POMGNT2 (protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-))

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84892
Gene name Gene Name - the full gene name approved by the HGNC.
Protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
POMGNT2
Synonyms (NCBI Gene) Gene synonyms aliases
AGO61, C3orf39, GTDC2, MDDGA8, MDDGC8
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MDDGA8, MDDGC8
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p22.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein with glycosyltransferase activity although its function is not currently known. [provided by RefSeq, Sep 2012]
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(18)
SNP ID Visualize variation Clinical significance Consequence
rs142190930 T>C Conflicting-interpretations-of-pathogenicity, benign Synonymous variant, coding sequence variant
rs143394182 C>T Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs146511234 C>T Conflicting-interpretations-of-pathogenicity, benign Coding sequence variant, missense variant
rs147429438 G>A,C Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, synonymous variant, missense variant
rs200535361 T>C Conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(12)
miRTarBase ID miRNA Experiments Reference
MIRT740377 hsa-miR-329-3p HITS-CLIP 19536157
MIRT740378 hsa-miR-362-3p HITS-CLIP 19536157
MIRT740379 hsa-miR-4729 HITS-CLIP 19536157
MIRT740380 hsa-miR-5696 HITS-CLIP 19536157
MIRT740377 hsa-miR-329-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(19)
GO ID Ontology Definition Evidence Reference
GO:0001764 Process Neuron migration ISS
GO:0005515 Function Protein binding IPI 25416956
GO:0005783 Component Endoplasmic reticulum IBA 21873635
GO:0005783 Component Endoplasmic reticulum IDA 23929950, 27066570
GO:0005789 Component Endoplasmic reticulum membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
614828 25902 ENSG00000144647
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q8NAT1
Protein 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)
Protein function O-linked mannose beta-1,4-N-acetylglucosaminyltransferase that transfers UDP-N-acetyl-D-glucosamine to the 4-position of the mannose to generate N-acetyl-D-glucosamine-beta-1,4-O-D-mannosylprotein. Involved in the biosynthesis of the phosphoryla
PDB 6XFI , 8KB7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04577 DUF563 162 → 395 Protein of unknown function (DUF563) Family
Tissue specificity 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:0000269|PubMed:22958903}.
Sequence 
MHLSAVFNALLVSVLAAVLWKHVRLREHAATLEEELALSRQATEPAPALRIDYPKALQIL
MEGGTHMVCTGRTHTDRICRFKWLCYSNEAEEFIFFHGNTSVMLPNLGSRRFQPALLDLS
TVEDHNTQYFNFVELPAAALRFMPKPVFVPDVALIANRFNPDNLMHVFHDDLLPLFYTLR
QFPGLAHEARLFFMEGWGEGAHFDLYKLLSPKQPLLRAQLKTLGRLLCFSHAFVGLSKIT
TWYQYGFVQPQGPKANILVSGNEIRQFARFMTEKLNVSHTGVPLGEEYILVFSRTQNRLI
LNEAELLLALAQEFQMKTVTVSLEDHTFADVVRLVSNASMLVSMHGAQLVTTLFLPRGAT
VVELFPYAVNPDHYTPYKTLAMLPGMDLQYVAWRNMMPENTVTHPERPWDQGGITHLDRA
EQARILQSREVPRHLCCRNPEWLFRIYQDTKVDIPSLIQTIRRVVKGRPGPRKQKWTVGL
YPGKVREARCQASVHGASEARLTVSWQIPWNLKYLKVREVKYEVWLQEQGENTYVPYILA
LQNHTFTENIKPFTTYLVWVRCIFNKILLGPFADVLVCNT
Sequence length 580
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Mannose type O-glycan biosynthesis
Metabolic pathways 		  O-linked glycosylation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (23)
Causal
Disease term Disease name dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 rs119463990, rs587777813, rs398123555, rs119463996, rs587777748, rs119463991, rs119463992, rs119464997, rs267606814, rs119463989, rs533916138, rs587777815, rs200198778, rs267606969, rs267606963
View all (138 more)		 27066570, 22958903
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Show/Hide Unknown Diseases (3)
Unknown
Disease term Disease name Evidence References Source
Specific learning disorder Specific learning disability ClinVar
Myopathy myopathy caused by variation in POMGNT2 GenCC
Insomnia Insomnia GWAS
Show/Hide Text Mining Associations (5)
Associations from Text Mining
Disease Name Relationship Type References
Exotropia Associate 39773702
Malformations of Cortical Development Associate 32570172, 34301702
Muscular Dystrophies Associate 23929950
Muscular Dystrophies Limb Girdle Associate 33825709
Walker Warburg Syndrome Associate 22958903, 33825709