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

AP3B2 - adaptor related protein complex 3 subunit beta 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：适配器相关蛋白复合物 3 亚基 beta 2

种属: Homo sapiens

同用名: DEE48; NAPTB; EIEE48

基因 ID: 8120 | 基因类型: protein coding

关于 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.

功能概要

衔接蛋白复合物 3 (AP-3 复合物) 是一种异源三聚体蛋白复合物，参与网格蛋白包被的突触小泡的形成。由该基因编码的蛋白质代表神经元特异性 AP-3 复合物的 β 亚基，最初被确定为人类副肿瘤性神经系统疾病的靶抗原。编码的亚基结合网格蛋白并被酪蛋白激酶样蛋白磷酸化，后者介导突触囊泡外壳组装。该基因的缺陷是早发性癫痫性脑病的一个原因。[RefSeq 提供，2017 年 2 月]

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 基因产物(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 蛋白结构

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)

  • 0
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  • 1000
  • 1082 a.a.
蛋白主名 其他名称

AP-3 complex subunit beta-2

Neuronal adaptin-like protein, beta-subunit

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS00790 AP3B2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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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