Atlas of Genetics and Cytogenetics in Oncology and Haematology


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DNAAF2 (dynein axonemal assembly factor 2)

Identity

Alias (NCBI)C14orf104
CILD10
KTU
PF13
HGNC (Hugo) DNAAF2
HGNC Alias symbFLJ10563
KTU
PF13
CILD10
HGNC Alias namekintoun
HGNC Previous nameC14orf104
HGNC Previous namechromosome 14 open reading frame 104
 dynein, axonemal, assembly factor 2
 dynein (axonemal) assembly factor 2
LocusID (NCBI) 55172
Atlas_Id 62541
Location 14q21.3  [Link to chromosome band 14q21]
Location_base_pair Starts at 49625174 and ends at 49635230 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)

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)DNAAF2   20188
Cards
Entrez_Gene (NCBI)DNAAF2  55172  dynein axonemal assembly factor 2
AliasesC14orf104; CILD10; KTU; PF13
GeneCards (Weizmann)DNAAF2
Ensembl hg19 (Hinxton)ENSG00000165506 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000165506 [Gene_View]  ENSG00000165506 [Sequence]  chr14:49625174-49635230 [Contig_View]  DNAAF2 [Vega]
ICGC DataPortalENSG00000165506
TCGA cBioPortalDNAAF2
AceView (NCBI)DNAAF2
Genatlas (Paris)DNAAF2
WikiGenes55172
SOURCE (Princeton)DNAAF2
Genetics Home Reference (NIH)DNAAF2
Genomic and cartography
GoldenPath hg38 (UCSC)DNAAF2  -     chr14:49625174-49635230 -  14q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DNAAF2  -     14q21.3   [Description]    (hg19-Feb_2009)
GoldenPathDNAAF2 - 14q21.3 [CytoView hg19]  DNAAF2 - 14q21.3 [CytoView hg38]
ImmunoBaseENSG00000165506
genome Data Viewer NCBIDNAAF2 [Mapview hg19]  
OMIM612517   612518   
Gene and transcription
Genbank (Entrez)AK001425 BC011400 BC013322 BX092175 BX248264
RefSeq transcript (Entrez)NM_001083908 NM_018139
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DNAAF2
Alternative Splicing GalleryENSG00000165506
Gene ExpressionDNAAF2 [ NCBI-GEO ]   DNAAF2 [ EBI - ARRAY_EXPRESS ]   DNAAF2 [ SEEK ]   DNAAF2 [ MEM ]
Gene Expression Viewer (FireBrowse)DNAAF2 [ Firebrowse - Broad ]
GenevisibleExpression of DNAAF2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55172
GTEX Portal (Tissue expression)DNAAF2
Human Protein AtlasENSG00000165506-DNAAF2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NVR5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NVR5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NVR5
Splice isoforms : SwissVarQ9NVR5
PhosPhoSitePlusQ9NVR5
Domains : Interpro (EBI)Kintoun    PIH1_N    PIH1D1/2/3_CS-like   
Domain families : Pfam (Sanger)PIH1 (PF08190)    PIH1_CS (PF18201)   
Domain families : Pfam (NCBI)pfam08190    pfam18201   
Conserved Domain (NCBI)DNAAF2
DMDM Disease mutations55172
Blocks (Seattle)DNAAF2
SuperfamilyQ9NVR5
Human Protein Atlas [tissue]ENSG00000165506-DNAAF2 [tissue]
Peptide AtlasQ9NVR5
HPRD12627
IPIIPI00018698   IPI00056562   
Protein Interaction databases
DIP (DOE-UCLA)Q9NVR5
IntAct (EBI)Q9NVR5
FunCoupENSG00000165506
BioGRIDDNAAF2
STRING (EMBL)DNAAF2
ZODIACDNAAF2
Ontologies - Pathways
QuickGOQ9NVR5
Ontology : AmiGOprotein binding  cytoplasm  cytosol  response to retinoic acid  cilium-dependent cell motility  cilium-dependent cell motility  axonemal dynein complex assembly  axonemal dynein complex assembly  
Ontology : EGO-EBIprotein binding  cytoplasm  cytosol  response to retinoic acid  cilium-dependent cell motility  cilium-dependent cell motility  axonemal dynein complex assembly  axonemal dynein complex assembly  
NDEx NetworkDNAAF2
Atlas of Cancer Signalling NetworkDNAAF2
Wikipedia pathwaysDNAAF2
Orthology - Evolution
OrthoDB55172
GeneTree (enSembl)ENSG00000165506
Phylogenetic Trees/Animal Genes : TreeFamDNAAF2
HOGENOMQ9NVR5
Homologs : HomoloGeneDNAAF2
Homology/Alignments : Family Browser (UCSC)DNAAF2
Gene fusions - Rearrangements
Fusion : QuiverDNAAF2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDNAAF2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DNAAF2
dbVarDNAAF2
ClinVarDNAAF2
1000_GenomesDNAAF2 
Exome Variant ServerDNAAF2
GNOMAD BrowserENSG00000165506
Varsome BrowserDNAAF2
Genetic variants : HAPMAP55172
Genomic Variants (DGV)DNAAF2 [DGVbeta]
DECIPHERDNAAF2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDNAAF2 
Mutations
ICGC Data PortalDNAAF2 
TCGA Data PortalDNAAF2 
Broad Tumor PortalDNAAF2
OASIS PortalDNAAF2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDNAAF2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DDNAAF2
Mutations and Diseases : HGMDDNAAF2
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 DNAAF2
DgiDB (Drug Gene Interaction Database)DNAAF2
DoCM (Curated mutations)DNAAF2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DNAAF2 (select a term)
intoGenDNAAF2
Cancer3DDNAAF2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612517    612518   
Orphanet665   
DisGeNETDNAAF2
MedgenDNAAF2
Genetic Testing Registry DNAAF2
NextProtQ9NVR5 [Medical]
TSGene55172
GENETestsDNAAF2
Target ValidationDNAAF2
Huge Navigator DNAAF2 [HugePedia]
snp3D : Map Gene to Disease55172
BioCentury BCIQDNAAF2
ClinGenDNAAF2
Clinical trials, drugs, therapy
Protein Interactions : CTD55172
Pharm GKB GenePA134910310
Clinical trialDNAAF2
Miscellaneous
canSAR (ICR)DNAAF2 (select the gene name)
HarmonizomeDNAAF2
DataMed IndexDNAAF2
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDNAAF2
EVEXDNAAF2
GoPubMedDNAAF2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Aug 22 19:10:05 CEST 2020

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