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

Gene ID: 13828, updated on 14-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 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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