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Mgat2 Gene Detail
Summary
  • Symbol
    Mgat2
  • Name
    mannoside acetylglucosaminyltransferase 2
  • Synonyms
    CDGS2, GNT2, GNT-II
  • Feature Type
    protein coding gene
  • IDs
    MGI:2384966
    NCBI Gene: 217664
  • Gene Overview
    MyGene.info: MGAT2
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr12:69184157-69186770 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      2614 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 28.73 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    MGAT2, mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
  • Vertebrate Orthologs
    9
  • Human Ortholog
    MGAT2, mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CDG2A, CDGS2, GLCNACTII, GNT2, GNT-II
  • Links
    NCBI Gene ID: 4247
    neXtProt AC: NX_Q10469
    UniProt: Q10469

  • Chr Location
    14q21.3; chr14:49620771-49623481 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Mgat2 mouse models; 1 with human MGAT2 associations

Human Disease Mouse Models
      
IDs
View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    41 phenotypes from 1 allele in 2 genetic backgrounds
    7 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous null mice recapitulate aspects of the phenotype exhibited by patients with congenital disorders of glycosylation (CDG), particularly type IIa. Most null mice died either embyronically or postnataly and exhibited muscular, gastrointestinal, hematologic, and osteogenic defects.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000023816 VEGA Gene Model | MGI Sequence Detail 2614 C57BL/6J ±  kb
    transcript OTTMUST00000058177 VEGA | MGI Sequence Detail 2614 Not Applicable  
    polypeptide OTTMUSP00000028149 VEGA | MGI Sequence Detail 442 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      32 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 16
      cDNA 16

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2144720
    References
    more
    • Summaries
      All 38
      Developmental Gene Expression 2
      Diseases 1
      Gene Ontology 5
      Phenotypes 7
    • Earliest
      J:80661 Wang Y, et al., Modeling human congenital disorder of glycosylation type IIa in the mouse: conservation of asparagine-linked glycan-dependent functions in mammalian physiology and insights into disease pathogenesis. Glycobiology. 2001 Dec;11(12):1051-70
    • Latest
      J:250880 McFie PJ, et al., Membrane topology of human monoacylglycerol acyltransferase-2 and identification of regions important for its localization to the endoplasmic reticulum. Biochim Biophys Acta. 2016 Sep;1861(9 Pt A):1192-1204

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    07/31/2018
    MGI 6.12
    The Jackson Laboratory