• Gene id: 55454

Gene Summary

• Gene Symbol: CSGALNACT2   Gene   UCSC   Ensembl
• Aliases: CHGN2, ChGn-2, GALNACT-2, GALNACT2, PRO0082, beta4GalNAcT
• Gene name: chondroitin sulfate N-acetylgalactosaminyltransferase 2
• Alternate names: chondroitin sulfate N-acetylgalactosaminyltransferase 2, beta 4 GalNAcT-2, chondroitin beta1,4 N-acetylgalactosaminyltransferase 2, glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase 2,
• Gene location: 10q11.21 (43138444: 43185307)     Exons: 11     NC_000010.11
• Gene summary(Entrez): 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 rela
• OMIM: 617583

Protein Summary

• Protein general information: Q8N6G5  
  • Name: Chondroitin sulfate N acetylgalactosaminyltransferase 2 (EC 2.4.1.174) (Chondroitin beta 1,4 N acetylgalactosaminyltransferase 2) (Beta4GalNAcT 2) (GalNAcT 2)
  • Length: 542  
  • Mass: 62572
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MPRRGLILHTRTHWLLLGLALLCSLVLFMYLLECAPQTDGNASLPGVVGENYGKEYYQALLQEQEEHYQTRATSL
  KRQIAQLKQELQEMSEKMRSLQERRNVGANGIGYQSNKEQAPSDLLEFLHSQIDKAEVSIGAKLPSEYGVIPFES
  FTLMKVFQLEMGLTRHPEEKPVRKDKRDELVEVIEAGLEVINNPDEDDEQEDEEGPLGEKLIFNENDFVEGYYRT
  ERDKGTQYELFFKKADLTEYRHVTLFRPFGPLMKVKSEMIDITRSIINIIVPLAERTEAFVQFMQNFRDVCIHQD
  KKIHLTVVYFGKEGLSKVKSILESVTSESNFHNYTLVSLNEEFNRGRGLNVGARAWDKGEVLMFFCDVDIYFSAE
  FLNSCRLNAEPGKKVFYPVVFSLYNPAIVYANQEVPPPVEQQLVHKKDSGFWRDFGFGMTCQYRSDFLTIGGFDM
  EVKGWGGEDVHLYRKYLHGDLIVIRTPVPGLFHLWHEKRCADELTPEQYRMCIQSKAMNEASHSHLGMLVFREEI
  ETHLHKQAYRTNSEAVG

• Structural information:
  • Interpro: IPR008428  IPR029044  
  • STRING: ENSP00000363590
• Other Databases: GeneCards:  CSGALNACT2  Malacards:  CSGALNACT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008376	acetylgalactosaminyltransferase activity	IEA	molecular function
GO:0032580	Golgi cisterna membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0047237	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	IEA	molecular function
GO:0030206	chondroitin sulfate biosynthetic process	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050650	chondroitin sulfate proteoglycan biosynthetic process	IEA	biological process
GO:0008376	acetylgalactosaminyltransferase activity	IEA	molecular function
GO:0032580	Golgi cisterna membrane	IEA	cellular component
GO:0030166	proteoglycan biosynthetic process	IDA	biological process
GO:0008376	acetylgalactosaminyltransferase activity	IDA	molecular function
GO:0050650	chondroitin sulfate proteoglycan biosynthetic process	IDA	biological process
GO:0050651	dermatan sulfate proteoglycan biosynthetic process	IDA	biological process
GO:0016020	membrane	HDA	cellular component
GO:0050653	chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	TAS	biological process
GO:0030173	integral component of Golgi membrane	NAS	cellular component
GO:0050652	dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00532	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate

Diseases

Associated diseases	References
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray