EPB42

GENE INFORMATION

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Gene name

EPB42 (HGNC Symbol)

Synonyms

MGC116735, MGC116737, PA

Description

Erythrocyte membrane protein band 4.2 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

15

Cytoband

q15.2

Chromosome location (bp)

43106225 - 43221283

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000166947 (version 78.38)

Entrez gene

2038

UniProt

P16452 (UniProt - Evidence at protein level)

neXtProt

NX_P16452

Antibodypedia

EPB42 antibodies
 

PROTEIN VIEW

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EPB42-001
 
EPB42-003
 
EPB42-004
 
EPB42-005
 
EPB42-006
 
EPB42-008
 
EPB42-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

EPB42-001 ENSP00000300215
ENST00000300215
P16452
Show all »
Show » Show » 721 79.9 No 0
EPB42-003 ENSP00000396616
ENST00000441366
P16452
Show all »
Show » Show » 691 77 No 0
EPB42-004 ENSP00000444699
ENST00000540029
F5H563
Show all »
Show » Show » 613 68.2 No 0
EPB42-005 ENSP00000455489
ENST00000569204
H3BPV8
Show all »
Show » Show » 191 21.6 No 0
EPB42-006 ENSP00000457757
ENST00000565459
Show » Show » 147 16.3 No 0
EPB42-008 ENSP00000457140
ENST00000568508
H3BTE6
Show all »
Show » Show » 543 59.8 No 0
EPB42-201 ENSP00000481226
ENST00000622454
P16452
Show all »
Show » Show » 619 69.5 No 0