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	55454
Gene name	Chondroitin sulfate N-acetylgalactosaminyltransferase 2
Gene symbol	CSGALNACT2
Synonyms (NCBI Gene)	CHGN2ChGn-2GALNACT-2GALNACT2PRO0082beta4GalNAcT
Chromosome	10
Chromosome location	10q11.21
Summary	This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. The encoded protein is involved in elongation during chondroitin sulfate synthesis. Alternative splicing of this gene results in multiple transcript variants. Two rela

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miRTarBase ID	miRNA	Experiments	Reference
MIRT024661	hsa-miR-215-5p	Microarray	19074876
MIRT026540	hsa-miR-192-5p	Microarray	19074876
MIRT029723	hsa-miR-26b-5p	Microarray	19088304
MIRT053743	hsa-miR-29b-3p	Microarray	22942087
MIRT639356	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT639356	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT911827	hsa-miR-125a-3p	CLIP-seq
MIRT911828	hsa-miR-1266	CLIP-seq
MIRT911829	hsa-miR-1299	CLIP-seq
MIRT911830	hsa-miR-2054	CLIP-seq
MIRT911831	hsa-miR-217	CLIP-seq
MIRT911832	hsa-miR-3127-5p	CLIP-seq
MIRT911833	hsa-miR-3180	CLIP-seq
MIRT911834	hsa-miR-3180-3p	CLIP-seq
MIRT911835	hsa-miR-3196	CLIP-seq
MIRT911836	hsa-miR-320a	CLIP-seq
MIRT911837	hsa-miR-320b	CLIP-seq
MIRT911838	hsa-miR-320c	CLIP-seq
MIRT911839	hsa-miR-320d	CLIP-seq
MIRT911840	hsa-miR-3665	CLIP-seq
MIRT911841	hsa-miR-4276	CLIP-seq
MIRT911842	hsa-miR-4429	CLIP-seq
MIRT911843	hsa-miR-4452	CLIP-seq
MIRT911844	hsa-miR-4518	CLIP-seq
MIRT911845	hsa-miR-4659a-3p	CLIP-seq
MIRT911846	hsa-miR-4659b-3p	CLIP-seq
MIRT911847	hsa-miR-4699-5p	CLIP-seq
MIRT911848	hsa-miR-4709-5p	CLIP-seq
MIRT911849	hsa-miR-4736	CLIP-seq
MIRT911850	hsa-miR-510	CLIP-seq
MIRT911851	hsa-miR-548ac	CLIP-seq
MIRT911852	hsa-miR-548ae	CLIP-seq
MIRT911853	hsa-miR-548aj	CLIP-seq
MIRT911854	hsa-miR-548am	CLIP-seq
MIRT911855	hsa-miR-548d-3p	CLIP-seq
MIRT911856	hsa-miR-548x	CLIP-seq
MIRT911857	hsa-miR-548z	CLIP-seq
MIRT911858	hsa-miR-583	CLIP-seq
MIRT911859	hsa-miR-873	CLIP-seq
MIRT911860	hsa-miR-875-3p	CLIP-seq
MIRT911861	hsa-miR-889	CLIP-seq
MIRT1921971	hsa-miR-4768-5p	CLIP-seq
MIRT911830	hsa-miR-2054	CLIP-seq
MIRT1970304	hsa-miR-2117	CLIP-seq
MIRT911832	hsa-miR-3127-5p	CLIP-seq
MIRT1970305	hsa-miR-371b-5p	CLIP-seq
MIRT1970306	hsa-miR-3942-3p	CLIP-seq
MIRT1970307	hsa-miR-4275	CLIP-seq
MIRT911841	hsa-miR-4276	CLIP-seq
MIRT1921971	hsa-miR-4768-5p	CLIP-seq
MIRT1970308	hsa-miR-499a-5p	CLIP-seq
MIRT911851	hsa-miR-548ac	CLIP-seq
MIRT911852	hsa-miR-548ae	CLIP-seq
MIRT911853	hsa-miR-548aj	CLIP-seq
MIRT911854	hsa-miR-548am	CLIP-seq
MIRT911855	hsa-miR-548d-3p	CLIP-seq
MIRT911856	hsa-miR-548x	CLIP-seq
MIRT911857	hsa-miR-548z	CLIP-seq
MIRT1970309	hsa-miR-888	CLIP-seq
MIRT1970310	hsa-miR-944	CLIP-seq
MIRT2206240	hsa-miR-1179	CLIP-seq
MIRT2206241	hsa-miR-1229	CLIP-seq
MIRT2206242	hsa-miR-130a	CLIP-seq
MIRT2206243	hsa-miR-130b	CLIP-seq
MIRT2206244	hsa-miR-188-3p	CLIP-seq
MIRT2206245	hsa-miR-2115	CLIP-seq
MIRT2206246	hsa-miR-301a	CLIP-seq
MIRT2206247	hsa-miR-301b	CLIP-seq
MIRT2206248	hsa-miR-342-3p	CLIP-seq
MIRT2206249	hsa-miR-3613-3p	CLIP-seq
MIRT2206250	hsa-miR-3666	CLIP-seq
MIRT1970305	hsa-miR-371b-5p	CLIP-seq
MIRT1970307	hsa-miR-4275	CLIP-seq
MIRT2206251	hsa-miR-4295	CLIP-seq
MIRT2206252	hsa-miR-454	CLIP-seq
MIRT2206253	hsa-miR-4671-3p	CLIP-seq
MIRT2206254	hsa-miR-4719	CLIP-seq
MIRT2206255	hsa-miR-4762-5p	CLIP-seq
MIRT2206256	hsa-miR-500a	CLIP-seq
MIRT2206257	hsa-miR-587	CLIP-seq
MIRT2206258	hsa-miR-630	CLIP-seq
MIRT2206259	hsa-miR-759	CLIP-seq
MIRT1970310	hsa-miR-944	CLIP-seq
MIRT2386511	hsa-miR-3663-5p	CLIP-seq
MIRT2386512	hsa-miR-4420	CLIP-seq
MIRT2386513	hsa-miR-4760-3p	CLIP-seq
MIRT2386514	hsa-miR-487b	CLIP-seq
MIRT2206258	hsa-miR-630	CLIP-seq
MIRT1970310	hsa-miR-944	CLIP-seq
MIRT2447727	hsa-miR-1324	CLIP-seq
MIRT2447728	hsa-miR-4661-3p	CLIP-seq
MIRT2447729	hsa-miR-4684-5p	CLIP-seq
