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Dnah5 Gene Detail
Summary
  • Symbol
    Dnah5
  • Name
    dynein, axonemal, heavy chain 5
  • Synonyms
    b2b1134Clo, b2b1154Clo, b2b1537Clo, b2b1565Clo, Dnahc5, Mdnah5
  • Feature Type
    protein coding gene
  • IDs
    MGI:107718
    NCBI Gene: 110082
  • Gene Overview
    MyGene.info: DNAH5
Location & Maps
more
  • Sequence Map
    Chr15:28203752-28472045 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      268294 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 10.90 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    DNAH5, dynein axonemal heavy chain 5
  • Vertebrate Orthologs
    8
  • Human Ortholog
    DNAH5, dynein axonemal heavy chain 5
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CILD3, DNAHC5, HL1, KTGNR, PCD
  • Links
    NCBI Gene ID: 1767
    neXtProt AC: NX_Q8TE73

  • Chr Location
    5p15.2; chr5:13690328-14011759 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    4 with Dnah5 mouse models; 1 with human DNAH5 associations

Human Disease Mouse Models
       Ciliary Dyskinesia, Primary, 3; CILD3   OMIM: 608644 View 11 models
       Ciliary Dyskinesia, Primary, 23; CILD23   OMIM: 615451 View 1 model
Otitis Media, Susceptibility to   OMIM: 166760 View 1 model
Tetralogy of Fallot; TOF   OMIM: 187500 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    12 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    76 phenotypes from 15 alleles in 15 genetic backgrounds
    133 images
    19 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
    20
  • Chemically induced (ENU)
    13
  • Chemically induced (other)
    2
  • Gene trapped
    1
  • Targeted
    3
  • Transgenic
    1
  • Genomic Mutations
    2 involving Dnah5
  • Incidental Mutations
Mice homozygous for a disruption in this gene display postnatal lethality, hydrocephalus, respiratory infections, situs inversus and ciliary immotility.
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
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000026038 VEGA Gene Model | MGI Sequence Detail 268294 C57BL/6J ±  kb
transcript OTTMUST00000064272 VEGA | MGI Sequence Detail 15630 Not Applicable  
polypeptide OTTMUSP00000031890 VEGA | MGI Sequence Detail 4621 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    2096 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000006564 dynein heavy chain 5, axonemal
  • InterPro Domains
    IPR003593 AAA+ ATPase domain
    IPR011704 ATPase, dynein-related, AAA domain
    IPR026983 Dynein heavy chain
    IPR024743 Dynein heavy chain, coiled coil stalk
    IPR004273 Dynein heavy chain domain
    IPR013594 Dynein heavy chain, domain-1
    IPR013602 Dynein heavy chain, domain-2
    IPR024317 Dynein heavy chain, P-loop containing D4 domain
    IPR027417 P-loop containing nucleoside triphosphate hydrolase
Molecular
Reagents
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  • All nucleic 11
    cDNA 11

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-36294, MGI:2146141, MGI:5311155, MGI:5311349, MGI:5311351, MGI:5430340, MGI:5433314
References
more
  • Summaries
    All 44
    Developmental Gene Expression 6
    Diseases 3
    Gene Ontology 8
    Phenotypes 19
  • Earliest
    J:34934 Vaughan KT, et al., Multiple mouse chromosomal loci for dynein-based motility. Genomics. 1996 Aug 15;36(1):29-38
  • 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
08/17/2016
MGI 6.05
The Jackson Laboratory