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DNAAF5 (dynein axonemal assembly factor 5)

Identity

Alias_namesHEATR2
HEAT repeat containing 2
dynein, axonemal, assembly factor 5
dynein (axonemal) assembly factor 5
Alias_symbol (synonym)FLJ20397
FLJ31671
FLJ39381
FLJ25564
CILD18
Other alias
HGNC (Hugo) DNAAF5
LocusID (NCBI) 54919
Atlas_Id 76872
Location 7p22.3  [Link to chromosome band 7p22]
Location_base_pair Starts at 726701 and ends at 786479 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
DNAAF5 (7p22.3) / AGPS (2q31.2)DNAAF5 (7p22.3) / MED13L (12q24.21)DNAAF5 (7p22.3) / ZNRF3 (22q12.1)
DPYSL3 (5q32) / DNAAF5 (7p22.3)

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)DNAAF5   26013
Cards
Entrez_Gene (NCBI)DNAAF5  54919  dynein axonemal assembly factor 5
AliasesCILD18; HEATR2
GeneCards (Weizmann)DNAAF5
Ensembl hg19 (Hinxton)ENSG00000164818 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000164818 [Gene_View]  chr7:726701-786479 [Contig_View]  DNAAF5 [Vega]
ICGC DataPortalENSG00000164818
TCGA cBioPortalDNAAF5
AceView (NCBI)DNAAF5
Genatlas (Paris)DNAAF5
WikiGenes54919
SOURCE (Princeton)DNAAF5
Genetics Home Reference (NIH)DNAAF5
Genomic and cartography
GoldenPath hg38 (UCSC)DNAAF5  -     chr7:726701-786479 +  7p22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DNAAF5  -     7p22.3   [Description]    (hg19-Feb_2009)
EnsemblDNAAF5 - 7p22.3 [CytoView hg19]  DNAAF5 - 7p22.3 [CytoView hg38]
Mapping of homologs : NCBIDNAAF5 [Mapview hg19]  DNAAF5 [Mapview hg38]
OMIM614864   614874   
Gene and transcription
Genbank (Entrez)AK000404 AK054595 AK056233 AK096700 AK098430
RefSeq transcript (Entrez)NM_017802
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DNAAF5
Cluster EST : UnigeneHs.535896 [ NCBI ]
CGAP (NCI)Hs.535896
Alternative Splicing GalleryENSG00000164818
Gene ExpressionDNAAF5 [ NCBI-GEO ]   DNAAF5 [ EBI - ARRAY_EXPRESS ]   DNAAF5 [ SEEK ]   DNAAF5 [ MEM ]
Gene Expression Viewer (FireBrowse)DNAAF5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54919
GTEX Portal (Tissue expression)DNAAF5
Human Protein AtlasENSG00000164818-DNAAF5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86Y56   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ86Y56  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ86Y56
Splice isoforms : SwissVarQ86Y56
PhosPhoSitePlusQ86Y56
Domaine pattern : Prosite (Expaxy)HEAT_REPEAT (PS50077)   
Domains : Interpro (EBI)ARM-like    ARM-type_fold    HEAT    HEAT_type_2    TOG   
Domain families : Pfam (Sanger)HEAT (PF02985)   
Domain families : Pfam (NCBI)pfam02985   
Domain families : Smart (EMBL)TOG (SM01349)  
Conserved Domain (NCBI)DNAAF5
DMDM Disease mutations54919
Blocks (Seattle)DNAAF5
SuperfamilyQ86Y56
Human Protein Atlas [tissue]ENSG00000164818-DNAAF5 [tissue]
Peptide AtlasQ86Y56
HPRD07903
IPIIPI00242630   IPI00654611   IPI00894104   IPI00784196   IPI00894230   
Protein Interaction databases
DIP (DOE-UCLA)Q86Y56
IntAct (EBI)Q86Y56
FunCoupENSG00000164818
BioGRIDDNAAF5
STRING (EMBL)DNAAF5
ZODIACDNAAF5
Ontologies - Pathways
QuickGOQ86Y56
Ontology : AmiGOcilium movement  cytoplasm  motile cilium  outer dynein arm assembly  inner dynein arm assembly  dynein intermediate chain binding  
Ontology : EGO-EBIcilium movement  cytoplasm  motile cilium  outer dynein arm assembly  inner dynein arm assembly  dynein intermediate chain binding  
NDEx NetworkDNAAF5
Atlas of Cancer Signalling NetworkDNAAF5
Wikipedia pathwaysDNAAF5
Orthology - Evolution
OrthoDB54919
GeneTree (enSembl)ENSG00000164818
Phylogenetic Trees/Animal Genes : TreeFamDNAAF5
HOVERGENQ86Y56
HOGENOMQ86Y56
Homologs : HomoloGeneDNAAF5
Homology/Alignments : Family Browser (UCSC)DNAAF5
Gene fusions - Rearrangements
Tumor Fusion PortalDNAAF5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDNAAF5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DNAAF5
dbVarDNAAF5
ClinVarDNAAF5
1000_GenomesDNAAF5 
Exome Variant ServerDNAAF5
ExAC (Exome Aggregation Consortium)ENSG00000164818
GNOMAD BrowserENSG00000164818
Genetic variants : HAPMAP54919
Genomic Variants (DGV)DNAAF5 [DGVbeta]
DECIPHERDNAAF5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDNAAF5 
Mutations
ICGC Data PortalDNAAF5 
TCGA Data PortalDNAAF5 
Broad Tumor PortalDNAAF5
OASIS PortalDNAAF5 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDDNAAF5
BioMutasearch DNAAF5
DgiDB (Drug Gene Interaction Database)DNAAF5
DoCM (Curated mutations)DNAAF5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DNAAF5 (select a term)
intoGenDNAAF5
Cancer3DDNAAF5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614864    614874   
Orphanet665   
DisGeNETDNAAF5
MedgenDNAAF5
Genetic Testing Registry DNAAF5
NextProtQ86Y56 [Medical]
TSGene54919
GENETestsDNAAF5
Target ValidationDNAAF5
Huge Navigator DNAAF5 [HugePedia]
snp3D : Map Gene to Disease54919
BioCentury BCIQDNAAF5
ClinGenDNAAF5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54919
Chemical/Pharm GKB GenePA145008229
Clinical trialDNAAF5
Miscellaneous
canSAR (ICR)DNAAF5 (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDNAAF5
EVEXDNAAF5
GoPubMedDNAAF5
iHOPDNAAF5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 13:15:57 CET 2017

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