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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 Primary Ciliary Dyskinesia.

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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for DNAAF2 Gene

Promoters and enhancers for DNAAF2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14I049632 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.7 723 5 HDGF PKNOX1 SMAD1 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 ZBTB7B YY1 DNAAF2 PIR31071 RPL36AL RNU6ATAC30P STK16P1 RHOQP1
GH14I049618 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 15.1 +13.0 13045 6.4 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF207 RPL36AL MGAT2 ENSG00000258377 LRR1 DNAAF2 RNU6ATAC30P VCPKMT RHOQP1 KLHDC2 NEMF
GH14I049860 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 11.3 -227.1 -227064 4.6 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 PIR56593 RN7SL2 GC14P049865 GC14M049869 GC14M049865 ENSG00000278002 KLHDC1 NEMF MAP4K5 KLHDC2
GH14I050080 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.7 -449.9 -449898 8.9 HDGF PKNOX1 SMAD1 BMI1 BATF KLF5 IRF4 TCF12 SCRT2 ZNF207 GC14P050088 ENSG00000251792 VCPKMT RNU6-189P DNAAF2 ATP5S LINC01588 ARF6 KLHDC2 NEMF
GH14I050034 Enhancer 1.3 Ensembl ENCODE dbSUPER 9.7 -403.1 -403104 7.3 HDGF PKNOX1 SMAD1 IRF4 ZNF766 ZNF143 ATF7 FOS RUNX3 JUNB KLHDC1 NEMF DNAAF2 LINC01588 PDLIM1P1 GC14M050001
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DNAAF2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for DNAAF2 Gene

Genomic Locations for DNAAF2 Gene
chr14:49,625,174-49,635,230
(GRCh38/hg38)
Size:
10,057 bases
Orientation:
Minus strand
chr14:50,091,892-50,101,948
(GRCh37/hg19)

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 DNAAF4 (PubMed:23872636). Interacts with PIH1D3 (PubMed:28041644).
    SequenceCaution:
    • Sequence=BAA91684.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAD66572.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for DNAAF2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNAAF2 Gene

Post-translational modifications for DNAAF2 Gene

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

Gene Families for DNAAF2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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

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.

Phenotypes From GWAS Catalog for DNAAF2 Gene

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

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

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DNAAF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 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:0060285 cilium-dependent cell motility IMP 19052621
GO:0070286 axonemal dynein complex assembly IMP 19052621
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

Drugs & Compounds for DNAAF2 Gene

No Compound Related Data Available

Transcripts for DNAAF2 Gene

mRNA/cDNA for DNAAF2 Gene

Unigene Clusters for DNAAF2 Gene

Dynein, axonemal, assembly factor 2:
Representative Sequences:

Inhibitory RNA 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 33 34
  • 99.28 (n)
cow
(Bos Taurus)
Mammalia DNAAF2 33
  • 81.91 (n)
bta-mir-6517 34
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DNAAF2 33 34
  • 80.6 (n)
mouse
(Mus musculus)
Mammalia Dnaaf2 33 16 34
  • 76.42 (n)
rat
(Rattus norvegicus)
Mammalia Dnaaf2 33
  • 76.27 (n)
oppossum
(Monodelphis domestica)
Mammalia DNAAF2 34
  • 47 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DNAAF2 34
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNAAF2 33 34
  • 49.49 (n)
lizard
(Anolis carolinensis)
Reptilia DNAAF2 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnaaf2 33
  • 52.34 (n)
zebrafish
(Danio rerio)
Actinopterygii dnaaf2 34
  • 28 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Nop17l 34
  • 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 Variation AA Info Type
rs1060503179 uncertain-significance, Primary ciliary dyskinesia 49,634,078(-) C/T coding_sequence_variant, missense_variant
rs112044935 benign, conflicting-interpretations-of-pathogenicity, not specified, Primary ciliary dyskinesia 49,634,422(-) T/G coding_sequence_variant, missense_variant
rs112700048 uncertain-significance, Primary ciliary dyskinesia 49,634,419(-) G/T coding_sequence_variant, missense_variant
rs116185352 likely-benign, benign, conflicting-interpretations-of-pathogenicity, Primary ciliary dyskinesia, not specified 49,635,006(-) G/A/T coding_sequence_variant, missense_variant, synonymous_variant
rs12160 benign, Congenital disorder of glycosylation, Primary ciliary dyskinesia 49,625,214(-) T/A 3_prime_UTR_variant

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)

Additional Variant Information 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

(4) MalaCards diseases for DNAAF2 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 10
  • cild10
primary ciliary dyskinesia
  • ciliary motility disorder
kartagener syndrome
  • kartagener's syndrome
ciliary dyskinesia, primary, 1
  • pcd
- 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.

Additional Disease Information for 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. Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects. (PMID: 28041644) Paff T … Micha D (American journal of human genetics 2017) 3 4 58
  2. DYX1C1 is required for axonemal dynein assembly and ciliary motility. (PMID: 23872636) Tarkar A … Omran H (Nature genetics 2013) 3 4 58
  3. Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins. (PMID: 19052621) Omran H … Takeda H (Nature 2008) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for DNAAF2 Gene

Sources for DNAAF2 Gene

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