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DYNC2H1 (dynein cytoplasmic 2 heavy chain 1)

Identity

Alias (NCBI)ATD3
DHC1b
DHC2
DNCH2
DYH1B
SRPS2B
SRTD3
hdhc11
HGNC (Hugo) DYNC2H1
HGNC Alias symbhdhc11
DHC2
DHC1b
DYH1B
HGNC Previous nameDNCH2
HGNC Previous namedynein, cytoplasmic, heavy polypeptide 2
LocusID (NCBI) 79659
Atlas_Id 46142
Location 11q22.3  [Link to chromosome band 11q22]
Location_base_pair Starts at 103109426 and ends at 103479863 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)
DBF4B (17q21.31) / DYNC2H1 (11q22.3)DYNC2H1 (11q22.3) / C11orf70 (11q22.1)DYNC2H1 (11q22.3) / CNTN5 (11q22.1)
DYNC2H1 (11q22.3) / PUM1 (1p35.2)HINT1 (5q23.3) / DYNC2H1 (11q22.3)NCKAP5 (2q21.2) / DYNC2H1 (11q22.3)
RNF144A (2p25.2) / DYNC2H1 (11q22.3)USP11 (Xp11.23) / DYNC2H1 (11q22.3)DBF4B 17q21.31 / DYNC2H1 11q22.3
DYNC2H1 11q22.3 / C11orf70 11q22.1NCKAP5 2q21.2 / DYNC2H1 11q22.3

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(2;11)(q21;q22) NCKAP5/DYNC2H1
TMEM123/DYNC2H1 (11q22)
t(11;17)(q22;q21) DBF4B/DYNC2H1

External links

Nomenclature
HGNC (Hugo)DYNC2H1   2962
Cards
Entrez_Gene (NCBI)DYNC2H1  79659  dynein cytoplasmic 2 heavy chain 1
AliasesATD3; DHC1b; DHC2; DNCH2; 
DYH1B; SRPS2B; SRTD3; hdhc11
GeneCards (Weizmann)DYNC2H1
Ensembl hg19 (Hinxton)ENSG00000187240 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000187240 [Gene_View]  ENSG00000187240 [Sequence]  chr11:103109426-103479863 [Contig_View]  DYNC2H1 [Vega]
ICGC DataPortalENSG00000187240
TCGA cBioPortalDYNC2H1
AceView (NCBI)DYNC2H1
Genatlas (Paris)DYNC2H1
WikiGenes79659
SOURCE (Princeton)DYNC2H1
Genetics Home Reference (NIH)DYNC2H1
Genomic and cartography
GoldenPath hg38 (UCSC)DYNC2H1  -     chr11:103109426-103479863 +  11q22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DYNC2H1  -     11q22.3   [Description]    (hg19-Feb_2009)
GoldenPathDYNC2H1 - 11q22.3 [CytoView hg19]  DYNC2H1 - 11q22.3 [CytoView hg38]
ImmunoBaseENSG00000187240
genome Data Viewer NCBIDYNC2H1 [Mapview hg19]  
OMIM603297   613091   
Gene and transcription
Genbank (Entrez)AB082528 AB231765 AB231766 AB290167 AF288405
RefSeq transcript (Entrez)NM_001080463 NM_001377 NM_024606
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DYNC2H1
Alternative Splicing GalleryENSG00000187240
Gene ExpressionDYNC2H1 [ NCBI-GEO ]   DYNC2H1 [ EBI - ARRAY_EXPRESS ]   DYNC2H1 [ SEEK ]   DYNC2H1 [ MEM ]
Gene Expression Viewer (FireBrowse)DYNC2H1 [ Firebrowse - Broad ]
GenevisibleExpression of DYNC2H1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79659
GTEX Portal (Tissue expression)DYNC2H1
Human Protein AtlasENSG00000187240-DYNC2H1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NCM8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NCM8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NCM8
Splice isoforms : SwissVarQ8NCM8
PhosPhoSitePlusQ8NCM8
Domains : Interpro (EBI)AAA+_ATPase    AAA_6    AAA_9    AAA_lid_11    AAA_lid_11_sf    Dynein_2_C    Dynein_2_N    Dynein_C    Dynein_HC_stalk    Dynein_heavy_chain_D4_dom    Dynein_heavy_D6_P-loop    Dynein_heavy_dom-1    Dynein_heavy_dom-2    P-loop_NTPase   
Domain families : Pfam (Sanger)AAA_6 (PF12774)    AAA_8 (PF12780)    AAA_9 (PF12781)    AAA_lid_11 (PF18198)    DHC_N1 (PF08385)    DHC_N2 (PF08393)    Dynein_C (PF18199)    Dynein_heavy (PF03028)    MT (PF12777)   
Domain families : Pfam (NCBI)pfam12774    pfam12780    pfam12781    pfam18198    pfam08385    pfam08393    pfam18199    pfam03028    pfam12777   
Domain families : Smart (EMBL)AAA (SM00382)  
Conserved Domain (NCBI)DYNC2H1
DMDM Disease mutations79659
Blocks (Seattle)DYNC2H1
PDB (RSDB)4RH7   
PDB Europe4RH7   
PDB (PDBSum)4RH7   
PDB (IMB)4RH7   
Structural Biology KnowledgeBase4RH7   
SCOP (Structural Classification of Proteins)4RH7   
CATH (Classification of proteins structures)4RH7   
SuperfamilyQ8NCM8
Human Protein Atlas [tissue]ENSG00000187240-DYNC2H1 [tissue]
Peptide AtlasQ8NCM8
IPIIPI00788188   IPI00171494   IPI00885216   IPI01013608   IPI00980671   IPI00982436   
Protein Interaction databases
DIP (DOE-UCLA)Q8NCM8
IntAct (EBI)Q8NCM8
FunCoupENSG00000187240
BioGRIDDYNC2H1
STRING (EMBL)DYNC2H1
ZODIACDYNC2H1
Ontologies - Pathways
QuickGOQ8NCM8
Ontology : AmiGOmotor activity  ATP binding  Golgi apparatus  cytoplasmic dynein complex  cytoplasmic dynein complex  microtubule  plasma membrane  cilium  axoneme  microtubule-based movement  Golgi organization  determination of left/right symmetry  ATP-dependent microtubule motor activity, minus-end-directed  dorsal/ventral pattern formation  protein processing  spinal cord motor neuron differentiation  dynein complex  embryonic limb morphogenesis  forebrain development  motile cilium  intraciliary retrograde transport  intraciliary transport involved in cilium assembly  apical part of cell  dynein intermediate chain binding  positive regulation of smoothened signaling pathway  dynein light intermediate chain binding  cilium assembly  coronary vasculature development  protein localization to cilium  extracellular exosome  ciliary tip  non-motile cilium assembly  
Ontology : EGO-EBImotor activity  ATP binding  Golgi apparatus  cytoplasmic dynein complex  cytoplasmic dynein complex  microtubule  plasma membrane  cilium  axoneme  microtubule-based movement  Golgi organization  determination of left/right symmetry  ATP-dependent microtubule motor activity, minus-end-directed  dorsal/ventral pattern formation  protein processing  spinal cord motor neuron differentiation  dynein complex  embryonic limb morphogenesis  forebrain development  motile cilium  intraciliary retrograde transport  intraciliary transport involved in cilium assembly  apical part of cell  dynein intermediate chain binding  positive regulation of smoothened signaling pathway  dynein light intermediate chain binding  cilium assembly  coronary vasculature development  protein localization to cilium  extracellular exosome  ciliary tip  non-motile cilium assembly  
Pathways : KEGGPhagosome    Vasopressin-regulated water reabsorption    Salmonella infection   
NDEx NetworkDYNC2H1
Atlas of Cancer Signalling NetworkDYNC2H1
Wikipedia pathwaysDYNC2H1
Orthology - Evolution
OrthoDB79659
GeneTree (enSembl)ENSG00000187240
Phylogenetic Trees/Animal Genes : TreeFamDYNC2H1
HOGENOMQ8NCM8
Homologs : HomoloGeneDYNC2H1
Homology/Alignments : Family Browser (UCSC)DYNC2H1
Gene fusions - Rearrangements
Fusion : MitelmanDBF4B/DYNC2H1 [17q21.31/11q22.3]  
Fusion : MitelmanDYNC2H1/C11orf70 [11q22.3/11q22.1]  
Fusion : MitelmanNCKAP5/DYNC2H1 [2q21.2/11q22.3]  
Fusion PortalDBF4B 17q21.31 DYNC2H1 11q22.3 BRCA
Fusion PortalDYNC2H1 11q22.3 C11orf70 11q22.1 BLCA
Fusion PortalNCKAP5 2q21.2 DYNC2H1 11q22.3 LGG
Fusion : QuiverDYNC2H1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDYNC2H1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DYNC2H1
dbVarDYNC2H1
ClinVarDYNC2H1
MonarchDYNC2H1
1000_GenomesDYNC2H1 
Exome Variant ServerDYNC2H1
GNOMAD BrowserENSG00000187240
Varsome BrowserDYNC2H1
Genetic variants : HAPMAP79659
Genomic Variants (DGV)DYNC2H1 [DGVbeta]
DECIPHERDYNC2H1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDYNC2H1 
Mutations
ICGC Data PortalDYNC2H1 
TCGA Data PortalDYNC2H1 
Broad Tumor PortalDYNC2H1
OASIS PortalDYNC2H1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDYNC2H1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DDYNC2H1
Mutations and Diseases : HGMDDYNC2H1
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 DYNC2H1
DgiDB (Drug Gene Interaction Database)DYNC2H1
DoCM (Curated mutations)DYNC2H1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DYNC2H1 (select a term)
intoGenDYNC2H1
Cancer3DDYNC2H1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603297    613091   
Orphanet283    12214    12212   
DisGeNETDYNC2H1
MedgenDYNC2H1
Genetic Testing Registry DYNC2H1
NextProtQ8NCM8 [Medical]
TSGene79659
GENETestsDYNC2H1
Target ValidationDYNC2H1
Huge Navigator DYNC2H1 [HugePedia]
snp3D : Map Gene to Disease79659
BioCentury BCIQDYNC2H1
ClinGenDYNC2H1
Clinical trials, drugs, therapy
Protein Interactions : CTD79659
Pharm GKB GenePA27433
Clinical trialDYNC2H1
Miscellaneous
canSAR (ICR)DYNC2H1 (select the gene name)
HarmonizomeDYNC2H1
DataMed IndexDYNC2H1
Probes
Litterature
PubMed56 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDYNC2H1
EVEXDYNC2H1
GoPubMedDYNC2H1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 14 14:09:33 CEST 2020
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