Free for academic non-profit institutions. Other users need a Commercial license

Aliases for DNAAF3 Gene

Aliases for DNAAF3 Gene

  • Dynein (Axonemal) Assembly Factor 3 2 3
  • Dynein, Axonemal, Assembly Factor 3 2 3 5
  • C19orf51 3 4
  • Chromosome 19 Open Reading Frame 51 2
  • Ciliary Dyskinesia, Primary 2 2
  • UPF0470 Protein C19orf51 3
  • CILD2 3
  • DAB1 3
  • PF22 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 kartagener syndrome. 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

Regulatory Elements for DNAAF3 Gene

Enhancers for DNAAF3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DNAAF3 on UCSC Golden Path with GeneCards custom track

Promoters for DNAAF3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DNAAF3 on UCSC Golden Path with GeneCards custom track

Genomic Location for DNAAF3 Gene

Chromosome:
19
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

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:
    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 & Families for DNAAF3 Gene

Protein Domains for DNAAF3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DNAAF3 Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families 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.
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

Animal Model Products

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
Jensen Localization Image for DNAAF3 Gene COMPARTMENTS Subcellular localization image for DNAAF3 gene
Compartment Confidence
mitochondrion 3
cytosol 2
nucleus 2
cytoskeleton 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for DNAAF3 Gene

Pathways & Interactions for DNAAF3 Gene

SuperPathways for DNAAF3 Gene

No Data Available

Interacting Proteins for DNAAF3 Gene

Gene Ontology (GO) - Biological Process for DNAAF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

Unigene Clusters for DNAAF3 Gene

Dynein, axonemal, assembly factor 3:
Representative Sequences:

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 (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



SOURCE GeneReport for Unigene cluster for DNAAF3 Gene Hs.351582

genes like me logo Genes that share expression patterns with DNAAF3: view

Protein tissue co-expression partners for DNAAF3 Gene

Primer Products

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
dog
(Canis familiaris)
Mammalia DNAAF3 35
  • 83.16 (n)
  • 81.95 (a)
-- 36
  • 81 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Dnaaf3 35
  • 75.64 (n)
  • 75.38 (a)
Dnaaf3 16
Dnaaf3 36
  • 68 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia DNAAF3 35
  • 98.52 (n)
  • 97.89 (a)
-- 36
  • 96 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Dnaaf3 35
  • 76.08 (n)
  • 76.34 (a)
cow
(Bos Taurus)
Mammalia DNAAF3 36
  • 77 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 53 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 49 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii LOC100536527 35
  • 50.59 (n)
  • 40.66 (a)
CABZ01055343.1 36
  • 37 (a)
ManyToMany
dnaaf3 36
  • 35 (a)
ManyToMany
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
VAR_055306 -
VAR_055307 -
VAR_055308 -
VAR_067300 Ciliary dyskinesia, primary, 2 (CILD2)
VAR_067301 -

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)

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

MalaCards: The human disease database

(8) MalaCards diseases for DNAAF3 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

- 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 mutations affecting the gene represented in this entry.

Relevant External Links for DNAAF3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 H.M. … Mitchell D.R. (Nat. Genet. 2012) 2 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. (PMID: 26673895) KA+rlA+ K. … GAPrlich D. (Elife 2015) 3
  4. 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
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3

Products for DNAAF3 Gene

Sources for DNAAF3 Gene

Content