Homo sapiens Gene: EPB42

Summary
InnateDB Gene IDBG-8275.5
Last Modified 2012-02-14   [Report errors or provide feedback]
Gene Symbol EPB42
Gene Name erythrocyte membrane protein band 4.2
Synonyms PA; SPH5
Species Homo sapiens
Ensembl Gene ENSG00000166947
Encoded Proteins
IDBP-8277 erythrocyte membrane protein band 4.2
IDBP-369190 erythrocyte membrane protein band 4.2
IDBP-597311 erythrocyte membrane protein band 4.2
IDBP-747103
IDBP-745371
IDBP-744561
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 15: 43398423-43513481
Strand Reverse strand
Band q15.2
Transcripts
ENST00000300215  ENSP00000300215
ENST00000441366  ENSP00000396616
ENST00000540029  ENSP00000444699
ENST00000565459  ENSP00000457757
ENST00000568508  ENSP00000457140
ENST00000570199 
ENST00000567019 
ENST00000569204  ENSP00000455489
ENST00000563128 
Interactions
Number of Interactions   This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
Experimentally validated
Total 10 [view]
Protein‑Protein  10
[view]
Protein‑DNA 0
Protein‑RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
 
Gene Ontology
Accession GO Term
Molecular Function
GO:0003810 protein-glutamine gamma-glutamyltransferase activity
GO:0005200 structural constituent of cytoskeleton
GO:0005515 protein binding
GO:0005524 ATP binding
Biological Process
GO:0000902 cell morphogenesis
GO:0008360 regulation of cell shape
GO:0018149 peptide cross-linking
GO:0020027 hemoglobin metabolic process
GO:0043249 erythrocyte maturation
GO:0048536 spleen development
GO:0050801 ion homeostasis
GO:0055072 iron ion homeostasis
Cellular Component
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0030863 cortical cytoskeleton
Orthologs
Species
Mus musculus
Bos taurus
Gene ID Gene Order Method Confidence Comments
ENSMUSG00000023216 Ortholuge Non-SSD Ortholog Possible paralog/unusual divergence/ gene prediction error
ENSBTAG00000011439 Not yet available Ortholuge Non-SSD Ortholog Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt P16452 
TrEMBL F5H563 H3BPV8 H3BTE6 Q4VB96
UniProt Splice Variant
Entrez Gene 2038 
UniGene Hs.368642 Hs.737787
RefSeq NM_000119  NM_001114134 
HUGO 3381 
OMIM 177070
CCDS CCDS10093  CCDS45249 
HPRD 01517
IMGT
EMBL AC068724 BC096093 BC096094 BC096095 CH471125 L06447 L06448 L06449 L06450 L06511 L06512 L06513 L06515 L06516 L06517 L06518 L06519 M29399 M30646 M30647 M60298
GenPept AAA35798  AAA36401  AAA36402  AAA52385  AAA74589  AAH96093  AAH96094  AAH96095  EAW92591 
ImmGen EPB42 (murine) 
RNA Seq Atlas 2038