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] See more...

Aliases for DNAAF3 Gene

Aliases for DNAAF3 Gene

  • Dynein Axonemal Assembly Factor 3 2 3 5
  • Dynein Assembly Factor 3, Axonemal 3 4
  • C19orf51 3 4
  • PF22 2 3
  • PCD 2 3
  • Chromosome 19 Open Reading Frame 51 2
  • Dynein, Axonemal, Assembly Factor 3 2
  • Dynein (Axonemal) Assembly Factor 3 2
  • Ciliary Dyskinesia, Primary 2 2
  • UPF0470 Protein C19orf51 3
  • FLJ40069 2
  • FLJ36139 2
  • DNAAF3 5
  • CILD2 3
  • DAB1 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. An important paralog of this gene is ENSG00000267110.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DNAAF3 Gene

Genomics for DNAAF3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DNAAF3 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 DNAAF3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DNAAF3

Genomic Locations for DNAAF3 Gene

Latest Assembly
chr19:55,158,661-55,166,722
(GRCh38/hg38)
Size:
8,062 bases
Orientation:
Minus strand

Previous Assembly
chr19:55,670,029-55,678,090
(GRCh37/hg19 by Entrez Gene)
Size:
8,062 bases
Orientation:
Minus strand

chr19:55,670,031-55,678,090
(GRCh37/hg19 by Ensembl)
Size:
8,060 bases
Orientation:
Minus strand

Genomic View for DNAAF3 Gene

Genes around DNAAF3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAAF3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAAF3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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:
    59410 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC04177.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Alternative splice isoforms for DNAAF3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNAAF3 Gene

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 & Families for DNAAF3 Gene

Gene Families for DNAAF3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for DNAAF3 Gene

InterPro:

Suggested Antigen Peptide Sequences for DNAAF3 Gene

GenScript: Design optimal peptide antigens:
  • UPF0470 protein C19orf51 (CS051_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N9W5

UniProtKB/Swiss-Prot:

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

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 From GWAS Catalog for DNAAF3 Gene

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

Human Phenotype Ontology for DNAAF3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAAF3

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

Localization for DNAAF3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAAF3 Gene

Cytoplasm.

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 DNAAF3 gene
Compartment Confidence
cytoskeleton 2
mitochondrion 2
nucleus 2
plasma membrane 1
cytosol 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nuclear bodies (2)
See all subcellular structures

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

Pathways & Interactions for DNAAF3 Gene

PathCards logo

SuperPathways for DNAAF3 Gene

No Data Available

Interacting Proteins for DNAAF3 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000436975 Q8N9W5-DAAF3_HUMAN for DNAAF3 Gene via STRING IID

Gene Ontology (GO) - Biological Process for DNAAF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030030 cell projection organization IEA --
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

No data available for Pathways by source and SIGNOR curated interactions for DNAAF3 Gene

Drugs & Compounds for DNAAF3 Gene

No Compound Related Data Available

Transcripts for DNAAF3 Gene

mRNA/cDNA for DNAAF3 Gene

5 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAAF3

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

Expression for DNAAF3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DNAAF3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

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

This gene is overexpressed in Testis (x23.2), Heart - Left Ventricle (x7.1), and Fallopian Tube (x4.4).

Protein differential expression in normal tissues from HIPED for DNAAF3 Gene

This gene is overexpressed in Testis (34.1) and Esophagus (25.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DNAAF3 Gene



Protein tissue co-expression partners for DNAAF3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DNAAF3

SOURCE GeneReport for Unigene cluster for DNAAF3 Gene:

Hs.351582

Evidence on tissue expression from TISSUES for DNAAF3 Gene

  • Nervous system(4.2)
  • Pancreas(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DNAAF3 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 DNAAF3: view

Primer products for research

No data available for 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 DNAAF3 29
  • 98.52 (n)
-- 30
  • 96 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia DNAAF3 29
  • 83.16 (n)
-- 30
  • 81 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia DNAAF3 30
  • 77 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Dnaaf3 29
  • 76.08 (n)
Mouse
(Mus musculus)
Mammalia Dnaaf3 29 16 30
  • 75.64 (n)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 53 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 49 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii LOC100536527 29
  • 50.59 (n)
CABZ01055343.1 30
  • 37 (a)
ManyToMany
dnaaf3 30
  • 35 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007214 29
  • 46.51 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG17669 29 30
  • 46.42 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 40 (a)
OneToMany
Species where no ortholog for DNAAF3 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)
  • 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 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)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for DNAAF3: view image
Alliance of Genome Resources:
Additional Orthologs for DNAAF3

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DNAAF3 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
1001846 Uncertain Significance: Primary ciliary dyskinesia 55,165,874(-) G/C
NM_001256715.2(DNAAF3):c.212C>G (p.Pro71Arg)
MISSENSE_VARIANT,FIVE_PRIME_UTR
1002599 Uncertain Significance: Primary ciliary dyskinesia 55,162,128(-) G/A
NM_001256715.2(DNAAF3):c.480+5C>T
INTRON
1011965 Uncertain Significance: Primary ciliary dyskinesia 55,166,633(-) C/G
NM_178837.4(DNAAF3):c.16G>C (p.Asp6His)
MISSENSE
1031256 Pathogenic: Ciliary dyskinesia, primary, 2 55,160,766(-) C/A
NM_001256715.2(DNAAF3):c.922G>T (p.Glu308Ter)
NONSENSE
1033796 Pathogenic: Ciliary dyskinesia, primary, 2 55,159,608(-) C/G
NM_001256715.2(DNAAF3):c.1164-1G>C
SPLICE_ACCEPTOR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DNAAF3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DNAAF3 Gene

Variant ID Type Subtype PubMed ID
esv2718958 CNV deletion 23290073
esv2718959 CNV deletion 23290073

Variation tolerance for DNAAF3 Gene

Residual Variation Intolerance Score: 87.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.85; 89.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DNAAF3 Gene

Human Gene Mutation Database (HGMD)
DNAAF3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNAAF3
Leiden Open Variation Database (LOVD)
DNAAF3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAAF3 Gene

Disorders for DNAAF3 Gene

MalaCards: The human disease database

(9) MalaCards diseases for DNAAF3 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 2
  • cild2
primary ciliary dyskinesia
  • ciliary motility disorder
kartagener syndrome
  • kartagener's syndrome
ciliary dyskinesia, primary, 1
  • cild1
situs inversus
  • complete transposition
- elite association - COSMIC cancer census association via MalaCards

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 variants affecting the gene represented in this entry.

Additional Disease Information for DNAAF3

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

No data available for Genatlas for DNAAF3 Gene

Publications for DNAAF3 Gene

  1. Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. (PMID: 22387996) Mitchison HM … Mitchell DR (Nature genetics 2012) 2 3 4 72
  2. Primary Ciliary Dyskinesia (PMID: 20301301) Zariwala MA … Leigh MW (GeneReviews® 2007) 3 72
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. A locus for primary ciliary dyskinesia maps to chromosome 19q. (PMID: 10745040) Meeks M … Chung E (Journal of medical genetics 2000) 3 72
  5. Quality Control of ER Membrane Proteins by the RNF185/Membralin Ubiquitin Ligase Complex. (PMID: 32738194) van de Weijer ML … Carvalho P (Molecular cell 2020) 3

Products for DNAAF3 Gene

Sources for DNAAF3 Gene