AutismKB 2.0

Annotation Detail for PHKA2


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Basic Information Top
Gene Symbol:PHKA2 ( GSD9A,MGC133071,PHK,PYK,PYKL,XLG,XLG2 )
Gene Full Name: phosphorylase kinase, alpha 2 (liver)
Band: Xp22.13
Quick LinksEntrez ID:5256; OMIM: 300798; Uniprot ID:KPB2_HUMAN; ENSEMBL ID: ENSG00000044446; HGNC ID: 8926
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04910Insulin signaling pathway
hsa04020Calcium signaling pathway
Pathway IDPathway Name
Metabolism of carbohydrates
No data
Pathway IDPathway Name
P00026Heterotrimeric G-protein signaling pathway-Gi alpha and Gs alpha mediated pathway
Pathway IDPathway Name
500680Glycogen breakdown (glycogenolysis)
Related Diseases/Disorders Top
Desease IDDesease Name
Inherited disorders of carbohydrate metabolism
H00069Glycogen storage disease (GSD)
Genetic disorders
No data
No data
No data
Desease Name
Glycogen storage disease, type IXa2
Glycogen storage disease, type IXa1
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in increased expression of PHKA2 mRNAincreases expression 15003993
D016572 Cyclosporine Cyclosporine results in decreased expression of PHKA2 mRNAdecreases expression 20106945
C044361 M-VAC protocol PHKA2 protein results in decreased susceptibility to M-VAC protocoldecreases response to substance 15814643
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of PHKA2 mRNAaffects binding|increases activity|increases expression 19710929
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of PHKA2 mRNAincreases expression 19465110
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3814514962 11752688 15322242
MESH:D055371 Acute Lung Injury pirinixic acid 3.5218653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 11.7716434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 11.7716835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2911748828
MESH:D001778 Blood Coagulation Disorders pirinixic acid 10.0419483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 10.0412125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.4015340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9715746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6720435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0916835633
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5418670907 18850075 16120746
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.7612371664
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4916835633
MESH:D002779 Cholestasis Cyclosporine 8.6319486331
MESH:D002779 Cholestasis pirinixic acid 8.6319176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2216354765 8697196 12621046 15340226 15668235
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3814669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2710048152 15322242 20055451
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5618249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7317107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6120420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0211462148
MESH:D004487 Edema pirinixic acid 7.7912083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.7911000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.5116714409 15322242 18230668
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.3710568697 9294722
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2711564622
MESH:D005234 Fatty Liver Cyclosporine 8.8219224547
MESH:D005234 Fatty Liver pirinixic acid 8.8219236843 20131406
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.9411858732
MESH:D005355 Fibrosis Cyclosporine 10.1412168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 10.1420067830
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.768708960
MESH:D006015 Glycogen Storage Disease Type VIII marker/mechanism
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.2110696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4910048152 11294989
MESH:D006333 Heart Failure pirinixic acid 2.7320558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.9615720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7111000095
MESH:D006529 Hepatomegaly pirinixic acid 9.9216221962 19772884 19176532 18467677
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.9215340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.668697196 16959395 15340226 18606429 16354765
MESH:D006943 Hyperglycemia pirinixic acid 3.5320558911
MESH:D006973 Hypertension Cyclosporine 5.3110903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.3118670907 18850075
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0112200463 12878042
MESH:D007333 Insulin Resistance pirinixic acid 2.8516306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7116580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.0515604871
MESH:D007674 Kidney Diseases Cyclosporine 2.528314463 10903974 18776723
MESH:D007680 Kidney Neoplasms Cyclosporine 3.0412371664
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.2215474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.2212878042
MESH:D008113 Liver Neoplasms pirinixic acid 4.6120007298 16377806 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.6116984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3112151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.4016801185
MESH:D009135 Muscular Diseases pirinixic acid 3.9916239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2619151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3112213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2216411023
MESH:D009369 Neoplasms pirinixic acid 2.0917405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.0517954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.6119348381 18481113
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.6514600291
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.8612520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0018163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.5512371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.7311118676 11399792 11222880 11896295
MESH:D011565 Psoriasis Cyclosporine 2.3216882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.5319058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2818990726
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 6.078532709
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 6.0716192470
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.5112697716
MESH:D014571 Urologic Neoplasms M-VAC protocol 6.6217933135
MESH:D014605 Uveitis Cyclosporine 4.591336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.2112125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.8615886252
MESH:D014985 Xerophthalmia Cyclosporine 5.0517120751
Pathway ID Pathway Name
KEGG:04020 Calcium signaling pathway
KEGG:04910 Insulin signaling pathway
REACT:474 Metabolism of carbohydrates
Pharmacogenomics Knowledge Base Top
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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