AutismKB 2.0

Annotation Detail for HBA2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:HBA2 ( - )
Gene Full Name: hemoglobin, alpha 2
Band: 16p13.3
Quick LinksEntrez ID:3040; OMIM: 141850; Uniprot ID:HBA_HUMAN; ENSEMBL ID: ENSG00000188536; HGNC ID: 4824
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Desease IDDesease Name
Circulatory system diseases
Hematologic diseases
H00228Thalassemia
No data
No data
No data
Desease Name
Thalassemia, alpha
Hypochromic microcytic anemia
Hemoglobin H disease
Heinz body anemia
Erythrocytosis
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016583 4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone [Benzo(a)pyrene co-treated with 4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone] results in increased expression of HBA2 mRNAaffects cotreatment|increases expression 20146248
D001564 Benzo(a)pyrene [Benzo(a)pyrene co-treated with 4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone] results in increased expression of HBA2 mRNAaffects cotreatment|increases expression 20146248
D004958 Estradiol [Progesterone co-treated with Estradiol] results in increased expression of HBA2 mRNAaffects cotreatment|increases expression 17404688
D008741 Methyl Methanesulfonate Methyl Methanesulfonate results in increased methylation of HBA2 proteinincreases methylation 15655799
D008770 Methylnitrosourea Methylnitrosourea results in increased carbamoylation of HBA2 proteinincreases carbamoylation 15655799
C076994 perfluorooctane sulfonic acid perfluorooctane sulfonic acid results in decreased expression of HBA2 mRNAdecreases expression 17560707
C023036 perfluorooctanoic acid perfluorooctanoic acid results in decreased expression of HBA2 mRNAdecreases expression 17560707
D011374 Progesterone [Progesterone co-treated with Estradiol] results in increased expression of HBA2 mRNAaffects cotreatment|increases expression 17404688
D011374 Progesterone Progesterone results in increased expression of HBA2 mRNAincreases expression 17404688
D012643 Selenium [Selenium co-treated with Vitamin E] results in decreased expression of HBA2 mRNAaffects cotreatment|decreases expression 19244175
D014810 Vitamin E [Selenium co-treated with Vitamin E] results in decreased expression of HBA2 mRNAaffects cotreatment|decreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 7.4120127859 20464547
MESH:D000230 Adenocarcinoma Estradiol 7.4111473722
MESH:D000230 Adenocarcinoma Methylnitrosourea 7.4115113128 15688392
MESH:D000236 Adenoma 4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone 7.3216176798
MESH:D000236 Adenoma Benzo(a)pyrene 7.326695378
MESH:D017085 alpha-Thalassemia marker/mechanism 15182556
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.2919183758
MESH:D017086 beta-Thalassemia marker/mechanism 17292142
MESH:D020201 Brain Hemorrhage, Traumatic Progesterone 5.6017868700
MESH:D001930 Brain Injuries Progesterone 4.4715380490 15845082 15665606
MESH:D001943 Breast Neoplasms 4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone 2.4120146248
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.4120146248 17474063
MESH:D001943 Breast Neoplasms Estradiol 2.4117289903 16675129 12948864 19861407 17261762 18497071 14630087 17018787
MESH:D001943 Breast Neoplasms Methylnitrosourea 2.4116253758 14633655 11306469
MESH:D001943 Breast Neoplasms Progesterone 2.4116175315 15562024 17614352
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.7016111702
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.1516050911
MESH:D006528 Carcinoma, Hepatocellular Estradiol 1.7716924424
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.0920419170
MESH:D002386 Cataract Methylnitrosourea 4.0812484553
