AutismKB 2.0

Annotation Detail for SPTBN1


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Basic Information Top
Gene Symbol:SPTBN1 ( ELF,SPTB2,betaSpII )
Gene Full Name: spectrin, beta, non-erythrocytic 1
Band: 2p16.2
Quick LinksEntrez ID:6711; OMIM: 182790; Uniprot ID:SPTB2_HUMAN; ENSEMBL ID: ENSG00000115306; HGNC ID: 11275
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Axon guidance
Interactions of the immunoglobulin superfamily (IgSF) member proteins
Pathway IDPathway Name
200195TGF-beta receptor signaling
No data
No data
Related Diseases/Disorders Top
No data
No data
Desease Name
Bone mineral density (spine)
METABOLIC
Desease Name
Bone mineral density (spine)
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016601 4-hydroxytamoxifen 4-hydroxytamoxifen results in decreased expression of SPTBN1 mRNAdecreases expression 19901195
C103505 AM 251 AM 251 results in decreased expression of SPTBN1 mRNAdecreases expression 16500647
D006710 Homocysteine Homocysteine results in decreased expression of SPTBN1 mRNAdecreases expression 17326132
D000638 Amiodarone Amiodarone results in increased expression of SPTBN1 mRNAincreases expression 19774075
D000643 Ammonium Chloride Ammonium Chloride affects the expression of SPTBN1 mRNAaffects expression 16483693
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 SPTBN1 mRNAdecreases expression 20018196
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in decreased expression of SPTBN1 mRNAdecreases expression 15336504
D005419 Flavonoids Flavonoids results in increased expression of SPTBN1 mRNAincreases expression 18035473
D008628 Mercury Mercury results in increased expression of SPTBN1 mRNAincreases expression 16823088
C030110 oxaliplatin oxaliplatin results in increased expression of SPTBN1 mRNAincreases expression 17762391
C025299 polyphenols polyphenols results in increased expression of SPTBN1 mRNAincreases expression 16293270
C025462 sulindac sulfide sulindac sulfide results in decreased expression of SPTBN1 mRNAdecreases expression 12734198
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of SPTBN1 mRNAincreases expression 19901195
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 2.9614514962 11752688 15322242
MESH:D000138 Acidosis Ammonium Chloride 3.6818287403
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.4916835633
MESH:D000544 Alzheimer Disease sulindac sulfide 3.1018759972
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0211748828
MESH:D001145 Arrhythmias, Cardiac Amiodarone 3.8818218290 18057881 20041841
MESH:D001281 Atrial Fibrillation Amiodarone 3.9619698954 18651412
MESH:D001321 Autistic Disorder Homocysteine 2.7420468076 16297937
MESH:D001321 Autistic Disorder Mercury 2.7417497416
MESH:D001327 Autoimmune Diseases Mercury 4.9816634805
MESH:D001778 Blood Coagulation Disorders Amiodarone 9.3219483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.3212125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.9215340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8115746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.7020435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.8616835633
MESH:D002289 Carcinoma, Non-Small-Cell Lung sulindac sulfide 3.4712391285
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4118670907 18850075 16120746
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 6.2519225199 15710769
MESH:D002311 Cardiomyopathy, Dilated Mercury 6.2510334427
MESH:D002341 Carotid Artery Thrombosis Amiodarone 5.2018974383
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.7820889678
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2316835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1316354765 15340226 15668235 12621046 8697196
MESH:D003110 Colonic Neoplasms oxaliplatin 4.3816024531 16004971 16510598
MESH:D003110 Colonic Neoplasms polyphenols 4.3816293270
MESH:D015179 Colorectal Neoplasms oxaliplatin 2.9417594712 17695437 17255274 17401013 18448328 18509181
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1314669216 17141729
MESH:D003324 Coronary Artery Disease Homocysteine 3.7816379339
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 15322242 20055451
MESH:D017449 Dermatitis, Allergic Contact Mercury 3.9016823706
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6817107852
MESH:D056486 Drug-Induced Liver Injury Amiodarone 6.4615265979 18218290
MESH:D056486 Drug-Induced Liver Injury polyphenols 6.4619370779
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.4620420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8211462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.4611000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.0416714409 18230668 15322242
