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Aliases for DNAAF4 Gene

Aliases for DNAAF4 Gene

  • Dynein Axonemal Assembly Factor 4 2 3 5
  • Dyslexia Susceptibility 1 Candidate Gene 1 Protein 3 4
  • Dyslexia Susceptibility 1 Candidate 1 2 3
  • DYX1C1 3 4
  • EKN1 3 4
  • Dynein, Axonemal, Assembly Factor 4 2
  • Dynein Assembly Factor 4, Axonemal 3
  • CILD25 3
  • DYXC1 3
  • DYX1 3
  • RD 3

External Ids for DNAAF4 Gene

Previous HGNC Symbols for DNAAF4 Gene

  • DYX1C1

Previous GeneCards Identifiers for DNAAF4 Gene

  • GC15M055834
  • GC15M056266
  • GC15M056715

Summaries for DNAAF4 Gene

Entrez Gene Summary for DNAAF4 Gene

  • This gene encodes a tetratricopeptide repeat domain-containing protein. The encoded protein interacts with estrogen receptors and the heat shock proteins, Hsp70 and Hsp90. An homologous protein in rat has been shown to function in neuronal migration in the developing neocortex. A chromosomal translocation involving this gene is associated with a susceptibility to developmental dyslexia. Mutations in this gene are associated with deficits in reading and spelling. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream cell cycle progression 1 (CCPG1) gene. [provided by RefSeq, Mar 2011]

GeneCards Summary for DNAAF4 Gene

DNAAF4 (Dynein Axonemal Assembly Factor 4) is a Protein Coding gene. Diseases associated with DNAAF4 include Ciliary Dyskinesia, Primary, 25 and Dyslexia 1.

UniProtKB/Swiss-Prot for DNAAF4 Gene

  • Axonemal dynein assembly factor required for ciliary motility. Involved in neuronal migration during development of the cerebral neocortex. May regulate the stability and proteasomal degradation of the estrogen receptors that play an important role in neuronal differentiation, survival and plasticity.

Gene Wiki entry for DNAAF4 Gene

Additional gene information for DNAAF4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAAF4 Gene

Genomics for DNAAF4 Gene

GeneHancer (GH) Regulatory Elements for DNAAF4 Gene

Promoters and enhancers for DNAAF4 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
GH15J055497 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 656.7 +9.9 9864 1.5 ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 GTF3C2 ZNF143 MXD4 ZNF518A DNAAF4 DNAAF4-CCPG1 RFX7 RSL24D1 PYGO1 C15orf65 PIGB LOC100420711
GH15J055401 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.3 +102.7 102675 7.7 HDGF PKNOX1 CLOCK ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B C15orf65 CCPG1 RSL24D1 RFX7 NEDD4 PYGO1 DNAAF4 PIGBOS1 PIGB GC15M057886
GH15J055288 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.2 +218.6 218597 3.1 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 IRF4 YY1 SLC30A9 POLR2B RAB27A ENSG00000276533 PIGB RFX7 PIGBOS1 DNAAF4 CCPG1 PIR62136
GH15J055317 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 6.5 +189.0 188982 3 HDGF PKNOX1 SMAD1 ZFP64 ARID4B SIN3A DMAP1 IRF4 YY1 SLC30A9 PIGB PIGBOS1 RAB27A RFX7 DNAAF4 ENSG00000274765
GH15J055265 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 6.4 +240.7 240706 4.6 BCOR MEIS2 LEF1 JUN ZMYM3 EBF1 FOSL1 ZNF316 ZNF366 SCRT2 PIGB RAB27A DNAAF4 GC15P055286 GC15M057897
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DNAAF4 on UCSC Golden Path with GeneCards custom track

Genomic Locations for DNAAF4 Gene

Genomic Locations for DNAAF4 Gene
chr15:55,410,525-55,508,234
(GRCh38/hg38)
Size:
97,710 bases
Orientation:
Minus strand
chr15:55,702,723-55,800,432
(GRCh37/hg19)
Size:
97,710 bases
Orientation:
Minus strand

Genomic View for DNAAF4 Gene

Genes around DNAAF4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAAF4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAAF4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAAF4 Gene

