Gene Gene information from NCBI Gene database.
Entrez ID 50515
Gene name Carbohydrate sulfotransferase 11
Gene symbol CHST11
Synonyms (NCBI Gene)
C4STC4ST-1C4ST1HSA269537OCBMD
Chromosome 12
Chromosome location 12q23.3
Summary The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constit
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1566067709 TGAAGACCCTGAACC>- Uncertain-significance, pathogenic Coding sequence variant, inframe deletion
miRNA miRNA information provided by mirtarbase database.
209
miRTarBase ID miRNA Experiments Reference
MIRT002789 hsa-miR-1-3p Microarray 15685193
MIRT021157 hsa-miR-186-5p Sequencing 20371350
MIRT002789 hsa-miR-1-3p Microarray;Other 15685193
MIRT027800 hsa-miR-98-5p Microarray 19088304
MIRT606879 hsa-miR-6783-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0001537 Function Dermatan 4-sulfotransferase activity IDA 11056388
GO:0001701 Process In utero embryonic development IEA
GO:0002063 Process Chondrocyte development IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610128 17422 ENSG00000171310
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NPF2
Protein name Carbohydrate sulfotransferase 11 (EC 2.8.2.5) (Chondroitin 4-O-sulfotransferase 1) (Chondroitin 4-sulfotransferase 1) (C4S-1) (C4ST-1) (C4ST1)
Protein function Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03567 Sulfotransfer_2 108 344 Sulfotransferase family Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Highly expressed in spleen, thymus, bone marrow, peripheral blood leukocytes, lymph node, heart, brain, lung and placenta. {ECO:0000269|PubMed:10781601, ECO:0000269|PubMed:11056388}.
Sequence
Sequence length 352
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate   Chondroitin sulfate biosynthesis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
12
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Brachydactyly Conflicting classifications of pathogenicity rs1566067709 RCV000678393
Chondrodysplasia Conflicting classifications of pathogenicity rs1566067709 RCV000678393
CHST11-related disorder Conflicting classifications of pathogenicity; Likely benign rs148230565, rs200653714, rs143034625, rs150778990, rs138320785 RCV003901041
RCV003941857
RCV003931430
RCV003914762
RCV003947287
clino-symphalangism Conflicting classifications of pathogenicity rs1566067709 RCV000678393
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 25586191, 29183998
Carcinoma Hepatocellular Associate 36062845
Colitis Ulcerative Associate 39596612
Colorectal Neoplasms Associate 34294834
Endometrial Neoplasms Associate 27874289
Heart Failure Associate 37476628
Kashin Beck Disease Inhibit 28274888
Lupus Erythematosus Cutaneous Associate 21378287
Lymphoma Large B Cell Diffuse Associate 37076815
Neoplasm Metastasis Inhibit 36062845