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Aliases for DNAAF3 Gene

Aliases for DNAAF3 Gene

  • Dynein, Axonemal, Assembly Factor 3 2 3
  • C19orf51 3 4
  • CILD2 3 6
  • DAB1 3 6
  • PF22 3 6
  • Chromosome 19 Open Reading Frame 51 2
  • Dynein Assembly Factor 3, Axonemal 3
  • Ciliary Dyskinesia, Primary 2 2
  • UPF0470 Protein C19orf51 3
  • PCD 3

External Ids for DNAAF3 Gene

Previous HGNC Symbols for DNAAF3 Gene

  • C19orf51
  • CILD2

Previous GeneCards Identifiers for DNAAF3 Gene

  • GC19M055671

Summaries for DNAAF3 Gene

Entrez Gene Summary for DNAAF3 Gene

  • The protein encoded by this gene is required for the assembly of axonemal inner and outer dynein arms and plays a role in assembling dynein complexes for transport into cilia. Defects in this gene are a cause of primary ciliary dyskinesia type 2 (CILD2). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

GeneCards Summary for DNAAF3 Gene

DNAAF3 (Dynein, Axonemal, Assembly Factor 3) is a Protein Coding gene. Diseases associated with DNAAF3 include ciliary dyskinesia, primary, 2 and primary ciliary dyskinesia 2: dnaaf3-related primary ciliary dyskinesia. Among its related pathways are Tyrosine Kinases / Adaptors and Guidance Cues and Growth Cone Motility. An important paralog of this gene is ENSG00000267110.

UniProtKB/Swiss-Prot for DNAAF3 Gene

  • Required for the assembly of axonemal inner and outer dynein arms. Involved in preassembly of dyneins into complexes before their transport into cilia.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAAF3 Gene

Genomics for DNAAF3 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for DNAAF3 Gene

Start:
55,158,661 bp from pter
End:
55,166,722 bp from pter
Size:
8,062 bases
Orientation:
Minus strand

Genomic View for DNAAF3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DNAAF3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAAF3 Gene

No data available for Regulatory Elements for DNAAF3 Gene

Proteins for DNAAF3 Gene

  • Protein details for DNAAF3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N9W5-DAAF3_HUMAN
    Recommended name:
    Dynein assembly factor 3, axonemal
    Protein Accession:
    Q8N9W5
    Secondary Accessions:
    • A8MUY0
    • E3W9A1
    • E9PAX5
    • Q6P4F6
    • Q8N9W0
    • Q96AR2

    Protein attributes for DNAAF3 Gene

    Size:
    541 amino acids
    Molecular mass:
    59411 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC04177.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};

    Alternative splice isoforms for DNAAF3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNAAF3 Gene

Proteomics data for DNAAF3 Gene at MOPED

Post-translational modifications for DNAAF3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DNAAF3 Gene

Domains for DNAAF3 Gene

Protein Domains for DNAAF3 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q8N9W5

UniProtKB/Swiss-Prot:

DAAF3_HUMAN :
  • Q8N9W5
Family:
  • Belongs to the DNAAF3 family.
genes like me logo Genes that share domains with DNAAF3: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for DNAAF3 Gene

Function for DNAAF3 Gene

Molecular function for DNAAF3 Gene

UniProtKB/Swiss-Prot Function: Required for the assembly of axonemal inner and outer dynein arms. Involved in preassembly of dyneins into complexes before their transport into cilia.

Phenotypes for DNAAF3 Gene

GenomeRNAi human phenotypes for DNAAF3:
genes like me logo Genes that share phenotypes with DNAAF3: view

Animal Model Products

CRISPR Products

miRNA for DNAAF3 Gene

miRTarBase miRNAs that target DNAAF3

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DNAAF3

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targeting and HOMER Transcription for DNAAF3 Gene

Localization for DNAAF3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAAF3 Gene

Cytoplasm.

