AutismKB 2.0

Annotation Detail for GFPT2


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Basic Information Top
Gene Symbol:GFPT2 ( FLJ10380,GFAT2 )
Gene Full Name: glutamine-fructose-6-phosphate transaminase 2
Band: 5q35.3
Quick LinksEntrez ID:9945; OMIM: 603865; Uniprot ID:GFPT2_HUMAN; ENSEMBL ID: ENSG00000131459; HGNC ID: 4242
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
UDPNACETYLGALSYN-PWYUDP-N-acetyl-D-glucosamine biosynthesis II
Pathway IDPathway Name
hsa00250Alanine, aspartate and glutamate metabolism
hsa00520Amino sugar and nucleotide sugar metabolism
hsa01100Metabolic pathways
Pathway IDPathway Name
Metabolism of proteins
No data
Pathway IDPathway Name
P02756N-acetylglucosamine metabolism
P02757O-antigen biosynthesis
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of GFPT2 mRNAincreases expression 20064835
D002084 Butylated Hydroxytoluene Butylated Hydroxytoluene results in increased expression of GFPT2 mRNAincreases expression 19925653
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in increased expression of GFPT2 mRNAincreases expression 15336504
D004041 Dietary Fats Dietary Fats results in decreased expression of GFPT2 mRNAdecreases expression 18042831
C041786 palm oil palm oil results in decreased expression of GFPT2 mRNAdecreases expression 18042831
D011374 Progesterone Progesterone results in increased expression of GFPT2 mRNAincreases expression 18037150
D014635 Valproic Acid Valproic Acid results in increased expression of GFPT2 mRNAincreases expression 19101580
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 3.888875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.2119490988
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0420464547 20127859
MESH:D000236 Adenoma Benzo(a)pyrene 2.806695378
MESH:D000550 Amblyopia Valproic Acid 5.6817688650
MESH:D001008 Anxiety Disorders Valproic Acid 3.7917497229
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.4319183758
MESH:D001161 Arteriosclerosis Dietary Fats 4.2515238619
MESH:D001321 Autistic Disorder Valproic Acid 1.9918316065 15238991 17507914 20603192 19460635 18558336 18775368 18985861 18177632 17688650 18396377 16609825 17157402 19232924 18940202
MESH:D001714 Bipolar Disorder Valproic Acid 3.2020046352 17594078
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.578888407
MESH:D020201 Brain Hemorrhage, Traumatic Progesterone 5.7817868700
MESH:D001930 Brain Injuries Progesterone 4.6215665606 15380490 15845082
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.9117474063 20146248
MESH:D001943 Breast Neoplasms Dietary Fats 1.9120435547
MESH:D001943 Breast Neoplasms Progesterone 1.9115562024 17614352 16175315
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1120419170
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7920734317
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.9016575769 8888407 17688650
MESH:D003929 Diabetic Neuropathies Progesterone 4.8517187935
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 2.231733752 19641884
MESH:D050171 Dyslipidemias Dietary Fats 3.6518367378
MESH:D004421 Dystonia Valproic Acid 4.351851702
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Progesterone 4.1117692515
MESH:D004715 Endometriosis Progesterone 4.0316134523
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.513659116 17275665
MESH:D004828 Epilepsies, Partial Valproic Acid 4.3616628512 3922381
MESH:D004827 Epilepsy Valproic Acid 3.0618234410 20417680
MESH:D004832 Epilepsy, Absence Valproic Acid 3.847562514 6254150 6426943
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.667750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.463659116
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0616530937
MESH:D005234 Fatty Liver Dietary Fats 8.8519551842 17967931 19004024 18296743
MESH:D005234 Fatty Liver Valproic Acid 8.8519224547 14986274
MESH:D005315 Fetal Diseases Valproic Acid 5.3316575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.468888407 18558336
MESH:D005355 Fibrosis Dietary Fats 3.8818296743
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.7820471113
MESH:D006849 Hydrocephalus Valproic Acid 5.2617688650
MESH:D006937 Hypercholesterolemia Dietary Fats 3.8721332399
MESH:D006949 Hyperlipidemias Dietary Fats 3.9221332399
MESH:D006967 Hypersensitivity Butylated Hydroxytoluene 4.7717604070
MESH:D020244 Infarction, Middle Cerebral Artery Progesterone 4.7615869954
MESH:D007249 Inflammation Dietary Fats 5.6220412841
MESH:D007249 Inflammation Progesterone 5.6215869954
MESH:D007333 Insulin Resistance Dietary Fats 3.2718457598 11836018
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1916294345 17596541
MESH:D008103 Liver Cirrhosis Dietary Fats 3.0118296743
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 5.2220195826 21137059
MESH:D008113 Liver Neoplasms Butylated Hydroxytoluene 5.2218177683
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.7017228818
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.8517053015 20135361 20464547 6695378 18816296 20064080 18569708 20869020 18520028
MESH:D008175 Lung Neoplasms Butylated Hydroxytoluene 2.8518597497 11246140 11696405 16337739 19925653 15390079 19359593
MESH:D008325 Mammary Neoplasms, Experimental Butylated Hydroxytoluene 7.061500032
MESH:D008325 Mammary Neoplasms, Experimental Progesterone 7.0611408345 17203775
MESH:D008881 Migraine Disorders Valproic Acid 3.3818765137 18803445
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.4016381670
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.318888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.3017596541
MESH:D009369 Neoplasms Benzo(a)pyrene 2.2811141357
MESH:D009436 Neural Tube Defects Valproic Acid 3.308888407 16359493
MESH:D009765 Obesity Dietary Fats 2.3418674790 17217161 18457598 21332399 20132043 11836018 16723640 19632207 20518802
MESH:D010051 Ovarian Neoplasms Progesterone 2.5917393432 16525653
MESH:D011014 Pneumonia Butylated Hydroxytoluene 5.5611893704
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.2320603192
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9317292933
MESH:D019310 Pseudolymphoma Valproic Acid 4.9811422049 12752131
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.4819155313
MESH:D012468 Salivary Gland Neoplasms Progesterone 2.9318045962
MESH:D012559 Schizophrenia Valproic Acid 2.0919110320 15737665
MESH:D012640 Seizures Valproic Acid 2.9114763951 16876388 15475178 11738929 1511512 17978042 11044598 3137016
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 6.0910029692 19755658
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 6.098532709
MESH:D013119 Spinal Cord Injuries Progesterone 4.6815862959 16503802
MESH:D016135 Spinal Dysraphism Valproic Acid 3.9919490988
MESH:D013226 Status Epilepticus Valproic Acid 4.9812833885
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D014178 Translocation, Genetic Valproic Acid 5.6817262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.923119515
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.2617053015
MESH:D014564 Urogenital Abnormalities Valproic Acid 5.008888407
MESH:D015430 Weight Gain Dietary Fats 3.9916723640
Pathway ID Pathway Name
KEGG:00250 Alanine, aspartate and glutamate metabolism
KEGG:00520 Amino sugar and nucleotide sugar metabolism
KEGG:01100 Metabolic pathways
REACT:17015 Metabolism of proteins
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB00130 - L-Glutamine Dietary supplement;Micronutrient;Non-Essential Amino Acids
No data
No data
No data

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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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