MIRT1921971	hsa-miR-4768-5p	CLIP-seq
MIRT2447730	hsa-miR-543	CLIP-seq
MIRT911827	hsa-miR-125a-3p	CLIP-seq
MIRT911828	hsa-miR-1266	CLIP-seq
MIRT2509548	hsa-miR-1305	CLIP-seq
MIRT2206242	hsa-miR-130a	CLIP-seq
MIRT2206243	hsa-miR-130b	CLIP-seq
MIRT2509549	hsa-miR-142-3p	CLIP-seq
MIRT2509550	hsa-miR-1910	CLIP-seq
MIRT911830	hsa-miR-2054	CLIP-seq
MIRT2206246	hsa-miR-301a	CLIP-seq
MIRT2206247	hsa-miR-301b	CLIP-seq
MIRT2509551	hsa-miR-3140-5p	CLIP-seq
MIRT911833	hsa-miR-3180	CLIP-seq
MIRT911834	hsa-miR-3180-3p	CLIP-seq
MIRT911835	hsa-miR-3196	CLIP-seq
MIRT2509552	hsa-miR-3200-5p	CLIP-seq
MIRT2509553	hsa-miR-3607-3p	CLIP-seq
MIRT911840	hsa-miR-3665	CLIP-seq
MIRT2206250	hsa-miR-3666	CLIP-seq
MIRT2509554	hsa-miR-3686	CLIP-seq
MIRT2509555	hsa-miR-380	CLIP-seq
MIRT2509556	hsa-miR-3973	CLIP-seq
MIRT2509557	hsa-miR-4279	CLIP-seq
MIRT2206251	hsa-miR-4295	CLIP-seq
MIRT2509558	hsa-miR-4427	CLIP-seq
MIRT911844	hsa-miR-4518	CLIP-seq
MIRT2206252	hsa-miR-454	CLIP-seq
MIRT911845	hsa-miR-4659a-3p	CLIP-seq
MIRT911846	hsa-miR-4659b-3p	CLIP-seq
MIRT2206253	hsa-miR-4671-3p	CLIP-seq
MIRT2509559	hsa-miR-4680-3p	CLIP-seq
MIRT911847	hsa-miR-4699-5p	CLIP-seq
MIRT911849	hsa-miR-4736	CLIP-seq
MIRT2509560	hsa-miR-4738-3p	CLIP-seq
MIRT2509561	hsa-miR-4803	CLIP-seq
MIRT2206256	hsa-miR-500a	CLIP-seq
MIRT911850	hsa-miR-510	CLIP-seq
MIRT2509562	hsa-miR-520g	CLIP-seq
MIRT2509563	hsa-miR-520h	CLIP-seq
MIRT2509564	hsa-miR-548l	CLIP-seq
MIRT2509565	hsa-miR-656	CLIP-seq
MIRT1970309	hsa-miR-888	CLIP-seq
MIRT911861	hsa-miR-889	CLIP-seq
MIRT911827	hsa-miR-125a-3p	CLIP-seq
MIRT911828	hsa-miR-1266	CLIP-seq
MIRT2509548	hsa-miR-1305	CLIP-seq
MIRT911830	hsa-miR-2054	CLIP-seq
MIRT2678701	hsa-miR-3136-3p	CLIP-seq
MIRT2509551	hsa-miR-3140-5p	CLIP-seq
MIRT911833	hsa-miR-3180	CLIP-seq
MIRT911834	hsa-miR-3180-3p	CLIP-seq
MIRT911835	hsa-miR-3196	CLIP-seq
MIRT2509553	hsa-miR-3607-3p	CLIP-seq
MIRT911840	hsa-miR-3665	CLIP-seq
MIRT2678702	hsa-miR-3677-5p	CLIP-seq
MIRT2509554	hsa-miR-3686	CLIP-seq
MIRT2509555	hsa-miR-380	CLIP-seq
MIRT2509556	hsa-miR-3973	CLIP-seq
MIRT2509557	hsa-miR-4279	CLIP-seq
MIRT911844	hsa-miR-4518	CLIP-seq
MIRT911845	hsa-miR-4659a-3p	CLIP-seq
MIRT911846	hsa-miR-4659b-3p	CLIP-seq
MIRT911847	hsa-miR-4699-5p	CLIP-seq
MIRT911848	hsa-miR-4709-5p	CLIP-seq
MIRT911849	hsa-miR-4736	CLIP-seq
MIRT2509560	hsa-miR-4738-3p	CLIP-seq
MIRT2509561	hsa-miR-4803	CLIP-seq
MIRT2206256	hsa-miR-500a	CLIP-seq
MIRT911850	hsa-miR-510	CLIP-seq
MIRT2509562	hsa-miR-520g	CLIP-seq
MIRT2509563	hsa-miR-520h	CLIP-seq
MIRT2509564	hsa-miR-548l	CLIP-seq
MIRT2509565	hsa-miR-656	CLIP-seq
MIRT2678703	hsa-miR-663b	CLIP-seq
MIRT1970309	hsa-miR-888	CLIP-seq
MIRT911861	hsa-miR-889	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	NAS	11788602
GO:0000139	Component	Golgi membrane	TAS
GO:0005515	Function	Protein binding	IPI	25416956, 32296183, 33961781
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0008376	Function	Acetylgalactosaminyltransferase activity	IDA	11788602
GO:0008376	Function	Acetylgalactosaminyltransferase activity	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030166	Process	Proteoglycan biosynthetic process	IDA	11788602
GO:0032580	Component	Golgi cisterna membrane	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0047237	Function	Glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	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:0050650	Process	Chondroitin sulfate proteoglycan biosynthetic process	IBA
GO:0050650	Process	Chondroitin sulfate proteoglycan biosynthetic process	IDA	11788602
GO:0050650	Process	Chondroitin sulfate proteoglycan biosynthetic process	IEA
GO:0050650	Process	Chondroitin sulfate proteoglycan biosynthetic process	TAS	11788602
GO:0050651	Process	Dermatan sulfate proteoglycan biosynthetic process	IDA	11788602
GO:0050651	Process	Dermatan sulfate proteoglycan biosynthetic process	TAS	11788602

