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DNAH5 (dynein axonemal heavy chain 5)

Identity

Alias_namesdynein, axonemal, heavy polypeptide 5
Alias_symbol (synonym)Dnahc5
HL1
PCD
CILD3
KTGNR
Other aliasDNAHC5
HGNC (Hugo) DNAH5
LocusID (NCBI) 1767
Atlas_Id 62552
Location 5p15.2  [Link to chromosome band 5p15]
Location_base_pair Starts at 13690329 and ends at 13944480 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
MYO10 (5p15.1) / DNAH5 (5p15.2)SLK (10q24.33) / DNAH5 (5p15.2)TRIO (5p15.2) / DNAH5 (5p15.2)
MYO10 DNAH5TRIO DNAH5

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)DNAH5   2950
Cards
Entrez_Gene (NCBI)DNAH5  1767  dynein axonemal heavy chain 5
AliasesCILD3; DNAHC5; HL1; KTGNR; 
PCD
GeneCards (Weizmann)DNAH5
Ensembl hg19 (Hinxton)ENSG00000039139 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000039139 [Gene_View]  chr5:13690329-13944480 [Contig_View]  DNAH5 [Vega]
ICGC DataPortalENSG00000039139
TCGA cBioPortalDNAH5
AceView (NCBI)DNAH5
Genatlas (Paris)DNAH5
WikiGenes1767
SOURCE (Princeton)DNAH5
Genetics Home Reference (NIH)DNAH5
Genomic and cartography
GoldenPath hg38 (UCSC)DNAH5  -     chr5:13690329-13944480 -  5p15.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DNAH5  -     5p15.2   [Description]    (hg19-Feb_2009)
EnsemblDNAH5 - 5p15.2 [CytoView hg19]  DNAH5 - 5p15.2 [CytoView hg38]
Mapping of homologs : NCBIDNAH5 [Mapview hg19]  DNAH5 [Mapview hg38]
OMIM603335   608644   
Gene and transcription
Genbank (Entrez)AB046823 AB290164 AK026756 AK055138 AK128600
RefSeq transcript (Entrez)NM_001369
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DNAH5
Cluster EST : UnigeneHs.212360 [ NCBI ]
CGAP (NCI)Hs.212360
Alternative Splicing GalleryENSG00000039139
Gene ExpressionDNAH5 [ NCBI-GEO ]   DNAH5 [ EBI - ARRAY_EXPRESS ]   DNAH5 [ SEEK ]   DNAH5 [ MEM ]
Gene Expression Viewer (FireBrowse)DNAH5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1767
GTEX Portal (Tissue expression)DNAH5
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TE73   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TE73  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TE73
Splice isoforms : SwissVarQ8TE73
PhosPhoSitePlusQ8TE73
Domains : Interpro (EBI)AAA+_ATPase    ATPase_dyneun-rel_AAA    DHC_fam    Dynein_HC_stalk    Dynein_heavy_chain_D4_dom    Dynein_heavy_dom    Dynein_heavy_dom-1    Dynein_heavy_dom-2    P-loop_NTPase   
Domain families : Pfam (Sanger)AAA_5 (PF07728)    AAA_8 (PF12780)    DHC_N1 (PF08385)    DHC_N2 (PF08393)    Dynein_heavy (PF03028)    MT (PF12777)   
Domain families : Pfam (NCBI)pfam07728    pfam12780    pfam08385    pfam08393    pfam03028    pfam12777   
Domain families : Smart (EMBL)AAA (SM00382)  
Conserved Domain (NCBI)DNAH5
DMDM Disease mutations1767
Blocks (Seattle)DNAH5
SuperfamilyQ8TE73
Human Protein AtlasENSG00000039139
Peptide AtlasQ8TE73
HPRD04514
IPIIPI00152653   
Protein Interaction databases
DIP (DOE-UCLA)Q8TE73
IntAct (EBI)Q8TE73
FunCoupENSG00000039139
BioGRIDDNAH5
STRING (EMBL)DNAH5
ZODIACDNAH5
Ontologies - Pathways
QuickGOQ8TE73
Ontology : AmiGOcilium movement  microtubule motor activity  ATP binding  cellular_component  cytoplasm  microtubule  axoneme  determination of left/right symmetry  heart development  biological_process  ATPase activity  lateral ventricle development  flagellated sperm motility  outer dynein arm  outer dynein arm  outer dynein arm assembly  cilium assembly  
Ontology : EGO-EBIcilium movement  microtubule motor activity  ATP binding  cellular_component  cytoplasm  microtubule  axoneme  determination of left/right symmetry  heart development  biological_process  ATPase activity  lateral ventricle development  flagellated sperm motility  outer dynein arm  outer dynein arm  outer dynein arm assembly  cilium assembly  
NDEx NetworkDNAH5
Atlas of Cancer Signalling NetworkDNAH5
Wikipedia pathwaysDNAH5
Orthology - Evolution
OrthoDB1767
GeneTree (enSembl)ENSG00000039139
Phylogenetic Trees/Animal Genes : TreeFamDNAH5
HOVERGENQ8TE73
HOGENOMQ8TE73
Homologs : HomoloGeneDNAH5
Homology/Alignments : Family Browser (UCSC)DNAH5
Gene fusions - Rearrangements
Fusion: TCGAMYO10 DNAH5
Fusion: TCGATRIO DNAH5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDNAH5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DNAH5
dbVarDNAH5
ClinVarDNAH5
1000_GenomesDNAH5 
Exome Variant ServerDNAH5
ExAC (Exome Aggregation Consortium)DNAH5 (select the gene name)
Genetic variants : HAPMAP1767
Genomic Variants (DGV)DNAH5 [DGVbeta]
DECIPHERDNAH5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDNAH5 
Mutations
ICGC Data PortalDNAH5 
TCGA Data PortalDNAH5 
Broad Tumor PortalDNAH5
OASIS PortalDNAH5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDNAH5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDNAH5
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
LOVD (Leiden Open Variation Database)Primary Ciliary Dyskinesia variant database
BioMutasearch DNAH5
DgiDB (Drug Gene Interaction Database)DNAH5
DoCM (Curated mutations)DNAH5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DNAH5 (select a term)
intoGenDNAH5
Cancer3DDNAH5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603335    608644   
Orphanet665   
MedgenDNAH5
Genetic Testing Registry DNAH5
NextProtQ8TE73 [Medical]
TSGene1767
GENETestsDNAH5
Target ValidationDNAH5
Huge Navigator DNAH5 [HugePedia]
snp3D : Map Gene to Disease1767
BioCentury BCIQDNAH5
ClinGenDNAH5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1767
Chemical/Pharm GKB GenePA27403
Clinical trialDNAH5
Miscellaneous
canSAR (ICR)DNAH5 (select the gene name)
Probes
Litterature
PubMed38 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDNAH5
EVEXDNAH5
GoPubMedDNAH5
iHOPDNAH5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 15:46:10 CEST 2017

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