Entity Details

Primary name EPB42
Entity type gene
Source Source Link

Details

PrimaryID2038
RefseqGeneNG_011505
SymbolEPB42
Nameerythrocyte membrane protein band 4.2
Chromosome15
Location15q15.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-10
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsEPB42_HUMAN

GO terms

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GOName
GO:0000902 cell morphogenesis
GO:0003810 protein-glutamine gamma-glutamyltransferase activity
GO:0005200 structural constituent of cytoskeleton
GO:0005524 ATP binding
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0008360 regulation of cell shape
GO:0018149 peptide cross-linking
GO:0020027 hemoglobin metabolic process
GO:0030863 cortical cytoskeleton
GO:0043249 erythrocyte maturation
GO:0048536 spleen development
GO:0055072 iron ion homeostasis

Diseases

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Disease IDSourceNameDescription
612690 OMIMSpherocytosis 5 (SPH5)Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. Absence of band 4.2 associated with spur or target erythrocytes has also been reported. The disease is caused by variants affecting the gene represented in this entry.