MIM	HGNC	e!Ensembl
616616	24292	ENSG00000169826

Q8N6G5

Protein name

Chondroitin sulfate N-acetylgalactosaminyltransferase 2 (EC 2.4.1.174) (Chondroitin beta-1,4-N-acetylgalactosaminyltransferase 2) (Beta4GalNAcT-2) (GalNAcT-2)

Protein function

Transfers 1,4-N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of glucuronic acid (GlcUA). Required for addition of the first GalNAc to the core tetrasaccharide linker and for elongation of chondroitin chains. {ECO:0000269|

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05679	CHGN	57 → 516	Chondroitin N-acetylgalactosaminyltransferase	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:12433924, ECO:0000269|PubMed:12446672}.

Sequence

MPRRGLILHTRTHWLLLGLALLCSLVLFMYLLECAPQTDGNASLPGVVGENYGKEYYQAL
LQEQEEHYQTRATSLKRQIAQLKQELQEMSEKMRSLQERRNVGANGIGYQSNKEQAPSDL
LEFLHSQIDKAEVSIGAKLPSEYGVIPFESFTLMKVFQLEMGLTRHPEEKPVRKDKRDEL
VEVIEAGLEVINNPDEDDEQEDEEGPLGEKLIFNENDFVEGYYRTERDKGTQYELFFKKA
DLTEYRHVTLFRPFGPLMKVKSEMIDITRSIINIIVPLAERTEAFVQFMQNFRDVCIHQD
KKIHLTVVYFGKEGLSKVKSILESVTSESNFHNYTLVSLNEEFNRGRGLNVGARAWDKGE
VLMFFCDVDIYFSAEFLNSCRLNAEPGKKVFYPVVFSLYNPAIVYANQEVPPPVEQQLVH
KKDSGFWRDFGFGMTCQYRSDFLTIGGFDMEVKGWGGEDVHLYRKYLHGDLIVIRTPVPG
LFHLWHEKRCADELTPEQYRMCIQSKAMNEASHSHLGMLVFREEIETHLHKQAYRTNSEA
VG

Sequence length

542

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 (2)

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.
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (8)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arteriosclerosis	Arteriosclerosis	BEFREE	30579596		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	30579596		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30537927	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	GWASDB_DG	19196962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	25310821		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	25310821	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASCAT_DG	24076602		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tourette Syndrome	Tourette syndrome	Pubtator	35354918	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

CSGALNACT2 (chondroitin sulfate N-acetylgalactosaminyltransferase 2)