AutismKB 2.0

Annotation Detail for SPTA1


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Basic Information Top
Gene Symbol:SPTA1 ( EL2,HPP,HS3,SPH3,SPTA )
Gene Full Name: spectrin, alpha, erythrocytic 1 (elliptocytosis 2)
Band: 1q23.1
Quick LinksEntrez ID:6708; OMIM: 182860; Uniprot ID:SPTA1_HUMAN; ENSEMBL ID: ENSG00000163554; HGNC ID: 11272
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
Desease IDDesease Name
1999Thalassemia
2239Lymphoma
1882Malaria
Desease Name
HEMATOLOGICAL
other erythrocyte phenotypes
Desease Name
Other erythrocyte phenotypes
Glycated hemoglobin levels
Desease Name
Pyropoikilocytosis
Spherocytosis, type 3
Elliptocytosis-2
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
C029728 4-phenylenediamine 4-phenylenediamine results in increased expression of SPTA1 mRNAincreases expression 16314067
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in increased degradation of [SPTA1 protein binds to SPTB protein]affects binding|increases degradation 15040847
D004137 Dinitrochlorobenzene Dinitrochlorobenzene results in increased expression of SPTA1 mRNAincreases expression 16314067
C479799 (E)-4-((2-N-(4-methoxybenzenesulfonyl)amino)stilbazole)1-oxide (E)-4-((2-N-(4-methoxybenzenesulfonyl)amino)stilbazole)1-oxide results in decreased expression of SPTA1 mRNAdecreases expression 15528975
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
C029938 nickel sulfate nickel sulfate results in increased expression of SPTA1 mRNAincreases expression 16314067
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
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
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury nickel sulfate 4.5316100012 19131640 12718980 11954676
MESH:D001943 Breast Neoplasms (E)-4-((2-N-(4-methoxybenzenesulfonyl)amino)stilbazole)1-oxide 4.0215528975
MESH:D003093 Colitis, Ulcerative Dinitrochlorobenzene 3.9117373747 19159591
MESH:D017449 Dermatitis, Allergic Contact 4-phenylenediamine 13.6011298694 16533241 19470301 18759875 11906362 16823706
MESH:D017449 Dermatitis, Allergic Contact Dinitrochlorobenzene 13.6015491423
MESH:D017449 Dermatitis, Allergic Contact nickel sulfate 13.6016823706 16780908 11298694
MESH:D003877 Dermatitis, Contact 4-phenylenediamine 5.5611531941
MESH:D004612 Elliptocytosis, Hereditary marker/mechanism
MESH:D008175 Lung Neoplasms (E)-4-((2-N-(4-methoxybenzenesulfonyl)amino)stilbazole)1-oxide 3.5715528975
MESH:D008545 Melanoma Dinitrochlorobenzene 3.2212202904 17334785
MESH:D010051 Ovarian Neoplasms (E)-4-((2-N-(4-methoxybenzenesulfonyl)amino)stilbazole)1-oxide 4.1615528975
OMIM:266140 PYROPOIKILOCYTOSIS, HEREDITARY marker/mechanism
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 2.778532709
OMIM:270970 SPHEROCYTOSIS, TYPE 3 marker/mechanism
Pathway ID Pathway Name
REACT:18266 Axon guidance
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA36101
  • No data
    Releated disease ID Related disease Name
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    No data
    Drug Bank Top

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    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