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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2651
Gene name	Glucosaminyl (N-acetyl) transferase 2 (I blood group)
Gene symbol	GCNT2
Synonyms (NCBI Gene)	CCATCTRCT13GCNT2CGCNT5IGNTIINACGT1NAGCT1ULG3bA360O19.2bA421M1.1
Chromosome	6
Chromosome location	6p24.3-p24.2
Summary	This gene encodes the enzyme responsible for formation of the blood group I antigen. The i and I antigens are distinguished by linear and branched poly-N-acetyllactosaminoglycans, respectively. The encoded protein is the I-branching enzyme, a beta-1,6-N-a

Show/Hide all (9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs55940927	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs56141211	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs137853339	G>A,C	Pathogenic	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs137853340	G>A	Pathogenic	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs786205577	A>G	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs949335475	->T	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant, intron variant
rs1114167313	T>C	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1114167314	ATCA>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1184095219	C>-	Pathogenic	Genic downstream transcript variant, frameshift variant, intron variant, coding sequence variant, genic upstream transcript variant

156

Show/Hide all (156)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016749	hsa-miR-335-5p	Microarray	18185580
MIRT021899	hsa-miR-128-3p	Microarray	17612493
MIRT027404	hsa-miR-98-5p	Microarray	19088304
MIRT028842	hsa-miR-26b-5p	Microarray	19088304
MIRT1014953	hsa-miR-1236	CLIP-seq
MIRT1014954	hsa-miR-1237	CLIP-seq
MIRT1014955	hsa-miR-1248	CLIP-seq
MIRT1014956	hsa-miR-1255a	CLIP-seq
MIRT1014957	hsa-miR-1255b	CLIP-seq
MIRT1014958	hsa-miR-1275	CLIP-seq
MIRT1014959	hsa-miR-1343	CLIP-seq
MIRT1014960	hsa-miR-143	CLIP-seq
MIRT1014961	hsa-miR-185	CLIP-seq
MIRT1014962	hsa-miR-1976	CLIP-seq
MIRT1014963	hsa-miR-208a	CLIP-seq
MIRT1014964	hsa-miR-208b	CLIP-seq
MIRT1014965	hsa-miR-23a	CLIP-seq
MIRT1014966	hsa-miR-23b	CLIP-seq
MIRT1014967	hsa-miR-23c	CLIP-seq
MIRT1014968	hsa-miR-2682	CLIP-seq
MIRT1014969	hsa-miR-2861	CLIP-seq
MIRT1014970	hsa-miR-3126-5p	CLIP-seq
MIRT1014971	hsa-miR-3134	CLIP-seq
MIRT1014972	hsa-miR-3163	CLIP-seq
MIRT1014973	hsa-miR-320a	CLIP-seq
MIRT1014974	hsa-miR-320b	CLIP-seq
MIRT1014975	hsa-miR-320c	CLIP-seq
MIRT1014976	hsa-miR-320d	CLIP-seq
MIRT1014977	hsa-miR-34a	CLIP-seq
MIRT1014978	hsa-miR-34c-5p	CLIP-seq
MIRT1014979	hsa-miR-3617	CLIP-seq
MIRT1014980	hsa-miR-3658	CLIP-seq
MIRT1014981	hsa-miR-411	CLIP-seq
MIRT1014982	hsa-miR-4260	CLIP-seq
MIRT1014983	hsa-miR-4301	CLIP-seq
MIRT1014984	hsa-miR-4306	CLIP-seq
MIRT1014985	hsa-miR-4419a	CLIP-seq
MIRT1014986	hsa-miR-4429	CLIP-seq
MIRT1014987	hsa-miR-449a	CLIP-seq
MIRT1014988	hsa-miR-449b	CLIP-seq
MIRT1014989	hsa-miR-449c	CLIP-seq
MIRT1014990	hsa-miR-4510	CLIP-seq
MIRT1014991	hsa-miR-4514	CLIP-seq
MIRT1014992	hsa-miR-4643	CLIP-seq
MIRT1014993	hsa-miR-4644	CLIP-seq
MIRT1014994	hsa-miR-4645-5p	CLIP-seq
MIRT1014995	hsa-miR-4665-5p	CLIP-seq
MIRT1014996	hsa-miR-4673	CLIP-seq
MIRT1014997	hsa-miR-4692	CLIP-seq
MIRT1014998	hsa-miR-4695-3p	CLIP-seq
MIRT1014999	hsa-miR-4762-3p	CLIP-seq
MIRT1015000	hsa-miR-4768-3p	CLIP-seq
MIRT1015001	hsa-miR-4770	CLIP-seq
MIRT1015002	hsa-miR-4774-5p	CLIP-seq
MIRT1015003	hsa-miR-4778-3p	CLIP-seq
MIRT1015004	hsa-miR-499-5p	CLIP-seq
