InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: EPB42

Summary

InnateDB Protein

IDBP-8277.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

EPB42

Protein Name

erythrocyte membrane protein band 4.2

Synonyms

PA; SPH5;

Species

Homo sapiens

Ensembl Protein

ENSP00000300215

InnateDB Gene

IDBG-8275 (EPB42)

Protein Structure

UniProt Annotation

Function

Probably plays an important role in the regulation of erythrocyte shape and mechanical properties.

Subcellular Localization

Cell membrane; Lipid-anchor; Cytoplasmic side. Cytoplasm, cytoskeleton. Note=Cytoplasmic surface of erythrocyte membranes.

Disease Associations

Spherocytosis 5 (SPH5) [MIM:612690]: 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. {ECO:0000269PubMed:10406914, ECO:0000269PubMed:1558976, ECO:0000269PubMed:7772513, ECO:0000269PubMed:7819064, ECO:0000269PubMed:8547071, ECO:0000269PubMed:8547605}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.

Experimentally validated
Total	7 [view]
Protein-Protein	7 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003810	protein-glutamine gamma-glutamyltransferase activity
GO:0005200	structural constituent of cytoskeleton
GO:0005515	protein binding
GO:0005524	ATP binding

Biological Process

GO:0000902	cell morphogenesis
GO:0008360	regulation of cell shape
GO:0018149	peptide cross-linking
GO:0020027	hemoglobin metabolic process
GO:0043249	erythrocyte maturation
GO:0048536	spleen development
GO:0050801	ion homeostasis
GO:0055072	iron ion homeostasis