EPB42 (erythrocyte membrane protein band 4.2)

2014-11-01  

Identity

HGNC
LOCATION
15q15.2
LOCUSID
ALIAS
PA,SPH5

Other Information

Locus ID:

NCBI: 2038
MIM: 177070
HGNC: 3381
Ensembl: ENSG00000166947

Variants:

dbSNP: 2038
ClinVar: 2038
TCGA: ENSG00000166947
COSMIC: EPB42

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166947ENST00000441366P16452
ENSG00000166947ENST00000540029F5H563
ENSG00000166947ENST00000565459H3BUR1
ENSG00000166947ENST00000569204H3BPV8
ENSG00000166947ENST00000622454P16452
ENSG00000166947ENST00000648595P16452

Expression (GTEx)

0
5
10
15
20
25
30

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
210393402011Protein 4.2 interaction with hereditary spherocytosis mutants of the cytoplasmic domain of human anion exchanger 1.7
210393402011Protein 4.2 interaction with hereditary spherocytosis mutants of the cytoplasmic domain of human anion exchanger 1.7
200079692010Protein 4.2 binds to the carboxyl-terminal EF-hands of erythroid alpha-spectrin in a calcium- and calmodulin-dependent manner.10
200079692010Protein 4.2 binds to the carboxyl-terminal EF-hands of erythroid alpha-spectrin in a calcium- and calmodulin-dependent manner.10
192692002009Protein 4.2: a complex linker.25
192692002009Protein 4.2: a complex linker.25
167183732006Associations of protein 4.2 with band 3 and ankyrin.7
167183732006Associations of protein 4.2 with band 3 and ankyrin.7
145511462004Protein 4.2 is critical to CD47-membrane skeleton attachment in human red cells.16
145511462004Protein 4.2 is critical to CD47-membrane skeleton attachment in human red cells.16
123934672003Evidence that the red cell skeleton protein 4.2 interacts with the Rh membrane complex member CD47.42
123934672003Evidence that the red cell skeleton protein 4.2 interacts with the Rh membrane complex member CD47.42
120496492002Mapping of a spectrin-binding domain of human erythrocyte membrane protein 4.2.6
120496492002Mapping of a spectrin-binding domain of human erythrocyte membrane protein 4.2.6

Citation

Dessen P

EPB42 (erythrocyte membrane protein band 4.2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62858/epb42-(erythrocyte-membrane-protein-band-4-2)