2. Gene
  3. AP3M2 - adaptor related protein complex 3 subunit mu 2 Gene

AP3M2 - adaptor related protein complex 3 subunit mu 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 mu 2

种属: Homo sapiens

同用名: P47B; AP47B; CLA20

基因 ID: 10947 | 基因类型: protein coding

关于 AP3M2

Cytogenetic location: 8p11.21 Genomic coordinates (GRCh38): 8:42,153,063-42,171,183 (from NCBI)

This gene has 17 transcripts (splice variants), 206 orthologues and 7 paralogues. Broad expression in brain (RPKM 10.7), testis (RPKM 8.6) and 24 other tissues.

功能概要

该基因编码异四聚体衔接子相关蛋白复合体 3 (AP-3) 的一个亚基，属于衔接子复合体中等亚基家族。 AP-3 复合物在蛋白质运输到溶酶体和专门的细胞器中发挥作用。已经鉴定出编码相同蛋白质的多个可变剪接变体。[RefSeq 提供，2008 年 8 月]

This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 3 (AP-3), which belongs to the adaptor complexes medium subunits family. The AP-3 complex plays a role in protein trafficking to lysosomes and specialized organelles. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2008]

AP3M2 基因产物(2)

mRNA Protein Name
NM_001134296.2 NP_001127768.1 AP-3 complex subunit mu-2
NM_006803.4 NP_006794.1 AP-3 complex subunit mu-2
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

AP3M2 蛋白结构

Clat_adaptor_s

Clat_adaptor_s: Clathrin adaptor complex small chain (1 - 128)

Adap_comp_sub

Adap_comp_sub: Adaptor complexes medium subunit family (165 - 418)

  • 0
  • 100
  • 200
  • 300
  • 418 a.a.
蛋白主名 其他名称

AP-3 complex subunit mu-2

HA1 47 kDa subunit homolog 2

关联疾病

疾病名称 别名
Farber Lipogranulomatosis

Farber Disease

Acid Ceramidase Deficiency

Ceramidase Deficiency

Ac Deficiency

N-Laurylsphingosine Deacylase Deficiency

Farber'S Disease

FRBRL

Farber'S Lipogranulomatosis

Acylsphingosine Deacylase Deficiency

Farber-Uzman Syndrome

Acy
Generalized Epilepsy With Febrile Seizures Plus

Gefs+

Genetic Epilepsy With Febrile Seizures Plus

Generalized Epilepsy With Febrile Seizures-Plus

Genetic Epilepsy With Febrile Seizures-Plus

Epilepsy, Generalized, With Febrile Seizures Plus
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-RS00793 AP3M2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta AP3M2 VGNC VGNC:69971
Felis catus AP3M2 VGNC VGNC:67730
Rattus norvegicus AP3M2 RGD RGD:70969
Canis familiaris AP3M2 VGNC VGNC:51786
Bos taurus AP3M2 VGNC VGNC:25990
Mus musculus AP3M2 MGD MGI:1929214
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