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DNAAF3 (dynein axonemal assembly factor 3)

Identity

Alias_namesC19orf51
CILD2
chromosome 19 open reading frame 51
ciliary dyskinesia, primary 2
dynein, axonemal, assembly factor 3
dynein (axonemal) assembly factor 3
Alias_symbol (synonym)FLJ40069
FLJ36139
PF22
PCD
Other aliasDAB1
HGNC (Hugo) DNAAF3
LocusID (NCBI) 352909
Atlas_Id 62542
Location 19q13.42  [Link to chromosome band 19q13]
Location_base_pair Starts at 55158661 and ends at 55166722 bp from pter ( according to hg38-Dec_2013)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)DNAAF3   30492
Cards
Entrez_Gene (NCBI)DNAAF3  352909  dynein axonemal assembly factor 3
AliasesC19orf51; CILD2; DAB1; PCD; 
PF22
GeneCards (Weizmann)DNAAF3
Ensembl hg19 (Hinxton)ENSG00000167646 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000167646 [Gene_View]  chr19:55158661-55166722 [Contig_View]  DNAAF3 [Vega]
ICGC DataPortalENSG00000167646
TCGA cBioPortalDNAAF3
AceView (NCBI)DNAAF3
Genatlas (Paris)DNAAF3
WikiGenes352909
SOURCE (Princeton)DNAAF3
Genetics Home Reference (NIH)DNAAF3
Genomic and cartography
GoldenPath hg38 (UCSC)DNAAF3  -     chr19:55158661-55166722 -  19q13.42   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DNAAF3  -     19q13.42   [Description]    (hg19-Feb_2009)
EnsemblDNAAF3 - 19q13.42 [CytoView hg19]  DNAAF3 - 19q13.42 [CytoView hg38]
Mapping of homologs : NCBIDNAAF3 [Mapview hg19]  DNAAF3 [Mapview hg38]
OMIM606763   614566   
Gene and transcription
Genbank (Entrez)AK093458 AK093473 AK097388 AW182162 BC016843
RefSeq transcript (Entrez)NM_001031802 NM_001256714 NM_001256715 NM_001256716 NM_178837
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DNAAF3
Cluster EST : UnigeneHs.351582 [ NCBI ]
CGAP (NCI)Hs.351582
Alternative Splicing GalleryENSG00000167646
Gene ExpressionDNAAF3 [ NCBI-GEO ]   DNAAF3 [ EBI - ARRAY_EXPRESS ]   DNAAF3 [ SEEK ]   DNAAF3 [ MEM ]
Gene Expression Viewer (FireBrowse)DNAAF3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)352909
GTEX Portal (Tissue expression)DNAAF3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N9W5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N9W5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N9W5
Splice isoforms : SwissVarQ8N9W5
PhosPhoSitePlusQ8N9W5
Domains : Interpro (EBI)DNAAF3_C    DUF4470   
Domain families : Pfam (Sanger)DUF4470 (PF14737)    DUF4471 (PF14740)   
Domain families : Pfam (NCBI)pfam14737    pfam14740   
Conserved Domain (NCBI)DNAAF3
DMDM Disease mutations352909
Blocks (Seattle)DNAAF3
SuperfamilyQ8N9W5
Human Protein AtlasENSG00000167646
Peptide AtlasQ8N9W5
HPRD14185
IPIIPI00971028   IPI00791561   IPI00167830   IPI00550238   IPI00658010   IPI00973739   IPI00977447   IPI00975627   IPI00984757   IPI00977344   IPI00976716   IPI00984275   IPI00985398   
Protein Interaction databases
DIP (DOE-UCLA)Q8N9W5
IntAct (EBI)Q8N9W5
FunCoupENSG00000167646
BioGRIDDNAAF3
STRING (EMBL)DNAAF3
ZODIACDNAAF3
Ontologies - Pathways
QuickGOQ8N9W5
Ontology : AmiGOcytoplasm  motile cilium assembly  axonemal dynein complex assembly  
Ontology : EGO-EBIcytoplasm  motile cilium assembly  axonemal dynein complex assembly  
NDEx NetworkDNAAF3
Atlas of Cancer Signalling NetworkDNAAF3
Wikipedia pathwaysDNAAF3
Orthology - Evolution
OrthoDB352909
GeneTree (enSembl)ENSG00000167646
Phylogenetic Trees/Animal Genes : TreeFamDNAAF3
HOVERGENQ8N9W5
HOGENOMQ8N9W5
Homologs : HomoloGeneDNAAF3
Homology/Alignments : Family Browser (UCSC)DNAAF3
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDNAAF3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DNAAF3
dbVarDNAAF3
ClinVarDNAAF3
1000_GenomesDNAAF3 
Exome Variant ServerDNAAF3
ExAC (Exome Aggregation Consortium)DNAAF3 (select the gene name)
Genetic variants : HAPMAP352909
Genomic Variants (DGV)DNAAF3 [DGVbeta]
DECIPHERDNAAF3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDNAAF3 
Mutations
ICGC Data PortalDNAAF3 
TCGA Data PortalDNAAF3 
Broad Tumor PortalDNAAF3
OASIS PortalDNAAF3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDNAAF3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDNAAF3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DNAAF3
DgiDB (Drug Gene Interaction Database)DNAAF3
DoCM (Curated mutations)DNAAF3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DNAAF3 (select a term)
intoGenDNAAF3
Cancer3DDNAAF3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606763    614566   
Orphanet665   
MedgenDNAAF3
Genetic Testing Registry DNAAF3
NextProtQ8N9W5 [Medical]
TSGene352909
GENETestsDNAAF3
Huge Navigator DNAAF3 [HugePedia]
snp3D : Map Gene to Disease352909
BioCentury BCIQDNAAF3
ClinGenDNAAF3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD352909
Chemical/Pharm GKB GenePA147358371
Clinical trialDNAAF3
Miscellaneous
canSAR (ICR)DNAAF3 (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDNAAF3
EVEXDNAAF3
GoPubMedDNAAF3
iHOPDNAAF3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Fri May 19 11:08:40 CEST 2017

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