Proteins for DNAAF4 Gene

  • Protein details for DNAAF4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WXU2-DAAF4_HUMAN
    Recommended name:
    Dynein assembly factor 4, axonemal
    Protein Accession:
    Q8WXU2
    Secondary Accessions:
    • Q6P5Y9
    • Q8N1S6

    Protein attributes for DNAAF4 Gene

    Size:
    420 amino acids
    Molecular mass:
    48527 Da
    Quaternary structure:
    • Interacts with ESR1 and ESR2 (PubMed:19423554). Interacts with STUB1 (PubMed:19423554). Interacts with DNAAF2 (PubMed:23872636). Interacts with CCT3, CCT4, CCT5 and CCT8 (By similarity). Interacts with PIH1D3 (PubMed:28041644).

    Alternative splice isoforms for DNAAF4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNAAF4 Gene

Post-translational modifications for DNAAF4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DNAAF4 Gene

No data available for DME Specific Peptides for DNAAF4 Gene

Domains & Families for DNAAF4 Gene

Gene Families for DNAAF4 Gene

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

Protein Domains for DNAAF4 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with DNAAF4: view

No data available for UniProtKB/Swiss-Prot for DNAAF4 Gene

Function for DNAAF4 Gene

Molecular function for DNAAF4 Gene

UniProtKB/Swiss-Prot Function:
Axonemal dynein assembly factor required for ciliary motility. Involved in neuronal migration during development of the cerebral neocortex. May regulate the stability and proteasomal degradation of the estrogen receptors that play an important role in neuronal differentiation, survival and plasticity.

Gene Ontology (GO) - Molecular Function for DNAAF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19423554
GO:0030331 estrogen receptor binding IDA 19423554
genes like me logo Genes that share ontologies with DNAAF4: view
genes like me logo Genes that share phenotypes with DNAAF4: view

Human Phenotype Ontology for DNAAF4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DNAAF4 Gene

MGI Knock Outs for DNAAF4:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , miRNA , Transcription Factor Targets and HOMER Transcription for DNAAF4 Gene

Localization for DNAAF4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAAF4 Gene

Nucleus. 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 DNAAF4 gene
Compartment Confidence
nucleus 5
plasma membrane 4
cytosol 4
cytoskeleton 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DNAAF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 16989952
GO:0005737 cytoplasm IEA,IDA 16989952
GO:0005813 centrosome IEA --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with DNAAF4: view

Pathways & Interactions for DNAAF4 Gene

SuperPathways for DNAAF4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DNAAF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration ISS --
GO:0003341 cilium movement IMP 23872636
GO:0003351 epithelial cilium movement IBA --
GO:0006457 protein folding IBA --
GO:0007368 determination of left/right symmetry IMP 23872636
genes like me logo Genes that share ontologies with DNAAF4: view

No data available for Pathways by source and SIGNOR curated interactions for DNAAF4 Gene

Drugs & Compounds for DNAAF4 Gene

No Compound Related Data Available

Transcripts for DNAAF4 Gene

mRNA/cDNA for DNAAF4 Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DNAAF4 Gene

No ASD Table

Relevant External Links for DNAAF4 Gene

GeneLoc Exon Structure for
DNAAF4
ECgene alternative splicing isoforms for
DNAAF4

Expression for DNAAF4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of DNAAF4 Gene:

DNAAF4

mRNA Expression by UniProt/SwissProt for DNAAF4 Gene:

Q8WXU2-DAAF4_HUMAN
Tissue specificity: Expressed in several tissues, including brain, lung, kidney and testis. In brain localizes to a fraction of cortical neurons and white matter glial cells.

Evidence on tissue expression from TISSUES for DNAAF4 Gene

  • Nervous system(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DNAAF4 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 DNAAF4: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for DNAAF4 Gene

Orthologs for DNAAF4 Gene

This gene was present in the common ancestor of animals.

