Protein 4.2

EPB42
Identifiers
Aliases	EPB42, PA, SPH5, erythrocyte membrane protein band 4.2
External IDs	OMIM: 177070 MGI: 95402 HomoloGene: 93 GeneCards: EPB42
Gene location (Human) Chr. Chromosome 15 (human) Band 15q15.2 Start 43,106,225 bp End 43,221,283 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2 E5|2 60.37 cM Start 121,017,891 bp End 121,037,072 bp
RNA expression pattern More reference expression data
Gene ontology Molecular function • structural constituent of cytoskeleton • protein-glutamine gamma-glutamyltransferase activity • protein binding • ATP binding Cellular component • cytoplasm • cortical cytoskeleton • plasma membrane • cytoskeleton • membrane Biological process • iron ion homeostasis • peptide cross-linking • spleen development • cell morphogenesis • hemoglobin metabolic process • ion homeostasis • regulation of cell shape • erythrocyte maturation • cytoskeleton organization Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	2038	13828
Ensembl	ENSG00000166947	ENSMUSG00000023216
UniProt	P16452	P49222
RefSeq (mRNA)	NM_000119 NM_001114134	NM_013513
RefSeq (protein)	NP_000110 NP_001107606	NP_038541
Location (UCSC)	Chr 15: 43.11 – 43.22 Mb	Chr 15: 121.02 – 121.04 Mb
PubMed search

2038

13828

ENSG00000166947

ENSMUSG00000023216

P16452

P49222

NM_000119
NM_001114134

NM_013513

NP_000110
NP_001107606

NP_038541

Erythrocyte membrane protein band 4.2 is a protein that in humans is encoded by the EPB42 gene.

Protein 4.2 is a cytoskeleton protein found in red blood cells.

Erythrocyte membrane protein band 4.2 is an ATP-binding protein which may regulate the association of band 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.

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