MIRT1015005	hsa-miR-548a-5p	CLIP-seq
MIRT1015006	hsa-miR-548ab	CLIP-seq
MIRT1015007	hsa-miR-548ak	CLIP-seq
MIRT1015008	hsa-miR-548b-5p	CLIP-seq
MIRT1015009	hsa-miR-548c-5p	CLIP-seq
MIRT1015010	hsa-miR-548d-5p	CLIP-seq
MIRT1015011	hsa-miR-548h	CLIP-seq
MIRT1015012	hsa-miR-548i	CLIP-seq
MIRT1015013	hsa-miR-548j	CLIP-seq
MIRT1015014	hsa-miR-548k	CLIP-seq
MIRT1015015	hsa-miR-548l	CLIP-seq
MIRT1015016	hsa-miR-548w	CLIP-seq
MIRT1015017	hsa-miR-548y	CLIP-seq
MIRT1015018	hsa-miR-559	CLIP-seq
MIRT1015019	hsa-miR-641	CLIP-seq
MIRT1015020	hsa-miR-197	CLIP-seq
MIRT1015021	hsa-miR-2276	CLIP-seq
MIRT1015022	hsa-miR-3194-5p	CLIP-seq
MIRT1015023	hsa-miR-3663-5p	CLIP-seq
MIRT1015024	hsa-miR-3682-5p	CLIP-seq
MIRT1015025	hsa-miR-4263	CLIP-seq
MIRT1015026	hsa-miR-4527	CLIP-seq
MIRT1015027	hsa-miR-4772-3p	CLIP-seq
MIRT1015028	hsa-miR-5096	CLIP-seq
MIRT1015029	hsa-miR-576-5p	CLIP-seq
MIRT1015030	hsa-miR-935	CLIP-seq
MIRT2234062	hsa-miR-122	CLIP-seq
MIRT1014968	hsa-miR-2682	CLIP-seq
MIRT2234063	hsa-miR-3135b	CLIP-seq
MIRT2234064	hsa-miR-3151	CLIP-seq
MIRT1014973	hsa-miR-320a	CLIP-seq
MIRT1014974	hsa-miR-320b	CLIP-seq
MIRT1014975	hsa-miR-320c	CLIP-seq
MIRT1014976	hsa-miR-320d	CLIP-seq
MIRT1014977	hsa-miR-34a	CLIP-seq
MIRT1014978	hsa-miR-34c-5p	CLIP-seq
MIRT2234065	hsa-miR-3652	CLIP-seq
MIRT2234066	hsa-miR-4279	CLIP-seq
MIRT1014986	hsa-miR-4429	CLIP-seq
MIRT2234067	hsa-miR-4430	CLIP-seq
MIRT2234068	hsa-miR-4469	CLIP-seq
MIRT1014987	hsa-miR-449a	CLIP-seq
MIRT1014988	hsa-miR-449b	CLIP-seq
MIRT1014989	hsa-miR-449c	CLIP-seq
MIRT1014991	hsa-miR-4514	CLIP-seq
MIRT1014994	hsa-miR-4645-5p	CLIP-seq
MIRT1014996	hsa-miR-4673	CLIP-seq
MIRT1014997	hsa-miR-4692	CLIP-seq
MIRT2234069	hsa-miR-486-3p	CLIP-seq
MIRT1015005	hsa-miR-548a-5p	CLIP-seq
MIRT1015006	hsa-miR-548ab	CLIP-seq
MIRT1015007	hsa-miR-548ak	CLIP-seq
MIRT1015008	hsa-miR-548b-5p	CLIP-seq
MIRT1015009	hsa-miR-548c-5p	CLIP-seq
MIRT1015010	hsa-miR-548d-5p	CLIP-seq
MIRT1015011	hsa-miR-548h	CLIP-seq
MIRT1015012	hsa-miR-548i	CLIP-seq
MIRT1015013	hsa-miR-548j	CLIP-seq
MIRT1015014	hsa-miR-548k	CLIP-seq
MIRT1015015	hsa-miR-548l	CLIP-seq
MIRT1015016	hsa-miR-548w	CLIP-seq
MIRT1015017	hsa-miR-548y	CLIP-seq
MIRT1015018	hsa-miR-559	CLIP-seq
MIRT2234070	hsa-miR-642a	CLIP-seq
MIRT2234071	hsa-miR-720	CLIP-seq
MIRT2388400	hsa-miR-144	CLIP-seq
MIRT2388401	hsa-miR-181a	CLIP-seq
MIRT2388402	hsa-miR-181b	CLIP-seq
MIRT2388403	hsa-miR-181c	CLIP-seq
MIRT2388404	hsa-miR-181d	CLIP-seq
MIRT2388405	hsa-miR-204	CLIP-seq
MIRT2388406	hsa-miR-211	CLIP-seq
MIRT1014968	hsa-miR-2682	CLIP-seq
MIRT1014973	hsa-miR-320a	CLIP-seq
MIRT1014974	hsa-miR-320b	CLIP-seq
MIRT1014975	hsa-miR-320c	CLIP-seq
MIRT1014976	hsa-miR-320d	CLIP-seq
MIRT1014977	hsa-miR-34a	CLIP-seq
MIRT1014978	hsa-miR-34c-5p	CLIP-seq
MIRT2388407	hsa-miR-4262	CLIP-seq
MIRT2388408	hsa-miR-4272	CLIP-seq
MIRT1014986	hsa-miR-4429	CLIP-seq
MIRT1014987	hsa-miR-449a	CLIP-seq
MIRT1014988	hsa-miR-449b	CLIP-seq
MIRT1014989	hsa-miR-449c	CLIP-seq
MIRT1014991	hsa-miR-4514	CLIP-seq
MIRT1014994	hsa-miR-4645-5p	CLIP-seq
MIRT1014996	hsa-miR-4673	CLIP-seq
MIRT1014997	hsa-miR-4692	CLIP-seq
MIRT1014959	hsa-miR-1343	CLIP-seq
MIRT2450148	hsa-miR-3150a-5p	CLIP-seq
MIRT2450149	hsa-miR-3150b-5p	CLIP-seq
MIRT2450150	hsa-miR-4722-3p	CLIP-seq
MIRT2450151	hsa-miR-4763-5p	CLIP-seq
MIRT2450152	hsa-miR-498	CLIP-seq
MIRT2450153	hsa-miR-596	CLIP-seq
MIRT1014959	hsa-miR-1343	CLIP-seq
MIRT2450148	hsa-miR-3150a-5p	CLIP-seq
MIRT2450149	hsa-miR-3150b-5p	CLIP-seq
MIRT2450152	hsa-miR-498	CLIP-seq

