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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CHST3 Gene

protein-coding GIFtS: 57
GCID: GC10P073724

carbohydrate (chondroitin 6) sulfotransferase 3

Explore 15 diseases affiliated with
CHST3 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Carbohydrate (Chondroitin 6) Sulfotransferase 3¹ ²		GST-0² ³
C6ST¹ ² ⁵		EC 2.8.2.17³ ⁸
C6ST1¹ ² ⁵		HSD² ⁵
Chondroitin 6-O-Sulfotransferase 1² ³		Carbohydrate Sulfotransferase 3²
Galactose/N-Acetylglucosamine/N-Acetylglucosamine 6-O-Sulfotransferase 0² ³		Chondroitin 6-Sulfotransferase³
C6ST-1² ³		EC 2.8.2⁸

External Ids:	HGNC: 1971¹	Entrez Gene: 9469²	Ensembl: ENSG00000122863⁷	OMIM: 603799⁵	UniProtKB: Q7LGC8³

Export aliases for CHST3 gene to outside databases

Previous GC identifers: GC10P072502 GC10P072827 GC10P073616 GC10P073068 GC10P073394 GC10P067718

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CHST3:

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)

UniProtKB/Swiss-Prot: CHST3_HUMAN, Q7LGC8

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

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000010.10 NC_018921.1 NT_030059.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CHST3 gene promoter:
E2F-2 RelA HNF-4alpha2 HNF-3beta HNF-4alpha1 E2F E2F-1 Sox9 STAT3 SEF-1 (1)
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CHST3 promoter sequence

Search SABiosciences Chromatin IP Primers for CHST3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHST3

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q22.1 Ensembl cytogenetic band: 10q22.1 HGNC cytogenetic band: 10q22.1

CHST3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHST3 gene location

GeneLoc information about chromosome 10 GeneLoc Exon Structure

GeneLoc location for GC10P073724: view genomic region (about GC identifiers)

Start:	73,724,120 bp from pter	End:	73,773,322 bp from pter
Size:	49,203 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CHST3_HUMAN, Q7LGC8 (See protein sequence)

Recommended Name: Carbohydrate sulfotransferase 3

Size: 479 amino acids; 54706 Da

Subcellular location: Golgi apparatus membrane; Single-pass type II membrane protein (By similarity)

Secondary accessions: O75099 Q52M30

Explore the universe of human proteins at neXtProt for CHST3: NX_Q7LGC8

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q7LGC8

4/7 DME Specific Peptides for CHST3 (Q7LGC8) (see all 7)

LVRDPRAV

YMLVRYED

SSEQFEKWR

GSALVYRDVL

CHST3 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_004264.2

ENSEMBL proteins:

ENSP00000362207

Reactome Protein details: Q7LGC8
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	Novus Biologicals CHST3 Protein Novus Biologicals CHST3 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for CHST3

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000139	Golgi membrane	TAS	--
GO:0016021	integral to membrane	IEA	--

CHST3 for ontologies About GeneDecksing

CHST3 Antibody Products:

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	GenScript Custom Superior Antibodies Services for CHST3
	Novus Biologicals CHST3 Antibodies
	Search for Antibodies for CHST3 at Abcam
	Uscn Antibodies for CHST3
	ThermoFisher Antibodies for CHST3

Assay Products for CHST3:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
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	GenScript Custom Assay Services for CHST3
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for CHST3

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CHST3 for domains About GeneDecksing

2 InterPro domains/families:

IPR016469 Carbohydrate_sulfotransferase

IPR000863 Sulfotransferase_dom

Graphical View of Domain Structure for InterPro Entry Q7LGC8

ProtoNet protein and cluster: Q7LGC8

UniProtKB/Swiss-Prot: CHST3_HUMAN, Q7LGC8

Similarity: Belongs to the sulfotransferase 1 family. Gal/GlcNAc/GalNAc subfamily

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: CHST3_HUMAN, Q7LGC8

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

Catalytic activity: 3'-phosphoadenylyl sulfate + chondroitin = adenosine 3',5'-bisphosphate + chondroitin 6'-sulfate

Enzyme Numbers (IUBMB): EC 2.8.2.17¹ ² EC 2.8.2²

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CHST3
		8/57 QIAGEN miScript miRNA Assays for microRNAs that regulate CHST3 (see all 57):
		hsa-miR-4291 hsa-miR-607 hsa-miR-330-5p hsa-let-7d hsa-miR-1304 hsa-let-7g hsa-miR-1276 hsa-miR-629*

