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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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See Cfap47 in Genome Data Viewer
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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