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0005515	Function	Protein binding	IPI	28514442, 32296183, 33961781
GO:0005794	Component	Golgi apparatus	IEA
GO:0006024	Process	Glycosaminoglycan biosynthetic process	TAS	8449405
GO:0006486	Process	Protein glycosylation	IEA
GO:0006486	Process	Protein glycosylation	IMP	12424189
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IBA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IMP	21750175
GO:0007275	Process	Multicellular organism development	TAS	9134435
GO:0008109	Function	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	IEA
GO:0008109	Function	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	IMP	12424189
GO:0008109	Function	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	TAS	8449405
GO:0008194	Function	UDP-glycosyltransferase activity	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	ISS
GO:0008375	Function	Acetylglucosaminyltransferase activity	IBA
GO:0009101	Process	Glycoprotein biosynthetic process	IEA
GO:0010608	Process	Post-transcriptional regulation of gene expression	IMP	21750175
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	IMP	21750175
GO:0010812	Process	Negative regulation of cell-substrate adhesion	IMP	21750175
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	8449405
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0030335	Process	Positive regulation of cell migration	IMP	21750175
GO:0034116	Process	Positive regulation of heterotypic cell-cell adhesion	IMP	21750175
GO:0036438	Process	Maintenance of lens transparency	IMP	12424189
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP	21750175
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IMP	21750175

MIM	HGNC	e!Ensembl
600429	4204	ENSG00000111846

Q8N0V5

Protein name

N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase (N-acetylglucosaminyltransferase) (EC 2.4.1.150) (I-branching enzyme) (IGNT)

Protein function

Branching enzyme that converts linear into branched poly-N-acetyllactosaminoglycans. Introduces the blood group I antigen during embryonic development. It is closely associated with the development and maturation of erythroid cells. {ECO:0000269

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02485	Branch	97 → 358	Core-2/I-Branching enzyme	Family

Tissue specificity

TISSUE SPECIFICITY: [Isoform B]: Expressed in lens epithelium cells. {ECO:0000269|PubMed:12424189}.; TISSUE SPECIFICITY: [Isoform C]: Expressed in reticulocytes. {ECO:0000269|PubMed:12468428}.

