Aliases for CHST3 Gene
Aliases for CHST3 Gene
External Ids for CHST3 Gene
- HGNC: 1971
- Entrez Gene: 9469
- Ensembl: ENSG00000122863
- OMIM: 603799
- UniProtKB: Q7LGC8
Previous GeneCards Identifiers for CHST3 Gene
- GC10P072502
- GC10P072827
- GC10P073616
- GC10P073068
- GC10P073394
- GC10P073724
- GC10P067718
Summaries for CHST3 Gene
-
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 dysplasia and humerospinal dysostosis. [provided by RefSeq, Mar 2009]
GeneCards Summary for CHST3 Gene
CHST3 (Carbohydrate Sulfotransferase 3) is a Protein Coding gene. Diseases associated with CHST3 include Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations and Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects. Among its related pathways are Glycosaminoglycan metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include sulfotransferase activity and chondroitin 6-sulfotransferase activity. An important paralog of this gene is CHST1.
UniProtKB/Swiss-Prot for CHST3 Gene
-
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. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. Can also sulfate Gal residues of keratan sulfate, another glycosaminoglycan, and the Gal residues in sialyl N-acetyllactosamine (sialyl LacNAc) oligosaccharides. May play a role in the maintenance of naive T-lymphocytes in the spleen.
Additional gene information for CHST3 Gene
- Monarch Initiative
- Search for CHST3 at DataMed
- Search for CHST3 at HumanCyc
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHST3 Gene
Genomics for CHST3 Gene
GeneHancer (GH) Regulatory Elements for CHST3 Gene
Promoters and enhancers for CHST3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around CHST3 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CHST3 gene promoter:
Regulatory Element Products
Genomic Locations for CHST3 Gene
Genomic Locations for CHST3 Gene
- chr10:71,964,362-72,013,564
- (GRCh38/hg38)
- Size:
- 49,203 bases
- Orientation:
- Plus strand
- chr10:73,724,120-73,773,322
- (GRCh37/hg19)
Genomic View for CHST3 Gene
Genes around CHST3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 10q22.1 by Ensembl
- 10q22.1 by Entrez Gene
- 10q22.1 by HGNC
CHST3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CHST3 Gene
Proteins for CHST3 Gene
-
Protein details for CHST3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q7LGC8-CHST3_HUMAN
- Recommended name:
- Carbohydrate sulfotransferase 3
- Protein Accession:
- Q7LGC8
- O75099
- Q52M30
Protein attributes for CHST3 Gene
- Size:
- 479 amino acids
- Molecular mass:
- 54706 Da
- Quaternary structure:
- No Data Available
Protein Expression for CHST3 Gene
Selected DME Specific Peptides for CHST3 Gene
- Q7LGC8:
-
- EVQRLRGNCE
- YMLVRYED
- LLMATTRTGSSFVGEFFNQ
- SSEQFEKWR
- GSALVYRDVL
- LVRDPRAV
- IFYLFEPLWH
Post-translational modifications for CHST3 Gene
- Glycosylation at posLast=6363, Asn74, Asn96, Asn256, posLast=420420, and posLast=464464
Other Protein References for CHST3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for CHST3 (Carbohydrate Sulfotransferase 3/CHST3)
-
Custom Antibody ServicesOriGene Antibodies for CHST3
- Novus Biologicals Antibodies for CHST3
-
Abcam antibodies for CHST3
- Invitrogen Antibodies for CHST3
- Search GeneTex for Antibodies for CHST3
-
Santa Cruz Biotechnology (SCBT) Antibodies for CHST3
- Sino Biological Antibodies for CHST3
Protein Products
- R&D Systems Proteins and Enzymes for CHST3 (Carbohydrate Sulfotransferase 3/CHST3)
-
OriGene Purified Proteins for CHST3
- Search Origene for MassSpec and Protein Over-expression Lysates for CHST3
- Origene Custom Protein Services for CHST3
- Sino Biological Cell Lysates for CHST3
- Sino Biological Recombinant Proteins for CHST3
- Search GeneTex for Proteins for CHST3
-
Abcam proteins for CHST3
Assay Products
- antibodies-online: Search results for 2 available CHST3 Elisa Kits ranked by validation data
- Compare Top CHST3 Elisa Kits
-
Recommended
Domains & Families for CHST3 Gene
Gene Families for CHST3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted membrane proteins
Protein Domains for CHST3 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for CHST3 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q7LGC8UniProtKB/Swiss-Prot:
CHST3_HUMAN :- Belongs to the sulfotransferase 1 family. Gal/GlcNAc/GalNAc subfamily.
- Family:
-
- Belongs to the sulfotransferase 1 family. Gal/GlcNAc/GalNAc subfamily.