		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CHST3 (see all 7) OriGene shRNA RFP: CHST3 OriGene siRNA: CHST3
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CHST3

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for CHST3

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		GenScript: all cDNA clones in your preferred vector: CHST3 (NM_004273)
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for CHST3
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHST3

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for CHST3
		Search LifeMap BioReagents cell lines for CHST3

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHST3

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008146	sulfotransferase activity	TAS	9883891
GO:0008459	chondroitin 6-sulfotransferase activity	IDA	9883891
GO:0050698	proteoglycan sulfotransferase activity	IEA	--

CHST3 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Chst3^tm1Tmu for CHST3
     4 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Chst3):

behavior/neurological

hematopoietic system

immune system

nervous system

CHST3 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

MPS IIIC - Sanfilippo syndrome C

8/14 pathways (see all 14)
MPS IIIC - Sanfilippo syndrome C	1.00	MPS IIIA - Sanfilippo syndrome A	1.00
MPS I - Hurler syndrome	1.00	MPS IIID - Sanfilippo syndrome D	1.00
Mucopolysaccharidoses	1.00	MPS IX - Natowicz syndrome	1.00
MPS IV - Morquio syndrome A	1.00	MPS II - Hunter syndrome	1.00

dermatan sulfate biosynthesis

	Glycosaminoglycan biosynthesis - chondroitin sulfate	0.73			chondroitin sulfate biosynthesis (late stages)	0.32
	chondroitin sulfate biosynthesis	0.64			Chondroitin sulfate biosynthesis	0.24

Disease

Disease

1.00

Metabolism

Metabolism

1.00

Articular Cartilage Extracellular Matrix

Articular Cartilage Extracellular Matrix

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 R&D Systems Pathway for CHST3

Articular Cartilage Extracellular Matrix

3 BioSystems Pathways for CHST3

	chondroitin sulfate biosynthesis (late stages)
	metapathway biotransformation
	chondroitin sulfate biosynthesis

5/18 Reactome Pathways for CHST3 (see all 18)

	Chondroitin sulfate/dermatan sulfate metabolism
	MPS VI - Maroteaux-Lamy syndrome
	Metabolism
	Disease
	MPS II - Hunter syndrome

1 Kegg Pathway (Kegg details for CHST3):

Glycosaminoglycan biosynthesis - chondroitin sulfate

CHST3 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for CHST3

STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

5/16 Interacting proteins for CHST3 (ENSP00000362207⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 16)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
BGN	ENSP00000327336⁴	STRING: ENSP00000327336
CHPF	ENSP00000243776⁴	STRING: ENSP00000243776
CHST11	ENSP00000305725⁴	STRING: ENSP00000305725
CHST12	ENSP00000258711⁴	STRING: ENSP00000258711
CHST13	ENSP00000317404⁴	STRING: ENSP00000317404

About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005975	carbohydrate metabolic process	TAS	--
GO:0006790	sulfur compound metabolic process	IDA	9883891
GO:0014012	peripheral nervous system axon regeneration	--	--
GO:0030203	glycosaminoglycan metabolic process	TAS	--
GO:0030204	chondroitin sulfate metabolic process	TAS	--

CHST3 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CHST3 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CHST3

5 HMDB Compounds for CHST3 About this table

Compound	Synonyms	CAS #	PubMed Ids
Adenosine 3',5'-diphosphate	3,5-Diphosphoadenosine (see all 10)	1053-73-2	--
Chondroitin	Chondroitin-D-glucuronate (see all 5)	9007-27-6	--
Keratan	Kerato sulfate (see all 4)	69992-87-6	--
N-Acetyllactosamine	D-galactopyranosyl (see all 8)	32181-59-2	--
Phosphoadenosine phosphosulfate	3'-Phospho-5'-adenylyl sulfate (see all 9)	482-67-7	--

9 Novoseek chemical compound relationships for CHST3 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
chondroitin	91.9	48	1751554 (5), 9714738 (2), 11056388 (2), 9883891 (2) (see all 17)
3-phosphoadenosine 5'-phosphosulfate	87.1	5	8991509 (1), 7629189 (1), 15215498 (1)
keratan sulfate	84.4	9	8991509 (2), 10781596 (1), 7629189 (1), 9147050 (1)
sulfate	72.3	6	18513679 (1), 8991509 (1), 7629189 (1), 9147050 (1) (see all 5)
chondroitin sulfate	71.7	3	15215498 (2)
n-acetylglucosamine	58.9	1	17113869 (1)
glycosaminoglycan	48.1	1	9639683 (1)
galactose	40	5	18697746 (4), 8991509 (1)
heparan sulfate	38.3	2	17113869 (1)

