AutismKB 2.0

Annotation Detail for SPTBN2


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Basic Information Top
Gene Symbol:SPTBN2 ( GTRAP41,SCA5 )
Gene Full Name: spectrin, beta, non-erythrocytic 2
Band: 11q13.2
Quick LinksEntrez ID:6712; OMIM: 604985; Uniprot ID:SPTN2_HUMAN; ENSEMBL ID: ENSG00000173898; HGNC ID: 11276
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Desease IDDesease Name
Nervous system diseases
Neurodegenerative diseases
H00063Spinocerebellar ataxia
No data
No data
No data
Desease Name
Spinocerebellar ataxia-5
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of SPTBN2 mRNAaffects expression 16483693
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of SPTBN2 mRNAaffects binding|increases activity|increases expression 19710929
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 4.4418287403
MESH:D055371 Acute Lung Injury pirinixic acid 3.7218653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.3716434500
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.7019483382
MESH:D002779 Cholestasis pirinixic acid 3.1919176532
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.6118249437
MESH:D004487 Edema pirinixic acid 3.0212083418
MESH:D005234 Fatty Liver pirinixic acid 3.3120131406 19236843
MESH:D006333 Heart Failure pirinixic acid 2.8120558911
MESH:D006529 Hepatomegaly pirinixic acid 3.7619772884 16221962 18467677 19176532
MESH:D006943 Hyperglycemia pirinixic acid 3.6920558911
MESH:D007333 Insulin Resistance pirinixic acid 2.9316306350
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008113 Liver Neoplasms pirinixic acid 1.9520007298 15890375 16377806
MESH:D009135 Muscular Diseases pirinixic acid 4.2716239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.3019151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.3316411023
MESH:D009369 Neoplasms pirinixic acid 2.1417405874
MESH:D009765 Obesity pirinixic acid 1.9020558911
MESH:D015427 Reperfusion Injury pirinixic acid 2.5819058328
MESH:D020754 Spinocerebellar Ataxias marker/mechanism
Pathway ID Pathway Name
REACT:18266 Axon guidance
Pharmacogenomics Knowledge Base Top
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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