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Dnaaf3 Gene Detail
Summary
  • Symbol
    Dnaaf3
  • Name
    dynein, axonemal assembly factor 3
  • Synonyms
    6030429G01Rik, b2b1739Clo
  • Feature Type
    protein coding gene
  • IDs
    MGI:3588207
    NCBI Gene: 436022
Location & Maps
more
  • Genetic Map
    Chromosome 7, 2.61 cM
  • Mapping Data
    1 experiment
Homology
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  • Human Ortholog
    DNAAF3, dynein axonemal assembly factor 3
  • Vertebrate Orthologs
    8
  • Human Ortholog
    DNAAF3, dynein axonemal assembly factor 3
    Orthology source: HGNC, HomoloGene
  • Synonyms
    C19orf51, CILD2, DAB1, PCD, PF22
  • Links
    NCBI Gene ID: 352909
    neXtProt AC: NX_Q8N9W5

  • Chr Location
    19q13.4; chr19:55158661-55166722 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Dnaaf3 mouse models; 1 with human DNAAF3 associations

Human Disease Mouse Models
       Ciliary Dyskinesia, Primary, 2; CILD2   OMIM: 606763 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    14 phenotypes from 1 allele in 1 genetic background
    17 images
    6 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    5
  • Chemically induced (ENU)
    1
  • Gene trapped
    2
  • Targeted
    2
  • Incidental Mutations
Mice homozygous for an ENU-induced mutation exhibit situs inversus totalis and complex congenital heart disease associated with heterotaxy, abdominal organ situs anomalies and immotile respiratory cilia.
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
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  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000027090 VEGA Gene Model | MGI Sequence Detail 9521 C57BL/6J ±  kb
transcript OTTMUST00000066991 VEGA | MGI Sequence Detail 2224 Not Applicable  
polypeptide OTTMUSP00000033647 VEGA | MGI Sequence Detail 586 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    58 from dbSNP Build 142
Protein
Information
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  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000031878 dynein assembly factor 3, axonemal
  • InterPro Domains
    IPR027974 Domain of unknown function DUF4470
    IPR028235 Dynein assembly factor 3, C-terminal domain
Molecular
Reagents
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  • All nucleic 6
    cDNA 6

    Microarray probesets 2
Other
Accession IDs
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MGI:5442114
References
more
  • Summaries
    All 25
    Developmental Gene Expression 1
    Diseases 1
    Gene Ontology 3
    Phenotypes 6
  • Earliest
    J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
  • Latest
    J:222159 Li Y, et al., Global genetic analysis in mice unveils central role for cilia in congenital heart disease. Nature. 2015 May 28;521(7553):520-4

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
07/19/2016
MGI 6.04
The Jackson Laboratory