Function for CHST3 Gene
Molecular function for CHST3 Gene
- UniProtKB/Swiss-Prot CatalyticActivity:
- 3-phosphoadenylyl sulfate + chondroitin = adenosine 3,5-bisphosphate + chondroitin 6-sulfate.
- UniProtKB/Swiss-Prot 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. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. Can also sulfate Gal residues of keratan sulfate, another glycosaminoglycan, and the Gal residues in sialyl N-acetyllactosamine (sialyl LacNAc) oligosaccharides. May play a role in the maintenance of naive T-lymphocytes in the spleen.
Enzyme Numbers (IUBMB) for CHST3 Gene
Phenotypes From GWAS Catalog for CHST3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001517 | N-acetylglucosamine 6-O-sulfotransferase activity | IBA | -- |
| GO:0008146 | sulfotransferase activity | TAS | 9883891 |
| GO:0008459 | chondroitin 6-sulfotransferase activity | TAS | -- |
| GO:0016740 | transferase activity | IEA | -- |
Phenotypes for CHST3 Gene
- MGI mutant phenotypes for CHST3:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for CHST3:
-
- Increased viability
- Increased vaccinia virus (VACV) infection
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Decreased NF-kappaB reporter expression
- Decreased viability after sindbis virus (SIN) dsTE12Q infection
- Decreased mitophagy mCherry-Parkin protein expression after carbonyl cyanide m-chlorphenylhydrazone (CCCP) stimulation
- Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CHST3
-
-
ViGene Biosciences lentiviral particle packaged cDNA for CHST3 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CHST3 gene
- Search ViGene Biosciences for CHST3
CRISPR Products
-
OriGene CRISPR knockouts for CHST3
- genomics-online: gRNA clones - Search results for available CHST3 gene related products
- Applied Biological Materials CRISPR for CHST3
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CHST3
- GenScript: Design CRISPR guide RNA sequences for CHST3
miRNA for CHST3 Gene
- miRTarBase miRNAs that target CHST3
-
- hsa-mir-122-5p (MIRT023379)
- hsa-mir-98-5p (MIRT027845)
- hsa-mir-6848-3p (MIRT659508)
- hsa-mir-6843-3p (MIRT659509)
- hsa-mir-3620-5p (MIRT659510)
- hsa-mir-4674 (MIRT659511)
- hsa-mir-1587 (MIRT659512)
- hsa-mir-519e-5p (MIRT659513)
- hsa-mir-515-5p (MIRT659514)
- hsa-mir-4437 (MIRT659515)
- hsa-mir-6131 (MIRT659516)
- hsa-mir-6774-5p (MIRT659517)
- hsa-mir-635 (MIRT659518)
- hsa-mir-5695 (MIRT659519)
- hsa-mir-3663-5p (MIRT659520)
- hsa-mir-519d-5p (MIRT659521)
miRNA Products
- Search ViGene Biosciences for CHST3
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CHST3
- Browse OriGene Inhibitory RNA Products For CHST3
- genomics-online: shRNA clones - Search results for available CHST3 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for CHST3 gene
Clone Products
- Sino Biological Human cDNA Clone for CHST3
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CHST3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CHST3
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available CHST3 gene related products
- orf clones - Search results for available CHST3 gene related products
- Applied Biological Materials Clones for CHST3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for CHST3
-
ViGene Biosciences adenoviral particle packaged cDNA for CHST3 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for CHST3 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CHST3 gene
No data available for Transcription Factor Targets and HOMER Transcription for CHST3 Gene
Localization for CHST3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CHST3 Gene
- Golgi apparatus membrane; Single-pass type II membrane protein.
