AutismKB 2.0

Annotation Detail for B3GNT2


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Basic Information Top
Gene Symbol:B3GNT2 ( B3GN-T2,B3GNT,B3GNT-2,B3GNT1,BETA3GNT,BGNT2,BGnT-2 )
Gene Full Name: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2
Band: 2p15
Quick LinksEntrez ID:10678; OMIM: 605581; Uniprot ID:B3GN2_HUMAN; ENSEMBL ID: ENSG00000170340; HGNC ID: 15629
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa00601Glycosphingolipid biosynthesis - lacto and neolacto series
hsa00533Glycosaminoglycan biosynthesis - keratan sulfate
hsa01100Metabolic pathways
No data
No data
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1848Embryoma
2106Pancreas cancer
No data
Desease Name
Ankylosing spondylitis
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C472791 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid results in decreased expression of B3GNT2 mRNAdecreases expression 16788091
C475919 hydroxytamoxifen hydroxytamoxifen results in increased expression of B3GNT2 mRNAincreases expression 16849584
D007632 Keratan Sulfate B3GNT2 protein results in increased chemical synthesis of Keratan Sulfateincreases chemical synthesis 12218059
D014212 Tretinoin Tretinoin results in decreased expression of B3GNT2 mRNAdecreases expression 16788091
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000505 Alopecia Tretinoin 3.9415955085
MESH:D001169 Arthritis, Experimental Tretinoin 3.3016412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.3316292516
MESH:D001249 Asthma Tretinoin 2.4316456186
MESH:D001471 Barrett Esophagus Tretinoin 4.9116935849
MESH:D001778 Blood Coagulation Disorders Tretinoin 4.0316206674 16197459
MESH:D001943 Breast Neoplasms Tretinoin 2.2316443354 16873071 16166294
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 5.2216813970
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.8816168501
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 1.921917145
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 2.3716051514 16096774
MESH:D002386 Cataract Tretinoin 3.3017460283
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 5.2216129372
MESH:D002822 Choriocarcinoma Tretinoin 5.8816461808
MESH:D002972 Cleft Palate Tretinoin 2.809407595
MESH:D003092 Colitis Tretinoin 4.2617035595
MESH:D019465 Craniofacial Abnormalities Tretinoin 1.8310589399 9224671 9125849 9142499 14991402 16925845 17551590 9211117 9664655 8800419
MESH:D004489 Edema, Cardiac Tretinoin 5.1918230668
MESH:D016889 Endometrial Neoplasms Tretinoin 3.3516569247
MESH:D005124 Eye Abnormalities Tretinoin 3.8716938888 9664655
MESH:D005355 Fibrosis Tretinoin 4.0717994277
MESH:D005909 Glioblastoma Tretinoin 3.2417312396
MESH:D006258 Head and Neck Neoplasms Tretinoin 3.4416096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.8816084493
MESH:D006330 Heart Defects, Congenital Tretinoin 3.0714991402 9664655
MESH:D006930 Hyperalgesia Tretinoin 3.5316870215
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 5.1316778211
MESH:D007410 Intestinal Diseases Tretinoin 4.3317994277
MESH:D007569 Jaw Abnormalities Tretinoin 4.3315992940 17551590
MESH:D007938 Leukemia Tretinoin 2.9317143497
MESH:D007951 Leukemia, Myeloid Tretinoin 4.1216932348 16482212 19285840
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 2.1219850784 16294345 17596541
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 3.3916140955 19075265 19029980 16823087 17217047 17361223 19225113 17649720 12679006 17294898 17506722 16935935 9834237 17301526 17368321 16891316 19642359 17339181 16766008 17712046 19035177 15748426 16788101 17107899 16331271
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.589224671
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 1.8116248980 18397230
MESH:D008527 Medulloblastoma Tretinoin 2.9117453147
MESH:D008545 Melanoma Tretinoin 1.9816752155
MESH:D008591 Meningomyelocele Tretinoin 4.9916940565
MESH:D009190 Myelodysplastic Syndromes Tretinoin 3.2817596541
MESH:D009369 Neoplasms Tretinoin 2.5716594593 16946489
MESH:D009421 Nervous System Malformations Tretinoin 4.289125849
MESH:D009436 Neural Tube Defects Tretinoin 3.299142499
MESH:D010051 Ovarian Neoplasms Tretinoin 2.4416936753
MESH:D010146 Pain Tretinoin 3.2416870215
MESH:D010190 Pancreatic Neoplasms Tretinoin 2.5715976015
MESH:D011507 Proteinuria Tretinoin 4.0716636307
MESH:D011625 Pterygium Tretinoin 5.4216723453
MESH:D012208 Rhabdomyosarcoma Tretinoin 4.5616283617 16116481
MESH:D012878 Skin Neoplasms Tretinoin 2.7616467112
MESH:D013274 Stomach Neoplasms Tretinoin 1.8017261132
MESH:D013964 Thyroid Neoplasms Tretinoin 3.3316026305 17045167
MESH:D014062 Tongue Neoplasms Tretinoin 4.1816051514
MESH:D014376 Tuberculosis Tretinoin 3.4516040207
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 4.0716129372
MESH:D014604 Uveal Neoplasms Tretinoin 5.3316752155
MESH:D014820 Vitiligo Tretinoin 4.5616761959
MESH:D009396 Wilms Tumor Tretinoin 4.3416287080
Pathway ID Pathway Name
KEGG:00533 Glycosaminoglycan biosynthesis - keratan sulfate
KEGG:00601 Glycosphingolipid biosynthesis - lacto and neolacto series
KEGG:01100 Metabolic pathways
KEGG:00512 Mucin type O-Glycan biosynthesis
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA25218
    • Releated gene ID Related gene Name
    PA25218B3GNT2
    No data
    No data
    Drug Bank Top

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    Syndromic Genes

    Non-syndromic Genes

    AutismKB Statistics

    • Studies: 1,036
    • Genes: 1,379
    • CNVs/SVs: 5,420
    • SNVs/Indels: 11,669
    • de novo Mutations: 5,669
    • Mosaics: 789
    • Linkage Regions: 172
    • Paper Collected: 6/30/2018
    • Last Update: 8/26/2018


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