AutismKB 2.0

Annotation Details 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
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005856TAS-cytoskeleton1350227
GO:0005886IEA-plasma membrane-
GO:0030863IEA-cortical cytoskeleton-
GO ID Evidence Qualifier GO_term References
GO:0003810IEA-protein-glutamine gamma-glutamyltransferase activity-
GO:0005200TAS-structural constituent of cytoskeleton1350227
GO:0005515IPI-protein binding12646258
GO:0005524TAS-ATP binding8608138
GO ID Evidence Qualifier GO_term References
GO:0000902IEA-cell morphogenesis-
GO:0007010IEA-cytoskeleton organization-
GO:0008360IEA-regulation of cell shape-
GO:0018149IEA-peptide cross-linking-
GO:0020027IEA-hemoglobin metabolic process-
GO:0043249IEA-erythrocyte maturation-
GO:0048536IEA-spleen development-
GO:0055072IEA-iron ion homeostasis-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
EPB42ANK21083522968981 Reconstituted Complex
EPB42ANK21067842968981 Reconstituted Complex
KRASEPB421083523276554 Reconstituted Complex
KRASEPB421100433276554 Reconstituted Complex
SLC4A1EPB421083527626035 Protein-peptide
SLC4A1EPB421124127626035 Protein-peptide
SPTAN1EPB4210835212049649 Reconstituted Complex
SPTAN1EPB4211258712049649 Reconstituted Complex
SPINK7EPB4210835212646258 12970870 Two-hybrid
SPINK7EPB4212417412646258 12970870 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:95402
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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  (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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