| Compartment | Confidence |
|---|---|
| golgi apparatus | 5 |
| cytosol | 3 |
| extracellular | 2 |
| plasma membrane | 1 |
| mitochondrion | 1 |
| nucleus | 1 |
- Cytosol (2)
- Golgi apparatus (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | TAS | -- |
| GO:0005794 | Golgi apparatus | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IBA | -- |
Pathways & Interactions for CHST3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Glycosaminoglycan metabolism | ||
| 2 | Chondroitin sulfate/dermatan sulfate metabolism | ||
| 3 | Articular Cartilage Extracellular Matrix Pathway | ||
| 4 | Metabolism |
.37
|
|
| 5 | Cytochrome P450 - arranged by substrate type | ||
Pathways by source for CHST3 Gene
3 BioSystems pathways for CHST3 Gene
5 Reactome pathways for CHST3 Gene
1 KEGG pathway for CHST3 Gene
1 R&D Systems pathway for CHST3 Gene
Interacting Proteins for CHST3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005975 | carbohydrate metabolic process | IEA | -- |
| GO:0006790 | sulfur compound metabolic process | IDA | 9883891 |
| GO:0030206 | chondroitin sulfate biosynthetic process | TAS,IDA | -- |
No data available for SIGNOR curated interactions for CHST3 Gene
Drugs & Compounds for CHST3 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Docetaxel | Approved May 1996, Investigational | Pharma | Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes | 2040 | ||
| Thalidomide | Approved, Investigational, Withdrawn | Pharma | Immunomodulatory agent,sedative drug,angiogenesis inhibitor, TNF-alpha synthesis inhibitor, Immunomodulatory agents | 1195 | ||
| Chondroitin | Nutra | 48 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Adenosine 3',5'-diphosphate |
|
1053-73-2 |
|
|||
| Chondroitin 6'-sulfate |
|
|
|
|||
| Keratan |
|
69992-87-6 |
|
|||
| n-acetyllactosamine |
|
32181-59-2 |
|
|||
| Phosphoadenosine phosphosulfate |
|
482-67-7 |
|
Transcripts for CHST3 Gene
mRNA/cDNA for CHST3 Gene
- (3) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (126) Selected AceView cDNA sequences:
- (1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for CHST3 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CHST3
- genomics-online: gRNA clones - Search results for available CHST3 gene related products
- Applied Biological Materials CRISPR for CHST3
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CHST3
- GenScript: Design CRISPR guide RNA sequences for CHST3
miRNA Products
- Search ViGene Biosciences for CHST3
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CHST3
- Browse OriGene Inhibitory RNA Products For CHST3
- genomics-online: shRNA clones - Search results for available CHST3 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for CHST3 gene
Clone Products
- Sino Biological Human cDNA Clone for CHST3
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CHST3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CHST3
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available CHST3 gene related products
- orf clones - Search results for available CHST3 gene related products
- Applied Biological Materials Clones for CHST3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for CHST3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Heart (Cardiovascular System)
- Atrioventricular Node Cells Atrioventricular Node
- Atrioventricular Canal Cells Atrioventricular Canal
-
Epidermis (Integumentary System)
- Basal Keratinocytes Embryonic Epidermis
-
Epithelial Cells
- Basal Keratinocytes Embryonic Epidermis
-
Hair
- Basal Keratinocytes Embryonic Epidermis
-
Liver (Hepatobiliary System)
This gene is overexpressed in Monocytes (25.9), Colon muscle (17.2), Testis (14.5), and Platelet (11.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CHST3 Gene
NURSA nuclear receptor signaling pathways regulating expression of CHST3 Gene:
CHST3SOURCE GeneReport for Unigene cluster for CHST3 Gene:
Hs.158304mRNA Expression by UniProt/SwissProt for CHST3 Gene:
Q7LGC8-CHST3_HUMAN
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.
Evidence on tissue expression from TISSUES for CHST3 Gene
- Nervous system(4.6)
- Liver(4.5)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CHST3 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- integumentary
- nervous
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- ear
- eye
- head
- jaw
- mandible
- maxilla
- mouth
- neck
- outer ear
- skull
- tooth
Thorax:
- aorta
- breast
- chest wall
- clavicle
- heart
- heart valve
- lung
- rib
- rib cage
- scapula
- sternum
Pelvis:
- pelvis
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for CHST3
- genomics-online: primer clones - Search results for available CHST3 gene related products
No data available for mRNA differential expression in normal tissues for CHST3 Gene
Orthologs for CHST3 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CHST3 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | CHST3 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | CHST3 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Chst3 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CHST3 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Chst3 33 16 34 |
|
||
| chicken (Gallus gallus) |
Aves | CHST3 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | CHST3 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | chst3 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | chst3b 33 34 |
|
||
| chst3a 34 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | CG9550 34 |
|
ManyToMany | |
| CG31637 34 |
|
ManyToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
ManyToMany | |
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| CSA.5535 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany |
- Species where no ortholog for CHST3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for CHST3 Gene
Variants for CHST3 Gene
| SNP ID | Clin | Chr 10 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1006427623 | uncertain-significance, Spondyloepiphyseal dysplasia, Larsen syndrome, Skeletal dysplasia, Spondyloepiphyseal dysplasia with congenital joint dislocations | 72,009,562(+) | G/T | 3_prime_UTR_variant | |
