Version 5.4
Homo sapiens Gene: EPB42
Summary
InnateDB Gene IDBG-8275.6
Last Modified 2014-10-13 [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
IDBP-813102
erythrocyte membrane protein band 4.2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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 15:43106225-43221283
Strand Reverse strand
Band q15.2
Transcripts
ENST00000300215 ENSP00000300215
ENST00000441366 ENSP00000396616
ENST00000540029 ENSP00000444699
ENST00000565459 ENSP00000457757
ENST00000568508 ENSP00000457140
ENST00000570199
ENST00000567019
ENST00000569204 ENSP00000455489
ENST00000563128
ENST00000622454 ENSP00000481226
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
Experimentally validated
Total 7 [view]
Protein-Protein 7 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
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
ENSMUSG00000023216
View Gene Order
ENSBTAG00000011439
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.368642 Hs.737787
RefSeq NM_000119 NM_001114134
HUGO
OMIM
CCDS CCDS10093 CCDS45249
HPRD 01517
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca