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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for EPB42 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID2038
Official gene symbolEPB42
Full nameerythrocyte membrane protein band 4.2
Aliases,MGC116735,MGC116737,PA,SPH5,
Gene summaryErythrocyte 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]
LocationChromosome: 15   Locus: 15q15-q21
Gene position43513323 - 43489425  Map Viewer
Gene orientationminus
Gene size23899 bp
Gene sequence
OMIM ID177070