Set Analyses:
GeneALaCart
GeneDecks
VarElect
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 


DYNC2H1 Gene

protein-coding   GIFtS: 54
GCID: GC11P102980

Dynein, Cytoplasmic 2, Heavy Chain 1

(Previous names: dynein, cytoplasmic, heavy polypeptide 2)
(Previous symbol: DNCH2)
Pneumococci & Pneumococcal Diseases Congress
  See related diseases
at
MalaCards
 

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)
About This Section

TryGeneCards Plus
Aliases
Dynein, Cytoplasmic 2, Heavy Chain 11 2     SRTD32 5
DNCH21 2 3 5     DHC1b2
DHC22 3 5     Cytoplasmic Dynein 2 Heavy Chain 12
Dynein, Cytoplasmic, Heavy Polypeptide 21 2     Dynein Heavy Chain, Isotype 1B2
Dynein Cytoplasmic Heavy Chain 22 3     hdhc112
Dynein Heavy Chain 112 3     DHC1B3
Dynein Heavy Chain Isotype 1B2 3     KIAA19973
DYH1B2 3     Cytoplasmic Dynein 2 Heavy Chain3
ATD32 5     hDHC113
SRPS2B2 5     

External Ids:    HGNC: 29621   Entrez Gene: 796592   Ensembl: ENSG000001872407   OMIM: 6032975   UniProtKB: Q8NCM83   

Export aliases for DYNC2H1 gene to outside databases

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)
About This Section

TryGeneCards Plus
Entrez Gene summary for DYNC2H1 Gene:
This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and
has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene
cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve
polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript
variants encoding distinct proteins. (provided by RefSeq, Jan 2010)

GeneCards Summary for DYNC2H1 Gene:
DYNC2H1 (dynein, cytoplasmic 2, heavy chain 1) is a protein-coding gene. Diseases associated with DYNC2H1 include asphyxiating thoracic dystrophy 3, and short rib-polydactyly syndrome type 3. GO annotations related to this gene include motor activity and ATPase activity. An important paralog of this gene is DNAH5.

UniProtKB/Swiss-Prot: DYHC2_HUMAN, Q8NCM8
Function: May function as a motor for intraflagellar retrograde transport. Functions in cilia biogenesis. May play
a role in transport between endoplasmic reticulum and Golgi or organization of the Golgi in cells (By similarity)

Gene Wiki entry for DYNC2H1 Gene


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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000011.10  NT_033899.9  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DYNC2H1 gene promoter:
         c-Fos   AP-1   ATF-2   NF-AT   CRE-BP1   CREB   NF-AT2   c-Jun   NF-AT1   RSRFC4   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for DYNC2H1

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


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q21-q22.1   Ensembl cytogenetic band:  11q22.3   HGNC cytogenetic band: 11q21-q22.1

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

GeneLoc information about chromosome 11         GeneLoc Exon Structure

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

Start:
 102,980,160 bp from pter      End:
 103,350,591 bp from pter
Size:
 370,432 bases      Orientation:
 plus strand

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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

TryGeneCards Plus
UniProtKB/Swiss-Prot: DYHC2_HUMAN, Q8NCM8 (See protein sequence)
Recommended Name: Cytoplasmic dynein 2 heavy chain 1  
Size: 4307 amino acids; 492622 Da
Subunit: The cytoplasmic dynein complex 2 is probably composed by a heavy chain DYNC2H1 homodimer and a number of
DYNC2LI1 light intermediate chains (By similarity)
Sequence caution: Sequence=BAB13905.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAC04578.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAD18598.1;
Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: O00432 Q16693 Q3C1U8 Q4AC93 Q6ZMX7 Q6ZUM6 Q7Z363 Q8N977 Q92815 Q9HAE4
Alternative splicing: 3 isoforms:  Q8NCM8-1   Q8NCM8-2   Q8NCM8-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DYNC2H1: NX_Q8NCM8

Explore proteomics data for DYNC2H1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

    • See DYNC2H1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001073932.1  NP_001368.2  

    ENSEMBL proteins: 
     ENSP00000364887   ENSP00000334021   ENSP00000381167   ENSP00000433451   ENSP00000436736  
    Reactome Protein details: Q8NCM8

    DYNC2H1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for DYNC2H1
    GenScript Custom Purified and Recombinant Proteins Services for DYNC2H1
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DYNC2H1

