AutismKB 2.0

Annotation Detail for NKX2-2


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Basic Information Top
Gene Symbol:NKX2-2 ( NKX2.2,NKX2B )
Gene Full Name: NK2 homeobox 2
Band: 20p11.22
Quick LinksEntrez ID:4821; OMIM: 604612; Uniprot ID:NKX22_HUMAN; ENSEMBL ID: ENSG00000125820; HGNC ID: 7835
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04950Maturity onset diabetes of the young
Pathway IDPathway Name
Regulation of beta-cell development
No data
No data
Pathway IDPathway Name
500522Regulation of gene expression in beta cells
500521Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells
500518Regulation of beta-cell development
500128Insulin Synthesis and Processing
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D002330 Carmustine Carmustine results in decreased expression of NKX2-2 mRNAdecreases expression 15980968
D008713 Methimazole Methimazole results in increased expression of NKX2-2 mRNAincreases expression 17399805
C494474 perchlorate perchlorate results in increased expression of NKX2-2 mRNAincreases expression 17399805
D011441 Propylthiouracil Propylthiouracil results in increased expression of NKX2-2 mRNAincreases expression 17399805
D014284 Triiodothyronine Triiodothyronine results in increased expression of NKX2-2 mRNAincreases expression 17403546
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of NKX2-2 mRNAdecreases expression 16922920
D014212 Tretinoin [Tretinoin co-treated with EGF protein] results in increased expression of NKX2-2 mRNAaffects cotreatment|increases expression 17196394
D014212 Tretinoin [Tretinoin co-treated with SHH protein] results in increased expression of NKX2-2 proteinaffects cotreatment|increases expression 15996115
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.2414514962 15322242 11752688
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.7716835633
MESH:D000505 Alopecia Tretinoin 3.8415955085
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2111748828
MESH:D001169 Arthritis, Experimental Tretinoin 3.2316412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.3116292516
MESH:D001249 Asthma Tretinoin 2.4116456186
MESH:D001471 Barrett Esophagus Tretinoin 4.7316935849
MESH:D001778 Blood Coagulation Disorders Propylthiouracil 17.1319483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 17.1312125929
MESH:D001778 Blood Coagulation Disorders Tretinoin 17.1316206674 16197459
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.2315340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9315746008
MESH:D001932 Brain Neoplasms Carmustine 4.6516187019
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9620435547
MESH:D001943 Breast Neoplasms Tretinoin 1.9616873071 16443354 16166294
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 4.9916813970
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0216835633
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.6016168501
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 1.911917145
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 2.3516096774 16051514
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5016120746 18850075 18670907
MESH:D002386 Cataract Tretinoin 3.2417460283
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 4.9916129372
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4116835633
MESH:D002822 Choriocarcinoma Tretinoin 5.6016461808
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 6.0915668235 12621046 16354765 8697196 15340226
MESH:D002972 Cleft Palate Tretinoin 6.099407595
MESH:D003092 Colitis Tretinoin 4.0617035595
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3117141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5115322242 10048152 20055451
MESH:D019465 Craniofacial Abnormalities Tretinoin 2.518800419 17551590 9142499 10589399 9211117 16925845 9224671 9125849 14991402 9664655
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.5920420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9611462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.6511000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 13.4716714409 18230668 15322242
MESH:D004489 Edema, Cardiac Tretinoin 13.4718230668
MESH:D016889 Endometrial Neoplasms Tretinoin 3.2816569247
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.2910568697 9294722
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 9.5211564622
MESH:D005124 Eye Abnormalities Tretinoin 9.529664655 16938888
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8111858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.8420067830
MESH:D005355 Fibrosis Tretinoin 9.8417994277
MESH:D005909 Glioblastoma Carmustine 8.0216187019
MESH:D005909 Glioblastoma Tretinoin 8.0217312396
MESH:D006042 Goiter perchlorate 5.6118801409
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.0410696789
MESH:D006258 Head and Neck Neoplasms Tretinoin 3.3616096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.6016084493
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.9710048152 11294989
MESH:D006330 Heart Defects, Congenital Tretinoin 6.979664655 14991402
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6211000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.2515340226 12621046 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.498697196 16959395 15340226 18606429 16354765
MESH:D006930 Hyperalgesia Tretinoin 3.4316870215
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 4.9316778211
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9918850075 18670907
MESH:D006980 Hyperthyroidism Methimazole 5.9514678291
MESH:D007037 Hypothyroidism Methimazole 13.1818031379
MESH:D007037 Hypothyroidism Propylthiouracil 13.188137927 18031379
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9812878042 12200463
MESH:D007410 Intestinal Diseases Tretinoin 4.1217994277
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 10.8916580747
MESH:D007569 Jaw Abnormalities Tretinoin 10.8917551590 15992940
MESH:D007938 Leukemia Tretinoin 2.8917143497
MESH:D007951 Leukemia, Myeloid Tretinoin 3.9819285840 16932348 16482212
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 2.1116294345 17596541 19850784
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 3.3216935935 17339181 12679006 9834237 19225113 16140955 19029980 16891316 17301526 16823087 16766008 19075265 15748426 17712046 16331271 19035177 17506722 16788101 17368321 17361223 17217047 19642359 17107899 17294898 17649720
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.509224671
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.3712878042
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 2.3716248980 18397230
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8016984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2612151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2411884234 19555203
MESH:D008527 Medulloblastoma Tretinoin 2.8717453147
MESH:D008545 Melanoma Carmustine 3.7712393984
MESH:D008545 Melanoma Tretinoin 3.7716752155
MESH:D008591 Meningomyelocele Tretinoin 4.7816940565
MESH:D009190 Myelodysplastic Syndromes Tretinoin 3.2217596541
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2412213967
MESH:D009369 Neoplasms Tretinoin 2.5216946489 16594593
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 10.6314600291
MESH:D009421 Nervous System Malformations Tretinoin 10.639125849
MESH:D009436 Neural Tube Defects Tretinoin 3.229142499
MESH:D010051 Ovarian Neoplasms Tretinoin 2.4116936753
MESH:D010146 Pain Tretinoin 3.1316870215
MESH:D010190 Pancreatic Neoplasms Tretinoin 2.5415976015
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6912520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8918163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.5911896295 11399792 11118676 11222880
MESH:D011507 Proteinuria Tretinoin 3.9116636307
MESH:D011625 Pterygium Tretinoin 5.1916723453
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1718990726
MESH:D012208 Rhabdomyosarcoma Tretinoin 4.4016116481 16283617
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.9416192470
MESH:D012878 Skin Neoplasms Tretinoin 5.9416467112
MESH:D013274 Stomach Neoplasms Tretinoin 1.8017261132
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.3512697716
MESH:D013964 Thyroid Neoplasms Propylthiouracil 8.1315710170
MESH:D013964 Thyroid Neoplasms Tretinoin 8.1316026305 17045167
MESH:D014062 Tongue Neoplasms Tretinoin 4.0516051514
MESH:D014376 Tuberculosis Tretinoin 3.3816040207
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 3.9416129372
MESH:D014604 Uveal Neoplasms Tretinoin 5.0516752155
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.0412125929
MESH:D014820 Vitiligo Tretinoin 4.3916761959
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6915886252
MESH:D009396 Wilms Tumor Tretinoin 4.2216287080
Pathway ID Pathway Name
KEGG:04950 Maturity onset diabetes of the young
REACT:13641 Regulation of Beta-Cell Development
REACT:13698 Regulation of beta-cell development
Pharmacogenomics Knowledge Base Top
Drug Bank Top

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  (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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