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DNAH2 (dynein, axonemal, heavy chain 2)

Identity

Alias_namesDNHD3
dynein, axonemal, heavy polypeptide 2
dynein heavy chain domain 3
Alias_symbol (synonym)KIAA1503
FLJ46675
Other aliasDNAHC2
HGNC (Hugo) DNAH2
LocusID (NCBI) 146754
Atlas_Id 62550
Location 17p13.1  [Link to chromosome band 17p13]
Location_base_pair Starts at 7621078 and ends at 7647219 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ARHGAP44 (17p12) / DNAH2 (17p13.1)CHD3 (17p13.1) / DNAH2 (17p13.1)DNAH2 (17p13.1) / SFTPB (2p11.2)
KDM6B (17p13.1) / DNAH2 (17p13.1)KIF1C (17p13.2) / DNAH2 (17p13.1)SENP3 (17p13.1) / DNAH2 (17p13.1)
TP53 (17p13.1) / DNAH2 (17p13.1)ARHGAP44 DNAH2KDM6B DNAH2

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)DNAH2   2948
Cards
Entrez_Gene (NCBI)DNAH2  146754  dynein, axonemal, heavy chain 2
AliasesDNAHC2; DNHD3
GeneCards (Weizmann)DNAH2
Ensembl hg19 (Hinxton)ENSG00000183914 [Gene_View]  chr17:7621078-7647219 [Contig_View]  DNAH2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000183914 [Gene_View]  chr17:7621078-7647219 [Contig_View]  DNAH2 [Vega]
ICGC DataPortalENSG00000183914
TCGA cBioPortalDNAH2
AceView (NCBI)DNAH2
Genatlas (Paris)DNAH2
WikiGenes146754
SOURCE (Princeton)DNAH2
Genetics Home Reference (NIH)DNAH2
Genomic and cartography
GoldenPath hg19 (UCSC)DNAH2  -     chr17:7621078-7647219 +  17p13.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)DNAH2  -     17p13.1   [Description]    (hg38-Dec_2013)
EnsemblDNAH2 - 17p13.1 [CytoView hg19]  DNAH2 - 17p13.1 [CytoView hg38]
Mapping of homologs : NCBIDNAH2 [Mapview hg19]  DNAH2 [Mapview hg38]
OMIM603333   
Gene and transcription
Genbank (Entrez)AB040936 AK128517 AK292607 BC034225 BQ638815
RefSeq transcript (Entrez)NM_001303270 NM_020877
RefSeq genomic (Entrez)NC_000017 NC_018928 NT_010718 NW_004929405
Consensus coding sequences : CCDS (NCBI)DNAH2
Cluster EST : UnigeneHs.367649 [ NCBI ]
CGAP (NCI)Hs.367649
Alternative Splicing GalleryENSG00000183914
Gene ExpressionDNAH2 [ NCBI-GEO ]   DNAH2 [ EBI - ARRAY_EXPRESS ]   DNAH2 [ SEEK ]   DNAH2 [ MEM ]
Gene Expression Viewer (FireBrowse)DNAH2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)146754
GTEX Portal (Tissue expression)DNAH2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9P225   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9P225  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9P225
Splice isoforms : SwissVarQ9P225
PhosPhoSitePlusQ9P225
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)DNAH2
DMDM Disease mutations146754
Blocks (Seattle)DNAH2
SuperfamilyQ9P225
Human Protein AtlasENSG00000183914
Peptide AtlasQ9P225
HPRD17214
IPIIPI00783464   IPI00651691   IPI00292777   
Protein Interaction databases
DIP (DOE-UCLA)Q9P225
IntAct (EBI)Q9P225
FunCoupENSG00000183914
BioGRIDDNAH2
STRING (EMBL)DNAH2
ZODIACDNAH2
Ontologies - Pathways
QuickGOQ9P225
Ontology : AmiGOcilium or flagellum-dependent cell motility  microtubule motor activity  ATP binding  axonemal dynein complex  microtubule  microtubule-based movement  metabolic process  metabolic process  ATPase activity  
Ontology : EGO-EBIcilium or flagellum-dependent cell motility  microtubule motor activity  ATP binding  axonemal dynein complex  microtubule  microtubule-based movement  metabolic process  metabolic process  ATPase activity  
Pathways : BIOCARTALissencephaly gene (LIS1) in neuronal migration and development [Genes]   
Pathways : KEGGHuntington's disease   
NDEx NetworkDNAH2
Atlas of Cancer Signalling NetworkDNAH2
Wikipedia pathwaysDNAH2
Orthology - Evolution
OrthoDB146754
GeneTree (enSembl)ENSG00000183914
Phylogenetic Trees/Animal Genes : TreeFamDNAH2
HOVERGENQ9P225
HOGENOMQ9P225
Homologs : HomoloGeneDNAH2
Homology/Alignments : Family Browser (UCSC)DNAH2
Gene fusions - Rearrangements
Fusion: TCGAARHGAP44 DNAH2
Fusion: TCGAKDM6B DNAH2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDNAH2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DNAH2
dbVarDNAH2
ClinVarDNAH2
1000_GenomesDNAH2 
Exome Variant ServerDNAH2
ExAC (Exome Aggregation Consortium)DNAH2 (select the gene name)
Genetic variants : HAPMAP146754
Genomic Variants (DGV)DNAH2 [DGVbeta]
DECIPHER (Syndromes)17:7621078-7647219  ENSG00000183914
CONAN: Copy Number AnalysisDNAH2 
Mutations
ICGC Data PortalDNAH2 
TCGA Data PortalDNAH2 
Broad Tumor PortalDNAH2
OASIS PortalDNAH2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDNAH2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDNAH2
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 DNAH2
DgiDB (Drug Gene Interaction Database)DNAH2
DoCM (Curated mutations)DNAH2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DNAH2 (select a term)
intoGenDNAH2
Cancer3DDNAH2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603333   
Orphanet
MedgenDNAH2
Genetic Testing Registry DNAH2
NextProtQ9P225 [Medical]
TSGene146754
GENETestsDNAH2
Huge Navigator DNAH2 [HugePedia]
snp3D : Map Gene to Disease146754
BioCentury BCIQDNAH2
ClinGenDNAH2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD146754
Chemical/Pharm GKB GenePA27401
Clinical trialDNAH2
Miscellaneous
canSAR (ICR)DNAH2 (select the gene name)
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDNAH2
EVEXDNAH2
GoPubMedDNAH2
iHOPDNAH2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:01:56 CET 2017

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