The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia-18, a disorder characterized by abnormalities of motile cilia. Alternatively spliced transcript variants have been found for this gene. [provid... See more...

Aliases for DNAAF5 Gene

Aliases for DNAAF5 Gene

  • Dynein Axonemal Assembly Factor 5 2 3 5
  • Dynein Assembly Factor 5, Axonemal 3 4
  • HEAT Repeat-Containing Protein 2 3 4
  • HEAT Repeat Containing 2 2 3
  • CILD18 2 3
  • HEATR2 3 4
  • Dynein, Axonemal, Assembly Factor 5 2
  • Dynein (Axonemal) Assembly Factor 5 2
  • FLJ20397 2
  • FLJ31671 2
  • FLJ39381 2
  • FLJ25564 2
  • DNAAF5 5

External Ids for DNAAF5 Gene

Previous HGNC Symbols for DNAAF5 Gene

  • HEATR2

Summaries for DNAAF5 Gene

Entrez Gene Summary for DNAAF5 Gene

  • The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia-18, a disorder characterized by abnormalities of motile cilia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]

GeneCards Summary for DNAAF5 Gene

DNAAF5 (Dynein Axonemal Assembly Factor 5) is a Protein Coding gene. Diseases associated with DNAAF5 include Ciliary Dyskinesia, Primary, 18 and Primary Ciliary Dyskinesia. Gene Ontology (GO) annotations related to this gene include binding and dynein intermediate chain binding.

UniProtKB/Swiss-Prot Summary for DNAAF5 Gene

  • Cytoplasmic protein involved in the delivery of the dynein machinery to the motile cilium. It is required for the assembly of the axonemal dynein inner and outer arms, two structures attached to the peripheral outer doublet A microtubule of the axoneme, that play a crucial role in cilium motility.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DNAAF5 Gene

Genomics for DNAAF5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DNAAF5 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DNAAF5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DNAAF5

Genomic Locations for DNAAF5 Gene

Genomic Locations for DNAAF5 Gene
chr7:726,692-786,478
(GRCh38/hg38)
Size:
59,787 bases
Orientation:
Plus strand
chr7:766,338-829,190
(GRCh37/hg19)
Size:
62,853 bases
Orientation:
Plus strand

Genomic View for DNAAF5 Gene

Genes around DNAAF5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAAF5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAAF5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAAF5 Gene

Proteins for DNAAF5 Gene

  • Protein details for DNAAF5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86Y56-DAAF5_HUMAN
    Recommended name:
    Dynein assembly factor 5, axonemal
    Protein Accession:
    Q86Y56
    Secondary Accessions:
    • Q69YL1
    • Q96FI9
    • Q9NX75

    Protein attributes for DNAAF5 Gene

    Size:
    855 amino acids
    Molecular mass:
    93521 Da
    Quaternary structure:
    • Interacts with DNAI2; probably involved in outer arm dynein assembly.
    SequenceCaution:
    • Sequence=AAH10850.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for DNAAF5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNAAF5 Gene

Post-translational modifications for DNAAF5 Gene

  • Ubiquitination at Lys655 and Lys43
  • Modification sites at PhosphoSitePlus

Other Protein References for DNAAF5 Gene

No data available for DME Specific Peptides for DNAAF5 Gene

Domains & Families for DNAAF5 Gene

Gene Families for DNAAF5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for DNAAF5 Gene

InterPro:
Blocks:
  • HEAT repeat
ProtoNet:

Suggested Antigen Peptide Sequences for DNAAF5 Gene

GenScript: Design optimal peptide antigens:
  • HEAT repeat-containing protein 2 (HEAT2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86Y56

UniProtKB/Swiss-Prot:

DAAF5_HUMAN :
  • Belongs to the DNAAF5 family.
Family:
  • Belongs to the DNAAF5 family.
genes like me logo Genes that share domains with DNAAF5: view

Function for DNAAF5 Gene

Molecular function for DNAAF5 Gene

UniProtKB/Swiss-Prot Function:
Cytoplasmic protein involved in the delivery of the dynein machinery to the motile cilium. It is required for the assembly of the axonemal dynein inner and outer arms, two structures attached to the peripheral outer doublet A microtubule of the axoneme, that play a crucial role in cilium motility.

