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

    Gene ID: 2038, updated on 2-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:3381
    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
    mouse all
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    Genomic context

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    See EPB42 in Genome Data Viewer
    Location:
    15q15.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (43197227..43225737, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (41004516..41033028, complement)
    RS_2024_09 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 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:43459413-43460109 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:43467716-43468216 Neighboring gene uncharacterized LOC124903478 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6383 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6384 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9310 Neighboring gene cyclin D1 binding protein 1 Neighboring gene Sharpr-MPRA regulatory region 15360 Neighboring gene transglutaminase 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9311 Neighboring gene ATP synthase peripheral stalk subunit d pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Human erythrocyte protein 4.2: isoform expression, differential splicing, and chromosomal assignment. Sung LA, et al. Blood, 1992 May 15. PMID 1350227
    2. Human erythrocyte protein 4.2, a high copy number membrane protein, is N-myristylated. Risinger MA, et al. J Biol Chem, 1992 Mar 15. PMID 1544941
    3. Structural domain mapping and phosphorylation of human erythrocyte pallidin (band 4.2). Dotimas E, et al. Biochim Biophys Acta, 1993 May 14. PMID 8499466
    4. Mapping of a palmitoylatable band 3-binding domain of human erythrocyte membrane protein 4.2. Bhattacharyya R, et al. Biochem J, 1999 Jun 1. PMID 10333496, Free PMC Article
    5. EPB42-Related Hereditary Spherocytosis. Adam MP, et al. , 1993. PMID 24624460

    See all (45) citations in PubMed

    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

    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Hereditary spherocytosis type 5
    MedGen: C2675192 OMIM: 612690 GeneReviews: EPB42-Related Hereditary Spherocytosis
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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
    		  
    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 multicellular organismal-level iron ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in peptide cross-linking IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    part_of ankyrin-1 complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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

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

    NCBI Reference Sequences (RefSeq)

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    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_000119.3 → NP_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/TrEMBL
      B7Z4C3
      Related
      ENSP00000497777.1, ENST00000648595.1
      Conserved Domains (3) summary
      smart00460
      Location:291 → 382
      TGc; Transglutaminase/protease-like homologues
      pfam00868
      Location:37 → 153
      Transglut_N; Transglutaminase family
      pfam00927
      Location:618 → 716
      Transglut_C; Transglutaminase family, C-terminal ig like domain

    2. NM_001114134.2 → NP_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, Q4KKX0, Q4VB97
      UniProtKB/TrEMBL
      B7Z4C3
      Related
      ENSP00000396616.2, ENST00000441366.7
      Conserved Domains (3) summary
      smart00460
      Location:261 → 352
      TGc; Transglutaminase/protease-like homologues
      pfam00868
      Location:4 → 124
      Transglut_N; Transglutaminase family
      pfam00927
      Location:588 → 686
      Transglut_C; Transglutaminase family, C-terminal ig like domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      43197227..43225737 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521351.3 → XP_011519653.1  protein 4.2 isoform X1

      See identical proteins and their annotated locations for XP_011519653.1

      UniProtKB/TrEMBL
      B7Z4C3
      Conserved Domains (3) summary
      smart00460
      Location:291 → 382
      TGc; Transglutaminase/protease-like homologues
      pfam00868
      Location:37 → 153
      Transglut_N; Transglutaminase family
      pfam00927
      Location:618 → 716
      Transglut_C; Transglutaminase family, C-terminal ig like domain

    2. XM_011521350.3 → XP_011519652.1  protein 4.2 isoform X1

      See identical proteins and their annotated locations for XP_011519652.1

      UniProtKB/TrEMBL
      B7Z4C3
      Conserved Domains (3) summary
      smart00460
      Location:291 → 382
      TGc; Transglutaminase/protease-like homologues
      pfam00868
      Location:37 → 153
      Transglut_N; Transglutaminase family
      pfam00927
      Location:618 → 716
      Transglut_C; Transglutaminase family, C-terminal ig like domain

    3. XM_005254225.2 → XP_005254282.1  protein 4.2 isoform X4

      UniProtKB/TrEMBL
      B7Z4C3
      Conserved Domains (3) summary
      smart00460
      Location:226 → 317
      TGc; Transglutaminase/protease-like homologues
      pfam00868
      Location:7 → 123
      Transglut_N; Transglutaminase family
      pfam00927
      Location:553 → 651
      Transglut_C; Transglutaminase family, C-terminal ig like domain

    4. XM_011521352.3 → XP_011519654.1  protein 4.2 isoform X2

      UniProtKB/TrEMBL
      B7Z4C3
      Conserved Domains (3) summary
      smart00460
      Location:279 → 370
      TGc; Transglutaminase/protease-like homologues
      pfam00868
      Location:37 → 153
      Transglut_N; Transglutaminase family
      pfam00927
      Location:606 → 704
      Transglut_C; Transglutaminase family, C-terminal ig like domain

    5. XM_011521353.3 → XP_011519655.1  protein 4.2 isoform X3

      UniProtKB/TrEMBL
      B7Z4C3
      Conserved Domains (3) summary
      smart00460
      Location:256 → 347
      TGc; Transglutaminase/protease-like homologues
      pfam00868
      Location:37 → 153
      Transglut_N; Transglutaminase family
      pfam00927
      Location:583 → 681
      Transglut_C; Transglutaminase family, C-terminal ig like domain

    6. XM_011521354.2 → XP_011519656.1  protein 4.2 isoform X5

      UniProtKB/TrEMBL
      F5H563
      Conserved Domains (2) summary
      smart00460
      Location:106 → 197
      TGc; Transglutaminase/protease-like homologues
      pfam00927
      Location:433 → 531
      Transglut_C; Transglutaminase family, C-terminal ig like domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      41004516..41033028 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377485.1 → XP_054233460.1  protein 4.2 isoform X1

    2. XM_054377484.1 → XP_054233459.1  protein 4.2 isoform X1

    3. XM_054377483.1 → XP_054233458.1  protein 4.2 isoform X1

    4. XM_054377488.1 → XP_054233463.1  protein 4.2 isoform X4

    5. XM_054377486.1 → XP_054233461.1  protein 4.2 isoform X2

    6. XM_054377487.1 → XP_054233462.1  protein 4.2 isoform X3

    7. XM_054377489.1 → XP_054233464.1  protein 4.2 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P16452.3 GenPept UniProtKB/Swiss-Prot:P16452

    Gene LinkOut

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