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    Efhc2 EF-hand domain (C-terminal) containing 2 [ Mus musculus (house mouse) ]

    Gene ID: 74405, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Efhc2provided by MGI
    Official Full Name
    EF-hand domain (C-terminal) containing 2provided by MGI
    Primary source
    MGI:MGI:1921655
    See related
    Ensembl:ENSMUSG00000025038 AllianceGenome:MGI:1921655
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    mRib72-2; 4933407D04Rik
    Summary
    Involved in flagellated sperm motility. Acts upstream of or within cellular response to leukemia inhibitory factor. Is active in axonemal A tubule inner sheath and sperm flagellum. Orthologous to human EFHC2 (EF-hand domain containing 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis adult (RPKM 2.7), placenta adult (RPKM 0.8) and 6 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Efhc2 in Genome Data Viewer
    Location:
    X A1.2; X 12.34 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (16998288..17186291, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (17132049..17320049, complement)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_46820 Neighboring gene Norrie disease (pseudoglioma) (human) Neighboring gene STARR-seq mESC enhancer starr_46821 Neighboring gene STARR-seq mESC enhancer starr_46822 Neighboring gene predicted gene 4203 Neighboring gene predicted gene, 35105 Neighboring gene TatD DNase domain containing 2 pseudogene Neighboring gene predicted gene, 22294 Neighboring gene predicted gene, 39497 Neighboring gene STARR-seq mESC enhancer starr_46824

    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. Structures and metal-ion-binding properties of the Ca2+-binding helix-loop-helix EF-hand motifs. Gifford JL, et al. Biochem J, 2007 Jul 15. PMID 17590154
    2. Tektin interactions and a model for molecular functions. Setter PW, et al. Exp Cell Res, 2006 Sep 10. PMID 16831421
    3. The mouse ortholog of EFHC1 implicated in juvenile myoclonic epilepsy is an axonemal protein widely conserved among organisms with motile cilia and flagella. Ikeda T, et al. FEBS Lett, 2005 Jan 31. PMID 15670853
    4. De novo protein identification in mammalian sperm using in situ cryoelectron tomography and AlphaFold2 docking. Chen Z, et al. Cell, 2023 Nov 9. PMID 37865089, Free PMC Article
    5. In-cell structural insight into the stability of sperm microtubule doublet. Tai L, et al. Cell Discov, 2023 Nov 21. PMID 37989994, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC159328

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    acts_upstream_of_or_within cellular response to leukemia inhibitory factor IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in flagellated sperm motility IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of neuron projection development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in axonemal A tubule inner sheath IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in axonemal microtubule ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in axonemal microtubule ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in ciliary basal body IEA
    Inferred from Electronic Annotation
    more info
    		  
    colocalizes_with microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in sperm flagellum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    EF-hand domain-containing family member C2

    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_028916.5 → NP_083192.2  EF-hand domain-containing family member C2

      See identical proteins and their annotated locations for NP_083192.2

      Status: VALIDATED

      Source sequence(s)
      AK016714, AK029501, BE956904, BX004977
      Consensus CDS
      CCDS40883.1
      UniProtKB/Swiss-Prot
      Q0VBF5, Q8CDV9, Q9D485
      UniProtKB/TrEMBL
      Q059K2
      Related
      ENSMUSP00000026014.8, ENSMUST00000026014.8
      Conserved Domains (2) summary
      smart00676
      Location:75 → 182
      DM10; Domains in hypothetical proteins in Drosophila, C. elegans and mammals. Occurs singly in some nucleoside diphosphate kinases
      pfam06565
      Location:103 → 135
      DUF1126; Repeat of unknown function (DUF1126)

    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_000086.8 Reference GRCm39 C57BL/6J

      Range
      16998288..17186291 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006527706.5 → XP_006527769.1  EF-hand domain-containing family member C2 isoform X1

      Conserved Domains (2) summary
      smart00676
      Location:42 → 149
      DM10; Domains in hypothetical proteins in Drosophila, C. elegans and mammals. Occurs singly in some nucleoside diphosphate kinases
      pfam06565
      Location:186 → 327
      DUF1126; DUF1126 PH-like domain

    2. XM_017318631.3 → XP_017174120.1  EF-hand domain-containing family member C2 isoform X2

      Conserved Domains (1) summary
      pfam06565
      Location:23 → 164
      DUF1126; DUF1126 PH-like domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D485.2 GenPept UniProtKB/Swiss-Prot:Q9D485

    Gene LinkOut

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

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