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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
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:139135978-139172265 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 78.02 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1031 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3616079
 protein coding gene Chr5:139135888-139172265 (+)
129S1/SvImJ MGP_129S1SvImJ_G0030276
 protein coding gene Chr5:144098534-144137513 (+)
A/J MGP_AJ_G0030245
 protein coding gene Chr5:138000886-138037891 (+)
AKR/J MGP_AKRJ_G0030177
 protein coding gene Chr5:142304585-142341591 (+)
BALB/cJ MGP_BALBcJ_G0030262
 protein coding gene Chr5:139246728-139283452 (+)
C3H/HeJ MGP_C3HHeJ_G0029973
 protein coding gene Chr5:143074009-143109908 (+)
C57BL/6NJ MGP_C57BL6NJ_G0030707
 protein coding gene Chr5:149415973-149454551 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0027925
 protein coding gene Chr5:131863609-131901827 (+)
CAST/EiJ MGP_CASTEiJ_G0029378
 protein coding gene Chr5:142486760-142523088 (+)
CBA/J MGP_CBAJ_G0029943
 protein coding gene Chr5:155575971-155616896 (+)
DBA/2J MGP_DBA2J_G0030093
 protein coding gene Chr5:137819128-137854750 (+)
FVB/NJ MGP_FVBNJ_G0030048
 protein coding gene Chr5:136915330-136952472 (+)
LP/J MGP_LPJ_G0030179
 protein coding gene Chr5:144722677-144758908 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0030079
 protein coding gene Chr5:158268900-158307207 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0030747
 protein coding gene Chr5:142112655-142149819 (+)
PWK/PhJ MGP_PWKPhJ_G0029093
 protein coding gene Chr5:136809224-136848071 (+)
SPRET/EiJ MGP_SPRETEiJ_G0028929
 protein coding gene Chr5:139796102-139836766 (+)
WSB/EiJ MGP_WSBEiJ_G0029452
 protein coding gene Chr5:142873435-142914909 (+)



Homology
more
  • Human Ortholog
    DNAAF5, dynein axonemal assembly factor 5
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    DNAAF5, dynein axonemal assembly factor 5
  • Synonyms
    CILD18, HEATR2
  • Links
    NCBI Gene ID: 54919
    neXtProt AC: NX_Q86Y56
    UniProt: Q86Y56

  • Chr Location
    7p22.3; chr7:726699-786475 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Dnaaf5 mouse models; 1 with human DNAAF5 associations

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 1 model
      
IDs
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
    25 phenotypes from 4 alleles in 5 genetic backgrounds
    12 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.
Homozygous KO is embryonic lethal. Homozygosity for the p.C498F mutation affects cilia motility and leads to male infertility, hydrocephaly and heterotaxia.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    17
  • GO References
    5
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 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
    723
  • Tissues
    14
  • cDNA Data
    35
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000025857 Ensembl Gene Model | MGI Sequence Detail 36288 C57BL/6J ±  kb
    transcript ENSMUST00000026975 Ensembl | MGI Sequence Detail 3450 Not Applicable  
    polypeptide ENSMUSP00000026975 Ensembl | MGI Sequence Detail 853 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 36
      cDNA 35
      Primer pair 1

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:2141278
    References
    more
    • Summaries
      All 36
      Developmental Gene Expression 1
      Diseases 1
      Gene Ontology 5
      Phenotypes 12
    • 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:342770 Horani A, et al., The effect of Dnaaf5 gene dosage on primary ciliary dyskinesia phenotypes. JCI Insight. 2023 Jun 8;8(11)
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory