CSGALNACT2 (chondroitin sulfate N-acetylgalactosaminyltransferase 2)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 55454 |
| Gene name | Chondroitin sulfate N-acetylgalactosaminyltransferase 2 |
| Gene symbol | CSGALNACT2 |
| Synonyms (NCBI Gene) |
CHGN2ChGn-2GALNACT-2GALNACT2PRO0082beta4GalNAcT
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| 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 |
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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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
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| Tissue specificity | TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:12433924, ECO:0000269|PubMed:12446672}. | ||||||||||
| Sequence | |||||||||||
| Sequence length | 542 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
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Related Genes
Genes most often co-reported with CSGALNACT2 across shared curated disease and pathway associations.
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Diseases Linked via Similar Genes
Diseases curated for genes most similar to CSGALNACT2 (see Related Genes above), that are NOT already directly curated for CSGALNACT2 itself -- a lead worth checking, not a confirmed association.
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