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

Gene ID: 211482, updated on 2-Nov-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. Involved in flagellated sperm motility. Is active in axonemal A tubule inner sheath and sperm flagellum. Is expressed in several structures, including brain; genitourinary system; hemolymphoid system gland; liver; and olfactory epithelium. Orthologous to human EFHB (EF-hand domain family member B). [provided by Alliance of Genome Resources, Nov 2024]
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 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. 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
  3. 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
  4. 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
  5. Structures of sperm flagellar doublet microtubules expand the genetic spectrum of male infertility. Zhou L, et al. Cell, 2023 Jun 22. PMID 37295417

See all (18) 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 calcium ion sensor activity ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in flagellated sperm motility IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of protein binding ISO
Inferred from Sequence Orthology
more info
  
involved_in negative regulation of protein binding ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of calcineurin-NFAT signaling cascade ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of calcineurin-NFAT signaling cascade ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of store-operated calcium entry ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of store-operated calcium entry ISS
Inferred from Sequence or Structural Similarity
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
  
is_active_in cellular_component ND
No biological Data available
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 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

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