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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
18
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
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BONE REMODELING DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Brachydactyly Conflicting classifications of pathogenicity ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
B-CELL MALIGNANCY, LOW-GRADE Lymphocytic Leukemia BEFREE 15273723
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Barrett esophagus BEFREE 21378287
★☆☆☆☆
Found in Text Mining only
Brachydactyly Brachydactyly HPO_DG
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Breast Carcinoma Breast Carcinoma BEFREE 21658254, 25586191
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 25586191, 29183998 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 36062845 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 26084610
★☆☆☆☆
Found in Text Mining only
Childhood Ataxia with Central Nervous System Hypomyelinization Leukoencephalopathy with vanishing white matter BEFREE 21378287
★☆☆☆☆
Found in Text Mining only
Chronic Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 15273723
★☆☆☆☆
Found in Text Mining only
Colitis Ulcerative Ulcerative colitis Pubtator 39596612 Associate
★☆☆☆☆
Found in Text Mining only