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

    Gene ID: 2038, updated on 11-Jun-2021

    Summary

    Official Symbol
    EPB42provided by HGNC
    Official Full Name
    erythrocyte membrane protein band 4.2provided by HGNC
    Primary source
    HGNC:HGNC:3381
    See related
    Ensembl:ENSG00000166947 MIM:177070
    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
    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]
    Expression
    Restricted expression toward bone marrow (RPKM 26.6) See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See EPB42 in Genome Data Viewer
    Location:
    15q15.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (43197227..43225856, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (43489425..43513216, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene transmembrane protein 62 Neighboring gene farnesyl diphosphate synthase pseudogene 10 Neighboring gene cyclin D1 binding protein 1 Neighboring gene transglutaminase 5 Neighboring gene ATP synthase peripheral stalk subunit d pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Related articles in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    nucleocapsid gag HIV-1 NC upregulates erythrocyte membrane protein band 4.2 (EPB42) in HEK 293T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC116735, MGC116737

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-glutamine gamma-glutamyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables structural constituent of cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in erythrocyte maturation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hemoglobin metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in iron ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in peptide cross-linking IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of cell shape IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in spleen development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cortical cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    protein 4.2
    Names
    P4.2
    erythrocyte protein 4.2
    erythrocyte surface protein band 4.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_011505.2 RefSeqGene

      Range
      9839..33630
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1171

    mRNA and Protein(s)

    1. NM_000119.3NP_000110.2  protein 4.2 isoform 1

      See identical proteins and their annotated locations for NP_000110.2

      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
      ENSP00000497777.1, ENST00000648595.1
      Conserved Domains (3) summary
      smart00460
      Location:291382
      TGc; Transglutaminase/protease-like homologues
      pfam00868
      Location:37153
      Transglut_N; Transglutaminase family
      pfam00927
      Location:618716
      Transglut_C; Transglutaminase family, C-terminal ig like domain
    2. NM_001114134.2NP_001107606.1  protein 4.2 isoform 2

      See identical proteins and their annotated locations for NP_001107606.1

      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
      ENSP00000396616.2, ENST00000441366.7
      Conserved Domains (3) summary
      smart00460
      Location:261352
      TGc; Transglutaminase/protease-like homologues
      pfam00868
      Location:4124
      Transglut_N; Transglutaminase family
      pfam00927
      Location:588686
      Transglut_C; Transglutaminase family, C-terminal ig like domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

      Range
      43197227..43225856 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521351.2XP_011519653.1  protein 4.2 isoform X1

      See identical proteins and their annotated locations for XP_011519653.1

      UniProtKB/Swiss-Prot
      P16452
      Conserved Domains (3) summary
      smart00460
      Location:291382
      TGc; Transglutaminase/protease-like homologues
      pfam00868
      Location:37153
      Transglut_N; Transglutaminase family
      pfam00927
      Location:618716
      Transglut_C; Transglutaminase family, C-terminal ig like domain
    2. XM_011521350.2XP_011519652.1  protein 4.2 isoform X1

      See identical proteins and their annotated locations for XP_011519652.1

      UniProtKB/Swiss-Prot
      P16452
      Conserved Domains (3) summary
      smart00460
      Location:291382
      TGc; Transglutaminase/protease-like homologues
      pfam00868
      Location:37153
      Transglut_N; Transglutaminase family
      pfam00927
      Location:618716
      Transglut_C; Transglutaminase family, C-terminal ig like domain
    3. XM_011521349.2XP_011519651.1  protein 4.2 isoform X1

      See identical proteins and their annotated locations for XP_011519651.1

      UniProtKB/Swiss-Prot
      P16452
      Conserved Domains (3) summary
      smart00460
      Location:291382
      TGc; Transglutaminase/protease-like homologues
      pfam00868
      Location:37153
      Transglut_N; Transglutaminase family
      pfam00927
      Location:618716
      Transglut_C; Transglutaminase family, C-terminal ig like domain
    4. XM_011521352.2XP_011519654.1  protein 4.2 isoform X2

      Conserved Domains (3) summary
      smart00460
      Location:279370
      TGc; Transglutaminase/protease-like homologues
      pfam00868
      Location:37153
      Transglut_N; Transglutaminase family
      pfam00927
      Location:606704
      Transglut_C; Transglutaminase family, C-terminal ig like domain
    5. XM_011521353.2XP_011519655.1  protein 4.2 isoform X3

      Conserved Domains (3) summary
      smart00460
      Location:256347
      TGc; Transglutaminase/protease-like homologues
      pfam00868
      Location:37153
      Transglut_N; Transglutaminase family
      pfam00927
      Location:583681
      Transglut_C; Transglutaminase family, C-terminal ig like domain
    6. XM_005254225.1XP_005254282.1  protein 4.2 isoform X4

      Conserved Domains (3) summary
      smart00460
      Location:226317
      TGc; Transglutaminase/protease-like homologues
      pfam00868
      Location:7123
      Transglut_N; Transglutaminase family
      pfam00927
      Location:553651
      Transglut_C; Transglutaminase family, C-terminal ig like domain
    7. XM_011521354.2XP_011519656.1  protein 4.2 isoform X5

      Conserved Domains (2) summary
      smart00460
      Location:106197
      TGc; Transglutaminase/protease-like homologues
      pfam00927
      Location:433531
      Transglut_C; Transglutaminase family, C-terminal ig like domain
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