MAN2A1 - mannosidase alpha class 2A member 1 Gene
Also Known as MANA2; MANII; GOLIM7; AMan II
Species: Homo sapiens
About MAN2A1
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 |
MAN2A1 Protein Structure
Glyco_hydro_38: Glycosyl hydrolases family 38 N-terminal domain (167 - 497)
Alpha-mann_mid: Alpha mannosidase middle domain (502 - 588)
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 |
|
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 |
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| Systemic Autoimmune Disease |
|
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| Autoimmune Disease |
|
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| Lupus Erythematosus |
|
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| Mannosidosis, Beta A, Lysosomal |
|
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| Alzheimer Disease 2 |
|
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| Immunodeficiency 47 |
|
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| Systemic Lupus Erythematosus |
|
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| Congenital Disorder Of Glycosylation, Type In |
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