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Aliases for DNAAF2 Gene

Aliases for DNAAF2 Gene

  • Dynein Axonemal Assembly Factor 2 2 3 5
  • Dynein Assembly Factor 2, Axonemal 3 4
  • C14orf104 3 4
  • Kintoun 2 3
  • KTU 3 4
  • Chromosome 14 Open Reading Frame 104 2
  • Dynein, Axonemal, Assembly Factor 2 2
  • Dynein (Axonemal) Assembly Factor 2 2
  • Protein Kintoun 3
  • CILD10 3
  • PF13 3

External Ids for DNAAF2 Gene

Previous HGNC Symbols for DNAAF2 Gene

  • C14orf104

Previous GeneCards Identifiers for DNAAF2 Gene

  • GC14M050092

Summaries for DNAAF2 Gene

Entrez Gene Summary for DNAAF2 Gene

  • This gene encodes a highly conserved protein involved in the preassembly of dynein arm complexes which power cilia. These complexes are found in some cilia and are assembled in the cytoplasm prior to transport for cilia formation. Mutations in this gene have been associated with primary ciliary dyskinesia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]

GeneCards Summary for DNAAF2 Gene

DNAAF2 (Dynein Axonemal Assembly Factor 2) is a Protein Coding gene. Diseases associated with DNAAF2 include Ciliary Dyskinesia, Primary, 10 and Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus.

UniProtKB/Swiss-Prot for DNAAF2 Gene

  • Required for cytoplasmic pre-assembly of axonemal dyneins, thereby playing a central role in motility in cilia and flagella. Involved in pre-assembly of dynein arm complexes in the cytoplasm before intraflagellar transport loads them for the ciliary compartment.

Gene Wiki entry for DNAAF2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAAF2 Gene

Genomics for DNAAF2 Gene

Regulatory Elements for DNAAF2 Gene

Enhancers for DNAAF2 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
GH14G049618 1.7 FANTOM5 ENCODE dbSUPER 15.1 +13.0 13045 6.4 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 RPL36AL LRR1 DNAAF2 RNU6ATAC30P VCPKMT RHOQP1 KLHDC2 NEMF ARF6 RPS29
GH14G050080 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.7 -449.9 -449899 8.9 HDGF PKNOX1 WRNIP1 TCF12 ELK1 CBX5 ZNF143 ZNF207 FOS JUNB VCPKMT RNU6-189P DNAAF2 ATL1 ATP5S LINC01588 ARF6 KLHDC2 NEMF SOS2
GH14G049860 1.8 FANTOM5 ENCODE dbSUPER 2.5 -227.1 -227065 4.6 MLX CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC VCPKMT KLHDC1 MAP4K5 POLE2 LINC01588 KLHDC2 RHOQP1 RPS29 LRR1 ARF6
GH14G049969 2 FANTOM5 Ensembl ENCODE dbSUPER 2.2 -341.6 -341574 15.5 PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF766 ZNF207 VCPKMT LINC01588 KLHDC1 RNU6-189P RPL36AL ARF6 NEMF DNAAF2 ATP5S RPS29
GH14G050095 1.3 FANTOM5 Ensembl ENCODE dbSUPER 1.6 -461.3 -461296 2.3 ARID3A SCRT2 SPI1 VCPKMT RNU6-189P SOS2 ATP5S RPL36AL ARF6 LINC01588 NEMF DNAAF2 LINC01599
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DNAAF2 on UCSC Golden Path with GeneCards custom track

Promoters for DNAAF2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000068038 1230 4001 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF143

Genomic Location for DNAAF2 Gene

Chromosome:
14
Start:
49,625,174 bp from pter
End:
49,635,230 bp from pter
Size:
10,057 bases
Orientation:
Minus strand

Genomic View for DNAAF2 Gene

Genes around DNAAF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAAF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAAF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAAF2 Gene

