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	2650
Gene name	Glucosaminyl (N-acetyl) transferase 1
Gene symbol	GCNT1
Synonyms (NCBI Gene)	C2GNTC2GNT-LC2GNT1C2GlcNAcTG6NTNACGT2NAGCT2
Chromosome	9
Chromosome location	9q21.13
Summary	This gene is a member of the beta-1,6-N-acetylglucosaminyltransferase gene family. It is essential to the formation of Gal beta 1-3(GlcNAc beta 1-6)GalNAc structures and the core 2 O-glycan branch. The gene coding this enzyme was originally mapped to 9q21

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Show/Hide all (183)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021750	hsa-miR-132-3p	Microarray	17612493
MIRT025075	hsa-miR-181a-5p	Microarray	17612493
MIRT625787	hsa-miR-586	HITS-CLIP	23824327
MIRT625786	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT625785	hsa-miR-1234-3p	HITS-CLIP	23824327
MIRT625784	hsa-miR-7107-5p	HITS-CLIP	23824327
MIRT625783	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT625782	hsa-miR-2682-3p	HITS-CLIP	23824327
MIRT625781	hsa-miR-6781-3p	HITS-CLIP	23824327
MIRT625780	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT625779	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT625778	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT625777	hsa-miR-491-3p	HITS-CLIP	23824327
MIRT625787	hsa-miR-586	HITS-CLIP	23824327
MIRT625786	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT625785	hsa-miR-1234-3p	HITS-CLIP	23824327
MIRT625784	hsa-miR-7107-5p	HITS-CLIP	23824327
MIRT625783	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT625782	hsa-miR-2682-3p	HITS-CLIP	23824327
MIRT625781	hsa-miR-6781-3p	HITS-CLIP	23824327
MIRT625780	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT625779	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT625778	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT625777	hsa-miR-491-3p	HITS-CLIP	23824327
MIRT625787	hsa-miR-586	HITS-CLIP	23824327
MIRT625786	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT625785	hsa-miR-1234-3p	HITS-CLIP	23824327
MIRT625784	hsa-miR-7107-5p	HITS-CLIP	23824327
MIRT625783	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT625782	hsa-miR-2682-3p	HITS-CLIP	23824327
MIRT625781	hsa-miR-6781-3p	HITS-CLIP	23824327
MIRT625780	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT625779	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT625778	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT625777	hsa-miR-491-3p	HITS-CLIP	23824327
MIRT625787	hsa-miR-586	HITS-CLIP	23824327
MIRT625786	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT625785	hsa-miR-1234-3p	HITS-CLIP	23824327
MIRT625784	hsa-miR-7107-5p	HITS-CLIP	23824327
MIRT625783	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT625782	hsa-miR-2682-3p	HITS-CLIP	23824327
MIRT625781	hsa-miR-6781-3p	HITS-CLIP	23824327
MIRT625780	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT625779	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT625778	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT625777	hsa-miR-491-3p	HITS-CLIP	23824327
MIRT1014894	hsa-miR-146a	CLIP-seq
MIRT1014895	hsa-miR-146b-5p	CLIP-seq
MIRT1014896	hsa-miR-421	CLIP-seq
MIRT1014897	hsa-miR-4272	CLIP-seq
MIRT1014898	hsa-miR-4307	CLIP-seq
MIRT1014899	hsa-miR-4477b	CLIP-seq
MIRT1014900	hsa-miR-4718	CLIP-seq
MIRT1014901	hsa-miR-485-3p	CLIP-seq
MIRT1014902	hsa-miR-548ag	CLIP-seq
MIRT1014903	hsa-miR-548ai	CLIP-seq
MIRT1014904	hsa-miR-556-5p	CLIP-seq
MIRT1014905	hsa-miR-589	CLIP-seq
MIRT1014906	hsa-miR-610	CLIP-seq
MIRT1014907	hsa-miR-664	CLIP-seq
MIRT1014908	hsa-miR-1	CLIP-seq
MIRT1014909	hsa-miR-101	CLIP-seq
MIRT1014910	hsa-miR-125a-5p	CLIP-seq
MIRT1014911	hsa-miR-125b	CLIP-seq
MIRT1014912	hsa-miR-1273f	CLIP-seq
MIRT1014913	hsa-miR-143	CLIP-seq
MIRT1014914	hsa-miR-144	CLIP-seq
MIRT1014915	hsa-miR-146b-3p	CLIP-seq
MIRT1014916	hsa-miR-18a	CLIP-seq
MIRT1014917	hsa-miR-18b	CLIP-seq
MIRT1014918	hsa-miR-206	CLIP-seq