MESH:D016889 Endometrial Neoplasms 4-hydroxytamoxifen 4.1719148513
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.1010568697 9294722
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.0920426865
MESH:D017889 Exfoliation Syndrome Homocysteine 5.8216504073
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0711564622
MESH:D005234 Fatty Liver Amiodarone 3.6014986274
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.5611858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.0520067830
MESH:D005901 Glaucoma Homocysteine 5.3716504073
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.7310696789
MESH:D006330 Heart Defects, Congenital Homocysteine 7.0819638421
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 7.0810048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4211000095
MESH:D006529 Hepatomegaly Amiodarone 8.8915265979
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 8.8915340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.1816959395 16354765 8697196 18606429 15340226
MESH:D006930 Hyperalgesia oxaliplatin 4.4217418472
MESH:D006937 Hypercholesterolemia Amiodarone 3.958137927 9751232
MESH:D020138 Hyperhomocysteinemia Homocysteine 4.7817292331 18234410 17369066
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9318850075 18670907
MESH:D007037 Hypothyroidism Amiodarone 4.6217991464 18020914
MESH:D007249 Inflammation Flavonoids 8.6417296493
MESH:D007249 Inflammation polyphenols 8.6416366677
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 8.6412878042 12200463
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4216580747
MESH:D007674 Kidney Diseases Mercury 3.6017934191
MESH:D008064 Lipidoses Amiodarone 3.5715342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2412878042
MESH:D008107 Liver Diseases polyphenols 2.8016698588
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.7416984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.1512151625
MESH:D008133 Long QT Syndrome Amiodarone 3.6417391786 15350150 11989578
MESH:D008171 Lung Diseases Amiodarone 3.4312587719
MESH:D017563 Lung Diseases, Interstitial Amiodarone 4.6118516814
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D008591 Meningomyelocele Homocysteine 5.6416602021
MESH:D009181 Mycoses Amiodarone 5.0417974566 12754197
MESH:D009203 Myocardial Infarction Homocysteine 3.7417412321
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.0812213967
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.3114600291
MESH:D010146 Pain AM 251 4.3518987195
MESH:D010190 Pancreatic Neoplasms AM 251 3.8716500647
MESH:D010300 Parkinson Disease Homocysteine 3.6016275827
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.3812520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.6518163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.3111118676 11399792 11222880 11896295
MESH:D011658 Pulmonary Fibrosis Amiodarone 2.8812832656 12490602 11597910
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.9318990726
MESH:D012559 Schizophrenia Homocysteine 3.1116641680
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 5.2018724381
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 5.718532709
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.7116192470
MESH:D013276 Stomach Ulcer Amiodarone 3.4018087811
MESH:D013610 Tachycardia Amiodarone 4.3811238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 4.2819225199
MESH:D013705 Temporomandibular Joint Disorders polyphenols 5.3917997062
MESH:D013959 Thyroid Diseases Amiodarone 12.5119731979
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 12.5112697716
MESH:D013971 Thyrotoxicosis Amiodarone 4.9618020914 19584973
MESH:D016171 Torsades de Pointes Amiodarone 4.3111989578 17467628
MESH:D014594 Uterine Neoplasms sulindac sulfide 4.7518645019
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.7312125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.3815886252
Pathway ID Pathway Name
REACT:18266 Axon guidance
REACT:23853 Interactions of the immunoglobulin superfamily (IgSF) member proteins
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA36104
    • No data
    Releated disease ID Related disease Name
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    No data
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB01373 agonist Calcium
    DB03401 - D-Myo-Inositol-1,4,5-Triphosphate
    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


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