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

Summary
Gene Symbol
  • POMGNT2
Aliases
  • AGO61
  • FLJ14566
  • protein O-mannose beta-1,4-N-acetylglucosaminyltransferase 2
Organism
Homo sapiens (human)
External Links
NCBI Gene
84892
GGDB ID
HGNC
25902
mRNA
Protein
OMIM
KEGG Gene ID
hsa:84892
PubChem
84892
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Congenital muscular dystrophy
  • Disease variant
  • Dystroglycanopathy
  • Endoplasmic reticulum
  • Glycoprotein
  • Glycosyltransferase
  • Limb-girdle muscular dystrophy
  • Lissencephaly
  • Reference proteome
  • Signal-anchor
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q8NAT1
  • Extracellular O-linked N-acetylglucosamine transferase-like
  • Glycosyltransferase-like domain-containing protein 2
Gene Ontology (GO)
GO Hierarchy
GlycoGene Database (GGDB)
GGDB ID
gg235
Gene Symbol
  • POMGNT2
Reactions
Displaying 1 entry
Donor Acceptor Product Reference
UDP-GlcNAc
G61491DK
G97041TX
Displaying 1 entry
Donor Acceptor Product Reference
UDP-GlcNAc
G61491DK
G97041TX
KEGG BRITE Database
Orthology
K18207
Name
protein O-mannose beta-1,4-N-acetylglucosaminyltransferase [EC:2.4.1.312]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 86 in total
DO ID Disease Name Source
DOID:0050453 lissencephaly
DOID:0050557 congenital muscular dystrophy
DOID:0050559 Fukuyama congenital muscular dystrophy
DOID:0050560 Walker-Warburg syndrome
DOID:0050588 muscular dystrophy-dystroglycanopathy type B1
DOID:0050777 Joubert syndrome
DOID:0060255 rippling muscle disease 2
DOID:0060270 pontocerebellar hypoplasia type 2D
DOID:0060276 pontocerebellar hypoplasia type 7
DOID:0060277 pontocerebellar hypoplasia type 8
The Human Phenotype Ontology
Displaying entries 1 - 10 of 60 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000028 Cryptorchidism
HP:0000175 Cleft palate
HP:0000176 Submucous cleft hard palate
HP:0000193 Bifid uvula
HP:0000238 Hydrocephalus
HP:0000252 Microcephaly
HP:0000256 Macrocephaly
HP:0000358 Posteriorly rotated ears
HP:0000369 Low-set ears
Displaying all 3 entries
Disease ID Disease Name
OMIM:614830
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
OMIM:618135
  • muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8
ORPHA:899
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
  • muscular dystrophy-dystroglycanopathy, type A

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024