Phenotypes From GWAS Catalog for DNAAF5 Gene

Gene Ontology (GO) - Molecular Function for DNAAF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
GO:0045505 dynein intermediate chain binding IBA,IPI 25232951
genes like me logo Genes that share ontologies with DNAAF5: view
genes like me logo Genes that share phenotypes with DNAAF5: view

Human Phenotype Ontology for DNAAF5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAAF5

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for DNAAF5 Gene

Localization for DNAAF5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAAF5 Gene

Cytoplasm. Cytoplasmic granule. Note=Observed only in the cytoplasm of ciliated cells and absent from cilia. {ECO:0000269 PubMed:23040496, ECO:0000269 PubMed:25232951}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DNAAF5 gene
Compartment Confidence
cytosol 3
cytoskeleton 2
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DNAAF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA,IDA 23040496
GO:0031514 NOT motile cilium IDA 23040496
genes like me logo Genes that share ontologies with DNAAF5: view

Pathways & Interactions for DNAAF5 Gene

PathCards logo

SuperPathways for DNAAF5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DNAAF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003341 cilium movement IBA,IMP 23040496
GO:0030030 cell projection organization IEA --
GO:0036158 outer dynein arm assembly IBA,IMP 23040496
GO:0036159 inner dynein arm assembly IBA,IMP 25232951
genes like me logo Genes that share ontologies with DNAAF5: view

No data available for Pathways by source and SIGNOR curated interactions for DNAAF5 Gene

Drugs & Compounds for DNAAF5 Gene

No Compound Related Data Available

Transcripts for DNAAF5 Gene

mRNA/cDNA for DNAAF5 Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAAF5

Alternative Splicing Database (ASD) splice patterns (SP) for DNAAF5 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14a · 14b · 14c ^ 15a · 15b · 15c ^ 16 ^
SP1: - - - - -
SP2: -
SP3:
SP4:
SP5: - -
SP6: -
SP7:
SP8: - -
SP9: - - -
SP10: - -
SP11: -

ExUns: 17a · 17b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for DNAAF5 Gene

GeneLoc Exon Structure for
DNAAF5

Expression for DNAAF5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DNAAF5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Eye (Sensory Organs)

Protein differential expression in normal tissues from HIPED for DNAAF5 Gene

This gene is overexpressed in Bone (61.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DNAAF5 Gene



Protein tissue co-expression partners for DNAAF5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DNAAF5

mRNA Expression by UniProt/SwissProt for DNAAF5 Gene:

Q86Y56-DAAF5_HUMAN
Tissue specificity: Expressed in nasal epithelium and lung epithelium by ciliated cells (at protein level).

Evidence on tissue expression from TISSUES for DNAAF5 Gene

  • Nervous system(4.6)
  • Pancreas(4.1)
  • Lung(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DNAAF5 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • head
  • larynx
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • pharynx
  • sinus
  • skull
Thorax:
  • bronchus
  • lung
  • trachea
Abdomen:
  • spleen
Pelvis:
  • ovary
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • white blood cell
genes like me logo Genes that share expression patterns with DNAAF5: view

No data available for mRNA differential expression in normal tissues for DNAAF5 Gene

Orthologs for DNAAF5 Gene

This gene was present in the common ancestor of animals.

Orthologs for DNAAF5 Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
Mammalia HEATR2 30 31
  • 79.83 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Heatr2 30 31
  • 78.68 (n)
OneToOne
Dnaaf5 17
Cow
(Bos Taurus)
Mammalia HEATR2 30 31
  • 78.56 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Heatr2 30
  • 77.86 (n)
Oppossum
(Monodelphis domestica)
Mammalia HEATR2 31
  • 65 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia HEATR2 31
  • 60 (a)
OneToOne
Chicken
(Gallus gallus)
Aves HEATR2 30 31
  • 63 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia HEATR2 31
  • 58 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia heatr2 30
  • 60.35 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC100333660 30
  • 59.97 (n)
HEATR2 (1 of 2) 31
  • 50 (a)
OneToMany
HEATR2 (2 of 2) 31
  • 41 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG31320 30 31
  • 43.65 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002100 30
  • 43.06 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2730 31
  • 40 (a)
OneToOne
Species where no ortholog for DNAAF5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for DNAAF5 Gene

ENSEMBL:
Gene Tree for DNAAF5 (if available)
TreeFam:
Gene Tree for DNAAF5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DNAAF5: view image

