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    Efhd2 EF hand domain containing 2 [ Mus musculus (house mouse) ]

    Gene ID: 27984, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Efhd2provided by MGI
    Official Full Name
    EF hand domain containing 2provided by MGI
    Primary source
    MGI:MGI:106504
    See related
    Ensembl:ENSMUSG00000040659 AllianceGenome:MGI:106504
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    D4Wsu27e; 2600015J22Rik
    Summary
    Enables calcium ion binding activity. Predicted to be located in membrane raft. Is expressed in brain; embryo endoderm; extraembryonic component; gut; and heart. Orthologous to human EFHD2 (EF-hand domain family member D2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in duodenum adult (RPKM 142.8), small intestine adult (RPKM 133.3) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Efhd2 in Genome Data Viewer
    Location:
    4 D3; 4 74.75 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (141585453..141602231, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (141858142..141874920, complement)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene chymotrypsin C Neighboring gene chymotrypsin C, opposite strand Neighboring gene predicted gene, 35034 Neighboring gene forkhead-associated phosphopeptide binding domain 1, opposite strand 2 Neighboring gene predicted gene, 46874 Neighboring gene forkhead-associated phosphopeptide binding domain 1 Neighboring gene predicted gene, 42338

    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
    • 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. EFHD2 suppresses intestinal inflammation by blocking intestinal epithelial cell TNFR1 internalization and cell death. Wu J, et al. Nat Commun, 2024 Feb 12. PMID 38346956, Free PMC Article
    2. EFhd2/swiprosin-1 regulates LPS-induced macrophage recruitment via enhancing actin polymerization and cell migration. Tu Y, et al. Int Immunopharmacol, 2018 Feb. PMID 29288926
    3. Swiprosin-1 deficiency impairs macrophage immune response of septic mice. Zhang S, et al. JCI Insight, 2018 Feb 8. PMID 29415882, Free PMC Article
    4. Low level of swiprosin-1/EFhd2 in vestibular nuclei of spontaneously hypersensitive motion sickness mice. Wang ZB, et al. Sci Rep, 2017 Jan 27. PMID 28128226, Free PMC Article
    5. The adaptor protein Swiprosin-1/EFhd2 is dispensable for platelet function in mice. Morowski M, et al. PLoS One, 2014. PMID 25243606, Free PMC Article

    See all (54) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. EFHD2 regulates T cell receptor signaling and modulates T helper cell activation in early sepsis.
      Title: EFHD2 regulates T cell receptor signaling and modulates T helper cell activation in early sepsis.
    2. EFHD2 suppresses intestinal inflammation by blocking intestinal epithelial cell TNFR1 internalization and cell death.
      Title: EFHD2 suppresses intestinal inflammation by blocking intestinal epithelial cell TNFR1 internalization and cell death.
    3. miRNA-126a-3p participates in hippocampal memory via alzheimer's disease-related proteins.
      Title: miRNA-126a-3p participates in hippocampal memory via alzheimer's disease-related proteins.
    4. Calcium bursts allow rapid reorganization of EFhD2/Swip-1 cross-linked actin networks in epithelial wound closure.
      Title: Calcium bursts allow rapid reorganization of EFhD2/Swip-1 cross-linked actin networks in epithelial wound closure.
    5. EFhd2 brain interactome reveals its association with different cellular and molecular processes.
      Title: EFhd2 brain interactome reveals its association with different cellular and molecular processes.
    6. B Cell Speed and B-FDC Contacts in Germinal Centers Determine Plasma Cell Output via Swiprosin-1/EFhd2.
      Title: B Cell Speed and B-FDC Contacts in Germinal Centers Determine Plasma Cell Output via Swiprosin-1/EFhd2.
    7. Swiprosin-1/EFhD-2 Expression in Cardiac Remodeling and Post-Infarct Repair: Effect of Ischemic Conditioning.
      Title: Swiprosin-1/EFhD-2 Expression in Cardiac Remodeling and Post-Infarct Repair: Effect of Ischemic Conditioning.
    8. Study in LPS-induced or cecal ligation and puncture-induced sepsis in mice report that swiprosin-1 (also known as EFhd2) plays an important role in the macrophage immune response to sepsis in mice. Swiprosin-1 depletion causes higher mortality, more severe organ dysfunction, restrained macrophage recruitment in the lung and kidney, and attenuated inflammatory cytokine production.
      Title: Swiprosin-1 deficiency impairs macrophage immune response of septic mice.
    9. EFHD2 is an important regulator of T cell cytotoxicity and further studies should evaluate its role in T cell-mediated inflammation
      Title: EF Hand Domain Family Member D2 Is Required for T Cell Cytotoxicity.
    10. Together with our finding of severe hippocampal tauopathy in Efhd2 knockout mice, these data connect Efhd2 to impaired synaptic plasticity as present in Alzheimer's disease and identify a role of Efhd2 in neuronal survival and synaptic integration in the adult hippocampus
      Title: Impact of Swiprosin-1/Efhd2 on Adult Hippocampal Neurogenesis.
    Submit: New GeneRIF Correction See all GeneRIFs (22)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4) 
    • Targeted (5)  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 calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane raft IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    EF-hand domain-containing protein D2
    Names
    swiprosin-1

    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_025994.3 → NP_080270.2  EF-hand domain-containing protein D2

      See identical proteins and their annotated locations for NP_080270.2

      Status: PROVISIONAL

      Source sequence(s)
      AK048475
      Consensus CDS
      CCDS18885.1
      UniProtKB/Swiss-Prot
      Q9D0P4, Q9D8Y0
      UniProtKB/TrEMBL
      Q8C845
      Related
      ENSMUSP00000044502.4, ENSMUST00000036854.4
      Conserved Domains (2) summary
      cd00051
      Location:96 → 154
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      pfam13499
      Location:97 → 154
      EF-hand_7; EF-hand domain pair

    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_000070.7 Reference GRCm39 C57BL/6J

      Range
      141585453..141602231 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D8Y0.1 GenPept UniProtKB/Swiss-Prot:Q9D8Y0

    Gene LinkOut

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

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