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Pomgnt2 Gene Detail
Summary
  • Symbol
    Pomgnt2
  • Name
    protein O-linked mannose beta 1,4-N-acetylglucosaminyltransferase 2
  • Synonyms
    C85492, Gtdc2
  • Feature Type
    protein coding gene
  • IDs
    MGI:2143424
    NCBI Gene: 215494
Location & Maps
more
  • Sequence Map
    Chr9:121981606-121996026 bp, - strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      14421 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    POMGNT2, protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
  • Vertebrate Orthologs
    10
  • Human Ortholog
    POMGNT2, protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
    Orthology source: HGNC, HomoloGene
  • Synonyms
    AGO61, C3orf39, GTDC2, MDDGA8
  • Links
    NCBI Gene ID: 84892
    neXtProt AC: NX_Q8NAT1

  • Chr Location
    3p22.1; chr3:43079229-43106083 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human POMGNT2 associations

Human Disease Mouse Models
       Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type A, 8; MDDGA8   OMIM: 614830
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    9 phenotypes from 1 allele in 1 genetic background
    5 phenotype references
Phenotype Overview

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

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit decreased birth body size and complete neonatal lethality associated with abnormal basal lamina formation and a neuronal migration defect due to a lack of laminin-binding glycans on alpha-dystroglycan.
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 215494 NCBI Gene Model | MGI Sequence Detail 14421 C57BL/6J ±  kb
transcript NM_001289558 RefSeq | MGI Sequence Detail 2526 C57BL/6  
polypeptide Q8BW41 UniProt | EBI | MGI Sequence Detail 605 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    62 from dbSNP Build 142
Protein
Information
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  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000031355 glycosyltransferase-like domain-containing protein 2
  • EC
  • InterPro Domains
    IPR003961 Fibronectin type III
    IPR007657 Glycosyltransferase AER61, uncharacterised
    IPR013783 Immunoglobulin-like fold
Molecular
Reagents
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  • All nucleic 25
    cDNA 24
    Primer pair 1

    Microarray probesets 3
References
more
  • Summaries
    All 29
    Developmental Gene Expression 1
    Gene Ontology 6
    Phenotypes 5
  • Earliest
    J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
  • Latest
    J:215959 Yagi H, et al., AGO61-dependent GlcNAc modification primes the formation of functional glycans on alpha-dystroglycan. Sci Rep. 2013;3:3288

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
05/17/2016
MGI 6.03
The Jackson Laboratory