MIRT1014919	hsa-miR-3173-5p	CLIP-seq
MIRT1014920	hsa-miR-3190	CLIP-seq
MIRT1014921	hsa-miR-3192	CLIP-seq
MIRT1014922	hsa-miR-339-5p	CLIP-seq
MIRT1014923	hsa-miR-3673	CLIP-seq
MIRT1014924	hsa-miR-3915	CLIP-seq
MIRT1014925	hsa-miR-3928	CLIP-seq
MIRT1014926	hsa-miR-4274	CLIP-seq
MIRT1014927	hsa-miR-4314	CLIP-seq
MIRT1014928	hsa-miR-4319	CLIP-seq
MIRT1014929	hsa-miR-4324	CLIP-seq
MIRT1014930	hsa-miR-4421	CLIP-seq
MIRT1014931	hsa-miR-4424	CLIP-seq
MIRT1014932	hsa-miR-4491	CLIP-seq
MIRT1014933	hsa-miR-4499	CLIP-seq
MIRT1014934	hsa-miR-4503	CLIP-seq
MIRT1014935	hsa-miR-4519	CLIP-seq
MIRT1014936	hsa-miR-4646-5p	CLIP-seq
MIRT1014937	hsa-miR-4657	CLIP-seq
MIRT1014938	hsa-miR-4672	CLIP-seq
MIRT1014939	hsa-miR-4708-5p	CLIP-seq
MIRT1014940	hsa-miR-4732-3p	CLIP-seq
MIRT1014941	hsa-miR-4735-3p	CLIP-seq
MIRT1014942	hsa-miR-4747-5p	CLIP-seq
MIRT1014943	hsa-miR-4770	CLIP-seq
MIRT1014944	hsa-miR-603	CLIP-seq
MIRT1014945	hsa-miR-613	CLIP-seq
MIRT1014946	hsa-miR-622	CLIP-seq
MIRT1014947	hsa-miR-670	CLIP-seq
MIRT1014948	hsa-miR-7	CLIP-seq
MIRT1014949	hsa-miR-874	CLIP-seq
MIRT1014950	hsa-miR-23a	CLIP-seq
MIRT1014951	hsa-miR-23b	CLIP-seq
MIRT1014952	hsa-miR-23c	CLIP-seq
MIRT1014898	hsa-miR-4307	CLIP-seq
MIRT1014899	hsa-miR-4477b	CLIP-seq
MIRT2000506	hsa-miR-1236	CLIP-seq
MIRT1014914	hsa-miR-144	CLIP-seq
MIRT2000507	hsa-miR-1915	CLIP-seq
MIRT1014950	hsa-miR-23a	CLIP-seq
MIRT1014951	hsa-miR-23b	CLIP-seq
MIRT1014952	hsa-miR-23c	CLIP-seq
MIRT1014920	hsa-miR-3190	CLIP-seq
MIRT1014898	hsa-miR-4307	CLIP-seq
MIRT1014938	hsa-miR-4672	CLIP-seq
MIRT2000508	hsa-miR-4681	CLIP-seq
MIRT2000509	hsa-miR-4709-5p	CLIP-seq
MIRT2000510	hsa-miR-4736	CLIP-seq
MIRT1014901	hsa-miR-485-3p	CLIP-seq
MIRT2000511	hsa-miR-486-3p	CLIP-seq
MIRT2000512	hsa-miR-513b	CLIP-seq
MIRT2000513	hsa-miR-942	CLIP-seq
MIRT1014909	hsa-miR-101	CLIP-seq
MIRT2234023	hsa-miR-1184	CLIP-seq
MIRT2234024	hsa-miR-1205	CLIP-seq
MIRT1014910	hsa-miR-125a-5p	CLIP-seq
MIRT1014911	hsa-miR-125b	CLIP-seq
MIRT1014912	hsa-miR-1273f	CLIP-seq
MIRT2234025	hsa-miR-1276	CLIP-seq
MIRT2234026	hsa-miR-1301	CLIP-seq
MIRT1014913	hsa-miR-143	CLIP-seq
MIRT1014914	hsa-miR-144	CLIP-seq
MIRT2234027	hsa-miR-2114	CLIP-seq
MIRT2234028	hsa-miR-217	CLIP-seq
MIRT2234029	hsa-miR-298	CLIP-seq
MIRT2234030	hsa-miR-3124-3p	CLIP-seq
MIRT2234031	hsa-miR-3156-3p	CLIP-seq
MIRT2234032	hsa-miR-3158-5p	CLIP-seq
MIRT2234033	hsa-miR-3194-3p	CLIP-seq
MIRT2234034	hsa-miR-3620	CLIP-seq
MIRT2234035	hsa-miR-3660	CLIP-seq
MIRT2234036	hsa-miR-3663-3p	CLIP-seq
MIRT2234037	hsa-miR-3692	CLIP-seq
MIRT2234038	hsa-miR-371-5p	CLIP-seq
MIRT2234039	hsa-miR-3921	CLIP-seq
MIRT2234040	hsa-miR-3925-5p	CLIP-seq
MIRT2234041	hsa-miR-3929	CLIP-seq
MIRT2234042	hsa-miR-4281	CLIP-seq
MIRT2234043	hsa-miR-4301	CLIP-seq
MIRT2234044	hsa-miR-4311	CLIP-seq
MIRT1014928	hsa-miR-4319	CLIP-seq
MIRT1014929	hsa-miR-4324	CLIP-seq
MIRT2234045	hsa-miR-4419b	CLIP-seq
MIRT2234046	hsa-miR-4420	CLIP-seq
MIRT2234047	hsa-miR-4438	CLIP-seq
MIRT1014899	hsa-miR-4477b	CLIP-seq
MIRT2234048	hsa-miR-4478	CLIP-seq
MIRT1014934	hsa-miR-4503	CLIP-seq
MIRT2234049	hsa-miR-4526	CLIP-seq
MIRT2234050	hsa-miR-4639-5p	CLIP-seq
MIRT2234051	hsa-miR-4653-5p	CLIP-seq
MIRT2234052	hsa-miR-4660	CLIP-seq
MIRT1014938	hsa-miR-4672	CLIP-seq
MIRT2234053	hsa-miR-4691-3p	CLIP-seq
MIRT1014939	hsa-miR-4708-5p	CLIP-seq
MIRT2234054	hsa-miR-4713-5p	CLIP-seq
MIRT1014940	hsa-miR-4732-3p	CLIP-seq
MIRT1014943	hsa-miR-4770	CLIP-seq
MIRT1014901	hsa-miR-485-3p	CLIP-seq
MIRT2234055	hsa-miR-496	CLIP-seq
MIRT2234056	hsa-miR-5047	CLIP-seq
MIRT2234057	hsa-miR-522	CLIP-seq
MIRT2234058	hsa-miR-532-3p	CLIP-seq
MIRT2234059	hsa-miR-548g	CLIP-seq
MIRT2234060	hsa-miR-583	CLIP-seq
MIRT1014944	hsa-miR-603	CLIP-seq
MIRT2234061	hsa-miR-668	CLIP-seq
MIRT1014947	hsa-miR-670	CLIP-seq
MIRT2000513	hsa-miR-942	CLIP-seq
MIRT2000509	hsa-miR-4709-5p	CLIP-seq
MIRT2437393	hsa-miR-3120-3p	CLIP-seq
MIRT2234037	hsa-miR-3692	CLIP-seq