    DYNC2H1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for DYNC2H1
    Novus Biologicals DYNC2H1 Antibody
    Abcam antibodies for DYNC2H1
    Cloud-Clone Corp. Antibodies for DYNC2H1
    Search ThermoFisher Antibodies for DYNC2H1
    Search LSBio for Antibodies for DYNC2H1

    DYNC2H1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for DYNC2H1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for DYNC2H1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for DYNC2H1
    Cloud-Clone Corp. CLIAs for DYNC2H1

    Domains /
    Families
    for DYNC2H1 gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus    		 HGNC Gene Families:
    DYN: Cytoplasmic dyneins

    Selected InterPro protein domains (see all 10):
     IPR004273 Dynein_heavy_dom
     IPR011704 ATPase_dyneun-rel_AAA
     IPR013602 Dynein_heavy_dom-2
     IPR027417 P-loop_NTPase
     IPR013594 Dynein_heavy_dom-1

    Graphical View of Domain Structure for InterPro Entry Q8NCM8

    ProtoNet protein and cluster: Q8NCM8

    UniProtKB/Swiss-Prot: DYHC2_HUMAN, Q8NCM8
    Similarity: Belongs to the dynein heavy chain family


    DYNC2H1 for domains           About GeneDecksing


    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, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus
    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DYHC2_HUMAN, Q8NCM8
    Function: May function as a motor for intraflagellar retrograde transport. Functions in cilia biogenesis. May play
    a role in transport between endoplasmic reticulum and Golgi or organization of the Golgi in cells (By similarity)

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0003774motor activity NAS8666668
    GO:0003777microtubule motor activity IEA--
    GO:0005524ATP binding IEA--
    GO:0016887ATPase activity IEA--
         
    DYNC2H1 for ontologies           About GeneDecksing


    Phenotypes:
         12 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Dync2h1):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  embryogenesis 
     limbs/digits/tail  mortality/aging  nervous system  renal/urinary system  respiratory system 
     skeleton  vision/eye 

    DYNC2H1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DYNC2H1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DYNC2H1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DYNC2H1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DYNC2H1

    miRNA
    Products:            		miRTarBase miRNAs that target DYNC2H1:
    hsa-mir-331-3p (MIRT043435), hsa-mir-124-3p (MIRT022185), hsa-mir-155-5p (MIRT020503), hsa-let-7a-5p (MIRT052554), hsa-mir-125b-5p (MIRT045954)

    Block miRNA regulation of human, mouse, rat DYNC2H1 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate DYNC2H1:
    hsa-miR-607 hsa-miR-9*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:            		OriGene RNAi products in human, mouse, rat for DYNC2H1
    Predesigned siRNA for gene silencing in human, mouse, rat DYNC2H1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for DYNC2H1

    Clone
    Products:             		 OriGene clones in human, mouse for DYNC2H1
    OriGene ORF clones in mouse, rat for DYNC2H1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): DYNC2H1 (NM_001080463)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DYNC2H1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat DYNC2H1

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for DYNC2H1
    Browse ESI BIO Cell Lines and PureStem Progenitors for DYNC2H1 
    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.)
    About This Section

    TryGeneCards Plus
    Subcellular locations from UniProtKB/Swiss-Prot
    DYHC2_HUMAN, Q8NCM8: Cytoplasm, cytoskeleton, cilium axoneme (By similarity). Cell membrane; Peripheral membrane
    protein (By similarity). Cytoplasm (By similarity). Note=Localizes to the apical cytoplasm (By similarity).
    According to PubMed:8666668, it localizes to Golgi apparatus, cytoplasmic vesicle and endoplasmic reticulum
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    golgi apparatus5
    plasma membrane5
    cytosol4
    extracellular1
    mitochondrion1
    nucleus1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005794Golgi apparatus IDA8666668
    GO:0005829cytosol TAS--
    GO:0005874microtubule IDA--
    GO:0005886plasma membrane IEA--
    GO:0030286dynein complex IEA--

    DYNC2H1 for ontologies           About GeneDecksing


    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 GeneDecks, 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).
    About This Section

    TryGeneCards Plus

    SuperPaths for DYNC2H1 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Class I MHC mediated antigen processing and presentation
    		Adaptive Immune System0.41
    2Cytoplasmic microtubules
    		Cytoplasmic microtubules0.32
    3Salmonella infection (KEGG)
    		Salmonella infection0.30
    4Vasopressin-regulated water reabsorption
    		Vasopressin-regulated water reabsorption
    5Phagosome
    		Phagosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for DYNC2H1
        MHC class II antigen presentation