2 PharmGKB related drug/compound annotations for CHST3 gene

Drug/compound	PharmGKB Annotation
docetaxel	CA
thalidomide	CA

About this table

Search CenterWatch for drugs/clinical trials and news about CHST3

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CHST3 gene:

NM_004273.4

Unigene Cluster for CHST3:

Carbohydrate (chondroitin 6) sulfotransferase 3

Hs.158304 [show with all ESTs]

Unigene Representative Sequence: NM_004273

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000373115(uc001jsn.3)

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CHST3
		8/57 QIAGEN miScript miRNA Assays for microRNAs that regulate CHST3 (see all 57):
		hsa-miR-4291 hsa-miR-607 hsa-miR-330-5p hsa-let-7d hsa-miR-1304 hsa-let-7g hsa-miR-1276 hsa-miR-629*

		Browse SwitchGear 3'UTR luciferase reporter plasmids

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		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CHST3 (see all 7) OriGene shRNA RFP: CHST3 OriGene siRNA: CHST3
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CHST3

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		GenScript: all cDNA clones in your preferred vector: CHST3 (NM_004273)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for CHST3
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CHST3
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CHST3

Additional cDNA sequence:

AB012192.1 AB017915.1 AK025251.1 BC033183.1 BC093690.1 BC104856.1

5 DOTS entries:

DT.97841262 DT.121292972 DT.100814925 DT.91731394 DT.97788271

24/126 AceView cDNA sequences (see all 126):

BQ645048 AA195219 BQ649803 BF434427 BQ644078 BQ227644 AI366100 BQ645302

BQ893559 BU628479 BQ647499 BQ649742 AI864574 AI990904 AI088719 BQ648391

BM977332 BQ653571 CA388625 CB157152 AI421756 BQ064562 BQ646556 BC033183

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CHST3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAATGAGCAA

About this image

CHST3 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Heart

Atrioventricular Canal

Atrioventricular Canal Cells

Myocardium

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CHST3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CHST3

SOURCE GeneReport for Unigene cluster: Hs.158304

UniProtKB/Swiss-Prot: CHST3_HUMAN, Q7LGC8

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

SABiosciences Custom PCR Arrays for CHST3

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CHST3 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat CHST3
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CHST3
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CHST3

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHST3

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for CHST3 gene from 5/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Chst3^{1 , 5}	carbohydrate (chondroitin 6/keratan) sulfotransferase more^{1, 5}	85.31(n)¹ 86.65(a)¹		10 (29.70 cM)⁵ 53374¹ NM_016803.3¹ NP_058083.2¹ 60181534⁵
chicken (Gallus gallus)	Aves	CHST3¹	carbohydrate (chondroitin 6) sulfotransferase 3	80.49(n) 78.71(a)		396018 NM_205121.1 NP_990452.1
lizard (Anolis carolinensis)	Reptilia	CHST3⁶	--	74(a)	1 ↔ 1	3(48753865-48758051)
zebrafish (Danio rerio)	Actinopterygii	LOC559721¹	novel protein similar to vertebrate carbohydrate (chondroitin more	61.46(n) 60.73(a)		559721 NM_001145571.1 NP_001139043.1
fruit fly (Drosophila melanogaster)	Insecta	CG9550⁶ CG31637⁶	--	18(a) 17(a)	many ↔ many many ↔ many	2L(6497053-6498455) 2L(6498642-6526996)

ENSEMBL Gene Tree for CHST3 (if available)
TreeFam Gene Tree for CHST3 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CHST3 gene