Paralogs for DNAAF5 Gene

Pseudogenes.org Pseudogenes for DNAAF5 Gene

genes like me logo Genes that share paralogs with DNAAF5: view

No data available for Paralogs for DNAAF5 Gene

Variants for DNAAF5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DNAAF5 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
636361 Uncertain Significance: not provided 770,500(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
639538 Uncertain Significance: Primary ciliary dyskinesia 727,100(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
642296 Uncertain Significance: Primary ciliary dyskinesia 754,594(+) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
642605 Uncertain Significance: Primary ciliary dyskinesia 770,552(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
643736 Uncertain Significance: Primary ciliary dyskinesia 740,870(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for DNAAF5 Gene

Structural Variations from Database of Genomic Variants (DGV) for DNAAF5 Gene

Variant ID Type Subtype PubMed ID
dgv1060e201 CNV deletion 23290073
dgv3464n106 CNV deletion 24896259
esv1000798 CNV deletion 20482838
esv1080623 CNV insertion 17803354
esv1277926 CNV deletion 17803354
esv1364544 CNV deletion 17803354
esv1519018 CNV insertion 17803354
esv1616267 CNV insertion 17803354
esv2366209 CNV deletion 18987734
esv2624420 CNV insertion 19546169
esv2672641 CNV deletion 23128226
esv2676392 CNV deletion 23128226
esv2733654 CNV deletion 23290073
esv2733655 CNV deletion 23290073
esv2733656 CNV deletion 23290073
esv2733657 CNV deletion 23290073
esv2733658 CNV deletion 23290073
esv2733659 CNV deletion 23290073
esv2733660 CNV deletion 23290073
esv2733662 CNV deletion 23290073
esv2733663 CNV deletion 23290073
esv2733664 CNV deletion 23290073
esv2733665 CNV deletion 23290073
esv2733666 CNV deletion 23290073
esv2733667 CNV deletion 23290073
esv2743076 CNV deletion 23290073
esv3361 CNV loss 18987735
esv3540998 CNV deletion 23714750
esv3540999 CNV deletion 23714750
esv3611785 CNV loss 21293372
esv3611786 CNV loss 21293372
esv992419 CNV deletion 20482838
nsv1021075 CNV gain 25217958
nsv1073622 CNV deletion 25765185
nsv1074464 CNV deletion 25765185
nsv1124154 CNV deletion 24896259
nsv1129279 CNV insertion 24896259
nsv1133642 CNV deletion 24896259
nsv1145117 CNV deletion 24896259
nsv1149801 CNV deletion 26484159
nsv1152481 CNV insertion 26484159
nsv365954 CNV insertion 16902084
nsv366757 CNV deletion 16902084
nsv366851 CNV deletion 16902084
nsv950783 CNV deletion 24416366

Variation tolerance for DNAAF5 Gene

Residual Variation Intolerance Score: 78.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.15; 90.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DNAAF5 Gene

Human Gene Mutation Database (HGMD)
DNAAF5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNAAF5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAAF5 Gene

Disorders for DNAAF5 Gene

MalaCards: The human disease database

(7) MalaCards diseases for DNAAF5 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 18
  • cild18
primary ciliary dyskinesia
  • pcd
situs inversus
  • situs inversus viscerum
bronchiectasis
  • polynesian bronchiectasis
kartagener syndrome
  • kartagener's syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DAAF5_HUMAN
  • Ciliary dyskinesia, primary, 18 (CILD18) [MIM:614874]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269 PubMed:23040496, ECO:0000269 PubMed:25232951}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with DNAAF5: view

No data available for Genatlas for DNAAF5 Gene

Publications for DNAAF5 Gene

  1. HEATR2 plays a conserved role in assembly of the ciliary motile apparatus. (PMID: 25232951) Diggle CP … Mill P (PLoS genetics 2014) 2 3 4
  2. Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. (PMID: 23040496) Horani A … Ferkol TW (American journal of human genetics 2012) 2 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. LMBR1L regulates lymphopoiesis through Wnt/β-catenin signaling. (PMID: 31073040) Choi JH … Beutler B (Science (New York, N.Y.) 2019) 3

Products for DNAAF5 Gene

  • Signalway Proteins for DNAAF5

Sources for DNAAF5 Gene