2. Gene
  3. B3GALNT2 - beta-1,3-N-acetylgalactosaminyltransferase 2 Gene

B3GALNT2 - beta-1,3-N-acetylgalactosaminyltransferase 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as MDDGA11; B3GalNAc-T2

Gene ID: 148789 | Gene type: protein coding

About B3GALNT2

Cytogenetic location: 1q42.3 Genomic coordinates (GRCh38): 1:235,439,796-235,504,452 (from NCBI)

This gene has 10 transcripts (splice variants), 1 gene allele, 200 orthologues, 15 paralogues and is associated with 5 phenotypes. Ubiquitous expression in prostate (RPKM 6.9), esophagus (RPKM 6.9) and 25 other tissues.

Summary

This gene encodes a member of the glycosyltransferase 31 family. The encoded protein synthesizes GalNAc:beta-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2013]

B3GALNT2 Products(2)

mRNA Protein Name
NM_001277155.3 NP_001264084.1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform 2 precursor
NM_152490.5 NP_689703.1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform 1 precursor

B3GALNT2 Protein Structure

Galactosyl_T

Galactosyl_T: Galactosyltransferase (308 - 455)

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Protein Preferred Names Protein Names

UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2

UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2

Recombinant B3GALNT2 Proteins

Cat. No. Product Name Accession Purity
HY-P79100 B3GALNT2 Protein, Human (CHO, His) Q8NCR0-1 (G35-R500) ≥95%

Related Diseases

Diseases Alias
Muscular Dystrophy-Dystroglycanopathy , Type A, 11

MDDGA11

Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies, Type A, 11

Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, B3galnt2-Related

Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A11

Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease B3galnt2-Related
Congenital Muscular Dystrophy-Dystroglycanopathy Type A11

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A11

Mddga11

Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease B3galnt2-Related

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A11
Muscle Eye Brain Disease

Muscle-Eye-Brain Disease

Muscle-Eye-Brain Syndrome

Meb

Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A3

Meb Syndrome

Santavuori Congenital Muscular Dystrophy
Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid
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, 1b

MDC1B

Congenital Muscular Dystrophy 1b

Cmd1b

Congenital Muscular Dystrophy Type 1b

Familial Dilated Cardiomyopathy
Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy
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
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
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
Cobblestone Lissencephaly

Lissencephaly Type 2

Lissencephaly, Cobblestone
Muscular Dystrophy-Dystroglycanopathy

Cmd Due To Dystroglycanopathy

Congenital Muscular Dystrophy Due To Dystroglycanopathy

Mddg

Dystrophy, Muscular, Dystroglycanopathy
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
Congenital Muscular Dystrophy-Dystroglycanopathy Type A3

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A3

Mddga3

Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomgnt1-Related

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A3
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
Lissencephaly

Pachygyria

Broad Gyri Of Cerebrum

Large Gyri Of Cerebrum

Macrogyria
Muscular Dystrophy-Dystroglycanopathy , Type C, 3

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2o

MDDGC3

Lgmd2o

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 15

Lgmdr15

Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomgnt1-Related

Muscular Dystrophy, Limb-Girdle, Type 2o

Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomgnt1-Related

Muscular Dystrophy-Dystroglycanopathy Type C3

Pomgnt1-Related Limb-Girdle Muscular Dystrophy R15

Lgmd Type 2o

Limb-Girdle Muscular Dystrophy Type 2o

Pomgnt1-Related Lgmd R15

Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C3

Dystrophy, Muscular, Limb-Girdle, Type 2o
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

Lgmd2b

Muscular Dystrophy, Limb-Girdle, Type 2b

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e

Beta-Sarcoglycanopathy

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y

Muscular Dystrophy, Limb-Girdle, Type 3

Lgmd3

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s

LGMDR2

Muscular Dystrophy, Limb-Girdle, Type 2s

Limb-Girdle Muscular Dystrophy Type 2b

Lgmd2e

Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency

Muscular Dystrophy, Limb-Girdle, Type 2e

Lgmd2s

Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency

Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency

Lgmd2y

Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine

Muscular Dystrophy, Limb-Girdle, Type 2y

Dysferlin-Related Limb-Girdle Muscular Dystrophy R2

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Dysferlin-Related Lgmd R2

Lgmd Due To Dysferlin Deficiency

Lgmd Type 2b

Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency

Limb-Girdle Muscular Dystrophy 2b

Limb-Girdle Muscular Dystrophy, Type 2b

Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2

Dystrophy, Muscular, Limb-Girdle, Type 2b

Limb-Girdle Muscular Dystrophy, Type 2e
Hydranencephaly

Hydroanencephaly
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
Autosomal Recessive Limb-Girdle Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
Periventricular Nodular Heterotopia

Periventricular Heterotopia

Pvnh

Familial Nodular Heterotopia

Heterotopia, Periventricular

Periventricular Heterotopia, X-Linked
Congenital Myasthenic Syndrome

Congenital Myasthenia

Congenital Myasthenic Syndromes

Cms

Myasthenic Syndromes, Congenital

Myasthenic Syndromes Congenital

Myasthenic Syndrome, Congenital

Congenital Myasthenic Syndrome Ib

Congenital And Developmental Myasthenia

Developmental Myasthenia
West Syndrome

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder
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
Bioactive Molecules (2)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-E70139 UDP-GalNAc:β-1,3-N-acetylgalactosaminyltransferase 2 / Unkown
HY-RS01301 B3GALNT2 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus B3GALNT2 RGD RGD:1306946
Felis catus B3GALNT2 VGNC VGNC:60054
Macaca mulatta B3GALNT2 VGNC VGNC:109509
Canis familiaris B3GALNT2 VGNC VGNC:38332
Bos taurus B3GALNT2 VGNC VGNC:26371
Mus musculus B3GALNT2 MGD MGI:2145517