Gene Gene information from NCBI Gene database.
Entrez ID 9469
Gene name Carbohydrate sulfotransferase 3
Gene symbol CHST3
Synonyms (NCBI Gene)
C6STC6ST1HSD
Chromosome 10
Chromosome location 10q22.1
Summary This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal
SNPs SNP information provided by dbSNP.
20
SNP ID Visualize variation Clinical significance Consequence
rs28937593 G>A Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs121908616 T>C Pathogenic Missense variant, coding sequence variant
rs121908617 C>A,T Pathogenic Synonymous variant, missense variant, coding sequence variant
rs121908618 T>C Pathogenic Missense variant, coding sequence variant
rs121908619 C>A,T Pathogenic Stop gained, synonymous variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
515
miRTarBase ID miRNA Experiments Reference
MIRT023379 hsa-miR-122-5p Microarray 17612493
MIRT027845 hsa-miR-98-5p Microarray 19088304
MIRT659521 hsa-miR-519d-5p HITS-CLIP 23824327
MIRT659519 hsa-miR-5695 HITS-CLIP 23824327
MIRT659520 hsa-miR-3663-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0001517 Function N-acetylglucosamine 6-O-sulfotransferase activity IBA
GO:0005794 Component Golgi apparatus IEA
GO:0005794 Component Golgi apparatus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603799 1971 ENSG00000122863
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7LGC8
Protein name Carbohydrate sulfotransferase 3 (EC 2.8.2.17) (EC 2.8.2.21) (Chondroitin 6-O-sulfotransferase 1) (C6ST-1) (Chondroitin 6-sulfotransferase) (C6ST) (Galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 0) (GST-0)
Protein function Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of the N-acetylgalactosamine (GalNAc) residue of chondroitin (PubMed:15215498, PubMed:9714738, PubMed:98838
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00685 Sulfotransfer_1 132 452 Sulfotransferase domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed in adult tissues. Expressed in heart, placenta, skeletal muscle and pancreas. Also expressed in various immune tissues such as spleen, lymph node, thymus and appendix. {ECO:0000269|PubMed:9714738}.
Sequence
Sequence length 479
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
Defective CHST3 causes SEDCJD
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
896
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Larsen syndrome Pathogenic rs1589510055 RCV000856732
Spondyloepiphyseal dysplasia with congenital joint dislocations Pathogenic; Likely pathogenic rs751470049, rs1003539672, rs2131776376, rs1564532377, rs2131774158, rs200988207, rs756133268, rs1840050989, rs2131776450, rs2131774841, rs1416637363, rs2131773933, rs1378815381, rs1216480002, rs746848315
View all (27 more)
RCV001342483
RCV001806424
RCV001999870
RCV001942043
RCV001972856
RCV001889907
RCV001985149
RCV001935370
RCV002007657
RCV002227900
RCV002227910
RCV002249362
RCV002272806
RCV002274275
RCV003062276
RCV002802025
RCV002893921
RCV000006413
RCV000006414
RCV000006415
RCV000006416
RCV000006417
RCV000006418
RCV000006419
RCV000006421
RCV000006422
RCV000006423
RCV003000103
RCV003002771
RCV000210956
RCV003111525
RCV003111526
RCV003983771
RCV003990081
RCV004018289
RCV000576230
RCV000550153
RCV000528005
RCV000626195
RCV000779033
RCV001028033
RCV001213781
RCV001228470
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CHST3-related disorder Likely benign; Conflicting classifications of pathogenicity rs2494770813, rs376107245, rs369055984 RCV003901409
RCV003913086
RCV003938446
Larsen-like syndrome, B3GAT3 type Benign; Likely benign rs115579748, rs77124584 RCV002485155
RCV002488043
Skeletal dysplasia Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance rs144287889, rs200249458, rs202242499, rs147804585, rs3740129, rs538907004, rs766145797, rs184330297, rs189173490, rs4148941, rs886047162, rs886047164, rs115617050, rs187692473, rs886047168
View all (127 more)
RCV000331444
RCV000271319
RCV000282169
RCV000281507
RCV000378701
RCV000314315
RCV000270679
RCV000293005
RCV000396843
RCV000274342
RCV000322503
RCV000295659
RCV000338969
RCV000397014
RCV000348288
RCV000301909
RCV000350226
RCV000290376
RCV000366854
RCV000269155
RCV000399197
RCV000320125
