AutismKB 2.0

Annotation Detail for EPB42


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Basic Information Top
Gene Symbol:EPB42 ( MGC116735,MGC116737,PA,SPH5 )
Gene Full Name: erythrocyte membrane protein band 4.2
Band: 15q15.2
Quick LinksEntrez ID:2038; OMIM: 177070; Uniprot ID:EPB42_HUMAN; ENSEMBL ID: ENSG00000166947; HGNC ID: 3381
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
Desease IDDesease Name
2141Protein deficiency
2204Hemolytic anemia
Desease Name
hereditary hemolytic anemia.
hereditary spherocytosis (protein 4.2Notame).
hereditary hemolytic anemia
ovalostomatocytosis
hereditary haemolytic anaemia.
erythrocyte band 4.2 deficiency.
No data
Desease Name
Spherocytosis, hereditary, type 5
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in increased degradation of EPB42 proteinincreases degradation 15040847
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 2.898532709
OMIM:612690 SPHEROCYTOSIS, TYPE 5 marker/mechanism
No data
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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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