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    Dnaaf5 dynein, axonemal assembly factor 5 [ Mus musculus (house mouse) ]

    Gene ID: 433956, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Dnaaf5provided by MGI
    Official Full Name
    dynein, axonemal assembly factor 5provided by MGI
    Primary source
    MGI:MGI:3616079
    See related
    Ensembl:ENSMUSG00000025857 AllianceGenome:MGI:3616079
    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
    Heatr2
    Summary
    Predicted to enable dynein intermediate chain binding activity. Predicted to be involved in cilium movement; inner dynein arm assembly; and outer dynein arm assembly. Predicted to act upstream of or within cell projection organization. Located in cytoplasm. Is expressed in several structures, including genitourinary system; heart; liver; lung; and spleen. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 18. Orthologous to human DNAAF5 (dynein axonemal assembly factor 5). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 20.8), ovary adult (RPKM 20.2) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Dnaaf5 in Genome Data Viewer
    Location:
    5 G2; 5 78.02 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (139135888..139172265)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (139150133..139186510)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 38726 Neighboring gene RIKEN cDNA 6330403L08 gene Neighboring gene STARR-seq mESC enhancer starr_14679 Neighboring gene platelet derived growth factor, alpha Neighboring gene protein kinase, cAMP dependent regulatory, type I beta Neighboring gene STARR-positive B cell enhancer ABC_E1695 Neighboring gene STARR-seq mESC enhancer starr_14685 Neighboring gene STARR-positive B cell enhancer ABC_E10360 Neighboring gene STARR-seq mESC enhancer starr_14686 Neighboring gene STARR-seq mESC enhancer starr_14687 Neighboring gene Sad1 and UNC84 domain containing 1 Neighboring gene golgi to ER traffic protein 4

    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. HEATR2 plays a conserved role in assembly of the ciliary motile apparatus. Diggle CP, et al. PLoS Genet, 2014 Sep. PMID 25232951, Free PMC Article
    2. A null allele of Dnaaf2 displays embryonic lethality and mimics human ciliary dyskinesia. Cheong A, et al. Hum Mol Genet, 2019 Aug 15. PMID 31107948, Free PMC Article
    3. USP10 deubiquitinates Tau, mediating its aggregation. Wei Z, et al. Cell Death Dis, 2022 Aug 20. PMID 35987808, Free PMC Article
    4. Functional genomic landscape of cancer-intrinsic evasion of killing by T cells. Lawson KA, et al. Nature, 2020 Oct. PMID 32968282, Free PMC Article
    5. EUCOMM--the European conditional mouse mutagenesis program. Friedel RH, et al. Brief Funct Genomic Proteomic, 2007 Sep. PMID 17967808

    See all (16) 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

    Clone Names

    • MGC60818

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables dynein intermediate chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables dynein intermediate chain binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within cell projection organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cilium movement IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium movement ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in inner dynein arm assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in inner dynein arm assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in outer dynein arm assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in outer dynein arm assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    NOT located_in motile cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    dynein axonemal assembly factor 5
    Names
    HEAT repeat-containing protein 2
    dynein assembly factor 5, axonemal

    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_001081265.2 → NP_001074734.1  dynein axonemal assembly factor 5 isoform 1

      See identical proteins and their annotated locations for NP_001074734.1

      Status: VALIDATED

      Source sequence(s)
      AC125065
      Consensus CDS
      CCDS39349.1
      UniProtKB/Swiss-Prot
      B9EJR8
      Related
      ENSMUSP00000026975.7, ENSMUST00000026975.11
      Conserved Domains (2) summary
      pfam13830
      Location:41 → 198
      DUF4192; Domain of unknown function (DUF4192)
      sd00044
      Location:165 → 193
      HEAT; HEAT repeat [structural motif]

    2. NM_001363485.1 → NP_001350414.1  dynein axonemal assembly factor 5 isoform 2

      Status: VALIDATED

      Source sequence(s)
      BC158066, BG228650, CK627764
      Consensus CDS
      CCDS90005.1
      UniProtKB/TrEMBL
      B2RY24
      Related
      ENSMUSP00000142924.2, ENSMUST00000196441.2
      Conserved Domains (1) summary
      sd00044
      Location:405 → 433
      HEAT; HEAT repeat [structural motif]

    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_000071.7 Reference GRCm39 C57BL/6J

      Range
      139135888..139172265
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_003955669.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    B9EJR8.1 GenPept UniProtKB/Swiss-Prot:B9EJR8

    Gene LinkOut

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

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