Proteins for DNAAF2 Gene

  • Protein details for DNAAF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NVR5-KTU_HUMAN
    Recommended name:
    Protein kintoun
    Protein Accession:
    Q9NVR5
    Secondary Accessions:
    • B9WS54
    • C0JAP7
    • Q86TR1
    • Q86TY8
    • Q969Z5

    Protein attributes for DNAAF2 Gene

    Size:
    837 amino acids
    Molecular mass:
    91114 Da
    Quaternary structure:
    • Interacts with DNAI2 and HSPA1A (By similarity). Interacts with DYX1C1 (PubMed:23872636).
    SequenceCaution:
    • Sequence=BAA91684.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAD66572.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for DNAAF2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNAAF2 Gene

Post-translational modifications for DNAAF2 Gene

  • Ubiquitination at Lys558
  • Modification sites at PhosphoSitePlus

Other Protein References for DNAAF2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DNAAF2 Gene

Domains & Families for DNAAF2 Gene

Protein Domains for DNAAF2 Gene

Suggested Antigen Peptide Sequences for DNAAF2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NVR5

UniProtKB/Swiss-Prot:

KTU_HUMAN :
  • Belongs to the PIH1 family. Kintoun subfamily.
Family:
  • Belongs to the PIH1 family. Kintoun subfamily.
genes like me logo Genes that share domains with DNAAF2: view

No data available for Gene Families for DNAAF2 Gene

Function for DNAAF2 Gene

Molecular function for DNAAF2 Gene

UniProtKB/Swiss-Prot Function:
Required for cytoplasmic pre-assembly of axonemal dyneins, thereby playing a central role in motility in cilia and flagella. Involved in pre-assembly of dynein arm complexes in the cytoplasm before intraflagellar transport loads them for the ciliary compartment.

Gene Ontology (GO) - Molecular Function for DNAAF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23872636
genes like me logo Genes that share ontologies with DNAAF2: view
genes like me logo Genes that share phenotypes with DNAAF2: view

Human Phenotype Ontology for DNAAF2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DNAAF2 Gene

MGI Knock Outs for DNAAF2:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DNAAF2 Gene

Localization for DNAAF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAAF2 Gene

Cytoplasm. Note=Localizes in the apical cytoplasm around the gamma-tubulin-positive pericentriolar region, not in the cilia. {ECO:0000255 HAMAP-Rule:MF_03069}.

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 DNAAF2 gene
Compartment Confidence
cytosol 5
nucleus 3
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for DNAAF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IEA 19052621
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with DNAAF2: view

Pathways & Interactions for DNAAF2 Gene

SuperPathways for DNAAF2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DNAAF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010033 response to organic substance IEA --
GO:0032526 response to retinoic acid IEA --
GO:0060285 cilium-dependent cell motility IMP 19052621
GO:0070286 axonemal dynein complex assembly IMP 19052621
GO:0071973 bacterial-type flagellum-dependent cell motility IMP --
genes like me logo Genes that share ontologies with DNAAF2: view

No data available for Pathways by source and SIGNOR curated interactions for DNAAF2 Gene

Transcripts for DNAAF2 Gene

mRNA/cDNA for DNAAF2 Gene

Unigene Clusters for DNAAF2 Gene

Dynein, axonemal, assembly factor 2:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DNAAF2 Gene

ExUns: 1a · 1b ^ 2 ^ 3
SP1:
SP2: -

Relevant External Links for DNAAF2 Gene

GeneLoc Exon Structure for
DNAAF2
ECgene alternative splicing isoforms for
DNAAF2

Expression for DNAAF2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DNAAF2 Gene

Protein differential expression in normal tissues from HIPED for DNAAF2 Gene

This gene is overexpressed in Testis (67.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DNAAF2 Gene



Protein tissue co-expression partners for DNAAF2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DNAAF2 Gene:

DNAAF2

SOURCE GeneReport for Unigene cluster for DNAAF2 Gene:

Hs.231761

Evidence on tissue expression from TISSUES for DNAAF2 Gene

  • Intestine(4.2)
  • Bone marrow(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DNAAF2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeleton
  • urinary
Organs:
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 DNAAF2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for DNAAF2 Gene

Orthologs for DNAAF2 Gene

This gene was present in the common ancestor of animals.