MESH:D002471 Cell Transformation, Neoplastic Estradiol 7.4318566989
MESH:D002471 Cell Transformation, Neoplastic Methylnitrosourea 7.432727394 7505956
MESH:D054506 Chloracne marker/mechanism 17101203
MESH:D003092 Colitis Selenium 3.9917936198
MESH:D019465 Craniofacial Abnormalities Vitamin E 1.9219769572
MESH:D003928 Diabetic Nephropathies Estradiol 3.5619279558
MESH:D003929 Diabetic Neuropathies Progesterone 4.7117187935
MESH:D056486 Drug-Induced Liver Injury Selenium 2.2115131321
MESH:C538011 Eales disease Vitamin E 4.979068938
MESH:D004487 Edema perfluorooctanoic acid 3.7512083418 17259670
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Progesterone 3.9817692515
MESH:D016889 Endometrial Neoplasms Estradiol 3.0911473722 18566989 19148513
MESH:D004715 Endometriosis Progesterone 3.9316134523
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0416530937
MESH:D005354 Fibrosarcoma Methylnitrosourea 5.4711555667
MESH:D005909 Glioblastoma perfluorooctane sulfonic acid 4.3717162496
MESH:D005910 Glioma Methylnitrosourea 3.629825942
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.9620471113
MESH:D006330 Heart Defects, Congenital Vitamin E 6.9616080930
MESH:D006333 Heart Failure Selenium 3.1717162251
OMIM:140700 HEINZ BODY ANEMIAS marker/mechanism
MESH:D006529 Hepatomegaly perfluorooctanoic acid 4.313609246
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7516490937 16863852
MESH:D006558 Herpes Genitalis Estradiol 5.3015709030
MESH:D019584 Hot Flashes Estradiol 10.9517088409
MESH:D019584 Hot Flashes Vitamin E 10.9514716179
MESH:D006930 Hyperalgesia perfluorooctanoic acid 3.9912083418
MESH:D020244 Infarction, Middle Cerebral Artery Progesterone 4.6215869954
MESH:D007248 Infertility, Male Methylnitrosourea 3.907193160
MESH:D007249 Inflammation perfluorooctanoic acid 5.6912083418
MESH:D007249 Inflammation Progesterone 5.6915869954
MESH:D007251 Influenza, Human Selenium 11.8616624496
MESH:D007251 Influenza, Human Vitamin E 11.8616624496
MESH:D007333 Insulin Resistance Estradiol 3.0716627594 16393666
MESH:D007674 Kidney Diseases Estradiol 6.4115618244
MESH:D007674 Kidney Diseases Vitamin E 6.4112488133
MESH:D007676 Kidney Failure, Chronic Selenium 4.0616518626
MESH:D007680 Kidney Neoplasms Estradiol 3.1215610895
MESH:D007984 Leydig Cell Tumor perfluorooctanoic acid 5.478812269
MESH:D017880 Limb Deformities, Congenital Methylnitrosourea 4.3215526292
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 2.5414716833 14659978
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 2.5416169303
MESH:D008113 Liver Neoplasms 4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone 8.0115890375
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 8.0120195826 21137059
MESH:D008113 Liver Neoplasms perfluorooctanoic acid 8.0114757943 18709148
MESH:D038061 Lower Extremity Deformities, Congenital Methylnitrosourea 5.6816080182
MESH:D008171 Lung Diseases Vitamin E 3.2916863852
MESH:D008175 Lung Neoplasms 4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone 5.0916401635 14755239 12438228 19931552 15172992 15893417 16061637 18508827 18813816 17139156 9255578
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 5.0920464547 17053015 18816296 20869020 18569708 6695378 20064080 20135361 18520028
MESH:D008175 Lung Neoplasms Methylnitrosourea 5.0918062963
MESH:D008175 Lung Neoplasms Vitamin E 5.0911062179
MESH:D008223 Lymphoma Methylnitrosourea 4.1316257854 11418001
MESH:D016393 Lymphoma, B-Cell Methylnitrosourea 4.9514633661
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 15.2211408345 11807958 17203775 16891317