RCV000328493
RCV000285653
RCV000362904
RCV000322766
RCV000316899
RCV000309612
RCV000268194
RCV000316362
RCV000348363
RCV000293202
RCV000370401
RCV000352644
RCV000281430
RCV000263106
RCV000304537
RCV000265498
RCV000317897
RCV000402046
RCV000386934
RCV000400260
RCV000272819
RCV000322241
RCV000352703
RCV000398733
RCV000354504
RCV000286651
RCV000365445
RCV000346707
RCV000307071
RCV000367528
RCV000298967
RCV000362698
RCV000375155
RCV000303933
RCV000274227
RCV000285587
RCV000383468
RCV000325612
RCV000308510
RCV000395460
RCV000361298
RCV000281867
RCV000394205
RCV000277899
RCV000334855
RCV000259585
RCV000339417
RCV000349883
RCV000361117
RCV000287614
RCV000376236
RCV000344900
RCV000352682
RCV000404109
RCV000399138
RCV000310437
RCV000350278
RCV000390168
RCV000269811
RCV000317651
RCV000344330
RCV000384562
RCV000335240
RCV000265466
RCV000347579
RCV000397764
RCV000402223
RCV000307906
RCV000319737
RCV000342116
RCV000338125
RCV000349982
RCV000346599
RCV000353753
RCV000366963
RCV000287484
RCV000394345
RCV000284122
RCV000314215
RCV000293058
RCV000306489
RCV000381339
RCV000306223
RCV000327039
RCV000318192
RCV000339345
RCV000403876
RCV000285109
RCV000299800
RCV000326343
RCV000279348
RCV000388673
RCV000356106
RCV000331566
RCV000401498
RCV000314473
RCV000359859
RCV000353651
RCV000385090
RCV000283525
RCV000383875
RCV000354014
RCV000296431
RCV000267573
RCV000295614
RCV000370895
RCV000350467
RCV000293576
RCV000394342
RCV000376357
RCV000372109
RCV000386961
RCV000302743
RCV000310709
RCV000262991
RCV000297233
RCV000275845
RCV000397833
RCV000331224
RCV000350295
RCV000384029
Spondyloepiphyseal dysplasia congenita Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance rs144287889, rs200249458, rs202242499, rs147804585, rs3740129, rs538907004, rs766145797, rs184330297, rs189173490, rs4148941, rs886047162, rs886047164, rs115617050, rs187692473, rs886047168
View all (127 more)
RCV000366162
RCV000365944
RCV000337241
RCV000397454
RCV000287863
RCV000275551
RCV000362849
RCV000296418
RCV000338628
RCV000314214
RCV000265095
RCV000317256
RCV000327083
RCV000281547
RCV000395531
RCV000360119
RCV000292986
RCV000325618
RCV000400871
RCV000328838
RCV000366461
RCV000294380
RCV000381955
RCV000395807
RCV000308187
RCV000265306
RCV000278037
RCV000395653
RCV000395650
RCV000262524
RCV000335472
RCV000320072
RCV000306441
RCV000294278
RCV000402515
RCV000285519
RCV000361562
RCV000357852
RCV000321314
RCV000288758
RCV000383546
RCV000307475
RCV000385924
RCV000267045
RCV000399744
RCV000400785
RCV000333672
RCV000290149
RCV000270927
RCV000312843
RCV000267046
RCV000276550
RCV000399162
RCV000271692
RCV000318256
RCV000339038
RCV000388579
RCV000320549
RCV000284374
RCV000312687
RCV000321323
RCV000357611
RCV000304292
RCV000404336
RCV000297009
RCV000363106
RCV000286195
RCV000378638
RCV000290293
RCV000395543
RCV000321642
RCV000382029
RCV000283944
RCV000401900
RCV000295439
RCV000385423
RCV000307004
RCV000393516
RCV000353671
RCV000336768
RCV000309616
RCV000262596
RCV000289384
RCV000330074
RCV000295517
RCV000357882
RCV000386974
RCV000307743
RCV000303443
RCV000309094
RCV000261025
RCV000286973
RCV000397065
RCV000405841
RCV000302226
RCV000343193
RCV000312295
RCV000291076
RCV000263280
RCV000341502
RCV000398008
RCV000337570
RCV000402600
RCV000295062
RCV000360925
RCV000363073
RCV000342589
RCV000403979
RCV000305301
RCV000377292
RCV000261024
RCV000268996
RCV000294538
RCV000316546
RCV000393600
RCV000276549
RCV000339457
RCV000274955
RCV000321264
RCV000400461
RCV000275439
RCV000323430
RCV000344547
RCV000263787
RCV000351318
RCV000259294
RCV000389670
RCV000311615
RCV000390597
RCV000332075
RCV000304251
RCV000271392
RCV000266948
RCV000330147
RCV000357570
RCV000346802
RCV000318114
RCV000300758
RCV000385513
RCV000313855
RCV000355694
RCV000311816
RCV000265056
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Achondroplasia Associate 30200136
Back Pain Associate 30747904
Bronchopulmonary Dysplasia Associate 34465876
Carcinoma Hepatocellular Associate 34258170
Cartilage Diseases Associate 36010590
Clubfoot Associate 26572954
Contracture Associate 26572954
COVID 19 Associate 36405703
Desbuquois syndrome Associate 22539336
Disseminated Intravascular Coagulation Associate 30200136