Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	337876
Gene name	Chondroitin sulfate synthase 3
Gene symbol	CHSY3
Synonyms (NCBI Gene)	CHSY2CSS3
Chromosome	5
Chromosome location	5q23.3
Summary	CSS3 is a glycosyltransferase that has both glucuronyltransferase and N-acetylgalactosaminyltransferase activities (Yada et al., 2003 [PubMed 12907687]).[supplied by OMIM, Mar 2008]

Show/Hide all (16)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022942	hsa-miR-124-3p	Microarray	18668037
MIRT024796	hsa-miR-215-5p	Microarray	19074876
MIRT026772	hsa-miR-192-5p	Microarray	19074876
MIRT042238	hsa-miR-484	CLASH	23622248
MIRT892694	hsa-miR-1323	CLIP-seq
MIRT892695	hsa-miR-2355-5p	CLIP-seq
MIRT892696	hsa-miR-3190	CLIP-seq
MIRT892697	hsa-miR-3667-5p	CLIP-seq
MIRT892698	hsa-miR-4422	CLIP-seq
MIRT892699	hsa-miR-4476	CLIP-seq
MIRT892700	hsa-miR-4676-5p	CLIP-seq
MIRT892701	hsa-miR-4712-5p	CLIP-seq
MIRT892702	hsa-miR-4752	CLIP-seq
MIRT892703	hsa-miR-548o	CLIP-seq
MIRT892704	hsa-miR-575	CLIP-seq
MIRT892705	hsa-miR-770-5p	CLIP-seq

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence
GO:0000139	Component	Golgi membrane	TAS
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0008376	Function	Acetylgalactosaminyltransferase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0032580	Component	Golgi cisterna membrane	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0047238	Function	Glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	IBA
GO:0047238	Function	Glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	IEA
GO:0047238	Function	Glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	TAS
GO:0050510	Function	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	IEA
GO:0050510	Function	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	TAS
GO:0050650	Process	Chondroitin sulfate proteoglycan biosynthetic process	IBA
GO:0050650	Process	Chondroitin sulfate proteoglycan biosynthetic process	IEA
GO:0050650	Process	Chondroitin sulfate proteoglycan biosynthetic process	TAS

MIM	HGNC	e!Ensembl
609963	24293	ENSG00000198108

Q70JA7

Protein name

Chondroitin sulfate synthase 3 (EC 2.4.1.175) (EC 2.4.1.226) (Carbohydrate synthase 2) (Chondroitin glucuronyltransferase 3) (Chondroitin synthase 2) (ChSy-2) (Glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase II) (

Protein function

Has both beta-1,3-glucuronic acid and beta-1,4-N-acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of the elongating chondroitin

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05679	CHGN	328 → 864	Chondroitin N-acetylgalactosaminyltransferase	Family

Tissue specificity

TISSUE SPECIFICITY: Detected at low levels in brain, cerebral cortex, uterus and small intestine. {ECO:0000269|PubMed:12907687}.

Sequence

MAVRSRRPWMSVALGLVLGFTAASWLIAPRVAELSERKRRGSSLCSYYGRSAAGPRAGAQ
QPLPQPQSRPRQEQSPPPARQDLQGPPLPEAAPGITSFRSSPWQQPPPLQQRRRGREPEG
ATGLPGAPAAEGEPEEEDGGAAGQRRDGRPGSSHNGSGDGGAAAPSARPRDFLYVGVMTA
QKYLGSRALAAQRTWARFIPGRVEFFSSQQPPNAGQPPPPLPVIALPGVDDSYPPQKKSF
MMIKYMHDHYLDKYEWFMRADDDVYIKGDKLEEFLRSLNSSKPLYLGQTGLGNIEELGKL
GLEPGENFCMGGPGMIFSREVLRRMVPHIGECLREMYTTHEDVEVGRCVRRFGGTQCVWS
YEMQQLFHENYEHNRKGYIQDLHNSKIHAAITLHPNKRPAYQYRLHNYMLSRKISELRYR
TIQLHRESALMSKLSNTEVSKEDQQLGVIPSFNHFQPRERNEVIEWEFLTGKLLYSAAEN
QPPRQSLSSILRTALDDTVLQVMEMINENAKSRGRLIDFKEIQYGYRRVNPMHGVEYILD
LLLLYKRHKGRKLTVPVRRHAYLQQLFSKPFFRETEELDVNSLVESINSETQSFSFISNS
LKILSSFQGAKEMGGHNEKKVHILVPLIGRYDIFLRFMENFENMCLIPKQNVKLVIILFS
RDSGQDSSKHIELIKGYQNKYPKAEMTLIPMKGEFSRGLGLEMASAQFDNDTLLLFCDVD
LIFREDFLQRCRDNTIQGQQVYYPIIFSQYDPKVTNGGNPPTDDYFIFSKKTGFWRDYGY
GITCIYKSDLLGAGGFDTSIQGWGLEDVDLYNKVILSGLRPFRSQEVGVVHIFHPVHCDP
NLDPKQYKMCLGSKASTFASTMQLAELWLEKHLGVRYNRTLS

Sequence length

882

Interactions

View interactions

	KEGG		Reactome
	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate Metabolic pathways		Chondroitin sulfate biosynthesis

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)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (14)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Carcinoma	Breast Carcinoma	BEFREE	29984655		★★★★★ ★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	18982401, 27164190	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	27187683	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26515597		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26515597	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29984655		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	28514734	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29984655		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	27187683		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	36184273	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	27187683		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	27187683	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tumoral Calcinosis Hyperphosphatemic Familial	Tumoral calcinosis	Pubtator	18982401, 27164190	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL	Tumoral calcinosis	BEFREE	18982401, 27164190		★★★★★ ★☆☆☆☆ Found in Text Mining only

CHSY3 (chondroitin sulfate synthase 3)