Gene Gene information from NCBI Gene database.
Entrez ID 79586
Gene name Chondroitin polymerizing factor
Gene symbol CHPF
Synonyms (NCBI Gene)
CHPF1CHSY2CSS2
Chromosome 2
Chromosome location 2q35
miRNA miRNA information provided by mirtarbase database.
166
miRTarBase ID miRNA Experiments Reference
MIRT019908 hsa-miR-375 Microarray 20215506
MIRT029890 hsa-miR-26b-5p Microarray 19088304
MIRT046494 hsa-miR-15b-5p CLASH 23622248
MIRT891344 hsa-miR-1207-5p CLIP-seq
MIRT891345 hsa-miR-1275 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0005515 Function Protein binding IPI 22082830
GO:0005737 Component Cytoplasm IEA
GO:0005739 Component Mitochondrion IEA
GO:0005759 Component Mitochondrial matrix IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610405 24291 ENSG00000123989
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IZ52
Protein name Chondroitin sulfate synthase 2 (EC 2.4.1.175) (EC 2.4.1.226) (Chondroitin glucuronyltransferase 2) (Chondroitin-polymerizing factor) (ChPF) (Glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase II) (N-acetylgalactosami
Protein function Has both beta-1,3-glucuronic acid and beta-1,4-N-acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of the elongating chondroitin
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05679 CHGN 262 762 Chondroitin N-acetylgalactosaminyltransferase Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Highly expressed in pancreas, ovary, brain, heart, skeletal muscle, colon, kidney, liver, stomach, spleen and placenta. {ECO:0000269|PubMed:12716890, ECO:0000269|PubMed:12761225}.; TISSUE SPECIFICITY: [Isoform 2]: Expressed
Sequence
Sequence length 775
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
HYPERTROPHIC CARDIOMYOPATHY 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
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 30826152
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 21468578
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Ataxia telangiectasia Pubtator 32612115 Stimulate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 33301643 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 34564711 Associate
★☆☆☆☆
Found in Text Mining only
Depressive disorder Mental Depression BEFREE 30980258
★☆☆☆☆
Found in Text Mining only
Dyslipidemias Dyslipidemias BEFREE 30096295
★☆☆☆☆
Found in Text Mining only
Endometriosis Endometriosis Pubtator 36930359 Associate
★☆☆☆☆
Found in Text Mining only
Febrile Convulsions Febrile seizures BEFREE 27690330
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 40348204 Associate
★☆☆☆☆
Found in Text Mining only