• Gene id: 84892

Gene Summary

• Gene Symbol: POMGNT2   Gene   UCSC   Ensembl
• Aliases: AGO61, C3orf39, GTDC2, MDDGA8, MDDGC8
• Gene name: protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
• Alternate names: protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2, glycosyltransferase-like domain containing 2, glycosyltransferase-like domain-containing protein 2, protein O-mannose beta-1,4-N-acetylglucosaminyltransferase 2,
• Gene location: 3p22.1 (43106084: 43079228)     Exons: 4     NC_000003.12
• Gene summary(Entrez): This gene encodes a protein with glycosyltransferase activity although its function is not currently known. [provided by RefSeq, Sep 2012]
• OMIM: 614828

Protein Summary

• Protein general information: Q8NAT1  
  • Name: Protein O linked mannose beta 1,4 N acetylglucosaminyltransferase 2 (POMGnT2) (EC 2.4.1.312) (Extracellular O linked N acetylglucosamine transferase like) (Glycosyltransferase like domain containing protein 2)
  • Length: 580  
  • Mass: 66615
  • Tissue specificity: Highly expressed in the brain, muscle, heart, and kidney in both fetus and adult. In the brain, highest expression in the cortex and cerebellum. Highly expressed in the pancreas. {ECO
• Sequence:

  MHLSAVFNALLVSVLAAVLWKHVRLREHAATLEEELALSRQATEPAPALRIDYPKALQILMEGGTHMVCTGRTHT
  DRICRFKWLCYSNEAEEFIFFHGNTSVMLPNLGSRRFQPALLDLSTVEDHNTQYFNFVELPAAALRFMPKPVFVP
  DVALIANRFNPDNLMHVFHDDLLPLFYTLRQFPGLAHEARLFFMEGWGEGAHFDLYKLLSPKQPLLRAQLKTLGR
  LLCFSHAFVGLSKITTWYQYGFVQPQGPKANILVSGNEIRQFARFMTEKLNVSHTGVPLGEEYILVFSRTQNRLI
  LNEAELLLALAQEFQMKTVTVSLEDHTFADVVRLVSNASMLVSMHGAQLVTTLFLPRGATVVELFPYAVNPDHYT
  PYKTLAMLPGMDLQYVAWRNMMPENTVTHPERPWDQGGITHLDRAEQARILQSREVPRHLCCRNPEWLFRIYQDT
  KVDIPSLIQTIRRVVKGRPGPRKQKWTVGLYPGKVREARCQASVHGASEARLTVSWQIPWNLKYLKVREVKYEVW
  LQEQGENTYVPYILALQNHTFTENIKPFTTYLVWVRCIFNKILLGPFADVLVCNT

• Structural information:
  • Protein Domains: (488..58-)
    (/note="Fibronectin-type-III)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00316"-)
  • Interpro: IPR003961  IPR036116  IPR007657  IPR013783  
  • Prosite: PS50853
  • CDD: cd00063
  • STRING: ENSP00000344125
• Other Databases: GeneCards:  POMGNT2  Malacards:  POMGNT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0097363	protein O-GlcNAc transferase activity	IDA	molecular function
GO:0006493	protein O-linked glycosylation	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0008375	acetylglucosaminyltransferase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001764	neuron migration	IEA	biological process
GO:0035269	protein O-linked mannosylation	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process
GO:0008375	acetylglucosaminyltransferase activity	IBA	molecular function
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0097363	protein O-GlcNAc transferase activity	IBA	molecular function
GO:0035269	protein O-linked mannosylation	IBA	biological process
GO:0016757	transferase activity, transferring glycosyl groups	IBA	molecular function
GO:0008375	acetylglucosaminyltransferase activity	IDA	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0006493	protein O-linked glycosylation	IDA	biological process
GO:0001764	neuron migration	ISS	biological process
GO:0035269	protein O-linked mannosylation	ISS	biological process
GO:0097363	protein O-GlcNAc transferase activity	IMP	molecular function
GO:0006493	protein O-linked glycosylation	IMP	biological process
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00515	Mannose type O-glycan biosynthesis

Diseases

Associated diseases	References
Muscular dystrophy-dystroglycanopathy type A	KEGG:H00120
Muscular dystrophy-dystroglycanopathy	KEGG:H02307
Muscular dystrophy-dystroglycanopathy type A	KEGG:H00120
Muscular dystrophy-dystroglycanopathy	KEGG:H02307
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881