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Dnaaf5 Gene Detail
Summary
  • Symbol
    Dnaaf5
  • Name
    dynein, axonemal assembly factor 5
  • Synonyms
    Heatr2
  • Feature Type
    protein coding gene
  • IDs
    MGI:3616079
    NCBI Gene: 433956
Location & Maps
more
  • Sequence Map
    Chr5:139150223-139186510 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      36288 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 78.02 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    DNAAF5, dynein (axonemal) assembly factor 5
  • Vertebrate Orthologs
    9
  • Human Ortholog
    DNAAF5, dynein (axonemal) assembly factor 5
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CILD18, HEATR2
  • Links
    NCBI Gene ID: 54919
    neXtProt AC: NX_Q86Y56

  • Chr Location
    7p22.3; chr7:726701-786479 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human DNAAF5 associations

Human Disease Mouse Models
       Ciliary Dyskinesia, Primary, 18; CILD18   OMIM: 614874
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    8 phenotype references
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000025148 VEGA Gene Model | MGI Sequence Detail 36288 C57BL/6J ±  kb
transcript OTTMUST00000061868 VEGA | MGI Sequence Detail 3450 Not Applicable  
polypeptide OTTMUSP00000030439 VEGA | MGI Sequence Detail 853 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    141 from dbSNP Build 142
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000029536 dynein assembly factor 5, axonemal
  • InterPro Domains
    IPR011989 Armadillo-like helical
    IPR016024 Armadillo-type fold
    IPR032878 Vacuole morphology and inheritance protein 14, Fab1-binding region
Molecular
Reagents
less
  • All nucleic 34
    cDNA 34

    Microarray probesets 2
Other
Accession IDs
less
MGI:2141278
References
more
  • Summaries
    All 30
    Gene Ontology 4
    Phenotypes 8
  • Earliest
    J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
  • Latest
    J:215975 Diggle CP, et al., HEATR2 plays a conserved role in assembly of the ciliary motile apparatus. PLoS Genet. 2014 Sep;10(9):e1004577

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/15/2016
MGI 6.04
The Jackson Laboratory