1. Gene
  2. MGAT5B - alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B Gene

MGAT5B - alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B Gene

Homo sapiens

Also known as GnT-IX; GnT-VB

Gene ID: 146664 | Gene type: protein coding

About MGAT5B

Cytogenetic location: 17q25.2 Genomic coordinates (GRCh38): 17:76,868,404-76,950,393 (from NCBI)

This gene has 9 transcripts (splice variants), 272 orthologues and 2 paralogues. Biased expression in brain (RPKM 5.4) and testis (RPKM 0.7).

Summary

The MGAT5B gene encodes a beta-1,6-N-acetylglucosaminyltransferase (EC 2.4.1.155) that functions in the synthesis of complex cell surface N-glycans (Kaneko et al., 2003 [PubMed 14623122]).[supplied by OMIM, Nov 2008]

MGAT5B Products(3)

mRNA Protein Name
NM_001199172.2 NP_001186101.1 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B isoform 3
NM_144677.3 NP_653278.2 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B isoform 1
NM_198955.1 NP_945193.1 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B isoform 2

MGAT5B Protein Structure

Glyco_transf_18

Glyco_transf_18: Glycosyltransferase family 18 (184 - 777)

  • 0
  • 200
  • 400
  • 600
  • 792 a.a.
Protein Preferred Names Protein Names

alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B

N-acetylglucosaminyl-transferase Vb

Related Diseases

Diseases Alias
Walker-Warburg Syndrome

Hard Syndrome

Walker-Warburg Congenital Muscular Dystrophy

Cerebroocular Dysplasia-Muscular Dystrophy Syndrome

Cod-Md Syndrome

Chemke Syndrome

Hydrocephalus, Agyria And Retinal Dysplasia

Cerebroocular Dysgenesis

Cerebroocular Dysplasia Muscular Dystrophy Syndrome

Hard +/- E Syndrome

Pagon Syndrome

Warburg Syndrome

Hydrocephalus, Agyria, And Retinal Dysplasia

Mddga

Muscular Dystrophy-Dystroglycanopathy , Type A

Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A

Hydrocephalus-Agyria-Retinal Dysplasia Syndrome

Wws

Dystrophy, Muscular, Dystroglycanopathy, Type A

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 MGAT5B VGNC VGNC:74566
Bos taurus MGAT5B VGNC VGNC:55847
Mus musculus MGAT5B MGD MGI:3606200
Rattus norvegicus MGAT5B RGD RGD:1305188
Canis familiaris MGAT5B VGNC VGNC:55787
Felis catus MGAT5B VGNC VGNC:63488