Sequence

MMGSWKHCLFSASLISALIFVFVYNTELWENKRFLRAALSNASLLAEACHQIFEGKVFYP
TENALKTTLDEATCYEYMVRSHYVTETLSEEEAGFPLAYTVTIHKDFGTFERLFRAIYMP
QNVYCVHLDQKATDAFKGAVKQLLSCFPNAFLASKKESVVYGGISRLQADLNCLEDLVAS
EVPWKYVINTCGQDFPLKTNREIVQYLKGFKGKNITPGVLPPDHAVGRTKYVHQELLNHK
NSYVIKTTKLKTPPPHDMVIYFGTAYVALTRDFANFVLQDQLALDLLSWSKDTYSPDEHF
WVTLNRIPGVPGSMPNASWTGNLRAIKWSDMEDRHGGCHGHYVHGICIYGNGDLKWLVNS
PSLFANKFELNTYPLTVECLELRHRERTLNQSETAIQPSWYF

Sequence length

402

Interactions

View interactions

	KEGG
	Glycosphingolipid biosynthesis - lacto and neolacto series Metabolic pathways

156

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ADULT i BLOOD GROUP PHENOTYPE	Pathogenic	rs137853339, rs137853340	RCV000009702 RCV000009703
Cataract 13 with adult I phenotype	Pathogenic; Likely pathogenic	rs185805779, rs2127444957, rs56141211, rs756999080, rs949335475, rs1184095219, rs148284531	RCV001376182 RCV001957678 RCV000009699 RCV003627553 RCV000692516 RCV000692059 RCV001047410
Developmental cataract	Pathogenic; Likely pathogenic	rs1114167313, rs1114167314	RCV000490781 RCV000490793
GCNT2-related disorder	Pathogenic	rs185805779	RCV004756226

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign	rs77616261	RCV005914733
Adult i blood group with or without congenital cataract	Uncertain significance; Likely benign	rs754179557, rs139647870, rs886060912, rs781422504, rs886060900, rs886060909, rs9460953	RCV000405183 RCV000311882 RCV000389677 RCV000341650 RCV000387849 RCV000359240 RCV000406508
Blood group, I system	Uncertain significance; Benign; Conflicting classifications of pathogenicity; Likely benign	rs1085307067, rs2230906, rs78667015, rs12660274, rs886060901, rs886060902, rs564517, rs35318346, rs139955928, rs2230907, rs113642669, rs762078028, rs886060904, rs886060905, rs80071169 View all (72 more)	RCV000490409 RCV000390728 RCV001151220 RCV000333988 RCV000329871 RCV000280412 RCV000335478 RCV000312665 RCV000263227 RCV000318386 RCV000324099 RCV000384400 RCV000290032 RCV000344767 RCV000295835 RCV000353939 RCV000384021 RCV000371490 RCV000286428 RCV000307868 RCV000367394 RCV000354459 RCV000259601 RCV000378698 RCV000405963 RCV000395314 RCV000295434 RCV000375015 RCV000283024 RCV000397293 RCV000350717 RCV000329431 RCV000289554 RCV000325898 RCV000274647 RCV000375081 RCV000347397 RCV000404839 RCV000362677 RCV000284082 RCV000320397 RCV000357275 RCV000299116 RCV000268567 RCV000323723 RCV000265046 RCV000348419 RCV000280612 RCV001154177 RCV001154178 RCV001154179 RCV001154180 RCV001155015 RCV001155016 RCV001156674 RCV001156675 RCV001156676 RCV001156677 RCV001151216 RCV001151217 RCV001151221 RCV001154290 RCV001154291 RCV001154292 RCV001155125 RCV001155126 RCV001155127 RCV001156790 RCV001156791 RCV001156792 RCV001156793 RCV001151343 RCV001151344 RCV001151345 RCV001154384 RCV001154385 RCV001154386 RCV001154387 RCV001154388 RCV001155227 RCV001155228 RCV001155229 RCV001155230 RCV001156886 RCV001156887 RCV001151218 RCV001151219
Clear cell carcinoma of kidney	Likely benign	rs77616261	RCV005914735
Colorectal cancer	Likely benign; Benign	rs77616261, rs2230906	RCV005914736 RCV005892507
Gastric cancer	Likely benign	rs77616261	RCV005914737
Hepatocellular carcinoma	Likely benign	rs77616261	RCV005914734
Lung cancer	Likely benign	rs77616261	RCV005914738

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	26678556
Cataract	Associate	21541272, 26622071, 27609212, 28839118, 29914532
Hypoxia	Inhibit	36174713
Leukemia Lymphoma Adult T Cell	Associate	29794791
Lymphoma T Cell Cutaneous	Associate	29794791
Melanoma	Associate	36174713
Mycosis Fungoides	Associate	29794791
Neoplasms	Associate	29794791
Nerve Degeneration	Inhibit	24866057
Prostatic Neoplasms	Associate	26678556
Stomach Neoplasms	Associate	32799763

GCNT2 (glucosaminyl (N-acetyl) transferase 2 (I blood group))