B3GNT2 - UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 Gene

Also Known as B3GNT; BGNT2; B3GNT1; BGnT-2; beta-1; 3-Gn-T1; 3-Gn-T2; B3GN-T2; B3GNT-2; BETA3GNT; beta3Gn-T1; beta3Gn-T2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10678

About B3GNT2

Cytogenetic location: 2p15 Genomic coordinates (GRCh38): 2:62,196,115-62,224,731 (from NCBI)

This gene has 2 transcripts (splice variants), 272 orthologues and 15 paralogues. Ubiquitous expression in bone marrow (RPKM 26.9), lung (RPKM 19.0) and 25 other tissues.

Summary

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 transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2016]

B3GNT2 Products (2)

mRNA	Protein	Name
NM_001319075.2	NP_001306004.1	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2
NM_006577.6	NP_006568.2	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	IDA IDA: Inferred from direct assay	9892646	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	18826941	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in poly-N-acetyllactosamine biosynthetic process	IDA IDA: Inferred from direct assay	9892646	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

B3GNT2 Protein Structure

Galactosyl_T

0
100
200
300
397 a.a.

Protein Preferred Names	Protein Names
N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1

B3GNT2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	B3GNT2	Q9NY97	B3GNT8	Homo sapiens	Q7Z7M8	Glycosylase Assay	18826941
Intra	B3GNT2	Q9NY97	B3GNT8	Homo sapiens	Q7Z7M8	Anti Tag CoIP	18826941

