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    Efhb EF hand domain family, member B [ Mus musculus (house mouse) ]

    Gene ID: 211482, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Efhbprovided by MGI
    Official Full Name
    EF hand domain family, member Bprovided by MGI
    Primary source
    MGI:MGI:3045296
    See related
    Ensembl:ENSMUSG00000023931 AllianceGenome:MGI:3045296
    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
    4921525D22Rik
    Summary
    Predicted to enable calcium ion sensor activity. Predicted to be involved in negative regulation of protein binding activity; regulation of calcineurin-NFAT signaling cascade; and regulation of store-operated calcium entry. Predicted to be located in cytoplasm. Is expressed in several structures, including brain; olfactory epithelium; and testis. Orthologous to human EFHB (EF-hand domain family member B). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis adult (RPKM 6.8) and whole brain E14.5 (RPKM 0.2) See more
    Orthologs
    human all
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    Genomic context

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    See Efhb in Genome Data Viewer
    Location:
    17 C; 17 27.78 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (53705077..53770362, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (53398044..53463334, complement)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 29770 Neighboring gene STARR-seq mESC enhancer starr_42828 Neighboring gene DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene Neighboring gene predicted gene, 51426 Neighboring gene STARR-seq mESC enhancer starr_42829 Neighboring gene tumor protein, translationally-controlled, pseudogene 7 Neighboring gene STARR-seq mESC enhancer starr_42830 Neighboring gene RAB5A, member RAS oncogene family Neighboring gene protein phosphatase 2C-like domain containing 1

    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. Age and gender-dependent alternative splicing of P/Q-type calcium channel EF-hand. Chang SY, et al. Neuroscience, 2007 Mar 30. PMID 17291689, Free PMC Article
    2. Gene content of the 750-kb critical region for mouse embryonic ectoderm lethal tcl-w5. Abe K, et al. Mamm Genome, 2004 Apr. PMID 15112104
    3. A global genomic transcriptional code associated with CNS-expressed genes. Bailey PJ, et al. Exp Cell Res, 2006 Oct 1. PMID 16919269
    4. Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Hansen GM, et al. Genome Res, 2008 Oct. PMID 18799693, Free PMC Article
    5. Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Zambrowicz BP, et al. Proc Natl Acad Sci U S A, 2003 Nov 25. PMID 14610273, Free PMC Article

    See all (14) 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 (1) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables calcium ion sensor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of calcineurin-NFAT signaling cascade ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of store-operated calcium entry ISO
    Inferred from Sequence Orthology
    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 cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    EF-hand domain-containing family member B
    Names
    cilia- and flagella-associated protein 21

    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_172497.3 → NP_766085.2  EF-hand domain-containing family member B

      See identical proteins and their annotated locations for NP_766085.2

      Status: VALIDATED

      Source sequence(s)
      AK029550, BC132103
      Consensus CDS
      CCDS37652.1
      UniProtKB/Swiss-Prot
      A2RSG9, Q8CDU5
      Related
      ENSMUSP00000024725.5, ENSMUST00000024725.5
      Conserved Domains (2) summary
      cd00051
      Location:586 → 646
      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:586 → 646
      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_000083.7 Reference GRCm39 C57BL/6J

      Range
      53705077..53770362 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011246352.3 → XP_011244654.1  EF-hand domain-containing family member B isoform X2

      See identical proteins and their annotated locations for XP_011244654.1

      Conserved Domains (1) summary
      pfam13499
      Location:166 → 229
      EF-hand_7; EF-hand domain pair

    2. XM_011246351.3 → XP_011244653.1  EF-hand domain-containing family member B isoform X2

      See identical proteins and their annotated locations for XP_011244653.1

      Conserved Domains (1) summary
      pfam13499
      Location:166 → 229
      EF-hand_7; EF-hand domain pair

    3. XM_017317379.2 → XP_017172868.1  EF-hand domain-containing family member B isoform X3

      Conserved Domains (1) summary
      pfam13499
      Location:103 → 166
      EF-hand_7; EF-hand domain pair

    4. XM_006523983.4 → XP_006524046.1  EF-hand domain-containing family member B isoform X1

      Conserved Domains (1) summary
      pfam13499
      Location:583 → 638
      EF-hand_7; EF-hand domain pair

    RNA

    1. XR_003952101.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8CDU5.2 GenPept UniProtKB/Swiss-Prot:Q8CDU5

    Gene LinkOut

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

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