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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
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:4525932-4535452 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 2.61 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    313 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 Chr7:4525932-4535487 (-)
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
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    DNAAF3, dynein axonemal assembly factor 3
  • 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
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
less
  • Phenotype Summary
    16 phenotypes from 2 alleles in 2 genetic backgrounds
    17 images
    10 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.
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
less
  • All GO Annotations
    18
  • GO References
    5
Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    724
  • Tissues
    14
  • cDNA Data
    7
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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
    Molecular
    Reagents
    less
    • All nucleic 8
      cDNA 7
      Primer pair 1

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:5442114
    References
    more
    • Summaries
      All 32
      Developmental Gene Expression 2
      Diseases 1
      Gene Ontology 5
      Phenotypes 10
    • 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:354218 Chen D, et al., A novel homozygous mutation in the DNAAF3 gene leads to severe asthenozoospermia and teratospermia. J Cell Mol Med. 2024 Sep;28(18):e70092
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    12/10/2024
    MGI 6.24     		The Jackson Laboratory