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant B3GNT2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76160	B3GNT2 Protein, Human (HEK293, Fc)	Q9NY97-1 (K29-C397)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Muscular Dystrophy-Dystroglycanopathy , Type B, 1	MDDGB1 Muscular Dystrophy-Dystroglycanopathy , Type B1 Muscular Dystrophy, Congenital, Pomt1-Related Muscular Dystrophy-Dystroglycanopathy Type B1 Cmd Due To Dystroglycanopathy Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B1 Muscular Dystrophy Congenital Pomt1-Related Muscular Dystrophy-Dystroglycanopathy Dystrophy, Muscular, Dystroglycanopathy , Type B1
Muscle Tissue Disease
Muscular Dystrophy-Dystroglycanopathy , Type B, 6	Muscular Dystrophy-Dystroglycanopathy Type B6 MDDGB6 Mdc1d Muscular Dystrophy, Congenital, Type 1d Congenital Muscular Dystrophy Type 1d Dystrophy, Muscular, Dystroglycanopathy , Type B6 Muscular Dystrophy, Congenital, Large-Related Congenital Muscular Dystrophy Large-Related Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B6 Muscular Dystrophy Large-Related
Kidney Fibrosarcoma	Fibrosarcoma Of The Kidney
Muscular Dystrophy-Dystroglycanopathy , Type C, 4	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2m Lgmd2m MDDGC4 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 13 Lgmdr13 Muscular Dystrophy, Limb-Girdle, Type 2m Muscular Dystrophy-Dystroglycanopathy Type C 4 Fukutin-Related Limb-Girdle Muscular Dystrophy R13 Autosomal Recessive Lgmd Type 2m Fukutin-Related Lgmd R13 Lgmd Type 2m Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C4 Limb-Girdle Muscular Dystrophy Type 2m Mdgd4c Muscular Dystrophy Due To Defective Glycosylation Of Dystroglycan 4c Dystrophy, Muscular, Limb-Girdle, Type 2m
Congenital Muscular Dystrophy-Dystroglycanopathy Type A	Congenital Muscular Alpha-Dystroglycanopathy With Brain And Eye Anomalies Mddga Klissencephaly Type 2 With Muscular And Ocular Involvement Lissencephaly Type 2 With Muscular And Ocular Involvement
Congenital Disorder Of Glycosylation, Type Iia	CDG2A Congenital Disorder Of Glycosylation Type Iia Cdg Iia Cdgiia Congenital Disorder Of Glycosylation Type 2a Alkuraya Syndrome Mental Retardation, Growth Retardation, Prominent Columella, And Open Mouth Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii Mgat2-Cdg Cdg-Iia Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii, Formerly Cdgs2, Formerly Cdgs2 Cdg Syndrome Type Iia Carbohydrate Deficient Glycoprotein Syndrome Type Iia N-Acetylglucosaminyltransferase 2 Deficiency Congenital Disorder Of Glycosylation 2a Carbohydrate-Deficient Glycoprotein Syndrome Type Ii Cdgs Type Ii Carbohydrate-Deficient Glycoprotein Syndrome Type 2 Glycosylation, Congenital Disorder Of, Type Iia
Muscular Disease
Physical Disorder	Physical Illness
Muscular Dystrophy-Dystroglycanopathy , Type B, 5	Mdc1c Muscular Dystrophy-Dystroglycanopathy Type B5 MDDGB5 Muscular Dystrophy, Congenital, 1c Muscular Dystrophy, Congenital, Fkrp-Related Congenital Muscular Dystrophy 1c Fkrp-Related Congenital Muscular Dystrophy Muscular Dystrophy-Dystroglycanopathy Congenital With Or Without Impaired Intellectual Development B5 Muscular Dystrophy Congenital Type 1c Muscular Dystrophy Fkrp-Related
Muscular Dystrophy-Dystroglycanopathy , Type C, 5	Lgmd2i Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i MDDGC5 Limb-Girdle Muscular Dystrophy Due To Fkrp Deficiency Limb-Girdle Muscular Dystrophy Type 2i Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 9 Lgmdr9 Muscular Dystrophy, Limb-Girdle, Type 2i Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Frkp-Related Fkrp-Related Limb-Girdle Muscular Dystrophy R9 Fkrp-Related Lgmd R9 Lgmd Due To Fkrp Deficiency Lgmd Type 2i Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Frkp-Related Muscular Dystrophy Limb-Girdle Type 2i Muscular Dystrophy-Dystroglycanopathy Type C 5 Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C5 Dystrophy, Muscular, Limb-Girdle, Type 2i
Muscular Dystrophy-Dystroglycanopathy , Type A, 4	Fukuyama Congenital Muscular Dystrophy Fcmd MDDGA4 Fukuyama Type Congenital Muscular Dystrophy Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fktn-Related Cerebromuscular Dystrophy, Fukuyama Type Fukuyama Cmd Fukuyama Muscular Dystrophy Fukuyama Syndrome Muscular Dystrophy, Congenital Progressive, With Mental Retardation Muscular Dystrophy, Congenital, Fukuyama Type Muscular Dystrophy, Congenital, With Central Nervous System Involvement Polymicrogyria With Muscular Dystrophy Congenital Muscular Dystrophy, Fukuyama Type Fktn-Related Congenital Muscular Dystrophy Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A4 Cerebromuscular Dystrophy Fukuyama Type Congenital Muscular Dystrophy Fukuyama Type Micropolygyria With Muscular Dystrophy Muscle-Eye-Brain Disease Fktn-Related Walker-Warburg Syndrome Fktn-Related
Dowling-Degos Disease	Reticular Pigment Anomaly Of Flexures Dark Dot Disease Reticulate Acropigmentation Of Kitamura Dowling-Degos Kitamura Disease Kitamura Reticulate Acropigmentation Ddd Dowling-Degos-Kitamura Disease Reticular Pigmented Anomaly Of Flexures
Nemaline Myopathy 11, Autosomal Recessive	NEM11 Nemaline Myopathy 11
Cardiomyopathy, Dilated, 1kk	Cardiomyopathy, Familial Restrictive, 4 Dilated Cardiomyopathy 1kk CMD1KK Cardiomyopathy, Hypertrophic, 22 Cardiomyopathy, Dilated 1kk Cardiomyopathy, Familial Hypertrophic 22 CMH22 Cardiomyopathy, Familial Restrictive 4 RCM4 Familial Hypertrophic Cardiomyopathy 22 Cardiomyopathy, Dilated, Type 1kk Cardiomyopathy, Familial Hypertrophic, 22
Hydrophthalmos
Walker-Warburg Syndrome	Hard Syndrome Walker-Warburg Congenital Muscular Dystrophy Cerebroocular Dysplasia-Muscular Dystrophy Syndrome Cod-Md Syndrome Chemke Syndrome Hydrocephalus, Agyria And Retinal Dysplasia Cerebroocular Dysgenesis Cerebroocular Dysplasia Muscular Dystrophy Syndrome Hard +/- E Syndrome Pagon Syndrome Warburg Syndrome Hydrocephalus, Agyria, And Retinal Dysplasia Mddga Muscular Dystrophy-Dystroglycanopathy , Type A Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A Hydrocephalus-Agyria-Retinal Dysplasia Syndrome Wws Dystrophy, Muscular, Dystroglycanopathy, Type A
Muscular Dystrophy, Congenital, Lmna-Related	Congenital Muscular Dystrophy Congenital Muscular Dystrophy Due To Lmna Mutation MDCL L-Cmd Lmna-Related Congenital Muscular Dystrophy Muscular Dystrophy, Congenital Congenital Muscular Dystrophy Lmna-Related Lmna-Related Cmd Cmd Mdc Muscular Dystrophy Congenital Lmna-Related Dystrophy, Muscular, Congenital, Lmna-Related Dystrophy, Muscular, Congenital Hereditary Muscular Dystrophy Congenital Hereditary Muscular Dystrophy Congenital Progressive Muscular Dystrophy Hereditary Progressive Muscular Dystrophy
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic Cardiomyopathy 9 CMH9 Cardiomyopathy, Familial Hypertrophic 9 Cardiomyopathy, Hypertrophic, Familial, Type 9
Rigid Spine Muscular Dystrophy 1	Rigid Spine Syndrome RSMD1 Rss Mdrs1 Eichsfeld Type Congenital Muscular Dystrophy Desmin-Related Myopathy With Mallory Bodies Classic Multiminicore Myopathy Sepn1-Related Myopathy Multicore Myopathy, Severe Classic Form Minicore Myopathy, Severe Classic Form Multiminicore Disease, Severe Classic Form Muscular Dystrophy, Rigid Spine, 1 Classic Mmd Classic Multiminicore Disease Congenital Merosin-Positive Muscular Dystrophy With Early Spine Rigidity Desmin-Related Myopathy With Mallory Body-Like Inclusions Early-Onset Desmin-Related Myopathy Myopathy, Sepn1-Related Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity Muscular Dystrophy, Congenital, Eichsfeld Type Severe Classic Form Minicore Myopathy Severe Classic Form Multicore Myopathy Severe Classic Form Multiminicore Disease Desmin-Related Myopathies With Mallory Bodies Muscular Dystrophy, Congenital, Merosin Positive With Early Spine Rigidity Rigid Spine Muscular Dystrophy-1 Rigid Spine Congenital Muscular Dystrophy Congenital Muscular Dystrophy Eichsfeld Type Congenital Muscular Dystrophy Merosin-Positive With Early Spine Rigidity Minicore Myopathy Severe Classic Form Multicore Myopathy Severe Classic Form Multiminicore Disease Severe Classic Form Dystrophy, Muscular, Rigid Spine, Type 1
