DYNC2H1 Gene

Aliases
for DYNC2H1 gene

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Previous GC identifers: GC11P102487 GC11P098908

Summaries
for DYNC2H1 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Genomic Views
for DYNC2H1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000011.9  NT_033899.9  NC_018922.2  

Browse SwitchGear Promoter luciferase reporter plasmids

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DYNC2H1

DYNC2H1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P102980:  view genomic region     (about GC identifiers)

Proteins
for DYNC2H1 gene

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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Explore the universe of human proteins at neXtProt for DYNC2H1: NX_Q8NCM8

Explore proteomics data for DYNC2H1 at MOPED

Post-translational modifications: 

DYNC2H1 Human Recombinant Protein Products:

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	antibodies-online kits for DYNC2H1 (3 products)

Domains /
Families
for DYNC2H1 gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: Q8NCM8

Find genes that share domains with DYNC2H1           About GenesLikeMe

Function
for DYNC2H1 gene

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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     Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

(inferred from 5 alleles) (MGI details for Dync2h1)

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DYNC2H1

Localization
for DYNC2H1 gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
cytoskeleton	5
golgi apparatus	5
plasma membrane	5
cytosol	4
extracellular	1
mitochondrion	1
nucleus	1

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Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

Pathways & Interactions
for DYNC2H1 gene

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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SuperPaths for DYNC2H1 About     See pathways by source

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	SuperPath	Contained pathways About
1	Class I MHC mediated antigen processing and presentation	Adaptive Immune System 0.41
2	Salmonella infection (KEGG)	Salmonella infection 0.30
3	Vasopressin-regulated water reabsorption	Vasopressin-regulated water reabsorption
4	Phagosome	Phagosome
5	MHC class II antigen presentation	MHC class II antigen presentation

1 Reactome Pathway for DYNC2H1

MHC class II antigen presentation

3 Kegg Pathways  (Kegg details for DYNC2H1)

	Phagosome
	Vasopressin-regulated water reabsorption
	Salmonella infection

Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

Drugs & Compounds
for DYNC2H1 gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
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Transcripts
for DYNC2H1 gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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Expression
for DYNC2H1 gene

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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DYNC2H1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TGGTCAGTCT

About this image

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for DYNC2H1
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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DYNC2H1

Orthologs
for DYNC2H1 gene

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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Paralogs
for DYNC2H1 gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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Paralogs for DYNC2H1 gene

DNAH5²  DNAH2²  DYNC1H1²  DNAH8²  DNAH9²  DNAH3²  DNAH11²  DNAH7²  

DNAH6²  DNAH1²  DNAH10²  DNAH17²  

8 SIMAP similar genes for DYNC2H1 using alignment to 4 protein entries:     DYHC2_HUMAN (see all proteins):

Dnchc1    DNAH5    Dnahc3    DNAH14    Dnahc9    Dnahc11

DNAH2    DNAH1

Find genes that share paralogs with DYNC2H1           About GenesLikeMe

Genomic Variants
for DYNC2H1 gene

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for DYNC2H1 (see all 8180)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
VAR_0695994		Asphyxiating thoracic dystrophy 3 (ATD3)4	--	see VAR_069599	2	G D	mis4		0	--	--	--	--
VAR_0632504		Asphyxiating thoracic dystrophy 3 (ATD3)4	--	see VAR_063250	2	D G	mis4		0	--	--	--	--
VAR_0632464		Short rib-polydactyly syndrome 3 (SRPS3)4	--	see VAR_063246	2	T A	mis4		0	--	--	--	--
VAR_0696004		Asphyxiating thoracic dystrophy 3 (ATD3)4	--	see VAR_069600	2	M K	mis4		0	--	--	--	--
VAR_0632514		Asphyxiating thoracic dystrophy 3 (ATD3)4	--	see VAR_063251	2	L V	mis4		0	--	--	--	--
VAR_0696034		Asphyxiating thoracic dystrophy 3 (ATD3)4	--	see VAR_069603	2	N S	mis4		0	--	--	--	--
VAR_0632434		Short rib-polydactyly syndrome 3 (SRPS3)4	--	see VAR_063243	2	R C	mis4		0	--	--	--	--
VAR_0632484		Short rib-polydactyly syndrome 3 (SRPS3)4	--	see VAR_063248	2	R H	mis4		0	--	--	--	--
VAR_0696074		Asphyxiating thoracic dystrophy 3 (ATD3)4	--	see VAR_069607	2	V M	mis4		0	--	--	--	--
VAR_0695944		Short rib-polydactyly syndrome 2B (SRPS2B)4	--	see VAR_069594	2	K R	mis4		0	--	--	--	--

HapMap Linkage Disequilibrium report for DYNC2H1 (102980160 - 103230160 bp, first 250kb of DYNC2H1)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for DYNC2H1 (see all 27):    About this table    

Variant ID	Type	Subtype	PubMed ID
esv4269	CNV	Deletion	18987735
esv2151015	CNV	Deletion	18987734
esv2508457	CNV	Deletion	19546169
esv2464518	CNV	Deletion	19546169
esv2660519	CNV	Deletion	23128226
esv2745007	CNV	Deletion	23290073
esv2745009	CNV	Deletion	23290073
esv270902	CNV	Insertion	20981092
esv274687	CNV	Insertion	20981092
esv995312	CNV	Insertion	20482838

Human Gene Mutation Database (HGMD): DYNC2H1

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing DYNC2H1

DNA2.0 Custom Variant and Variant Library Synthesis for DYNC2H1

Disorders / Diseases
for DYNC2H1 gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
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Publications
for DYNC2H1 gene

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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1. Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene. (PubMed id 9373155)^{1, 2, 3} Neesen J.... Schmid M. (Gene 1997)
2. Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. (PubMed id 19361615)^{1, 2, 9} Merrill A.E....Krakow D. (Am. J. Hum. Genet. 2009)
3. DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. (PubMed id 19442771)^{1, 2, 9} Dagoneau N.... Cormier-Daire V. (Am. J. Hum. Genet. 2009)
4. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. (PubMed id 23456818)^{1, 2} Schmidts M.... Mitchison H.M. (J. Med. Genet. 2013)
5. NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. (PubMed id 22499340)^{1, 2} El Hokayem J.... Cormier-Daire V. (J. Med. Genet. 2012)
6. Genome-wide interrogation identifies YAP1 variants associated with survival of small-cell lung cancer patients. (PubMed id 21118971)^{1, 4} Wu C....Lin D. (Cancer Res. 2010)
7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)^{1, 4} Rose J.E....Uhl G.R. (Mol. Med. 2010)
8. Genetic analysis of the cytoplasmic dynein subunit families. (PubMed id 16440056)^{1, 2} Pfister K.K.... Fisher E.M.C. (PLoS Genet. 2006)
9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 2004)
10. Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method. (PubMed id 12056414)^{1, 2} Ohara O.... Koseki H. (DNA Res. 2002)

External Searches for DYNC2H1 gene

Genome Databases showing DYNC2H1 gene

Other Databases showing DYNC2H1 gene

Specialized Databases showing DYNC2H1 gene

Products
for DYNC2H1 gene

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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