Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55454
Gene name Gene Name - the full gene name approved by the HGNC.
Chondroitin sulfate N-acetylgalactosaminyltransferase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CSGALNACT2
Synonyms (NCBI Gene) Gene synonyms aliases
CHGN2, ChGn-2, GALNACT-2, GALNACT2, PRO0082, beta4GalNAcT
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q11.21
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0008376 Function Acetylgalactosaminyltransferase activity IBA 21873635
GO:0008376 Function Acetylgalactosaminyltransferase activity IDA 11788602
GO:0016020 Component Membrane HDA 19946888
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
616616 24292 ENSG00000169826
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Hirschsprung disease Hirschsprung Disease rs76262710, rs75996173, rs77316810, rs75076352, rs76534745, rs76764689, rs76449634, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323
View all (4 more)
19196962
Multiple sclerosis Multiple Sclerosis rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039
View all (4 more)
24076602
Unknown
Disease term Disease name Evidence References Source
Multiple Sclerosis Multiple Sclerosis GWAS
Associations from Text Mining
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