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Standards Ontologies Notations
LARGE xylosyl- and glucuronyltransferase 2

Summary
Gene Symbol
  • LARGE2
Aliases
  • FLJ35207
  • PP5656
Organism
Homo sapiens (human)
External Links
NCBI Gene
120071
GGDB ID
HGNC
16522
mRNA
map
  • 11p11.2
Protein
OMIM
KEGG Gene ID
hsa:120071
PubChem
120071
Alliance of Genome Resources
Annotation
Keyword
  • Glycoprotein
  • Glycosyltransferase
  • Golgi apparatus
  • Manganese
  • Metal-binding
  • Multifunctional enzyme
  • Proteomics identification
  • Reference proteome
  • Signal
  • Signal-anchor
  • Transferase
  • Transmembrane helix
Proteins
Displaying all 3 entries
UniProt Protein Name
Q8N3Y3
  • Glycosyltransferase-like 1B
  • LARGE xylosyl- and glucuronyltransferase 2
E9PIZ2
B3KP69
Annotation information from UniProt.
Gene Ontology (GO)
Displaying all 3 entries
GO Term Evidence Code PMID
muscle cell cellular homeostasis
protein O-linked glycosylation
protein O-linked mannosylation
GO Hierarchy
Gene Ontology information from NCBI Gene and UniProt.
GlycoGene Database (GGDB)
GGDB ID
gg172
Gene Symbol
  • LARGE2
Reactions
Displaying all 2 entries
Donor Acceptor Product Reference
UDP-GlcA
G16579HJ
UDP-Xyl
G16579HJ
Displaying all 2 entries
Donor Acceptor Product Reference
UDP-Xyl
G16579HJ
UDP-GlcA
G16579HJ
Orthologous Gene
Displaying all 2 entries
Species Protein mRNA
Rattus norvegicus NP_954538 NM_199107
Mus musculus NP_766258 NM_172670
KEGG BRITE Database
Orthology
K09668
Name
glycosyltransferase-like protein LARGE [EC:2.4.2.- 2.4.1.-]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 51 in total
DO ID Disease Name Source
DOID:0050557 congenital muscular dystrophy
DOID:0060255 rippling muscle disease 2
DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2
DOID:0080092 myofibrillar myopathy 1
DOID:0080094 myofibrillar myopathy 3
DOID:0110273 autosomal dominant limb-girdle muscular dystrophy
DOID:0110274 autosomal recessive limb-girdle muscular dystrophy
DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A
DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B
DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C
Ortholog
Displaying entries 21 - 30 of 46 in total
Species Gene ID Alliance of Genome Resources Orthologous MAtrix
118900171 BALMU09160
100667791 LOXAF12391
100056834 HORSE05123
100517024 PIGXX17363
102183620 CAPHI05366
100349053 RABIT01202
100750932 CRIGR03181
228366 MGI:2443769 MOUSE33398
311202 RGD:735214 RATNO29149
100724633 CAVPO19714
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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