    3 Kegg Pathways  (Kegg details for DYNC2H1):
        Phagosome
    Vasopressin-regulated water reabsorption
    Salmonella infection


    DYNC2H1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DYNC2H1
    Interactions:

        Search GeneGlobe Interaction Network for DYNC2H1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for DYNC2H1 (Q8NCM83 ENSP000003811674) via UniProtKB, MINT, STRING, and/or I2D (see all 79)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DYNC2LI1Q8TCX13, ENSP000002606054I2D: score=2 STRING: ENSP00000260605
    SHBQ154643I2D: score=1 
    USP50Q70EL33I2D: score=1 
    DCTN1ENSP000003547914STRING: ENSP00000354791
    DCTN2ENSP000004089104STRING: ENSP00000408910
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001539cilium or flagellum-dependent cell motility IEA--
    GO:0007018microtubule-based movement IEA--
    GO:0007030Golgi organization IDA8666668
    GO:0007368determination of left/right symmetry IEA--
    GO:0008105asymmetric protein localization IEA--

    DYNC2H1 for ontologies           About GeneDecksing



    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)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DYNC2H1 (DYHC2)



    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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus
    REFSEQ mRNAs for DYNC2H1 gene (3 alternative transcripts): 
    NM_001080463.1  NM_001377.2  NM_024606.2  

    Unigene Cluster for DYNC2H1:

    Dynein, cytoplasmic 2, heavy chain 1
    Hs.503721  [show with all ESTs]
    Unigene Representative Sequence: NM_001080463
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000375735(uc001phn.1 uc001pho.2 uc009yxe.1) ENST00000334267
    ENST00000398093 ENST00000533027 ENST00000525306 ENST00000528670 ENST00000533197
    ENST00000530547 ENST00000527252

    miRNA
    Products:             		 Block miRNA regulation of human, mouse, rat DYNC2H1 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate DYNC2H1:
    hsa-miR-607 hsa-miR-9*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:             		OriGene RNAi products in human, mouse, rat for DYNC2H1
    Predesigned siRNA for gene silencing in human, mouse, rat DYNC2H1
    Clone
    Products:             		 OriGene clones in human, mouse for DYNC2H1
    OriGene ORF clones in mouse, rat for DYNC2H1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): DYNC2H1 (NM_001080463)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DYNC2H1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat DYNC2H1
    Primer
    Products:            		OriGene qSTAR qPCR primer pairs in human, mouse for DYNC2H1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DYNC2H1
      QuantiTect SYBR Green Assays in human, mouse, rat DYNC2H1
      QuantiFast Probe-based Assays in human, mouse, rat DYNC2H1

    Additional mRNA sequence: 

    AB082528.2 AB231765.1 AB231766.1 AB290167.1 AF288405.1 AK021818.1 AK095579.1 AK125524.1 
    AK131453.1 BC038344.1 BX538093.1 BX649161.1 U20552.1 U53531.1 Z83800.1 

    6 DOTS entries:

    DT.40194787  DT.209797  DT.100693366  DT.95278970  DT.97770434  DT.101981168 

    5 AceView cDNA sequences:

    U20552 R64727 R64728 U53531 Z83800 

    GeneLoc Exon Structure


    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 GeneDecks, 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)
    About This Section

    TryGeneCards Plus

    DYNC2H1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGTCAGTCT
    DYNC2H1 Expression
    About this image

    DYNC2H1 Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    DYNC2H1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.503721
        Custom PCR Arrays for DYNC2H1
    Primer
    Products:    		OriGene qSTAR qPCR primer pairs in human, mouse for DYNC2H1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DYNC2H1
    QuantiTect SYBR Green Assays in human, mouse, rat DYNC2H1
    QuantiFast Probe-based Assays in human, mouse, rat DYNC2H1
    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)
    About This Section

    TryGeneCards Plus
    This gene was present in the common ancestor of animals and fungi.