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0003829	Function	Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	IBA
GO:0003829	Function	Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	IDA	1329093
GO:0003829	Function	Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	IEA
GO:0003829	Function	Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	TAS
GO:0005515	Function	Protein binding	IPI	23027862
GO:0005615	Component	Extracellular space	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005802	Component	Trans-Golgi network	IDA	23027862
GO:0006486	Process	Protein glycosylation	IEA
GO:0008194	Function	UDP-glycosyltransferase activity	IEA
GO:0009101	Process	Glycoprotein biosynthetic process	IEA
GO:0009101	Process	Glycoprotein biosynthetic process	IMP	23027862
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	1329093
GO:0016266	Process	Protein O-linked glycosylation via N-acetyl-galactosamine	IDA	1329093
GO:0016266	Process	Protein O-linked glycosylation via N-acetyl-galactosamine	IEA
GO:0016266	Process	Protein O-linked glycosylation via N-acetyl-galactosamine	TAS
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0031985	Component	Golgi cisterna	IDA	23027862
GO:0032868	Process	Response to insulin	IEA
GO:0048729	Process	Tissue morphogenesis	IEA
GO:0050901	Process	Leukocyte tethering or rolling	IMP	23027862
GO:0060352	Process	Cell adhesion molecule production	IMP	23027862
GO:0060993	Process	Kidney morphogenesis	IEA
GO:1903238	Process	Positive regulation of leukocyte tethering or rolling	IEA

