Gene Gene information from NCBI Gene database.
Entrez ID 55454
Gene name Chondroitin sulfate N-acetylgalactosaminyltransferase 2
Gene symbol CSGALNACT2
Synonyms (NCBI Gene)
CHGN2ChGn-2GALNACT-2GALNACT2PRO0082beta4GalNAcT
Chromosome 10
Chromosome location 10q11.21
Summary 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
miRNA miRNA information provided by mirtarbase database.
169
miRTarBase ID miRNA Experiments Reference
MIRT024661 hsa-miR-215-5p Microarray 19074876
MIRT026540 hsa-miR-192-5p Microarray 19074876
MIRT029723 hsa-miR-26b-5p Microarray 19088304
MIRT053743 hsa-miR-29b-3p Microarray 22942087
MIRT639356 hsa-miR-377-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane NAS 11788602
GO:0000139 Component Golgi membrane TAS
GO:0005515 Function Protein binding IPI 25416956, 32296183, 33961781
GO:0005794 Component Golgi apparatus IEA
GO:0005794 Component Golgi apparatus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616616 24292 ENSG00000169826
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N6G5
Protein name Chondroitin sulfate N-acetylgalactosaminyltransferase 2 (EC 2.4.1.174) (Chondroitin beta-1,4-N-acetylgalactosaminyltransferase 2) (Beta4GalNAcT-2) (GalNAcT-2)
Protein function Transfers 1,4-N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of glucuronic acid (GlcUA). Required for addition of the first GalNAc to the core tetrasaccharide linker and for elongation of chondroitin chains. {ECO:0000269|
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05679 CHGN 57 516 Chondroitin N-acetylgalactosaminyltransferase Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:12433924, ECO:0000269|PubMed:12446672}.
Sequence
Sequence length 542
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate
Metabolic pathways
  Chondroitin sulfate biosynthesis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Sarcoma Uncertain significance rs146092644 RCV005929112
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carotid Body Tumor Associate 30967136
Colorectal Neoplasms Associate 30537927
Hirschsprung Disease Associate 25310821
Lymphoma Non Hodgkin Associate 24548782
Tourette Syndrome Associate 35354918