adaptor complex-3 beta-1 subunit C-terminal (802 - 947)

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  • 1082 a.a.
Protein Preferred Names Protein Names

AP-3 complex subunit beta-2

Neuronal adaptin-like protein, beta-subunit

Related Diseases

Diseases Alias
Developmental And Epileptic Encephalopathy 48

DEE48

Epileptic Encephalopathy, Early Infantile, 48

Eiee48

Developmental And Epileptic Encephalopathy, 48

Early Infantile Epileptic Encephalopathy 48
Non-Specific Early-Onset Epileptic Encephalopathy

Undetermined Early-Onset Epileptic Encephalopathy

Non-Specific Eoee

Undetermined Eoee
Paraneoplastic Neurologic Disorders

Pnd

Paraneoplastic Neurologic Syndrome

Pns
Developmental And Epileptic Encephalopathy 21

DEE21

Epileptic Encephalopathy, Early Infantile, 21

Eiee21

Developmental And Epileptic Encephalopathy, 21

Early Infantile Epileptic Encephalopathy 21

Encephalopathy, Epileptic, Early Infantile, Type 21
Developmental And Epileptic Encephalopathy 50

DEE50

Epileptic Encephalopathy, Early Infantile, 50

Eiee50

Developmental And Epileptic Encephalopathy, 50

Congenital Disorder Of Glycosylation, Type Iz, Formerly

Cdg1z, Formerly

Carbohydrate Deficient Glycoprotein Syndrome Type Iz

Cdg Syndrome Type Iz

Cdg-Iz

Congenital Disorder Of Glycosylation Type 1z

Early Infantile Epileptic Encephalopathy 50

Cdg1z

Congenital Disorder Of Glycosylation 1z

Encephalopathy, Epileptic, Early Infantile,, Type 50
Encephalopathy

Brain Diseases

Encephalopathies

Toxic Encephalopathy

Toxic Brain Fever

Toxic Brain Inflammation

Toxic Brain Stem Inflammation

Toxic Cerebral Fever

Toxic Cerebrospinal Fever

Toxic Cerebrospinal Inflammation

Encephalopathy Nec

Encephalopathy Nos

Encephalopathy Disease

Encephalopathy Syndrome
Lambert-Eaton Myasthenic Syndrome

Lambert-Eaton Syndrome

Eaton-Lambert Syndrome

Lems

Lambert Eaton Myasthenic Syndrome

Eaton Lambert Syndrome

Lambert Eaton Syndrome

Myasthenic Syndrome Of Lambert-Eaton

Myasthenic-Myopathic Syndrome Of Lambert-Eaton

Lems - [Lambert-Eaton Myasthenic Syndrome]
Epilepsy, Idiopathic Generalized 14

EIG14

Epilepsy, Idiopathic Generalized, Susceptibility To, 14

Idiopathic Generalized Epilepsy 14

{Epilepsy, Idiopathic Generalized, Susceptibility To, 14}
Developmental And Epileptic Encephalopathy 27

DEE27

Epileptic Encephalopathy, Early Infantile, 27

Eiee27

Developmental And Epileptic Encephalopathy, 27

Early Infantile Epileptic Encephalopathy 27

Encephalopathy, Developmental And Epileptic, Type 27
Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic
Angelman Syndrome

AS

Happy Puppet Syndrome

Happy Puppet Syndrome, Formerly

Puppetlike Syndrome
Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile
Hermansky-Pudlak Syndrome

Hps

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Hermanski-Pudlak Syndrome

Hermansky Pudlak Syndrome

Platelet Storage Pool Deficiency
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-RS00790 AP3B2 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus AP3B2 MGD MGI:1100869
Felis catus AP3B2 VGNC VGNC:67727
Macaca mulatta AP3B2 VGNC VGNC:69968
Bos taurus AP3B2 VGNC VGNC:58587
Canis familiaris AP3B2 VGNC VGNC:37964
Rattus norvegicus AP3B2 RGD RGD:1308950