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LARGE2 (LARGE Xylosyl- And Glucuronyltransferase 2) is a Protein Coding gene. Diseases associated with LARGE2 include Interstitial Myocarditis and Muscular Dystrophy-Dystroglycanopathy , Type B, 6. Among its related pathways are Metabolism of proteins and Metabolism. An important paralog of this gene is LARGE1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003824 | catalytic activity | IEA | -- |
GO:0005515 | protein binding | IPI | 19587235 |
GO:0015020 | glucuronosyltransferase activity | TAS | -- |
GO:0016740 | transferase activity | IEA | -- |
GO:0016757 | transferase activity, transferring glycosyl groups | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | TAS | -- |
GO:0005623 | cell | IEA | -- |
GO:0005794 | Golgi apparatus | IBA | 21873635 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism of proteins | ||
2 | Mannose type O-glycan biosynthesis | ||
3 | Metabolism | ||
4 | O-linked glycosylation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006486 | protein glycosylation | IEA | -- |
GO:0006493 | protein O-linked glycosylation | TAS | -- |
GO:0008152 | metabolic process | IEA | -- |
GO:0035269 | protein O-linked mannosylation | IDA | 25138275 |
GO:0046716 | muscle cell cellular homeostasis | ISS | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GYLTL1B 30 |
|
||
Cow (Bos Taurus) |
Mammalia | GYLTL1B 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GYLTL1B 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Gyltl1b 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Gyltl1b 30 31 |
|
OneToOne | |
Large2 17 |
|
||||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | GYLTL1B 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | GYLTL1B 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GYLTL1B 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | gyltl1b 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | lge-1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs11038713 | - | p.Arg546Trp | |||
rs17853729 | - | p.Glu37Lys | |||
rs2271851 | - | p.Arg677Cys |
Disorder | Aliases | PubMed IDs |
---|---|---|
interstitial myocarditis |
|
|
muscular dystrophy-dystroglycanopathy , type b, 6 |
|
|
muscular dystrophy, congenital, lmna-related |
|
|
ureteral benign neoplasm |
|
|
walker-warburg syndrome |
|
|