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    EPB42 erythrocyte membrane protein band 4.2 [ Homo sapiens ]

    Gene ID: 2038, updated on 11-May-2012
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    Summary

    Official Symbol
    EPB42provided by HGNC
    Official Full Name
    erythrocyte membrane protein band 4.2provided by HGNC
    Primary source
    HGNC:3381
    See related
    Ensembl:ENSG00000166947; HPRD:01517; MIM:177070; Vega:OTTHUMG00000130701
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PA; SPH5; MGC116735; MGC116737
    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]
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    Genomic context

    Location :
    15q15-q21
    Sequence :
    Chromosome: 15; NC_000015.9 (43489425..43513323, complement)
    See EPB42 in Epigenomics, MapViewer

    Chromosome 15 - NC_000015.9Genomic Context describing neighboring genes Neighboring gene transmembrane protein 62 Neighboring gene farnesyl diphosphate synthase pseudogene 10 Neighboring gene cyclin D-type binding-protein 1 Neighboring gene transglutaminase 5 Neighboring gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d, pseudogene 1

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Protein 4.2 interaction with hereditary spherocytosis mutants of the cytoplasmic domain of human anion exchanger 1. Bustos SP, et al. Biochem J, 2011 Jan 15. PMID 21039340.
    2. Protein 4.2 binds to the carboxyl-terminal EF-hands of erythroid alpha-spectrin in a calcium- and calmodulin-dependent manner. Korsgren C, et al. J Biol Chem, 2010 Feb 12. PMID 20007969.
    3. Protein 4.2: a complex linker. Satchwell TJ, et al. Blood Cells Mol Dis, 2009 May-Jun. PMID 19269200.
    4. Protein interaction data set highlighted with human Ras-MAPK/PI3K signaling pathways. Wang J, et al. J Proteome Res, 2008 Sep. PMID 18624398.
    5. Associations of protein 4.2 with band 3 and ankyrin. Su Y, et al. Mol Cell Biochem, 2006 Sep. PMID 16718373.

    See all (37) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

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

    1. study shows that cytoplasmic hereditary spherocytosis mutants cause impaired binding of protein 4.2 to AE1, leaving protein 4.2 susceptible to loss during erythrocyte development
      Title: Protein 4.2 interaction with hereditary spherocytosis mutants of the cytoplasmic domain of human anion exchanger 1.
    2. Data suggest that one or both of proteins 4.1 and 4.2 cause a portion of band 3 to localize near the spectrin-actin junctions and provide another point of attachment between the membrane skeleton and the lipid bilayer.
      Title: Protein 4.2 binds to the carboxyl-terminal EF-hands of erythroid alpha-spectrin in a calcium- and calmodulin-dependent manner.
    3. Current understanding of protein 4.2, its known interactions & implications of protein 4.2 deficiency are reviewed. A new speculative "open" homology structure for the the active, membrane associated form is proposed. Review.
      Title: Protein 4.2: a complex linker.
    4. The interactions of three protein 4.2-derived recombinant proteins with CDB3 and ankyrin were investigated by using Far-Western blot and pull-down assay.
      Title: Associations of protein 4.2 with band 3 and ankyrin.
    5. Evidence protein 4.2 interacts with the Rh membrane complex member CD47 obtained from red cells of patients with hereditary spherocytosis associated with complete protein 4.2 deficiency
      Title: Evidence that the red cell skeleton protein 4.2 interacts with the Rh membrane complex member CD47.
    6. protein 4.2 strongly influences CD47 levels as well as the extent of membrane skeleton attachment in erythrocytes
      Title: Protein 4.2 is critical to CD47-membrane skeleton attachment in human red cells.
    7. spectrin binding domain
      Title: Mapping of a spectrin-binding domain of human erythrocyte membrane protein 4.2.
    Submit: New GeneRIF Correction
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Spherocytosis, hereditary, Japanese type

