Gene Gene information from NCBI Gene database.
Entrez ID 54480
Gene name Chondroitin polymerizing factor 2
Gene symbol CHPF2
Synonyms (NCBI Gene)
CSGLCA-TCSGlcATChSy-3chPF-2
Chromosome 7
Chromosome location 7q36.1
miRNA miRNA information provided by mirtarbase database.
15
miRTarBase ID miRNA Experiments Reference
MIRT005223 hsa-let-7b-5p pSILAC 18668040
MIRT027616 hsa-miR-98-5p Microarray 19088304
MIRT005223 hsa-let-7b-5p Proteomics 18668040
MIRT047492 hsa-miR-10b-5p CLASH 23622248
MIRT045967 hsa-miR-125b-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0005794 Component Golgi apparatus IEA
GO:0005794 Component Golgi apparatus IEA
GO:0008376 Function Acetylgalactosaminyltransferase activity IEA
GO:0016020 Component Membrane HDA 19946888
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608037 29270 ENSG00000033100
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9P2E5
Protein name Chondroitin sulfate glucuronyltransferase (EC 2.4.1.226) (CSGlcA-T) (Chondroitin glucuronyltransferase) (Chondroitin polymerizing factor 2) (ChPF-2) (Chondroitin synthase 3) (ChSy-3) (N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase)
Protein function Transfers glucuronic acid (GlcUA) from UDP-GlcUA to N-acetylgalactosamine residues on the non-reducing end of the elongating chondroitin polymer. Has no N-acetylgalactosaminyltransferase activity. {ECO:0000269|PubMed:12145278, ECO:0000269|PubMed
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05679 CHGN 242 759 Chondroitin N-acetylgalactosaminyltransferase Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Highly expressed in placenta, small intestine and pancreas. {ECO:0000269|PubMed:12145278}.
Sequence
Sequence length 772
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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
MULTIPLE MYELOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Colorectal Carcinoma Colorectal Cancer BEFREE 21468578
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 21468578
★☆☆☆☆
Found in Text Mining only
Osteosarcoma Osteosarcoma Pubtator 40321814 Associate
★☆☆☆☆
Found in Text Mining only