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DNAH6 (dynein axonemal heavy chain 6)

Identity

Alias_namesDNHL1
dynein, axonemal, heavy polypeptide 6
dynein heavy chain-like 1
Alias_symbol (synonym)Dnahc6
HL-2
FLJ37357
Other aliasHL2
HGNC (Hugo) DNAH6
LocusID (NCBI) 1768
Atlas_Id 62553
Location 2p11.2  [Link to chromosome band 2p11]
Location_base_pair Starts at 84516455 and ends at 84819589 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DNAH6 (2p11.2) / CHD6 (20q12)DNAH6 (2p11.2) / PSAP (10q22.1)KCMF1 (2p11.2) / DNAH6 (2p11.2)
TCF7L1 (2p11.2) / DNAH6 (2p11.2)USP39 (2p11.2) / DNAH6 (2p11.2)USP39 DNAH6
TCF7L1 DNAH6

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)DNAH6   2951
Cards
Entrez_Gene (NCBI)DNAH6  1768  dynein axonemal heavy chain 6
AliasesDNHL1; Dnahc6; HL-2; HL2
GeneCards (Weizmann)DNAH6
Ensembl hg19 (Hinxton)ENSG00000115423 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000115423 [Gene_View]  chr2:84516455-84819589 [Contig_View]  DNAH6 [Vega]
ICGC DataPortalENSG00000115423
TCGA cBioPortalDNAH6
AceView (NCBI)DNAH6
Genatlas (Paris)DNAH6
WikiGenes1768
SOURCE (Princeton)DNAH6
Genetics Home Reference (NIH)DNAH6
Genomic and cartography
GoldenPath hg38 (UCSC)DNAH6  -     chr2:84516455-84819589 +  2p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DNAH6  -     2p11.2   [Description]    (hg19-Feb_2009)
EnsemblDNAH6 - 2p11.2 [CytoView hg19]  DNAH6 - 2p11.2 [CytoView hg38]
Mapping of homologs : NCBIDNAH6 [Mapview hg19]  DNAH6 [Mapview hg38]
OMIM603336   
Gene and transcription
Genbank (Entrez)AB051484 AB290165 AJ132086 AK027182 AK094676
RefSeq transcript (Entrez)NM_001370 NM_173645
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DNAH6
Cluster EST : UnigeneHs.249972 [ NCBI ]
CGAP (NCI)Hs.249972
Alternative Splicing GalleryENSG00000115423
Gene ExpressionDNAH6 [ NCBI-GEO ]   DNAH6 [ EBI - ARRAY_EXPRESS ]   DNAH6 [ SEEK ]   DNAH6 [ MEM ]
Gene Expression Viewer (FireBrowse)DNAH6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1768
GTEX Portal (Tissue expression)DNAH6
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9C0G6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9C0G6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9C0G6
Splice isoforms : SwissVarQ9C0G6
PhosPhoSitePlusQ9C0G6
Domains : Interpro (EBI)AAA+_ATPase    ATPase_dyneun-rel_AAA    DHC_fam    DNAH6    Dynein_HC_stalk    Dynein_heavy_chain_D4_dom    Dynein_heavy_dom    Dynein_heavy_dom-2    P-loop_NTPase   
Domain families : Pfam (Sanger)AAA_5 (PF07728)    AAA_8 (PF12780)    DHC_N2 (PF08393)    Dynein_heavy (PF03028)    MT (PF12777)   
Domain families : Pfam (NCBI)pfam07728    pfam12780    pfam08393    pfam03028    pfam12777   
Domain families : Smart (EMBL)AAA (SM00382)  
Conserved Domain (NCBI)DNAH6
DMDM Disease mutations1768
Blocks (Seattle)DNAH6
SuperfamilyQ9C0G6
Human Protein AtlasENSG00000115423
Peptide AtlasQ9C0G6
IPIIPI00884996   IPI00884893   IPI00166304   IPI00884959   
Protein Interaction databases
DIP (DOE-UCLA)Q9C0G6
IntAct (EBI)Q9C0G6
FunCoupENSG00000115423
BioGRIDDNAH6
STRING (EMBL)DNAH6
ZODIACDNAH6
Ontologies - Pathways
QuickGOQ9C0G6
Ontology : AmiGOcilium or flagellum-dependent cell motility  microtubule motor activity  ATP binding  cytoplasm  axonemal dynein complex  microtubule  microtubule-based movement  ATPase activity  
Ontology : EGO-EBIcilium or flagellum-dependent cell motility  microtubule motor activity  ATP binding  cytoplasm  axonemal dynein complex  microtubule  microtubule-based movement  ATPase activity  
Pathways : BIOCARTALissencephaly gene (LIS1) in neuronal migration and development [Genes]   
NDEx NetworkDNAH6
Atlas of Cancer Signalling NetworkDNAH6
Wikipedia pathwaysDNAH6
Orthology - Evolution
OrthoDB1768
GeneTree (enSembl)ENSG00000115423
Phylogenetic Trees/Animal Genes : TreeFamDNAH6
HOVERGENQ9C0G6
HOGENOMQ9C0G6
Homologs : HomoloGeneDNAH6
Homology/Alignments : Family Browser (UCSC)DNAH6
Gene fusions - Rearrangements
Fusion: TCGAUSP39 DNAH6
Fusion: TCGATCF7L1 DNAH6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDNAH6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DNAH6
dbVarDNAH6
ClinVarDNAH6
1000_GenomesDNAH6 
Exome Variant ServerDNAH6
ExAC (Exome Aggregation Consortium)DNAH6 (select the gene name)
Genetic variants : HAPMAP1768
Genomic Variants (DGV)DNAH6 [DGVbeta]
DECIPHERDNAH6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDNAH6 
Mutations
ICGC Data PortalDNAH6 
TCGA Data PortalDNAH6 
Broad Tumor PortalDNAH6
OASIS PortalDNAH6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDNAH6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDNAH6
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 DNAH6
DgiDB (Drug Gene Interaction Database)DNAH6
DoCM (Curated mutations)DNAH6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DNAH6 (select a term)
intoGenDNAH6
Cancer3DDNAH6(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603336   
Orphanet
MedgenDNAH6
Genetic Testing Registry DNAH6
NextProtQ9C0G6 [Medical]
TSGene1768
GENETestsDNAH6
Target ValidationDNAH6
Huge Navigator DNAH6 [HugePedia]
snp3D : Map Gene to Disease1768
BioCentury BCIQDNAH6
ClinGenDNAH6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1768
Chemical/Pharm GKB GenePA27404
Clinical trialDNAH6
Miscellaneous
canSAR (ICR)DNAH6 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDNAH6
EVEXDNAH6
GoPubMedDNAH6
iHOPDNAH6
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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