    Spherocytosis, hereditary, type 5

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_000110.1 NP_115955.1 SPINK7    BIND  PubMed ECRG2 interacts with EPB42. 
    P16452 P16157 ANK1    HPRD  PubMed  
    P16452 Q08722 CD47    HPRD  PubMed  
    P16452 Q9NUP1 CNO    HPRD  PubMed  
    P16452 P11171 EPB41    HPRD  PubMed  
    P16452 Q08495 EPB49    HPRD  PubMed  
    P16452 P01116 KRAS    HPRD  PubMed  
    P16452 P04920 SLC4A2    HPRD  PubMed  
    P16452 P58062 SPINK7    HPRD  PubMed  
    P16452 Q13813 SPTAN1    HPRD  PubMed  
    P16452 Q86Y82 STX12    HPRD  PubMed  
    BioGRID:108352 BioGRID:106784 ANK2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108352 BioGRID:110043 KRAS    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108352 BioGRID:107819 MAPK14    BioGRID  PubMed Two-hybrid 
    BioGRID:108352 BioGRID:112412 SLC4A1    BioGRID  PubMed Protein-peptide 
    BioGRID:108352 BioGRID:124174 SPINK7    BioGRID  PubMed Two-hybrid 
    BioGRID:108352 BioGRID:112587 SPTAN1    BioGRID  PubMed Reconstituted Complex 
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    General gene information

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    protein-glutamine gamma-glutamyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    structural constituent of cytoskeleton TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    erythrocyte maturation IEA
    Inferred from Electronic Annotation
    more info
    		  
    peptide cross-linking IEA
    Inferred from Electronic Annotation
    more info
    		  
    regulation of cell shape IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
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    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
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011505.1 RefSeqGene

      Range
      5001..28899
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000119.2 → NP_000110.2  erythrocyte membrane protein band 4.2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      BC096093, BU741892, DW451374, M60298
      Consensus CDS
      CCDS10093.1
      UniProtKB/Swiss-Prot
      P16452
      Related
      ENSP00000300215, OTTHUMP00000161294, ENST00000300215, OTTHUMT00000253201
      Conserved Domains (3) summary
      pfam00868
      Location:35 – 156
      Blast Score: 389
      Transglut_N; Transglutaminase family
      pfam00927
      Location:620 – 714
      Blast Score: 216
      Transglut_C; Transglutaminase family, C-terminal ig like domain
      cl10469
      Location:291 – 382
      Blast Score: 143
      Transglut_core; Transglutaminase-like superfamily

    2. NM_001114134.1 → NP_001107606.1  erythrocyte membrane protein band 4.2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate splice site in the 5' region, as compared to variant 1. The resulting isoform 2 lacks an internal segment in the N-terminal region, as compared to isoform 1.
      Source sequence(s)
      BC096094, BU741892, DW451374
      Consensus CDS
      CCDS45249.1
      UniProtKB/Swiss-Prot
      P16452
      Related
      ENSP00000396616, OTTHUMP00000254381, ENST00000441366, OTTHUMT00000432219
      Conserved Domains (3) summary
      pfam00868
      Location:5 – 126
      Blast Score: 388
      Transglut_N; Transglutaminase family
      pfam00927
      Location:590 – 684
      Blast Score: 215
      Transglut_C; Transglutaminase family, C-terminal ig like domain
      cl10469
      Location:261 – 352
      Blast Score: 142
      Transglut_core; Transglutaminase-like superfamily

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000015.9 Reference GRCh37.p5 Primary Assembly

      Range
      43489425..43513323, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000147.1 Alternate HuRef

      Range
      20338220..20362120, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC068724.7 (136764..160817) None
    genomic CH471125.1 EAW92591.1
      EAW92592.1
    genomic L06519.1 AAA52385.1
    mRNA AK297146.1 BAH12509.1
    mRNA AK297663.1 BAH12644.1
    mRNA BC096093.4 AAH96093.1
    mRNA BC096094.2 AAH96094.1
    mRNA BC096095.4 AAH96095.1
    mRNA BC099627.1 AAH99627.1
    mRNA BU741892.1 None
    mRNA DW451374.1 None
    mRNA M29399.1 AAA35798.1
    mRNA M30646.1 AAA36402.1
    mRNA M30647.1 AAA36401.1
    mRNA M60298.1 AAA74589.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P16452.3 GenPept UniProtKB/Swiss-Prot:P16452
    Q4KKX0 GenPept UniProtKB/TrEMBL:Q4KKX0
    Q4VB96 GenPept UniProtKB/TrEMBL:Q4VB96
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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