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EPB42 erythrocyte membrane protein band 4.2 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000119 Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $849.00 20
NM_001114134 Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 2, mRNA. GenEZ ORF Cloning In-stock $639.00 $590.00 15
XM_005254225 PREDICTED: Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $849.00 20

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Gene Symbol EPB42
Entrez Gene ID 2038
Full Name erythrocyte membrane protein band 4.2
Synonyms PA, SPH5
General protein information
Preferred Names
erythrocyte membrane protein band 4.2
Names
erythrocyte membrane protein band 4.2
P4.2
erythrocyte protein 4.2
erythrocyte surface protein band 4.2
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

15

15q15-q21

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].
Disorder

MIM: 177070

Spherocytosis, hereditary, type 5, 612690 (3)

mRNA Protein Product Sequence Price Select
NM_000119, 166362734 NP_000110, 166362735 erythrocyte membrane protein band 4.2 isoform 1 ORF Sequence $700.00
NM_001114134, 166362736 NP_001107606, 166362737 erythrocyte membrane protein band 4.2 isoform 2 ORF Sequence $490.00
XM_005254225, 530405518 XP_005254282, 530405519 erythrocyte membrane protein band 4.2 isoform X1 ORF Sequence $700.00
Homo sapiens (human)EPB42NP_000110.2
Pan troglodytes (chimpanzee)EPB42XP_510346.2
Macaca mulatta (Rhesus monkey)LOC709427XP_002808491.1
Canis lupus familiaris (dog)EPB42XP_005638380.1
Bos taurus (cattle)EPB42NP_776737.1
Mus musculus (house mouse)Epb4.2NP_038541.1
Rattus norvegicus (Norway rat)Epb42NP_001102060.1
Gallus gallus (chicken)EPB42XP_417393.2
Xenopus (Silurana) tropicalis (western clawed frog)epb42XP_002935587.2
Process
IDNameEvidence
GO:0000902cell morphogenesisIEA
GO:0008360regulation of cell shapeIEA
GO:0018149peptide cross-linkingIEA
GO:0020027hemoglobin metabolic processIEA
GO:0043249erythrocyte maturationIEA
GO:0048536spleen developmentIEA
GO:0055072iron ion homeostasisIEA
Component
IDNameEvidence
GO:0005856cytoskeletonTAS
GO:0005886plasma membraneIEA
GO:0030863cortical cytoskeletonIEA
Function
IDNameEvidence
GO:0003810protein-glutamine gamma-glutamyltransferase activityIEA
GO:0005200structural constituent of cytoskeletonTAS
GO:0005515protein bindingIPI
GO:0005524ATP bindingTAS
GeneCards EPB42
UniProt P16452
Vega OTTHUMG00000130701
MIM 177070
Ensembl ENSG00000166947
HGNC 3381
HPRD 01517

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Interactant

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