CSGALNACT2 chondroitin sulfate N-acetylgalactosaminyltransferase 2
Gene ID: 55454, updated on 28-Oct-2024Gene type: protein coding
Also known as: CHGN2; ChGn-2; PRO0082; GALNACT2; GALNACT-2; beta4GalNAcT
- See all available tests in GTR for this gene
- Go to complete Gene record for CSGALNACT2
- Go to Variation Viewer for CSGALNACT2 variants
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 related pseudogenes have been identified on chromosome X. [provided by RefSeq, Feb 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies potential susceptibility Loci for hirschsprung disease. GeneReviews: Not available | |
| Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease. GeneReviews: Not available |
Genomic context
- Location:
- 10q11.21
- Sequence:
- Chromosome: 10; NC_000010.11 (43138445..43185308)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CSGALNACT2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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