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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
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:4522933-4532453 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 2.61 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    58 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3588207
protein coding gene Chr7:4522933-4532488 (-)
129S1/SvImJ MGP_129S1SvImJ_G0031549
protein coding gene Chr7:1443308-1452826 (-)
A/J MGP_AJ_G0031522
protein coding gene Chr7:1437776-1452467 (-)
AKR/J MGP_AKRJ_G0031451
protein coding gene Chr7:1515760-1529908 (-)
BALB/cJ MGP_BALBcJ_G0031530
protein coding gene Chr7:1504167-1518365 (-)
C3H/HeJ MGP_C3HHeJ_G0031252
protein coding gene Chr7:1482093-1491619 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031992
protein coding gene Chr7:1475721-1486039 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0029116
protein coding gene Chr7:1212121-1220794 (-)
CAST/EiJ MGP_CASTEiJ_G0030616
protein coding gene Chr7:1421137-1433630 (-)
CBA/J MGP_CBAJ_G0031210
protein coding gene Chr7:1671575-1683943 (-)
DBA/2J MGP_DBA2J_G0031369
protein coding gene Chr7:1405294-1415154 (-)
FVB/NJ MGP_FVBNJ_G0031321
protein coding gene Chr7:1388591-1397705 (-)
LP/J MGP_LPJ_G0031454
protein coding gene Chr7:1534549-1543815 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0031360
protein coding gene Chr7:1607739-1619148 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0032022
protein coding gene Chr7:1421971-1433127 (-)
PWK/PhJ MGP_PWKPhJ_G0030344
protein coding gene Chr7:1591976-1601605 (-)
SPRET/EiJ MGP_SPRETEiJ_G0030169
protein coding gene Chr7:1481210-1495933 (-)
WSB/EiJ MGP_WSBEiJ_G0030711
protein coding gene Chr7:1438753-1449471 (-)



Homology
more
  • 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
    UniProt: Q8N9W5

  • Chr Location
    19q13.42; chr19:55158661-55166722 (-)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
View 1 model
IDs
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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000055809 Ensembl Gene Model | MGI Sequence Detail 9521 C57BL/6J ±  kb
    transcript ENSMUST00000094897 Ensembl | MGI Sequence Detail 2224 Not Applicable  
    polypeptide ENSMUSP00000092498 Ensembl | MGI Sequence Detail 586 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      1 Sequence
    • InterPro Domains
      IPR027974 Domain of unknown function DUF4470
      IPR039304 Dynein assembly factor 3, axonemal
      IPR028235 Dynein assembly factor 3, C-terminal domain
    Molecular
    Reagents
    less
    • All nucleic 7
      cDNA 7

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:5442114
    References
    more
    • Summaries
      All 24
      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
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    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory