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This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. The encoded protein is involved in elongation during chondroitin sulfate synthesis. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome X. [provided by RefSeq, Feb 2016]
CSGALNACT2 (Chondroitin Sulfate N-Acetylgalactosaminyltransferase 2) is a Protein Coding gene. Diseases associated with CSGALNACT2 include Coffin-Siris Syndrome 1 and Coffin-Siris Syndrome 2. Among its related pathways are Chondroitin sulfate/dermatan sulfate metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include acetylgalactosaminyltransferase activity and glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity. An important paralog of this gene is CSGALNACT1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 25416956 |
GO:0008376 | acetylgalactosaminyltransferase activity | IDA | 11788602 |
GO:0016740 | transferase activity | IEA | -- |
GO:0046872 | metal ion binding | IEA | -- |
GO:0047237 | glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | TAS | -- |
GO:0005794 | Golgi apparatus | IEA | -- |
GO:0016020 | membrane | IEA,HDA | 19946888 |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0030173 | integral component of Golgi membrane | NAS | 11788602 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Chondroitin sulfate/dermatan sulfate metabolism | ||
2 | Glycosaminoglycan metabolism | ||
3 | Metabolism |
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0030166 | proteoglycan biosynthetic process | IDA | 11788602 |
GO:0030206 | chondroitin sulfate biosynthetic process | TAS | -- |
GO:0050650 | chondroitin sulfate proteoglycan biosynthetic process | IDA | 11788602 |
GO:0050651 | dermatan sulfate proteoglycan biosynthetic process | IDA | 11788602 |
GO:0050652 | dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process | TAS | 11788602 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Uridine diphosphate-N-acetylgalactosamine |
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7277-98-7 |
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ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||||||
SP5: | - | - | - | ||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||
SP7: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CSGALNACT2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CSGALNACT2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CSGALNACT2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Csgalnact2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Csgalnact2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | CSGALNACT2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CSGALNACT2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CSGALNACT2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CSGALNACT2 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | csgalnact2 31 |
|
OneToOne | |
LOC560826 30 |
|
||||
-- 30 |
|
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Fruit Fly (Drosophila melanogaster) |
Insecta | CG12913 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.6775 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs11238456 | - | p.Glu215Lys | |||
rs2435381 | - | p.Pro479Ser |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1015880 | CNV | insertion | 17803354 |
esv28818 | CNV | gain | 19812545 |
esv3578784 | CNV | loss | 25503493 |
esv3623038 | CNV | loss | 21293372 |
nsv1038102 | CNV | gain | 25217958 |
nsv1042310 | CNV | loss | 25217958 |
nsv513008 | CNV | insertion | 21212237 |
nsv947896 | CNV | duplication | 23825009 |
nsv951565 | CNV | duplication | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
coffin-siris syndrome 1 |
|
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coffin-siris syndrome 2 |
|
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coffin-siris syndrome 3 |
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autosomal dominant non-syndromic intellectual disability |
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