MIM	HGNC	e!Ensembl
600391	4203	ENSG00000187210

Q02742

Protein name

Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase (EC 2.4.1.102) (Core 2 beta-1,6-N-acetylglucosaminyltransferase) (C2GlcNAcT) (Core 2-branching enzyme) (Core2-GlcNAc-transferase) (C2GNT) (Core 2 GNT) (Leukocyte type cor

Protein function

Glycosyltransferase that catalyzes the transfer of an N-acetylglucosamine (GlcNAc) moiety in beta1-6 linkage from UDP-GlcNAc onto mucin-type core 1 O-glycan to form the branched mucin-type core 2 O-glycan (PubMed:1329093, PubMed:23027862). The c

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02485	Branch	123 → 392	Core-2/I-Branching enzyme	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in activated T-lymphocytes and myeloid cells.

Sequence

MLRTLLRRRLFSYPTKYYFMVLVLSLITFSVLRIHQKPEFVSVRHLELAGENPSSDINCT
KVLQGDVNEIQKVKLEILTVKFKKRPRWTPDDYINMTSDCSSFIKRRKYIVEPLSKEEAE
FPIAYSIVVHHKIEMLDRLLRAIYMPQNFYCIHVDTKSEDSYLAAVMGIASCFSNVFVAS
RLESVVYASWSRVQADLNCMKDLYAMSANWKYLINLCGMDFPIKTNLEIVRKLKLLMGEN
NLETERMPSHKEERWKKRYEVVNGKLTNTGTVKMLPPLETPLFSGSAYFVVSREYVGYVL
QNEKIQKLMEWAQDTYSPDEYLWATIQRIPEVPGSLPASHKYDLSDMQAVARFVKWQYFE
GDVSKGAPYPPCDGVHVRSVCIFGAGDLNWMLRKHHLFANKFDVDVDLFAIQCLDEHLRH
KALETLKH

Sequence length

428

Interactions

View interactions

	KEGG		Reactome
	Mucin type O-glycan biosynthesis Metabolic pathways		O-linked glycosylation of mucins

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 (6)

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.
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (22)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	11280791, 19267921		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	11552947, 21283832		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Mucoepidermoid	Mucoepidermoid carcinoma	Pubtator	37031283	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	11280791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	19267921, 21283832	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	9393734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	16778138	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	11280791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	18815556		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15882971, 24854630		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	15882971		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15882971, 28039261		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	30344930		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	18815556		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	17553459	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15882971, 24854630		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	15882971, 15932919		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	15882971		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23165940, 25086069	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24854630, 37813880	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	20017138		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	22446589	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

GCNT1 (glucosaminyl (N-acetyl) transferase 1)