RBCC Red Blood Cell Collection

EPB42_HUMAN

Source: hRBCD ; ID: IPI00028120
PM19886704
PM23856902
BSc_CH
PM22954596
Marked as 'Membrane associated protein'
Confidence: high (present in two of the MS resources) Search PubMed for
(RBC AND this entry)
Gene names: EPB42 , E42P
Protein names and data: EPB42_HUMAN , Erythrocyte membrane protein band 4.2; Erythrocyte protein 4.2; P4.2 Lenght: 691 a.a.
Mass: 77009 Da
fasta formatted sequence
Function: Probably plays an important role in the regulation of erythrocyte shape and mechanical properties.
Disease: ( OMIM: 177070 612690 ) 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cell membrane; Lipid-anchor; Cytoplasmic side. Cytoplasm, cytoskeleton. Note=Cytoplasmic surface of erythrocyte membranes.

Genetic variants

112 - 112 A -> T (in SPH5; Nippon/Fukuoka; dbSNP:rs28933988). VAR_007482 28933988
145 - 145 D -> Y (in SPH5; Komatsu). VAR_058099
280 - 280 R -> Q (in SPH5; Tozeur). VAR_012268
287 - 287 R -> C (in SPH5; Shiga). VAR_058100

Database cross-references

UniProt: P16452
Ensembl: ENST00000300215
Ensembl: ENST00000441366
MIM: 177070
MIM: 612690
neXtProt: NX_P16452
Antibodypedia: P16452 (may not find the protein thus also not any antibody)
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