1. Gene
  2. MAN2A1 - mannosidase alpha class 2A member 1 Gene

MAN2A1 - mannosidase alpha class 2A member 1 Gene

中文名称:甘露糖苷酶 alpha 2A 类成员 1

种属: Homo sapiens

同用名: MANA2; MANII; GOLIM7; AMan II

基因 ID: 4124 | 基因类型: protein coding

关于 MAN2A1

Cytogenetic location: 5q21.3 Genomic coordinates (GRCh38): 5:109,689,927-109,869,625 (from NCBI)

This gene has 6 transcripts (splice variants), 169 orthologues and 4 paralogues. Ubiquitous expression in duodenum (RPKM 14.9), colon (RPKM 14.2) and 25 other tissues.

功能概要

该基因编码糖基水解酶,定位于高尔基体并催化天冬酰胺连接的寡糖 (N-聚糖) 成熟途径中的最终水解步骤。该基因在小鼠同系物中的突变已被证明会引起类似于人类系统性红斑狼疮的全身性自身免疫性疾病。[RefSeq 提供,2013 年 12 月]

This gene encodes a glycosyl hydrolase that localizes to the Golgi and catalyzes the final hydrolytic step in the asparagine-linked oligosaccharide (N-glycan) maturation pathway. Mutations in the mouse homolog of this gene have been shown to cause a systemic autoimmune disease similar to human systemic lupus erythematosus. [provided by RefSeq, Dec 2013]

MAN2A1 基因产物(1)

mRNA Protein Name
NM_002372.4 NP_002363.2 alpha-mannosidase 2

MAN2A1 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 - 1140)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1144 a.a.
蛋白主名 其他名称

alpha-mannosidase 2

Golgi alpha-mannosidase II

关联疾病

疾病名称 别名
Congenital Dyserythropoietic Anemia

Congenital Dyshaematopoietic Anaemia

Dyserythropoietic Anemia, Congenital

Cda

Anemia, Dyserythropoietic, Congenital

Anemia Dyserythropoietic Congenital

Cda - [Congenital Dyserythropoietic Anaemia]

Dyserythropoietic Dyshaematopoietic Congenital Anaemia

Dyshaematopoietic Anaemia

Dyserythropoietic Anaemia

Systemic Autoimmune Disease
Autoimmune Disease

Autoimmune Diseases

Autoimmune Hypersensitivity Disease

Hypersensitivity Reaction Type Ii Disease

Type Ii Hypersensitivity Reaction Disease

Lupus Erythematosus

Lupus

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus, Systemic

Subacute Cutaneous Lupus

Le - [Lupus Erythematosus]

Mannosidosis, Beta A, Lysosomal

Beta-Mannosidosis

Lysosomal Beta-Mannosidase Deficiency

Beta-Mannosidase Deficiency

Beta-D-Mannosidosis

Mannosidosis, Beta

MANSB

Lysosomal Beta A Mannosidosis

Alzheimer Disease 2

AD2

Alzheimer Disease Associated With Apoe4

Alzheimer'S Disease 2

Alzheimer Disease-2

Alzheimer Disease 2, Late-Onset

Alzheimer Disease 2, Late Onset

Late-Onset Alzheimer Disease

Alzheimer Disease, Type 2

Alzheimer Disease, Late Onset

Immunodeficiency 47

Congenital Disorder Of Glycosylation Type Ii

CDG2E

Congenital Disorder Of Glycosylation Type Iie

IMD47

Cdg2s

Cdg Iis

Cdgiis

Immunodeficiency And Hepatopathy With Or Without Neurologic Features

Congenital Disorder Of Glycosylation, Type Ii

CDG1I

Congenital Disorder Of Glycosylation, Type Iie

Cdg Iie

Congenital Disorder Of Glycosylation Type 2e

Congenital Disorder Of Glycosylation, Type Iis

Cdg Ii

Cdgii

Cdgiie

Carbohydrate Deficient Glycoprotein Syndrome Type Iie

Cdg Syndrome Type Iie

Congenital Disorder Of Glycosylation Ii

Congenital Disorder Of Glycosylation 1i

Cdg-Iie

Alg2-Cdg

Cdg-Ii

Glycosylation, Congenital Disorder Of, Type Ii

Cdgiide

Congenital Disorder Of Glycosylation Type Iis

Cog7-Cdg

Cdg Syndrome Type Ii

Carbohydrate Deficient Glycoprotein Syndrome Type Ii

Congenital Disorder Of Glycosylation Type 1i

Mannosyltransferase 2 Deficiency

Congenital Disorder Of Glycosylation 2e

Congenital Disorder Of Glycosylation 2s

Congenital Disorders Of Glycosylation Type Ii

Glycosylation, Congenital Disorder Of, Type Iie

Immunodeficiency, Type 47

Congenital Disorder Of Glycosylation Type 2a

Systemic Lupus Erythematosus

Lupus Nephritis

SLE

Disseminated Lupus Erythematosus

Systemic Lupus Erythematosus, Susceptibility To

Lupus Erythematosus, Systemic

Lupus Nephritis, Susceptibility To

Libman-Sacks Disease

Systemic Lupus Erythematosus Susceptibility To

Sle - Lupus Erythematosus, Systemic

Le Syndrome

Lupus

Lupus Erythematosus Systemic

Lupus Erythematosus, Systemic, Susceptibility To

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus

Systemic Lupus Erythematosus Nos

Sle - [Systemic Lupus Erythematosus]

Congenital Disorder Of Glycosylation, Type In

Congenital Disorder Of Glycosylation

CDG1N

Congenital Disorders Of Glycosylation

Cdg In

Cdgin

Congenital Disorder Of Glycosylation 1n

Carbohydrate-Deficient Glycoprotein Syndrome

Cdg

Rft1-Cdg

Cdg-In

Congenital Disorder Of Glycosylation Type In

Carbohydrate Deficient Glycoprotein Syndrome

Cdg Syndrome

Congenital Disorder Of Glycosylation In

Carbohydrate-Deficient Glycoprotein Syndromes

Cdg Syndrome Type In

Carbohydrate Deficient Glycoprotein Syndrome Type In

Congenital Disorder Of Glycosylation Type 1n

Man5glcnac2-Pp-Dol Flippase Deficiency

Glycosylation, Congenital Disorder Of

Glycosylation, Congenital Disorder Of, Type In

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
Macaca mulatta MAN2A1 VGNC VGNC:81449
Bos taurus MAN2A1 VGNC VGNC:31164
Mus musculus MAN2A1 MGD MGI:104669
Felis catus MAN2A1 VGNC VGNC:97490
Rattus norvegicus MAN2A1 RGD RGD:3038
Canis familiaris MAN2A1 VGNC VGNC:42945