AP3B2 - adaptor related protein complex 3 subunit beta 2 Gene

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

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

Bioactive Molecules (1)

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

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