Orthologs for DNAAF4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DYX1C1 34 33
  • 99.52 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DYX1C1 34 33
  • 90.32 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DYX1C1 34 33
  • 90.21 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dyx1c1 16 34 33
  • 80.22 (n)
Gm20510 34
  • 78 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Dyx1c1 33
  • 80.14 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DYX1C1 34
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DYX1C1 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves DYX1C1 34 33
  • 70.35 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DYX1C1 34
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dyx1c1 33
  • 62.99 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15925 33
zebrafish
(Danio rerio)
Actinopterygii dyx1c1 34 33
  • 60.13 (n)
OneToOne
Dr.15037 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1735 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001727 33
  • 43.4 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 45 (a)
OneToOne
Species where no ortholog for DNAAF4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DNAAF4 Gene

ENSEMBL:
Gene Tree for DNAAF4 (if available)
TreeFam:
Gene Tree for DNAAF4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DNAAF4: view image

Paralogs for DNAAF4 Gene

No data available for Paralogs for DNAAF4 Gene

Variants for DNAAF4 Gene

Sequence variations from dbSNP and Humsavar for DNAAF4 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1060503094 uncertain-significance, Primary ciliary dyskinesia 55,430,708(-) T/A coding_sequence_variant, intron_variant, missense_variant
rs1060503095 pathogenic, Primary ciliary dyskinesia 55,497,816(-) GGA/AG coding_sequence_variant, frameshift
rs1060503096 uncertain-significance, Primary ciliary dyskinesia 55,435,056(-) T/C coding_sequence_variant, missense_variant
rs114245686 uncertain-significance, Primary ciliary dyskinesia 55,497,786(-) A/G coding_sequence_variant, missense_variant
rs116339967 uncertain-significance, Primary ciliary dyskinesia 55,439,484(-) T/A coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for DNAAF4 Gene

Variant ID Type Subtype PubMed ID
esv2761899 CNV gain+loss 21179565
esv3365892 CNV insertion 20981092
esv3569609 CNV gain 25503493
esv3636564 CNV loss 21293372
esv3636565 CNV loss 21293372
esv3892697 CNV loss 25118596
nsv1043789 CNV gain 25217958
nsv1113713 CNV deletion 24896259
nsv1542 CNV insertion 18451855
nsv520799 CNV loss 19592680
nsv569523 CNV gain 21841781
nsv569539 CNV loss 21841781
nsv817693 CNV loss 17921354
nsv833016 CNV gain 17160897
nsv951964 CNV deletion 24416366
nsv984074 CNV duplication 23825009

Variation tolerance for DNAAF4 Gene

Residual Variation Intolerance Score: 83.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.87; 89.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DNAAF4 Gene

Human Gene Mutation Database (HGMD)
DNAAF4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNAAF4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAAF4 Gene

Disorders for DNAAF4 Gene

MalaCards: The human disease database

(7) MalaCards diseases for DNAAF4 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 25
  • cild25
dyslexia 1
  • dyslexia, susceptibility to, 1
dyslexia
reading disorder
  • dyslexia
specific developmental disorder
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DAAF4_HUMAN
  • Dyslexia 1 (DYX1) [MIM:127700]: A relatively common, complex cognitive disorder characterized by an impairment of reading performance despite adequate motivational, educational and intellectual opportunities. It is a multifactorial trait, with evidence for familial clustering and heritability. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. A chromosomal aberration involving DNAAF4 has been found in a family affected by dyslexia. Translocation t(2;15)(q11;q21).
  • Ciliary dyskinesia, primary, 25 (CILD25) [MIM:615482]: 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. Patients may 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:23872636, ECO:0000269 PubMed:25186273}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DNAAF4

genes like me logo Genes that share disorders with DNAAF4: view

No data available for Genatlas for DNAAF4 Gene

Publications for DNAAF4 Gene

  1. A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain. (PMID: 12954984) Taipale M … Kere J (Proceedings of the National Academy of Sciences of the United States of America 2003) 2 3 4 22 58
  2. 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) 2 3 4 58
  3. DYX1C1 is required for axonemal dynein assembly and ciliary motility. (PMID: 23872636) Tarkar A … Omran H (Nature genetics 2013) 2 3 4 58
  4. Functional interaction of DYX1C1 with estrogen receptors suggests involvement of hormonal pathways in dyslexia. (PMID: 19423554) Massinen S … Kere J (Human molecular genetics 2009) 3 4 58
  5. DYX1C1 functions in neuronal migration in developing neocortex. (PMID: 16989952) Wang Y … Loturco JJ (Neuroscience 2006) 3 4 58

Products for DNAAF4 Gene

Sources for DNAAF4 Gene

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