1. Gene
  2. MANEA - mannosidase endo-alpha Gene

MANEA - mannosidase endo-alpha Gene

Homo sapiens

Also known as ENDO; hEndo

Gene ID: 79694 | Gene type: protein coding

About MANEA

Cytogenetic location: 6q16.1 Genomic coordinates (GRCh38): 6:95,577,535-95,609,452 (from NCBI)

This gene has 11 transcripts (splice variants), 200 orthologues and 1 paralogue. Ubiquitous expression in urinary bladder (RPKM 7.3), thyroid (RPKM 6.8) and 25 other tissues.

Summary

N-glycosylation of proteins is initiated in the endoplasmic reticulum (ER) by the transfer of the preassembled oligosaccharide glucose-3-mannose-9-N-acetylglucosamine-2 from dolichyl pyrophosphate to acceptor sites on the target protein by an oligosaccharyltransferase complex. This core oligosaccharide is sequentially processed by several ER glycosidases and by an endomannosidase (E.C. 3.2.1.130), such as MANEA, in the Golgi. MANEA catalyzes the release of mono-, di-, and triglucosylmannose oligosaccharides by cleaving the alpha-1,2-mannosidic bond that links them to high-mannose glycans (Hamilton et al., 2005 [PubMed 15677381]).[supplied by OMIM, Sep 2008]

MANEA Products(1)

mRNA Protein Name
NM_024641.4 NP_078917.2 glycoprotein endo-alpha-1,2-mannosidase
Protein Preferred Names Protein Names

glycoprotein endo-alpha-1,2-mannosidase

alpha 1,2-endomannosidase

Related Diseases

Diseases Alias
Congenital Disorder Of Glycosylation, Type Iib

CDG2B

CDGIIB

Glucosidase I Deficiency

Congenital Disorder Of Glycosylation Type Iib

Cdg Iib

Mogs-Cdg

Cdg Syndrome Type Iib

Cdg-Iib

Carbohydrate Deficient Glycoprotein Syndrome Type Iib

Congenital Disorder Of Glycosylation Type 2b

Glucosidase 1 Deficiency

Type Iib Congenital Disorder Of Glycosylation

Glycosylation, Congenital Disorder Of, Type Iib

Mannosidosis, Beta A, Lysosomal

Beta-Mannosidosis

Lysosomal Beta-Mannosidase Deficiency

Beta-Mannosidase Deficiency

Beta-D-Mannosidosis

Mannosidosis, Beta

MANSB

Lysosomal Beta A Mannosidosis

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
Rattus norvegicus MANEA RGD RGD:620327
Felis catus MANEA VGNC VGNC:102455
Mus musculus MANEA MGD MGI:2444484
Bos taurus MANEA VGNC VGNC:31169
Canis familiaris MANEA VGNC VGNC:42950
Macaca mulatta MANEA VGNC VGNC:74326