MESH:D008325 Mammary Neoplasms, Experimental Methylnitrosourea 15.2210838139 15313902 16944150 16051031 17131329 10767621 12931682 15113128 15688392 11807958 17020996 16619500 14633655 11751437 14999141 19196723 16827153
MESH:D008325 Mammary Neoplasms, Experimental Progesterone 15.2217203775 11408345
MESH:D008325 Mammary Neoplasms, Experimental Selenium 15.2215318939
MESH:D020149 Manganese Poisoning Estradiol 4.7519453300
MESH:D008654 Mesothelioma Selenium 2.8515107826
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.3216381670
MESH:D015428 Myocardial Reperfusion Injury Estradiol 3.4116810080
MESH:D009369 Neoplasms Benzo(a)pyrene 5.5811141357
MESH:D009369 Neoplasms Methylnitrosourea 5.5815533788
MESH:D009374 Neoplasms, Experimental Methylnitrosourea 4.6912696579
MESH:D009389 Neovascularization, Pathologic Estradiol 3.9717289903
MESH:D009421 Nervous System Malformations Estradiol 3.8516427766 11399458
MESH:D009442 Neurilemmoma Methylnitrosourea 5.7211555667
MESH:D052556 Niemann-Pick Disease, Type C perfluorooctanoic acid 5.179802331
MESH:D010051 Ovarian Neoplasms Estradiol 5.0319401270
MESH:D010051 Ovarian Neoplasms Progesterone 5.0317393432 16525653
MESH:D010190 Pancreatic Neoplasms 4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone 6.1312384795
MESH:D010190 Pancreatic Neoplasms Methylnitrosourea 6.1316965848
MESH:D010954 Plasmacytoma Selenium 5.1515087411
MESH:D011297 Prenatal Exposure Delayed Effects perfluorooctanoic acid 4.6317132714
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.0620887781
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.0817292933
MESH:D011471 Prostatic Neoplasms Estradiol 2.0816740699
MESH:D011471 Prostatic Neoplasms Methylnitrosourea 2.0815682402 12376480
MESH:D011471 Prostatic Neoplasms Vitamin E 2.0815084515
MESH:D012162 Retinal Degeneration Methylnitrosourea 4.5418155124 18172121
MESH:D012175 Retinoblastoma Methylnitrosourea 5.7211555667
MESH:D012468 Salivary Gland Neoplasms Progesterone 2.9118045962
MESH:D012871 Skin Diseases Vitamin E 2.4818709164
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.4419755658 10029692
MESH:D013119 Spinal Cord Injuries Progesterone 4.5216503802 15862959
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.712093021 20155912
MESH:D013274 Stomach Neoplasms Methylnitrosourea 2.7116257854 15930296 18593901
MESH:D020521 Stroke Vitamin E 3.6616517955
MESH:D013789 Thalassemia marker/mechanism
MESH:D013953 Thymus Neoplasms Methylnitrosourea 5.4711418001
MESH:D013964 Thyroid Neoplasms Methylnitrosourea 4.053078959 7505956
MESH:D013978 Tibial Fractures Estradiol 4.9519048282
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.2317053015
Pathway ID Pathway Name
KEGG:05143 African trypanosomiasis
KEGG:05144 Malaria
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA29199
  • No data
    Releated disease ID Related disease Name
    PA446431alpha-Thalassemia
    PA152209815HbH Disease
    No data
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00358 antagonist Mefloquine Antimalarials
    DB00893 activator Omni 2000tab Anti-anemic Agents;Iron Supplement
    DB02126 - 4-Carboxycinnamic Acid
    DB07427 - 2-[(2-methoxy-5-methylphenoxy)methyl]pyridine
    DB07428 - 4-[(5-methoxy-2-methylphenoxy)methyl]pyridine
    DB07645 - SEBACIC ACID
    DB08077 - 2-[4-({[(3,5-DICHLOROPHENYL)AMINO]CARBONYL}AMINO)PHENOXY]-2-METHYLPROPANOIC ACID
    DB08262 - 2,6-DICARBOXYNAPHTHALENE
    DB08380 - 2-[P-[2-P-CHLOROBENZAMIDO)ETHYL]PHENOXY]-2-METHYLPROPIONIC ACID
    DB08486 - 2-{4-[(3,5-DIMETHYLANILINO)-CARBONYL-METHYL]-PHENOXY}-2-METHYLPROPIONIC ACID
    DB08632 - 1,3,5-BENZENETRICARBOXYLIC ACID
    No data
    No data
    No data

    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