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Aliases for DNAAF5 Gene

Aliases for DNAAF5 Gene

  • Dynein Axonemal Assembly Factor 5 2 3 5
  • HEAT Repeat-Containing Protein 2 3 4
  • HEAT Repeat Containing 2 2 3
  • HEATR2 3 4
  • Dynein, Axonemal, Assembly Factor 5 2
  • Dynein (Axonemal) Assembly Factor 5 2
  • Dynein Assembly Factor 5, Axonemal 3
  • CILD18 3

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. GO annotations related to this gene include binding and dynein intermediate chain binding.

UniProtKB/Swiss-Prot 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 Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAAF5 Gene

Genomics for DNAAF5 Gene

Regulatory Elements for DNAAF5 Gene

Enhancers for DNAAF5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F000770 1.1 Ensembl ENCODE 34.6 +44.8 44824 2.4 ATF1 KLF1 PKNOX1 ZNF121 ZNF316 ZFHX2 NFE2 TRIM24 CREM EGR2 DNAAF5 PRKAR1B GPR146 C7orf50 PRSS3P2 GC07M000740
GH07F000767 0.6 ENCODE 34.5 +42.0 42008 2.2 CTCF SIN3A ZBTB33 REST RAD21 DNAAF5 PRKAR1B GPR146 C7orf50 PRSS3P2 GC07M000740
GH07F000729 0.6 ENCODE 24.8 +5.0 4968 3.5 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF48 YY1 SLC30A9 FOS SP5 DNAAF5 PRKAR1B GC07P000738
GH07F000781 0.5 ENCODE 24.5 +55.1 55126 1.1 CTCF ZNF362 ESRRA ZNF687 TBX21 RAD21 NR2F2 YY1 RAD51 ZFHX2 DNAAF5 PRKAR1B GC07P000777 PIR31208 PIR46616
GH07F000748 0.6 ENCODE 23.6 +22.7 22673 1.1 ZNF146 SMARCA4 POLR2A ZMYM3 ZNF18 DNAAF5 PRKAR1B PDGFA HRAT92 LOC101926963 GC07M000740 PRSS3P2
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around DNAAF5 on UCSC Golden Path with GeneCards custom track

Promoters for DNAAF5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000620529 399 1801 HDGF CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 ZNF207

Genomic Location for DNAAF5 Gene

Chromosome:
7
Start:
726,701 bp from pter
End:
786,479 bp from pter
Size:
59,779 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=Translation N-terminally extended.; 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 Lys 43 and Lys 655
  • 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

Protein Domains for DNAAF5 Gene

Suggested Antigen Peptide Sequences for DNAAF5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86Y56

UniProtKB/Swiss-Prot:

DAAF5_HUMAN :
  • Belongs to the DNAAF5 family.
  • Contains 10 HEAT repeats.
Family:
  • Belongs to the DNAAF5 family.
Similarity:
  • Contains 10 HEAT repeats.
genes like me logo Genes that share domains with DNAAF5: view

No data available for Gene Families for DNAAF5 Gene

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.

Gene Ontology (GO) - Molecular Function for DNAAF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045505 dynein intermediate chain binding 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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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}.

Gene Ontology (GO) - Cellular Components for DNAAF5 Gene

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

No data available for Subcellular locations from COMPARTMENTS for DNAAF5 Gene

Pathways & Interactions for DNAAF5 Gene

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 IMP 23040496
GO:0030030 cell projection organization IEA --
GO:0036158 outer dynein arm assembly IMP 23040496
GO:0036159 inner dynein arm assembly 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

Transcripts for DNAAF5 Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
DNAAF5

Expression for DNAAF5 Gene

mRNA expression in normal human tissues for DNAAF5 Gene

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, PaxDb, MaxQB, and MOPED for DNAAF5 Gene



Protein tissue co-expression partners for DNAAF5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DNAAF5 Gene:

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).
genes like me logo Genes that share expression patterns with DNAAF5: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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 34 35
  • 79.83 (n)
mouse
(Mus musculus)
Mammalia Heatr2 34 35
  • 78.68 (n)
Dnaaf5 16
cow
(Bos Taurus)
Mammalia HEATR2 34 35
  • 78.56 (n)
rat
(Rattus norvegicus)
Mammalia Heatr2 34
  • 77.86 (n)
oppossum
(Monodelphis domestica)
Mammalia HEATR2 35
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HEATR2 35
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves HEATR2 34 35
  • 63 (n)
lizard
(Anolis carolinensis)
Reptilia HEATR2 35
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia heatr2 34
  • 60.35 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100333660 34
  • 59.97 (n)
HEATR2 (1 of 2) 35
  • 50 (a)
OneToMany
HEATR2 (2 of 2) 35
  • 41 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG31320 34 35
  • 43.65 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002100 34
  • 43.06 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2730 35
  • 40 (a)
OneToOne
Species where no ortholog for DNAAF5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

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 from dbSNP and Humsavar for DNAAF5 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs397514561 Ciliary dyskinesia, primary, 18 (CILD18) [MIM:614874], Pathogenic 780,097(+) GTTGC(C/T)GGTTC nc-transcript-variant, reference, missense
rs878855036 Pathogenic 780,066(+) ATCAG(-/AG)CAGTG nc-transcript-variant, reference, frameshift-variant
rs115058579 Likely benign 729,774(+) GATCC(A/G/T)TTTTG nc-transcript-variant, reference, missense
rs145254596 Likely benign 770,626(+) AGGTC(C/T)GGGCT intron-variant
rs146922072 Likely benign 754,809(+) GCAGC(C/T)GTGGT nc-transcript-variant, reference, synonymous-codon

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)

Relevant External Links 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

(5) MalaCards diseases for DNAAF5 Gene - From: OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 18
  • primary ciliary dyskinesia 18
primary ciliary dyskinesia
  • ciliary motility disorder
ciliary dyskinesia, primary, 1, with or without situs inversus
  • primary ciliary dyskinesia 1
kartagener syndrome
  • kartagener's syndrome
bronchiectasis
  • kartagener 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.

Relevant External Links for DNAAF5

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DNAAF5
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 C.P. … Mill P. (PLoS Genet. 2014) 2 3 4 64
  2. Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. (PMID: 23040496) Horani A. … Ferkol T.W. (Am. J. Hum. Genet. 2012) 2 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3 64

Products for DNAAF5 Gene

Sources for DNAAF5 Gene

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