MAN2A1 - mannosidase alpha class 2A member 1 Gene

Also Known as MANA2; MANII; GOLIM7; AMan II

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4124

About 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.

Summary

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 Products (1)

mRNA Protein Name
NM_002372.4 NP_002363.2 alpha-mannosidase 2
Cellular Component GO Annotation Evidence References Source
located in Golgi medial cisterna IDA
IDA: Inferred from direct assay
21525244 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MAN2A1 Protein Structure

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.
Protein Preferred Names Protein Names

alpha-mannosidase 2

  • Golgi alpha-mannosidase II

MAN2A1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P86954 MAN2A1 Antibody (YA6647) WB, IHC-P, FC Human, Mouse, Rat

Related Diseases

Diseases Alias
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

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

Orthologs Information

Species Symbol Source 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