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    efhc2 EF-hand domain (C-terminal) containing 2 [ Danio rerio (zebrafish) ]

    Gene ID: 567323, updated on 9-Dec-2024

    Summary

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    Official Symbol
    efhc2provided by ZNC
    Official Full Name
    EF-hand domain (C-terminal) containing 2provided by ZNC
    Primary source
    ZFIN:ZDB-GENE-031001-10
    See related
    Ensembl:ENSDARG00000004204 AllianceGenome:ZFIN:ZDB-GENE-031001-10
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    cb847; flj22843; zgc:152706
    Summary
    Predicted to enable calcium ion binding activity. Acts upstream of or within multi-ciliated epithelial cell differentiation and specification of pronephric distal tubule identity. Predicted to be located in axonemal microtubule. Predicted to colocalize with microtubule. Is expressed in several structures, including forerunner cell group; intermediate mesoderm; notochord; sensory system; and tail bud. Orthologous to human EFHC2 (EF-hand domain containing 2). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    human mouse all
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    Genomic context

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    See efhc2 in Genome Data Viewer
    Location:
    chromosome: 9
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 9 NC_007120.7 (33758720..33781851, complement)
    105 previous assembly GRCz10 (GCF_000002035.5) 9 NC_007120.6 (33949535..33972666, complement)

    Chromosome 9 - NC_007120.7Genomic Context describing neighboring genes Neighboring gene monoamine oxidase Neighboring gene norrin cystine knot growth factor NDP Neighboring gene FUN14 domain containing 1 Neighboring gene lysine (K)-specific demethylase 6A

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. A new EF-hand containing gene EFHC2 on Xp11.4: tentative evidence for association with juvenile myoclonic epilepsy. Gu W, et al. Epilepsy Res, 2005 Aug-Sep. PMID 16112844
    2. EF-hand domain containing 2 (Efhc2) is crucial for distal segmentation of pronephros in zebrafish. Barrodia P, et al. Cell Biosci, 2018. PMID 30349665, Free PMC Article
    3. RFX transcription factors are essential for hearing in mice. Elkon R, et al. Nat Commun, 2015 Oct 15. PMID 26469318, Free PMC Article
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Homology

    Clone Names

    • MGC152706

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within multi-ciliated epithelial cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of neuron projection development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within specification of pronephric distal tubule identity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in axonemal microtubule ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    colocalizes_with microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    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_001309817.1 → NP_001296746.1  EF-hand domain-containing family member C2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the protein.
      Source sequence(s)
      BX572627, EB931990
      UniProtKB/Swiss-Prot
      Q08CU1, Q32TF8
      UniProtKB/TrEMBL
      A0A8M1P7B7, B8A5Q4
      Related
      ENSDARP00000010992.7, ENSDART00000008737.9
      Conserved Domains (4) summary
      smart00676
      Location:75 → 178
      DM10; Domains in hypothetical proteins in Drosophila, C. elegans and mammals. Occurs singly in some nucleoside diphosphate kinases
      COG5126
      Location:553 → 691
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
      pfam06565
      Location:451 → 483
      DUF1126; Repeat of unknown function (DUF1126)
      cl08302
      Location:635 → 695
      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 ...

    RNA

    1. NR_132140.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site at an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BX572627, EB931990
      Related
      ENSDART00000142788.3

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007120.7 Reference GRCz11 Primary Assembly

      Range
      33758720..33781851 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q32TF8.2 GenPept UniProtKB/Swiss-Prot:Q32TF8

    Gene LinkOut

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