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    Epb42 erythrocyte membrane protein band 4.2 [ Mus musculus (house mouse) ]

    Gene ID: 13828, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Epb42provided by MGI
    Official Full Name
    erythrocyte membrane protein band 4.2provided by MGI
    Primary source
    MGI:MGI:95402
    See related
    Ensembl:ENSMUSG00000023216 AllianceGenome:MGI:95402
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Epb4.2
    Summary
    The protein encoded by this gene is the key component of a macromolecular complex involved in the structure of erythrocytes. [provided by RefSeq, Aug 2015]
    Expression
    Biased expression in liver E14.5 (RPKM 57.9), liver E14 (RPKM 55.2) and 3 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Epb42 in Genome Data Viewer
    Location:
    2 E5; 2 60.37 cM
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (120848372..120867358, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (121017891..121036877, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene transmembrane protein 62 Neighboring gene small nucleolar RNA, C/D box 3B, pseudogene 2 Neighboring gene cyclin D-type binding-protein 1 Neighboring gene STARR-seq mESC enhancer starr_05521 Neighboring gene WW domain binding protein 2 pseudogene Neighboring gene transglutaminase 5 Neighboring gene transglutaminase 7

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Mitapivat reprograms the RBC metabolome and improves anemia in a mouse model of hereditary spherocytosis. Matte A, et al. JCI Insight, 2023 Oct 23. PMID 37676741, Free PMC Article
    2. Induction of erythrocyte protein 4.2 gene expression during differentiation of murine erythroleukemia cells. Karacay B, et al. Genomics, 1999 Jul 1. PMID 10395794
    3. Developmental expression of mouse erythrocyte protein 4.2 mRNA: evidence for specific expression in erythroid cells. Zhu L, et al. Blood, 1998 Jan 15. PMID 9427728
    4. Molecular cloning of mouse erythrocyte protein 4.2: a membrane protein with strong homology with the transglutaminase supergene family. Rybicki AC, et al. Mamm Genome, 1994 Jul. PMID 7919657
    5. The murine erythrocyte protein-4.2-encoding gene: similarities and differences in structure and expression from its human counterpart. Karacay B, et al. Gene, 1995 Jun 9. PMID 7607550

    See all (47) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Data show that a nuclear complex containing TAL1 and LIM domain-binding protein Ldb1 transactivates the protein 4.2 (P4.2) gene
      Title: Identification of a TAL1 target gene reveals a positive role for the LIM domain-binding protein Ldb1 in erythroid gene expression and differentiation.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (1)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein-glutamine gamma-glutamyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein-glutamine gamma-glutamyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within cell morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in erythrocyte maturation IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within hemoglobin metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within monoatomic ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within multicellular organismal-level iron ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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
    		  
    acts_upstream_of_or_within spleen development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of ankyrin-1 complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of ankyrin-1 complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cortical cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    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 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.

    mRNA and Protein(s)

    1. NM_013513.3 → NP_038541.1  protein 4.2

      See identical proteins and their annotated locations for NP_038541.1

      Status: REVIEWED

      Source sequence(s)
      AK133896, AK143841, BY230962
      Consensus CDS
      CCDS16631.1
      UniProtKB/Swiss-Prot
      P49222, Q3UP33
      UniProtKB/TrEMBL
      Q6NXZ8
      Related
      ENSMUSP00000099548.4, ENSMUST00000102490.10
      Conserved Domains (3) summary
      smart00460
      Location:261 → 351
      TGc; Transglutaminase/protease-like homologues
      pfam00868
      Location:6 → 123
      Transglut_N; Transglutaminase family
      pfam00927
      Location:588 → 686
      Transglut_C; Transglutaminase family, C-terminal ig like domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      120848372..120867358 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006498727.3 → XP_006498790.1  protein 4.2 isoform X1

      UniProtKB/TrEMBL
      Q6NXZ8
      Conserved Domains (3) summary
      smart00460
      Location:261 → 351
      TGc; Transglutaminase/protease-like homologues
      pfam00868
      Location:5 → 124
      Transglut_N; Transglutaminase family
      pfam00927
      Location:588 → 685
      Transglut_C; Transglutaminase family, C-terminal ig like domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P49222.3 GenPept UniProtKB/Swiss-Prot:P49222

    Gene LinkOut

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

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