Glaucoma 3, Primary Congenital, A	Buphthalmos Glaucoma, Congenital Congenital Glaucoma Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, Or Adult Onset GLC3A Glc3 Buphthalmia Primary Congenital Glaucoma Glaucoma, Primary Open Angle, Juvenile-Onset Simple Buphthalmos Buphthalmus Glaucoma, Primary Open Angle, Adult-Onset Primary Congenital Glaucoma 3a Primary Infantile Glaucoma Type 3a Glaucoma 3a, Primary Congenital Glaucoma, Congenital, Primary, Type 3a Hydrophthalmos Cystic Eyeball
Autosomal Recessive Limb-Girdle Muscular Dystrophy	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset	EMARDD Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset, Mild Variant Early-Onset Myopathy-Areflexia-Respiratory Distress-Dysphagia Syndrome Early-Onset Myopathy, Areflexia, Respiratory Distress And Dysphagia Myopathy, Early-Onset, Areflexia, Respiratory Distress, And Dysphagia
Cerebral Degeneration	Brain Degeneration Degenerative Brain Disorder
Communicating Hydrocephalus	Acquired Communicating Hydrocephalus
Retinal Arteries, Tortuosity Of	Retinal Arterial Tortuosity Retinal Hemorrhage With Vascular Tortuosity RATOR Tortuosity Of Retinal Arteries Retinal Arteriolar Tortuosity Familial Isolated Retinal Arterial Tortuosity Tortuosity, Arteries, Retinal
Carey-Fineman-Ziter Syndrome 1	Carey-Fineman-Ziter Syndrome CFZS Congenital Nonprogressive Myopathy With Moebius And Robin Sequences Myopathy, Congenital Nonprogressive, With Moebius Sequence And Robin Sequence Cfz Syndrome Carey Fineman Ziter Syndrome Myopathy, Congenital Nonprogressive With Moebius And Robin Sequences Myopathy-Moebius-Robin Syndrome CFZS1 Moebius Sequence, Robin Complex, And Hypotonia Congenital Non-Progressive Myopathy With Moebius And Robin Sequences
Congenital Disorder Of Glycosylation, Type In	Congenital Disorder Of Glycosylation CDG1N Congenital Disorders Of Glycosylation Cdg In Cdgin Congenital Disorder Of Glycosylation 1n Carbohydrate-Deficient Glycoprotein Syndrome Cdg Rft1-Cdg Cdg-In Congenital Disorder Of Glycosylation Type In Carbohydrate Deficient Glycoprotein Syndrome Cdg Syndrome Congenital Disorder Of Glycosylation In Carbohydrate-Deficient Glycoprotein Syndromes Cdg Syndrome Type In Carbohydrate Deficient Glycoprotein Syndrome Type In Congenital Disorder Of Glycosylation Type 1n Man5glcnac2-Pp-Dol Flippase Deficiency Glycosylation, Congenital Disorder Of Glycosylation, Congenital Disorder Of, Type In
Congenital Toxoplasmosis	Toxoplasmosis, Congenital Mother-To-Child Transmission Of Toxoplasmosis Toxoplasma Embryofetopathy Toxoplasma Embryopathy Toxoplasmosis - Congen. Toxoplasmosis Congenital
Syndromic X-Linked Intellectual Disability Siderius Type	Mrxssd Siderius-Hamel Syndrome Siderius X-Linked Mental Retardation Syndrome
Myopathy, Centronuclear, 1	Autosomal Dominant Centronuclear Myopathy CNM1 Centronuclear Myopathy 1 Ad-Cnm Myopathy, Centronuclear, Autosomal Dominant Myotubular Myopathy, Autosomal Dominant Centronuclear Myopathy, Autosomal, Modifier Of Autosomal Dominant Myotubular Myopathy Dnm2-Related Centronuclear Myopathy Centronuclear Myopathy Autosomal Dominant Myopathies, Structural, Congenital Myopathy, Centronuclear, Type 1
