EPB42

Erythrocyte membrane protein band 4.2 is an ATP-binding protein which may regulate the association of protein 3 with ankyrin. It probably has a role in erythrocyte shape and mechanical property regulation. Mutations in the EPB42 gene are associated with recessive spherocytic elliptocytosis and recessively transmitted hereditary hemolytic anemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Description

Erythrocyte membrane protein band 4.2

Tissue specificity

Tissue enriched (bone marrow)

Subcell location

Nucleoplasm, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

15 (43197227 - 43221018)

Ensembl ID

ENSG00000166947  (ver. 103.38)

Orthologs

Mouse Epb42: ENSMUSG00000023216

UniProt

P16452

neXtProt

NX_P16452

Human splice variants
Mouse splice variants

Protein structure