AutismKB 2.0

Annotation Detail for SPTB


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Basic Information Top
Gene Symbol:SPTB ( EL3,HS2,HSPTB1,SPH2 )
Gene Full Name: spectrin, beta, erythrocytic
Band: 14q23.3
Quick LinksEntrez ID:6710; OMIM: 182870; Uniprot ID:SPTB1_HUMAN; ENSEMBL ID: ENSG00000070182; HGNC ID: 11274
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Desease IDDesease Name
Circulatory system diseases
Hematologic diseases
H00230Hereditary spherocytosis
H00231Hereditary elliptocytosis
No data
No data
No data
Desease Name
Anemia, neonatal hemolytic, fatal and near-fatal
Spherocytosis, type 2
Elliptocytosis-3
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C027132 1-anilino-8-naphthalenesulfonate 1-anilino-8-naphthalenesulfonate binds to [SPTA1 protein binds to SPTB protein]affects binding 15492010
C006632 arsenic trioxide arsenic trioxide results in increased expression of SPTB mRNAincreases expression 20458559
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in increased degradation of [SPTA1 protein binds to SPTB protein]affects binding|increases degradation 15040847
D019791 Guanidine Guanidine affects the folding of [SPTA1 protein binds to SPTB protein]affects binding|affects folding 15711878
D019791 Guanidine Guanidine inhibits the reaction [prodan binds to [SPTA1 protein binds to SPTB protein]]affects binding|decreases reaction 15711878
C038517 prodan Guanidine inhibits the reaction [prodan binds to [SPTA1 protein binds to SPTB protein]]affects binding|decreases reaction 15711878
C038517 prodan prodan binds to [SPTA1 protein binds to SPTB protein]affects binding 15492010
C038517 prodan Urea inhibits the reaction [prodan binds to [SPTA1 protein binds to SPTB protein]]affects binding|decreases reaction 15711878
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of SPTB mRNAincreases expression 15716485
D014508 Urea Urea affects the folding of [SPTA1 protein binds to SPTB protein]affects binding|affects folding 15711878
D014508 Urea Urea inhibits the reaction [prodan binds to [SPTA1 protein binds to SPTB protein]]affects binding|decreases reaction 15711878
D014810 Vitamin E Vitamin E results in decreased expression of SPTB mRNAdecreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1814514962 11752688 15322242
MESH:D000230 Adenocarcinoma arsenic trioxide 2.3311798837 19825857
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.7116835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1711748828
MESH:D000743 Anemia, Hemolytic marker/mechanism
MESH:D000751 Anemia, Neonatal marker/mechanism
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 9.7816206674
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.7812125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1715340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9115746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6820435547
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.5911589617
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.2416050911
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9916835633
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 1.9716217749 14691202 15553829 11135700 15073043
MESH:D002291 Carcinoma, Papillary arsenic trioxide 5.2519014326
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.3512490120
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4916120746 18670907 18850075
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3816835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.198697196 12621046 16354765 15340226 15668235
MESH:D015179 Colorectal Neoplasms arsenic trioxide 1.8620501625
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2714669216 17141729
MESH:D023903 Coronary Restenosis arsenic trioxide 4.4712609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 3.8910525206
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 3.8910048152 15322242 20055451
MESH:D019465 Craniofacial Abnormalities Vitamin E 3.8919769572
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.3615213294
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.5920420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9311462148
MESH:C538011 Eales disease Vitamin E 5.089068938
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.6112711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2818230668 16714409 15322242
MESH:D004612 Elliptocytosis, Hereditary marker/mechanism
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.259294722 10568697
MESH:D004938 Esophageal Neoplasms arsenic trioxide 2.3612903497
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1911564622
MESH:D005234 Fatty Liver arsenic trioxide 3.5315073043
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7611858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.2520067830
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.5416904648
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9710696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.9511294989 10048152
MESH:D006330 Heart Defects, Congenital Vitamin E 6.9516080930
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5811000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.2015340226 16120746 12621046
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7716863852 16490937
MESH:D019584 Hot Flashes Vitamin E 4.3514716179
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.4216959395 18606429 8697196 15340226 16354765
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9818850075 18670907
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9612200463 12878042
MESH:D007251 Influenza, Human Vitamin E 4.5916624496
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5816580747
MESH:D007674 Kidney Diseases Vitamin E 2.9312488133
MESH:D007938 Leukemia arsenic trioxide 2.9315070760
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 4.0417077332 12560223
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 4.6416972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.6014633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 4.0019077051
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 2.1719850784 16968895 17050201 16467208 20471514
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 3.3616331271 12018890 16112521 15622746 19642359 16891316 12712474 15213294 19035177 16966277 16823087 11161223 17649720 12679006 16330433 17869043 17712046 19225113 17217047 19075265 15748426 17107899 9834237 11468182 15336539
MESH:D015458 Leukemia, T-Cell arsenic trioxide 4.6316882451
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.4012878042
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 2.4016169303
MESH:D008113 Liver Neoplasms arsenic trioxide 4.7014682389
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.7016984957
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 6.2720377131
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.2712151625
MESH:D008133 Long QT Syndrome arsenic trioxide 3.5315213294
MESH:D008171 Lung Diseases Vitamin E 3.3316863852
MESH:D008175 Lung Neoplasms arsenic trioxide 3.5311798837 19825857
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.5319555203 11884234
MESH:D008175 Lung Neoplasms Vitamin E 3.5311062179
MESH:D009101 Multiple Myeloma arsenic trioxide 3.2711468182 15949261 19549372 14977855 19417148
MESH:D009182 Mycosis Fungoides arsenic trioxide 5.0518349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 3.2616105982 16882451
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2112213967
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 4.2416624393
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4914600291
MESH:D009436 Neural Tube Defects arsenic trioxide 3.2610525206
MESH:D010051 Ovarian Neoplasms arsenic trioxide 2.4716624393 19769630 12452020
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 2.5915580305
MESH:D010235 Paraganglioma arsenic trioxide 4.4219927285
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.5311896295 11118676 11399792 11222880
MESH:D011471 Prostatic Neoplasms arsenic trioxide 3.2519131511
MESH:D011471 Prostatic Neoplasms Vitamin E 3.2515084515
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1218990726
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 4.2416646077
MESH:D012871 Skin Diseases Vitamin E 2.4918709164
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 5.928532709
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.9216192470
MESH:D013103 Spherocytosis, Hereditary marker/mechanism
MESH:D013274 Stomach Neoplasms arsenic trioxide 1.8617007042
MESH:D020521 Stroke Vitamin E 3.7116517955
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2812697716
MESH:D013964 Thyroid Neoplasms arsenic trioxide 3.2719014326
MESH:D016171 Torsades de Pointes arsenic trioxide 4.3015213294
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 2.5611780464 20435036 12973940 12845720
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9712125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6215886252
Pathway ID Pathway Name
REACT:18266 Axon guidance
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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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