| rs113283291 | likely-benign, Skeletal dysplasia, Spondyloepiphyseal dysplasia, Larsen syndrome, Spondyloepiphyseal dysplasia with congenital joint dislocations | 72,008,954(+) | G/A | 3_prime_UTR_variant | |
| rs113342172 | likely-benign, Spondyloepiphyseal dysplasia, Larsen syndrome, Skeletal dysplasia, Spondyloepiphyseal dysplasia with congenital joint dislocations | 72,012,137(+) | G/A | 3_prime_UTR_variant | |
| rs114457501 | likely-benign, Spondyloepiphyseal dysplasia, Larsen syndrome, Spondyloepiphyseal dysplasia with congenital joint dislocations, Skeletal dysplasia | 72,011,297(+) | G/A | 3_prime_UTR_variant | |
| rs114563668 | likely-benign, Spondyloepiphyseal dysplasia, Larsen syndrome, Skeletal dysplasia, Spondyloepiphyseal dysplasia with congenital joint dislocations | 72,010,634(+) | A/G/T | 3_prime_UTR_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv820285 | CNV | loss | 19587683 |
| nsv7110 | CNV | insertion | 18451855 |
| nsv551512 | CNV | loss | 21841781 |
| nsv551509 | CNV | loss | 21841781 |
| nsv1122538 | CNV | deletion | 24896259 |
| esv3623787 | CNV | loss | 21293372 |
| dgv1263n54 | CNV | loss | 21841781 |
Residual Variation Intolerance Score:
31.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
8.06;
84.35% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CHST3 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHST3 Gene
Disorders for CHST3 Gene
(8) MalaCards diseases for CHST3 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spondyloepiphyseal dysplasia with congenital joint dislocations |
|
|
| multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects |
|
|
| larsen syndrome |
|
|
| clubfoot |
|
|
| dysostosis |
|
|
Search CHST3 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CHST3_HUMAN- Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD) [MIM:143095]: A bone dysplasia clinically characterized by dislocation of the knees and/or hips at birth, clubfoot, elbow joint dysplasia with subluxation and limited extension, short stature, and progressive kyphosis developing in late childhood. The disorder is usually evident at birth, with short stature and multiple joint dislocations or subluxations that dominate the neonatal clinical and radiographic picture. During childhood, the dislocations improve, both spontaneously and with surgical treatment, and features of spondyloepiphyseal dysplasia become apparent, leading to arthritis of the hips and spine with intervertebral disk degeneration, rigid kyphoscoliosis, and trunk shortening by late childhood. {ECO:0000269 PubMed:15215498, ECO:0000269 PubMed:18513679}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for CHST3
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for CHST3 Gene
Publications for CHST3 Gene
- Molecular cloning and expression of human chondroitin 6-sulfotransferase. (PMID: 9714738) Fukuta M … Habuchi O (Biochimica et biophysica acta 1998) 2 3 4 22 58
- Functional expression and genomic structure of human chondroitin 6-sulfotransferase. (PMID: 9883891) Tsutsumi K … Sugahara K (FEBS letters 1998) 2 3 4 22 58
- Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. (PMID: 18513679) Hermanns P … Superti-Furga A (American journal of human genetics 2008) 3 4 22 58
- Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. (PMID: 15215498) Thiele H … Mundlos S (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4 22 58
- Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PMID: 19343046) Saito A … Kamatani N (Journal of human genetics 2009) 3 44 58
Products for CHST3 Gene
- R&D Systems Antibodies for CHST3 (Carbohydrate Sulfotransferase 3/CHST3)
- R&D Systems Proteins and Enzymes for CHST3 (Carbohydrate Sulfotransferase 3/CHST3)
- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
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- Browse Proteome Profiler Antibody Arrays
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- Custom Antibody ServicesOriGene Antibodies for CHST3
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- GenScript: Design CRISPR guide RNA sequences for CHST3
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- CloneReady with Over 120,000 Genes
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- Browse Primary Antibodies
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- Invitrogen Antibodies for CHST3
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Cyagen custom Knockout/knockin (KOKI) mouse models for CHST3
- VectorBuilder custom plasmid, inducible vectors for CHST3
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- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
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- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 45 available CHST3 Antibodies ranked by validation data
- Compare Top CHST3 Antibodies
- antibodies-online: Search results for 2 available CHST3 Elisa Kits ranked by validation data
- Compare Top CHST3 Elisa Kits
- Recommended
- antibodies-online: Search results for 7 available CHST3 Proteins ranked by validation data
- Compare Top CHST3 Proteins
- Search GeneTex for Antibodies for CHST3
- Search GeneTex for Proteins for CHST3
- ViGene Biosciences adenoviral particle packaged cDNA for CHST3 gene
- ViGene Biosciences lentiviral particle packaged cDNA for CHST3 gene
- ViGene Biosciences ready-to-package AAV shRNAs for CHST3 gene
- Search ViGene Biosciences for CHST3
- Santa Cruz Biotechnology (SCBT) Antibodies for CHST3
- Search Santa Cruz Biotechnology (SCBT) for CHST3 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for CHST3
- Horizon Cell Lines for CHST3
- genomics-online: cdna clones - Search results for available CHST3 gene related products
- orf clones - Search results for available CHST3 gene related products
- genomics-online: gRNA clones - Search results for available CHST3 gene related products
- genomics-online: primer clones - Search results for available CHST3 gene related products
- genomics-online: shRNA clones - Search results for available CHST3 gene related products
Sources for CHST3 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
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- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew