AutismKB 2.0

Annotation Detail for PANK2


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Basic Information Top
Gene Symbol:PANK2 ( C20orf48,FLJ17232,HARP,HSS,MGC15053,NBIA1,PKAN )
Gene Full Name: pantothenate kinase 2
Band: 20p13
Quick LinksEntrez ID:80025; OMIM: 606157; Uniprot ID:PANK2_HUMAN; ENSEMBL ID: ENSG00000125779; HGNC ID: 15894
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
COA-PWYcoenzyme A biosynthesis
Pathway IDPathway Name
hsa00770Pantothenate and CoA biosynthesis
hsa01100Metabolic pathways
Pathway IDPathway Name
Metabolism of vitamins and cofactors
No data
Pathway IDPathway Name
P02736Coenzyme A biosynthesis
Pathway IDPathway Name
500598Coenzyme A biosynthesis
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1789Movement disorder
1982Myopathy
No data
No data
Desease Name
HARP syndrome
Neurodegeneration with brain iron accumulation 1
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in decreased expression of PANK2 mRNAdecreases expression 18648102
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of PANK2 mRNAdecreases expression 19150397
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PANK2 mRNAaffects cotreatment|increases expression 17942748
C006253 pirinixic acid pirinixic acid results in increased expression of PANK2 mRNAincreases expression 18301758
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PANK2 mRNAaffects cotreatment|increases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3814514962 15322242 11752688
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.5517505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.5218653653
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8814692618
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.933712494
MESH:D018248 Adenoma, Liver Cell pirinixic acid 11.7716434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 11.7716835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2911748828
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.9511256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8615885639
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.631440618 11289319
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:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 1.773581430 7296757
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.817296757
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5418850075 18670907 16120746
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 7.437505956
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.4320889678
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4916835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 14.9219486331 9022650
MESH:D002779 Cholestasis Ethinyl Estradiol 14.9215861022 16105132 17110522 11677210 17333356 17681005 16919318
MESH:D002779 Cholestasis pirinixic acid 14.9219176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.228697196 15668235 12621046 16354765 15340226
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3814669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2710048152 20055451 15322242
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.2812868966 8970840 18759878 2524372 11298694 8156756 14531868 11906362
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5618249437
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.893621924 2952479
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7317107852
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 3.9718289764 11289319 18692083 7440962 8291058 9328219 9653073 6482804 18648102 16192314 1440618 9022650 6679447
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.9720420201
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 4.5118230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.6312538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.3710568697 9294722
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 4.633581430
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.6320426865
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2711564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.8115345470
MESH:D005234 Fatty Liver pirinixic acid 8.8120131406 19236843
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.9411858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.636705139
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.4320067830
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.447505956
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:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7111000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.956705139
MESH:D006529 Hepatomegaly pirinixic acid 9.9216221962 18467677 19772884 19176532
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.9215340226 12621046 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.6615340226 16354765 18606429 16959395 8697196
MESH:D006943 Hyperglycemia pirinixic acid 3.5320558911
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.4215034207
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0118850075 18670907
OMIM:607236 HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENERATION marker/mechanism
MESH:D007021 Hypospadias Ethinyl Estradiol 4.2916945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.8712013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.7117937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0112878042 12200463
MESH:D007333 Insulin Resistance pirinixic acid 2.8516306350
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.638074119 9022650
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7116580747
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 3.276582329
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.4015034207 9327722
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.2215474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.2212878042
MESH:D008113 Liver Neoplasms pirinixic acid 4.6116377806 20007298 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.6116984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 6.42598648 6587162 1399818 3712494
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.4212151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2411884234 19555203
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:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.583581430
MESH:D009369 Neoplasms pirinixic acid 2.0917405874
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.6514600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.136679447
MESH:D019636 Neurodegenerative Diseases marker/mechanism 16450344 17296847
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.774026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.633988306
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.0911578682
MESH:D006211 Pantothenate Kinase-Associated Neurodegeneration marker/mechanism
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.977296757
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.8612520081
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 5.086228378
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0018163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.7311118676 11896295 11222880 11399792
MESH:D011537 Pruritus Ethinyl Estradiol 3.8516919318 15861022
MESH:D015427 Reperfusion Injury pirinixic acid 2.5319058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2818990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.643692021
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1816192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.5516709447
MESH:D019851 Thrombophilia Ethinyl Estradiol 4.0211994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4815669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.5112697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.156587162 6582329 7505956 1399818 3712494
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.398074119
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.7414692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.2112125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.9115869587 14671159
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.8615886252
Pathway ID Pathway Name
KEGG:01100 Metabolic pathways
REACT:11193 Metabolism of vitamins and cofactors
KEGG:00770 Pantothenate and CoA biosynthesis
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA38048
    • No data
    Releated disease ID Related disease Name
    PA152238066Mental Retardation, X-Linked
    Releated drug ID Related drug Name
    PA449173l-cysteine
    Drug Bank Top

    Simple Query:


      (e.g. CHD8)

    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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