    Orthologs for DYNC2H1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Dync2h11 , 5 dynein cytoplasmic 2 heavy chain 11, 5 87.1(n)1
    93.36(a)1    		   9 (2.46 cM)5
    1103501  NM_029851.21  NP_084127.21 
     69285035 
    chicken
    (Gallus gallus)    		 Aves DYNC2H11 dynein, cytoplasmic 2, heavy chain 1 77.42(n)
    79.78(a)    		   418979  XM_004938837.1  XP_004938894.1 
    lizard
    (Anolis carolinensis)    		 Reptilia DYNC2H16
    		 dynein, cytoplasmic 2, heavy chain 1
    		 82(a)
    		 1 ↔ 1
    		 3(191759795-191949787)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia dync2h11 dynein, cytoplasmic 2, heavy chain 1 72.24(n)
    76.7(a)    		   100380107  XM_002934933.2  XP_002934979.2 
    zebrafish
    (Danio rerio)    		 Actinopterygii BI864255.12   -- 73.63(n)    BI864255.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta btv6
    		 beethoven
    		 33(a)
    		 1 ↔ 1
    		 2L(17962735-17982472)
    worm
    (Caenorhabditis elegans)    		 Secernentea che-31 che-3 51.7(n)
    42.17(a)    		   172593  NM_059820.2  NP_492221.2 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes DYN16
    		 Cytoplasmic heavy chain dynein, microtubule motor ...
    		 21(a)
    		 1 → many
    		 XI(535647-547925) YKR054C


    ENSEMBL Gene Tree for DYNC2H1 (if available)
    TreeFam Gene Tree for DYNC2H1 (if available)

    Paralogs
    for DYNC2H1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    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

    DYNC2H1 for paralogs           About GeneDecksing



    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)
    About This Section

    TryGeneCards Plus
    Selected SNPs for DYNC2H1 (see all 8180)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 11 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    VAR_0695994
    		Asphyxiating thoracic dystrophy 3 (ATD3)4--see VAR_0695992 G D mis40--------
    VAR_0632504
    		Asphyxiating thoracic dystrophy 3 (ATD3)4--see VAR_0632502 D G mis40--------
    VAR_0632464
    		Short rib-polydactyly syndrome 3 (SRPS3)4--see VAR_0632462 T A mis40--------
    VAR_0696004
    		Asphyxiating thoracic dystrophy 3 (ATD3)4--see VAR_0696002 M K mis40--------
    VAR_0632514
    		Asphyxiating thoracic dystrophy 3 (ATD3)4--see VAR_0632512 L V mis40--------
    VAR_0696034
    		Asphyxiating thoracic dystrophy 3 (ATD3)4--see VAR_0696032 N S mis40--------
    VAR_0632434
    		Short rib-polydactyly syndrome 3 (SRPS3)4--see VAR_0632432 R C mis40--------
    VAR_0632484
    		Short rib-polydactyly syndrome 3 (SRPS3)4--see VAR_0632482 R H mis40--------
    VAR_0696074
    		Asphyxiating thoracic dystrophy 3 (ATD3)4--see VAR_0696072 V M mis40--------
    VAR_0695944
    		Short rib-polydactyly syndrome 2B (SRPS2B)4--see VAR_0695942 K R mis40--------

    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 IDTypeSubtypePubMed ID
    esv4269CNV Deletion18987735
    esv2151015CNV Deletion18987734
    esv2508457CNV Deletion19546169
    esv2464518CNV Deletion19546169
    esv2660519CNV Deletion23128226
    esv2745007CNV Deletion23290073
    esv2745009CNV Deletion23290073
    esv270902CNV Insertion20981092
    esv274687CNV Insertion20981092
    esv995312CNV Insertion20482838

    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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 603297   
    OMIM disorders: 613091  
    UniProtKB/Swiss-Prot: DYHC2_HUMAN, Q8NCM8
  • Asphyxiating thoracic dystrophy 3 (ATD3) [MIM:613091]: An autosomal recessive chondrodysplasia
    characterized by a severely constricted thoracic cage, short-limbed short stature, and polydactyly. It often
    leads to death in infancy because of respiratory insufficiency. Retinal degeneration, cystic renal disease and
    hepatic disease can be present in affected individuals who survive early childhood. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Short rib-polydactyly syndrome 3 (SRPS3) [MIM:263510]: A lethal skeletal dysplasia characterized by
    markedly short ribs, short limbs, polydactyly, narrow thorax, and multiple anomalies of major organs, including
    heart, intestines, genitalia, kidney, liver, and pancreas. Note=The disease is caused by mutations affecting the
    gene represented in this entry
  • Short rib-polydactyly syndrome 2B (SRPS2B) [MIM:615087]: A lethal skeletal dysplasia characterized by
    markedly short ribs, short limbs, polydactyly, and multiple anomalies including a narrow thorax with hypoplastic
    lungs, extreme polysyndactyly, dysproportionate dwarfism, median cleft lip and palate, a ventriculoseptal defect
    and cystic kidneys. The radiographic hallmarks include shortened and horizontal ribs, squared scapulae and
    elevated clavicles with lateral kinking, normal spine and pelvis configuration, and shortening of the bones of
    all four extremities, with extreme reduction of tibial bone length. Note=The disease is caused by mutations
    affecting the gene represented in this entry. In some cases DYNC2H1 mutations result in disease phenotype in the
    presence of mutations in NEK1 indicating digenic inheritance (short rib-polydactyly syndrome 2A/B)
    (PubMed:21211617)