Western Equine Encephalitis	Western Equine Encephalomyelitis Wee Encephalomyelitis, Western Equine Western Equine Encephalitis Virus Infection Wee - [Western Equine Encephalitis] Western Equine Encephalitis Virus
Limb-Girdle Muscular Dystrophy	Lgmd Limb Girdle Muscular Dystrophy Muscular Dystrophies, Limb-Girdle Erb'S Muscular Dystrophy Leyden-Mbius Muscular Dystrophy Limb-Girdle Syndrome Myopathic Limb-Girdle Syndrome Limb Girdle Muscular Dystrophy Limb-Girdle Dystrophy, Muscular, Limb-Girdle Lgmd - [Limb-Girdle Muscular Dystrophy] Limb Girdle Muscle Dystrophy Limb-Girdle Myopathy
Myopathy, Myofibrillar, 6	Myofibrillar Myopathy 6 MFM6 Myopathy, Myofibrillar, Bag3-Related Bag3-Related Myofibrillar Myopathy Muscular Dystrophy, Selcen Type Mfm Bag3-Related Muscular Dystrophy Selcen Type Myopathy Myofibrillar Bag3-Related
Ras-Associated Autoimmune Leukoproliferative Disorder	RALD Autoimmune Lymphoproliferative Syndrome Type 4 Alps4 Autoimmune Lymphoproliferative Syndrome, Type Iv Ras-Associated Autoimmune Leukoproliferative Disease Ras-Associated Autoimmune Lymphoproliferative Syndrome Type Iv, Somatic Alps Type 4 Alps Type Iv Autoimmune Lymphoproliferative Syndrome Type Iv Autoimmune Lymphoproliferative Syndrome 4
Congenital Fiber-Type Disproportion	Congenital Fiber Type Disproportion Cftdm Congenital Myopathy With Fiber Type Disproportion Cftd Congenital Fiber-Type Disproportion Myopathy Fiber-Type Disproportion Myopathy, Congenital Myopathy, Congenital With Fiber-Type Disproportion
Rippling Muscle Disease 2	Rippling Muscle Disease Rmd Lgmd1c RMD2 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Muscular Dystrophy, Limb-Girdle, Type 1c Muscular Dystrophy, Limb-Girdle, Type 1c, Formerly Lgmd1c, Formerly Limb-Girdle Muscular Dystrophy Type 1c Limb-Girdle Muscular Dystrophy Due To Caveolin-3 Deficiency Muscular Dystrophy, Limb-Girdle, Type Ic Rippling Muscle Syndrome Limb-Girdle Muscular Dystrophy 1c Dystrophy, Muscular, Limb-Girdle, Type 1c Disease, Muscle, Rippling, Type 2 Rippling Muscle Disease 1
Specific Developmental Disorder
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric Septal Hypertrophy Familial Hypertrophic Cardiomyopathy Hypertrophic Cardiomyopathy 1 CMH1 Hypertrophic Cardiomyopathy 19 CMH Ventricular Hypertrophy, Hereditary Ash Hypertrophic Subaortic Stenosis, Idiopathic Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Hypertrophic, 1, Digenic Cardiomyopathy, Familial Hypertrophic 1 Hcm Hereditary Ventricular Hypertrophy Idiopathic Hypertrophic Subaortic Stenosis Hypertrophic Cardiomyopathy Cardiomyopathy, Hypertrophic, Familial Cardiomyopathy, Hypertrophic, 1 Familial Asymmetric Septal Hypertrophy Heritable Hypertrophic Cardiomyopathy Fhc Cardiomyopathy, Hypertrophic, Familial, Type 1
Peters-Plus Syndrome	Krause-Kivlin Syndrome Peters Plus Syndrome Peters Anomaly Irido-Corneo-Trabecular Dysgenesis PTRPLS Peters Anomaly With Short-Limb Dwarfism Peters Anomaly-Short Limb Dwarfism Syndrome Peters Anomaly With Short Limb Dwarfism Peters Congenital Glaucoma Krause-Van Schooneveld-Kivlin Syndrome Peters' Plus Syndrome Peters'-Plus Syndrome Anomaly Peters
Lens Disease	Lens Diseases
Lissencephaly	Pachygyria Broad Gyri Of Cerebrum Large Gyri Of Cerebrum Macrogyria
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Myopathy	Muscular Diseases Myopathies
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-149777	B3GNT2-IN-1	Inhibitor	99.56%	Unkown
HY-RS01310	B3GNT2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19501	B3gnt2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25995	B3gnt2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	B3GNT2	VGNC	VGNC:70075
Canis familiaris	B3GNT2	VGNC	VGNC:38341
Bos taurus	B3GNT2	VGNC	VGNC:102816
Mus musculus	B3GNT2	MGD	MGI:1889505
Felis catus	B3GNT2	VGNC	VGNC:60056
Rattus norvegicus	B3GNT2	RGD	RGD:1310077
Others	B3GNT2	NCBI