NP_000110.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
69,455 Da
NCBI Official Full Name
erythrocyte membrane protein band 4.2 isoform 1
NCBI Official Synonym Full Names
erythrocyte membrane protein band 4.2
NCBI Official Synonym Symbols
NCBI Protein Information
erythrocyte membrane protein band 4.2
UniProt Protein Name
Erythrocyte membrane protein band 4.2
UniProt Synonym Gene Names
NCBI Summary for 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]
UniProt Comments for EPB42
Epb4.2: Probably plays an important role in the regulation of erythrocyte shape and mechanical properties. Defects in EPB42 are the cause of spherocytosis type 5 (SPH5); also known as hereditary spherocytosis type 5 (HS5). 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. Belongs to the transglutaminase superfamily. Transglutaminase family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Cytoskeletal
Chromosomal Location of Human Ortholog: 15q15.2
Cellular Component: cortical cytoskeleton; cytoskeleton; plasma membrane
Molecular Function: ATP binding; protein binding; protein-glutamine gamma-glutamyltransferase activity; structural constituent of cytoskeleton
Biological Process: cell morphogenesis; cytoskeleton organization; erythrocyte maturation; hemoglobin metabolic process; iron ion homeostasis; peptide cross-linking; regulation of cell shape; spleen development
Disease: Spherocytosis, Type 5
Research Articles on EPB42
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Products associated with anti-EPB42 antibody
Organs/Tissues associated with anti-EPB42 antibody
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