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    Cfap47 cilia and flagella associated protein 47 [ Mus musculus (house mouse) ]

    Gene ID: 636104, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Cfap47provided by MGI
    Official Full Name
    cilia and flagella associated protein 47provided by MGI
    Primary source
    MGI:MGI:3781475
    See related
    Ensembl:ENSMUSG00000073077 AllianceGenome:MGI:3781475
    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
    Chdc2; Gm3297; Gm7173; Gm8787; Gm16462; 100041373
    Summary
    Used to study male infertility. Human ortholog(s) of this gene implicated in X-linked spermatogenic failure 3. Orthologous to human CFAP47 (cilia and flagella associated protein 47). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    human all
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    Genomic context

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    Location:
    X B; X 38.37 cM
    Exon count:
    65
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (78310164..78560957, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (79266558..79517351, complement)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene ribosomal protein S24, pseudogene 3 Neighboring gene nucleoplasmin 3 pseudogene Neighboring gene STARR-seq mESC enhancer starr_47436 Neighboring gene STARR-seq mESC enhancer starr_47437 Neighboring gene STARR-seq mESC enhancer starr_47438 Neighboring gene STARR-seq mESC enhancer starr_47439 Neighboring gene STARR-seq mESC enhancer starr_47441 Neighboring gene predicted gene, 17817 Neighboring gene MAGE family member B16 Neighboring gene hepatoma-derived growth factor pseudogene

    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. Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility. Liu C, et al. Am J Hum Genet, 2021 Feb 4. PMID 33472045, Free PMC Article
    2. Cracking the egg: molecular dynamics and evolutionary aspects of the transition from the fully grown oocyte to embryo. Evsikov AV, et al. Genes Dev, 2006 Oct 1. PMID 17015433, Free PMC Article
    3. The Vertebrate Genome Annotation browser 10 years on. Harrow JL, et al. Nucleic Acids Res, 2014 Jan. PMID 24316575, Free PMC Article
    4. Genome-wide expression profiling of mid-gestation placenta and embryo using a 15,000 mouse developmental cDNA microarray. Tanaka TS, et al. Proc Natl Acad Sci U S A, 2000 Aug 1. PMID 10922068, Free PMC Article
    5. A conditional knockout resource for the genome-wide study of mouse gene function. Skarnes WC, et al. Nature, 2011 Jun 15. PMID 21677750, Free PMC Article

    See all (7) 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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sperm axoneme assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sperm axoneme assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sperm axoneme assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in motile cilium IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in sperm connecting piece IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in sperm connecting piece ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    cilia and flagella-associated protein 47
    Names
    calponin homology domain containing 2

    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_001368718.2 → NP_001355647.2  cilia and flagella-associated protein 47

      Status: VALIDATED

      Source sequence(s)
      AL807760, AL844174
      Consensus CDS
      CCDS90732.1
      UniProtKB/Swiss-Prot
      A0A0G2JEB6
      Related
      ENSMUSP00000142707.3, ENSMUST00000197180.6
      Conserved Domains (1) summary
      pfam00307
      Location:1731 → 1852
      CH; Calponin homology (CH) domain

    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
      78310164..78560957 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030251473.1 → XP_030107333.1  cilia and flagella-associated protein 47 isoform X1

      Conserved Domains (1) summary
      pfam00307
      Location:907 → 1028
      CH; Calponin homology (CH) domain

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001099307.1: Suppressed sequence

      Description
      NM_001099307.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.

    2. NM_001099310.1: Suppressed sequence

      Description
      NM_001099310.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0A0G2JEB6.2 GenPept UniProtKB/Swiss-Prot:A0A0G2JEB6

    Gene LinkOut

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

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