CHST4² CHST1² CHST2² CHST6² CHST7² CHST5²

4 SIMAP similar genes for CHST3 using alignment to 1 protein entry: CHST3_HUMAN:

CHST1 CHST4 CHST5 CHST6

CHST3 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 10 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28937593^1,2	C	pathogenic	83149853(+)	`CCCCCG/AGGCCG`	2	/Q /R	mis¹ ese³		1		NA	2
rs145538723^1,2	C	pathogenic	83150289(+)	`ACATCT/ATCTAC`	2	/I /F	mis¹		1		NA	4378
rs74667947^1,2	F,	--	67717350(+)	`TTAGGC/TGAGTA`	1	--	us2k¹		1		NA	120
rs74148139^1,2	C,F,	--	67717454(+)	`GTTGTC/AGGTTA`	1	--	us2k¹		3		WA CSA	122
rs3808944^1,2	C,	--	67718133(-)	`GCAAGA/TGGGGT`	1	--	us2k¹		0	--	--	--	--
rs7478499^1,2	C,F,H,	--	67718380(+)	`CCCAGG/CGGGGA`	1	--	us2k¹		7		NS EA NA CSA WA	537
rs201807308^1,2	C	--	67718397(-)	`GGAGAA/GGATCT`	1	--	us2k¹		0	--	--	--	--
rs76409888^1,2		--	67718699(+)	`CTCCTC/GTCCCG`	1	--	us2k¹		0	--	--	--	--
rs56343295^1,2	C,F,	--	67719437(+)	`NNNNAC/TGGCGC`	1	--	int¹		1		NA	120
rs16929522^1,2	C,F,H,	--	67719500(+)	`GCACAT/GTCCTG`	1	--	int¹		11		NA NS WA	1150

HapMap Linkage Disequilibrium report for CHST3 (73724120 - 73773322 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for CHST3
1 Indel: 58467
Human Gene Mutation Database (HGMD): CHST3

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CHST3

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CHST3 for disorders           About GeneDecksing

OMIM gene information: 603799
OMIM disorders: 143095
UniProtKB/Swiss-Prot: CHST3_HUMAN, Q7LGC8

Defects in CHST3 are a cause of spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD)

[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

15 diseases for CHST3: About MalaCards

dysostosis spondyloepiphyseal dysplasia omani type spondyloepiphyseal dysplasia pneumonic plague

larsen syndrome short stature plague brachydactyly

chondrodysplasia alzheimer's disease prostate cancer breast cancer

prostatitis arthritis immunodeficiency

3 diseases from the University of Copenhagen DISEASES database for CHST3:

Larsen syndrome Enophthalmos Clubfoot

Human Genome Epidemiology (HuGE) Navigator: CHST3 (4 documents)

Export disorders for CHST3 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for CHST3 gene, integrated from 9 sources (see all 42):
(articles sorted by number of sources associating them with CHST3)

Utopia: connect your pdf to the dynamic
world of online information

Molecular cloning and expression of human chondroitin 6- sulfotransferase. (PubMed id 9714738)^{1, 2, 3, 9} Fukuta M.... Habuchi O. (1998)
Functional expression and genomic structure of human chondroitin 6- sulfotransferase. (PubMed id 9883891)^{1, 2, 3, 9} Tsutsumi K.... Sugahara K. (1998)
Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. (PubMed id 18513679)^{1, 2, 9} Hermanns P.... Superti-Furga A. (2008)
Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. (PubMed id 15215498)^{1, 2, 9} Thiele H.... Mundlos S. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Sulfation of the galactose residues in the glycosaminoglycan-protein linkage region by recombinant human chondroitin 6-O-sulfotransferase-1. (PubMed id 18697746)^{1, 9} Kitagawa H....Sugahara K. (2008)
Molecular cloning, expression, and chromosomal mapping of human chondroitin 4-sulfotransferase, whose expression pattern in human tissues is different from that of chondroitin 6-sulfotransferase. (PubMed id 11056388)^{1, 9} Okuda T.... Habuchi O. (2000)
Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3. (PubMed id 19320654)^{1, 9} Tuysuz B....Turkmen S. (2009)
Persistent cortical plasticity by upregulation of chon droitin 6-sulfation. (PubMed id 22246436)¹ Miyata S....Kitagawa H. (2012)
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral chan ges as principal diagnostic features. (PubMed id 20830804)¹ Unger S....Superti-Furga A. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 9469	HGNC: 1971	AceView: CHST3	Ensembl:ENSG00000122863	euGenes: HUgn9469
ECgene: CHST3	Kegg: 9469	H-InvDB: CHST3

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for CHST3	Pharmacogenomics, SNPs, Pathways
GGDB	http://riodb.ibase.aist.go.jp/rcmg/ggdb/

Intellectual Property for CHST3 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for CHST3 gene:
Search GeneIP for patents involving CHST3

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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