Orthologs for DNAAF2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DNAAF2 34 35
  • 99.28 (n)
cow
(Bos Taurus)
Mammalia DNAAF2 34
  • 81.91 (n)
bta-mir-6517 35
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DNAAF2 34 35
  • 80.6 (n)
mouse
(Mus musculus)
Mammalia Dnaaf2 34 16 35
  • 76.42 (n)
rat
(Rattus norvegicus)
Mammalia Dnaaf2 34
  • 76.27 (n)
oppossum
(Monodelphis domestica)
Mammalia DNAAF2 35
  • 47 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DNAAF2 35
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNAAF2 34 35
  • 49.49 (n)
lizard
(Anolis carolinensis)
Reptilia DNAAF2 35
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnaaf2 34
  • 52.34 (n)
zebrafish
(Danio rerio)
Actinopterygii dnaaf2 35
  • 28 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Nop17l 35
  • 23 (a)
OneToOne
Species where no ortholog for DNAAF2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 DNAAF2 Gene

ENSEMBL:
Gene Tree for DNAAF2 (if available)
TreeFam:
Gene Tree for DNAAF2 (if available)

Paralogs for DNAAF2 Gene

(1) SIMAP similar genes for DNAAF2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with DNAAF2: view

No data available for Paralogs for DNAAF2 Gene

Variants for DNAAF2 Gene

Sequence variations from dbSNP and Humsavar for DNAAF2 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs137853191 Pathogenic 49,635,127(-) CTCCT(A/C/T)GTCGC reference, missense
rs397515341 Pathogenic 49,633,935(-) GTGGC(-/ACGATACCTGCGTGGC)TGGGG reference, frameshift-variant
rs797045146 Pathogenic 49,635,119(-) CGCTG(-/G)AGGAC reference, frameshift-variant
rs727504815 Likely pathogenic 49,634,423(-) CTCCG(G/T)AAGCG reference, stop-gained
rs141192321 Likely benign 49,633,691(+) TCCGC(A/G)CGCAC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for DNAAF2 Gene

Variant ID Type Subtype PubMed ID
esv28926 CNV gain+loss 19812545
nsv1035708 CNV gain 25217958

Variation tolerance for DNAAF2 Gene

Residual Variation Intolerance Score: 89.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.56; 96.50% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DNAAF2 Gene

Human Gene Mutation Database (HGMD)
DNAAF2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNAAF2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAAF2 Gene

Disorders for DNAAF2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for DNAAF2 Gene - From: OMIM, ClinVar, GeneTests, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 10
  • primary ciliary dyskinesia 10
ciliary dyskinesia, primary, 1, with or without situs inversus
  • kartagener syndrome
kartagener syndrome
  • kartagener's syndrome
primary ciliary dyskinesia
  • ciliary motility disorder
primary ciliary dyskinesia10: dnaaf2-related primary ciliary dyskinesia
  • primary ciliary dyskinesia10: ktu-related primary ciliary dyskinesia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

KTU_HUMAN
  • Ciliary dyskinesia, primary, 10 (CILD10) [MIM:612518]: 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:19052621, ECO:0000269 PubMed:25186273}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DNAAF2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DNAAF2
genes like me logo Genes that share disorders with DNAAF2: view

No data available for Genatlas for DNAAF2 Gene

Publications for DNAAF2 Gene

  1. DYX1C1 is required for axonemal dynein assembly and ciliary motility. (PMID: 23872636) Tarkar A. … Omran H. (Nat. Genet. 2013) 3 4 64
  2. Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins. (PMID: 19052621) Omran H. … Takeda H. (Nature 2008) 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. The DNA sequence and analysis of human chromosome 14. (PMID: 12508121) Heilig R. … Weissenbach J. (Nature 2003) 3 4 64

Products for DNAAF2 Gene

Sources for DNAAF2 Gene

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