B3GNT2 (UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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10678 |
Gene nameGene Name - the full gene name approved by the HGNC.
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UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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B3GNT2 |
SynonymsGene synonyms aliases
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3-Gn-T1, 3-Gn-T2, B3GN-T2, B3GNT, B3GNT-2, B3GNT1, BETA3GNT, BGNT2, BGnT-2, beta-1, beta3Gn-T1, beta3Gn-T2 |
ChromosomeChromosome number
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2 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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2p15 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It prefers the substrate of lacto-N-neotetraose, and is involved in the biosynthesis of poly-N-acetyllactosamine chains. Two |
miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
Q9NY97 |
Protein name |
N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2 (EC 2.4.1.149) (Beta-1,3-N-acetylglucosaminyltransferase 1) (BGnT-1) (Beta-1,3-Gn-T1) (Beta3Gn-T1) (Beta-1,3-galactosyltransferase 7) (Beta-1,3-GalTase 7) (Beta3Gal-T7) (Beta3GalT7) (b3Gal-T |
Protein function |
Beta-1,3-N-acetylglucosaminyltransferase involved in the synthesis of poly-N-acetyllactosamine. Catalyzes the initiation and elongation of poly-N-acetyllactosamine chains. Shows a marked preference for Gal(beta1-4)Glc(NAc)-based acceptors (PubMe |
PDB |
6WMM
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6WMN
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6WMO
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7JHK
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7JHL
,
7JHM
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7JHN
,
7JHO
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8SZ3
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8TIC
,
8TJC
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF01762 |
Galactosyl_T |
156 → 351 |
Galactosyltransferase |
Family |
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Sequence |
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Sequence length |
397 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 |
rs119463990, rs587777813, rs398123555, rs119463996, rs587777748, rs119463991, rs119463992, rs119464997, rs267606814, rs119463989, rs533916138, rs587777815, rs200198778, rs267606969, rs267606963, rs267606964, rs267606965, rs267606966, rs267606970, rs587777816, rs918556979, rs28941782, rs119462981, rs587777817, rs587777818, rs119462982, rs587777819, rs587777820, rs398124245, rs587777821, rs193919335, rs386834017, rs28942068, rs193919336, rs587777822, rs267606961, rs386834035, rs104894679, rs104894680, rs28937902, rs28937903, rs28937904, rs104894691, rs104894692, rs104894684, rs267607209, rs267607210, rs387907299, rs752069645, rs397514543, rs150736997, rs397514545, rs397514546, rs367543076, rs367543070, rs367543073, rs397514695, rs397514696, rs397509385, rs386834012, rs386834025, rs386834032, rs386834038, rs397509422, rs397509423, rs202160208, rs398123557, rs200056620, rs398124247, rs398124395, rs587777223, rs367543069, rs367543075, rs587777423, rs587777798, rs606231306, rs537001725, rs730882237, rs745738628, rs869320680, rs772370177, rs886041004, rs886041907, rs767865405, rs543163491, rs761821795, rs886043110, rs772950604, rs886044083, rs1057516986, rs1057517247, rs773884973, rs1057516258, rs1057517160, rs1057516966, rs370819786, rs750176716, rs766169193, rs1064793673, rs1553618354, rs1555356398, rs141588721, rs1553347936, rs1290836394, rs777437871, rs761071115, rs1554754182, rs1247934219, rs1326631351, rs1250351189, rs757347274, rs1554778005, rs1553342786, rs1301397800, rs374042455, rs1268759044, rs770219373, rs1553163077, rs1553162872, rs1554761310, rs1554766808, rs1554748292, rs1554752805, rs1554761402, rs1309132512, rs1554761462, rs557699482, rs1555738502, rs748087383, rs754403441, rs780433836, rs1569112355, rs1564341846, rs1282726649, rs755487513, rs1057520771, rs756973046, rs1557673817, rs1565899712, rs750453909, rs1572513308, rs1021357430, rs748798133, rs764784497, rs1588112379, rs746823238, rs1575461722, rs780725241, rs760816239, rs2089839448, rs1379052702, rs150877512, rs768144522 |
23877401 |
Rheumatoid arthritis |
Rheumatoid Arthritis |
rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212 |
22446963 |
Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 |
23904455 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Graves disease |
Graves Disease |
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22446963 |
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