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; OMA:EPB42 - orthologs
Gene location (Human)
Chr.	Chromosome 15 (human)
End	43,221,018 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	120,867,553 bp
RNA expression pattern
	Top expressed in
	blood; ; bone marrow; ; bone marrow cells; ; gonad; ; monocyte; ; testicle; ; placenta; ; right testis; ; left testis; ; subcutaneous adipose tissue;
	Top expressed in
	fetal liver hematopoietic progenitor cell; ; human fetus; ; red pulp; ; blood; ; tibiofemoral joint; ; yolk sac; ; body of femur; ; right lobe of liver; ; genital tubercle; ; bone marrow;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	structural constituent of cytoskeleton; protein-glutamine gamma-glutamyltransferase activity; protein binding; ATP binding;
Cellular component	cytoplasm; plasma membrane; cytoskeleton; membrane; cortical cytoskeleton;
Biological process	peptide cross-linking; regulation of cell shape; erythrocyte maturation; cytoskeleton organization; cell morphogenesis; hemoglobin metabolic process; spleen development; ion homeostasis; iron ion homeostasis;
	Sources:Amigo / QuickGO
Orthologs
	2038
	13828
	ENSG00000166947
	ENSMUSG00000023216
	P16452
	P49222
	NM_000119; NM_001114134
	NM_013513
	NP_000110; NP_001107606
	NP_038541
	Wikidata
View/Edit Human	View/Edit Mouse

Erythrocyte membrane protein band 4.2 is a protein that in humans is encoded by the EPB42 gene. It is part of the red blood cell cytoskeleton.

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.