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

Gene ID: 74405, updated on 2-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 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

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