1. Gene
  2. MAN2A2 - mannosidase alpha class 2A member 2 Gene

MAN2A2 - mannosidase alpha class 2A member 2 Gene

中文名称:甘露糖苷酶 alpha 2A 类成员 2

种属: Homo sapiens

同用名: MANA2X

基因 ID: 4122 | 基因类型: protein coding

关于 MAN2A2

Cytogenetic location: 15q26.1 Genomic coordinates (GRCh38): 15:90,902,382-90,922,585 (from NCBI)

This gene has 30 transcripts (splice variants), 213 orthologues and 4 paralogues. Ubiquitous expression in bone marrow (RPKM 28.4), brain (RPKM 21.1) and 25 other tissues.

功能概要

预计可启用 α-甘露糖苷酶活性。预计参与 N-聚糖加工和蛋白质去糖基化。预计是膜的组成部分。预测在高尔基体膜中有活性。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable alpha-mannosidase activity. Predicted to be involved in N-glycan processing and protein deglycosylation. Predicted to be integral component of membrane. Predicted to be active in Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022]

MAN2A2 基因产物(2)

mRNA Protein Name
NM_001320977.2 NP_001307906.1 alpha-mannosidase 2x isoform 2
NM_006122.4 NP_006113.2 alpha-mannosidase 2x isoform 1
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
33961781 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

MAN2A2 蛋白结构

Glyco_hydro_38

Glyco_hydro_38: Glycosyl hydrolases family 38 N-terminal domain (167 - 497)

Alpha-mann_mid

Alpha-mann_mid: Alpha mannosidase middle domain (502 - 588)

Glyco_hydro_38C

Glyco_hydro_38C: Glycosyl hydrolases family 38 C-terminal domain (650 - 1146)

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  • 1150 a.a.
蛋白主名 其他名称

alpha-mannosidase 2x

MAN IIx

关联疾病

疾病名称 别名
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2

Abdominal Obesity-Metabolic Syndrome

Abdominal Obesity Metabolic Syndrome

Metabolic Syndrome X

Aoms2

Aoms1

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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus MAN2A2 RGD RGD:1310238
Canis familiaris MAN2A2 VGNC VGNC:42946
Mus musculus MAN2A2 MGD MGI:2150656
Felis catus MAN2A2 VGNC VGNC:80922
Macaca mulatta MAN2A2 VGNC VGNC:81450
Bos taurus MAN2A2 VGNC VGNC:31165