    • Selected diseases for DYNC2H1 (see all 21):    
    About MalaCards
    asphyxiating thoracic dystrophy 3    short rib-polydactyly syndrome type 3    short rib-polydactyly syndrome    short rib-polydactyly syndrome, type iib
    short rib-polydactyly syndrome, type iia    polydactyly    asphyxiating thoracic dystrophy    asphyxiating thoracic dystrophy 2
    ellis-van creveld syndrome    sensenbrenner syndrome    osteochondrodysplasia    primary ciliary dyskinesia
    skeletal dysplasias    malignant glioma    coronary artery disease    retinitis
    lung cancer    hiv-1    multiple myeloma    myeloma

    3 diseases from the University of Copenhagen DISEASES database for DYNC2H1:
    Asphyxiating thoracic dystrophy     Polydactyly     Sensenbrenner syndrome

    DYNC2H1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Genetic Association Database (GAD): DYNC2H1
    Human Genome Epidemiology (HuGE) Navigator: DYNC2H1 (2 documents)

    Export disorders for DYNC2H1 gene to outside databases

    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)
    About This Section

    TryGeneCards Plus
    PubMed articles for DYNC2H1 gene, integrated from 10 sources (see all 40):
    (articles sorted by number of sources associating them with DYNC2H1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    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

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing DYNC2H1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 79659 HGNC: 2962 AceView: DNCH2.2 Ensembl:ENSG00000187240 euGenes: HUgn79659
    ECgene: DYNC2H1 Kegg: 79659 H-InvDB: DYNC2H1

    Other Databases showing DYNC2H1 gene

    (According to HUGE)
    About This Section

    TryGeneCards Plus
    HUGE: KIAA1997

    Specialized Databases showing DYNC2H1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for DYNC2H1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for DYNC2H1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus    		Patent Information for DYNC2H1 gene:
    Search GeneIP for patents involving DYNC2H1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    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, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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 inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus
     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for DYNC2H1  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for DYNC2H1  
     OriGene qSTAR qPCR primer pairs in human, mouse for DYNC2H1   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for DYNC2H1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for DYNC2H1   OriGene Custom Protein Services for DYNC2H1  

         		 
     Block miRNA regulation of human, mouse, rat DYNC2H1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing DYNC2H1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DYNC2H1 Predesigned siRNA for gene silencing in human, mouse, rat DYNC2H1
     QuantiFast Probe-based Assays in human, mouse, rat DYNC2H1 QuantiTect SYBR Green Assays in human, mouse, rat DYNC2H1
     Custom PCR Arrays for DYNC2H1 Search Chromatin IP Primers for DYNC2H1
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DYNC2H1  Search GeneGlobe Interaction Network for DYNC2H1
     Regulatory tfbs in DYNC2H1 promoter
     GenScript Custom Purified and Recombinant Proteins Services for DYNC2H1 GenScript cDNA clones with any tag delivered in your preferred vector for DYNC2H1
     GenScript Custom Assay Services for DYNC2H1 GenScript Custom overexpressing Cell Line Services for DYNC2H1
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for DYNC2H1 (DYHC2)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     DYNC2H1 antibodies
     Antibodies for DYNC2H1
     See all of Abcam's Antibodies, Kits and Proteins for DYNC2H1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for DYNC2H1
     Antibodies for DYNC2H1
     ELISAs for DYNC2H1
     CLIAs for DYNC2H1



     Browse ESI BIO Cell Lines and PureStem Progenitors for DYNC2H1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DYNC2H1
     Browse SwitchGear 3'UTR luciferase reporter plasmids for DYNC2H1
     Browse SwitchGear Promoter luciferase reporter plasmids for DYNC2H1
     Search ThermoFisher Antibodies for DYNC2H1
     Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat DYNC2H1
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DYNC2H1
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DYNC2H1
     Search LSBio for Antibodies for DYNC2H1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Copyright © 1996-2014 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      DYNC2H1 gene at Home site.
    Version: 3.12.142 28 July 2014
    hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4