Gene Ontology (GO) - Cellular Components for DNAAF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with DNAAF3: view

No data available for Subcellular locations from COMPARTMENTS for DNAAF3 Gene

Pathways for DNAAF3 Gene

genes like me logo Genes that share pathways with DNAAF3: view

Pathways by source for DNAAF3 Gene

Interacting Proteins for DNAAF3 Gene

Gene Ontology (GO) - Biological Process for DNAAF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0044458 motile cilium assembly IMP 22387996
GO:0070286 axonemal dynein complex assembly IMP 22387996
genes like me logo Genes that share ontologies with DNAAF3: view

Transcripts for DNAAF3 Gene

Unigene Clusters for DNAAF3 Gene

Dynein, axonemal, assembly factor 3:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DNAAF3

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for DNAAF3
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DNAAF3 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2 ^ 3a · 3b · 3c · 3d · 3e · 3f ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e ^ 7 ^ 8 ^ 9a · 9b ·
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - - -
SP4: - - - - - - - -
SP5: - - - - - - -
SP6: - - - - - -
SP7: - - - - -
SP8: - - -
SP9:
SP10: -
SP11: -
SP12: - - -
SP13:
SP14: -

ExUns: 9c ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b
SP1: - -
SP2: - -
SP3: - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for DNAAF3 Gene

GeneLoc Exon Structure for
DNAAF3
ECgene alternative splicing isoforms for
DNAAF3

Expression for DNAAF3 Gene

mRNA expression in normal human tissues for DNAAF3 Gene

mRNA differential expression in normal tissues according to GTEx for DNAAF3 Gene

This gene is overexpressed in Testis (23.2), Heart - Left Ventricle (7.1), and Fallopian Tube (4.4).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for DNAAF3 Gene

SOURCE GeneReport for Unigene cluster for DNAAF3 Gene Hs.351582

genes like me logo Genes that share expressions with DNAAF3: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for DNAAF3 Gene

Orthologs for DNAAF3 Gene

This gene was present in the common ancestor of animals.

Orthologs for DNAAF3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 36
  • 96 (a)
OneToMany
DNAAF3 35
  • 98.52 (n)
  • 97.89 (a)
cow
(Bos Taurus)
Mammalia DNAAF3 36
  • 77 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 81 (a)
OneToMany
DNAAF3 35
  • 83.16 (n)
  • 81.95 (a)
mouse
(Mus musculus)
Mammalia Dnaaf3 35
  • 75.64 (n)
  • 75.38 (a)
Dnaaf3 16
Dnaaf3 36
  • 68 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 53 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Dnaaf3 35
  • 76.08 (n)
  • 76.34 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 49 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii CABZ01055343.1 36
  • 37 (a)
ManyToMany
dnaaf3 36
  • 35 (a)
ManyToMany
LOC100536527 35
  • 50.59 (n)
  • 40.66 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007214 35
  • 46.51 (n)
  • 34.11 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG17669 35
  • 46.42 (n)
  • 32.94 (a)
CG17669 36
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 40 (a)
OneToMany
Species with no ortholog for DNAAF3:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DNAAF3 Gene

ENSEMBL:
Gene Tree for DNAAF3 (if available)
TreeFam:
Gene Tree for DNAAF3 (if available)

Paralogs for DNAAF3 Gene

Paralogs for DNAAF3 Gene

genes like me logo Genes that share paralogs with DNAAF3: view

Variants for DNAAF3 Gene

Sequence variations from dbSNP and Humsavar for DNAAF3 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs6509927 -- 55,166,857(+) CAAAT(A/T)TCTGG upstream-variant-2KB
rs7255625 -- 55,167,320(+) TAAAT(C/G)AACTG upstream-variant-2KB
rs8102415 -- 55,168,561(+) aggca(G/T)gcgcc upstream-variant-2KB
rs8109629 -- 55,166,933(+) TGTTT(C/T)TTTGT upstream-variant-2KB
rs10424609 -- 55,167,538(+) ggcag(A/G)agagt upstream-variant-2KB

Relevant External Links for DNAAF3 Gene

HapMap Linkage Disequilibrium report
DNAAF3
Human Gene Mutation Database (HGMD)
DNAAF3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for DNAAF3 Gene

Disorders for DNAAF3 Gene

(1) OMIM Diseases for DNAAF3 Gene (614566)

UniProtKB/Swiss-Prot

DAAF3_HUMAN
  • Ciliary dyskinesia, primary, 2 (CILD2) [MIM:606763]: 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:22387996}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with DNAAF3: view

Publications for DNAAF3 Gene

  1. Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. (PMID: 22387996) Mitchison H.M. … Mitchell D.R. (Nat. Genet. 2012) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3
  4. Primary Ciliary Dyskinesia (PMID: 20301301) Pagon R.A. … Stephens K. ( 1993) 3
  5. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PMID: 21906983) Kim W. … Gygi S.P. (Mol. Cell 2011) 3

Products for DNAAF3 Gene

Sources for DNAAF3 Gene

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