AP3B2 - adaptor related protein complex 3 subunit beta 2 Gene

Also Known as DEE48; NAPTB; EIEE48

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8120

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

AP3B1_C

0
200
400
600
800
1000
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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00790	AP3B2 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	AP3B2	NCBI