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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DYNC2H1 Gene

protein-coding   GIFtS: 53
GCID: GC11P102980

dynein, cytoplasmic 2, heavy chain 1

(Previous names: dynein, cytoplasmic, heavy polypeptide 2 )
(Previous symbol: DNCH2)
 Explore 13 diseases affiliated with
DYNC2H1 via our new
 Human Malady Compendium 
Biological research products
for DYNC2H1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Dynein, Cytoplasmic 2, Heavy Chain 11 2     Dynein Heavy Chain Isotype 1B2 3
DHC21 2 3 5     ATD32 5
DNCH21 2 3 5     SRPS2B2
DYH1B1 2 3     Cytoplasmic Dynein 2 Heavy Chain 12
DHC1b1 2     Dynein Heavy Chain, Isotype 1B2
Dynein, Cytoplasmic, Heavy Polypeptide 21 2     DHC1B3
Hdhc111     KIAA19973
Dynein Cytoplasmic Heavy Chain 22 3     Cytoplasmic Dynein 2 Heavy Chain3
Dynein Heavy Chain 112 3     HDHC111

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


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DYNC2H1:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_033899.8  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for DYNC2H1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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)
Subcellular location: 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
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8NCM8

  • DYNC2H1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000364887   ENSP00000334021   ENSP00000381167   ENSP00000433451   ENSP00000436736  
    Reactome Protein details: Q8NCM8
    Human Recombinant Protein Products: 
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    Uscn Proteins for DYNC2H1

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (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



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    Uscn ELISAs and CLIAs for DYNC2H1


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

    DYNC2H1 for domains           About GeneDecksing

    5/9 InterPro domains/families (see all 9):
     IPR004273 Dynein_heavy_dom
     IPR011704 ATPase_dyneun-rel_AAA
     IPR013602 Dynein_heavy_dom-2
     IPR013594 Dynein_heavy_dom-1
     IPR024317 Dynein_heavy_chain_D4_dom

    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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)

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    hsa-miR-607 hsa-miR-9*
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    Inhib. RNA
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003774motor activity NAS8666668
    GO:0003777microtubule motor activity IEA--
    GO:0005524ATP binding IEA--
    GO:0016887ATPase activity IEA--


    DYNC2H1 for ontologies           About GeneDecksing


    Animal Models:
         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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Immune System
    Immune System1.00
    Adaptive Immune System0.59
    2MHC class II antigen presentation
    MHC class II antigen presentation1.00
    Transport of antigen loaded MHC II molecules to surface0.59
    3Vasopressin-regulated water reabsorption
    Vasopressin-regulated water reabsorption1.00
    4Phagosome
    Phagosome1.00
    5Cytoskeleton remodeling Neurofilaments
    Cytoplasmic microtubules0.32

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for DYNC2H1
        Cytoplasmic microtubules


    4        Reactome Pathways for DYNC2H1
        Transport of antigen loaded MHC II molecules to surface
    Adaptive Immune System
    Immune System
    MHC class II antigen presentation


    2         Kegg Pathways  (Kegg details for DYNC2H1):
        Phagosome
    Vasopressin-regulated water reabsorption


    DYNC2H1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DYNC2H1

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

    5/61 Interacting proteins for DYNC2H1 (Q8NCM83 ENSP000003811674) via UniProtKB, MINT, STRING, and/or I2D (see all 61)
    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): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001539ciliary or flagellar motility IEA--
    GO:0007018microtubule-based movement IEA--
    GO:0007030Golgi organization IDA8666668
    GO:0007275multicellular organismal development ----
    GO:0007368determination of left/right symmetry IEA--


    DYNC2H1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DYNC2H1
    Search CenterWatch for drugs/clinical trials and news about DYNC2H1 / DYHC2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

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    Additional cDNA 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 U53531 R64727 R64728 Z83800 

    GeneLoc Exon Structure


    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DYNC2H1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGGTCAGTCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See DYNC2H1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DYNC2H1

    SOURCE GeneReport for Unigene cluster: Hs.503721
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DYNC2H1

    (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

    This gene was present in the common ancestor of animals.

    Orthologs for DYNC2H1 gene from 5/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves DYNC2H11 dynein, cytoplasmic 2, heavy chain 1 77.48(n)
    79.89(a)
      418979  XM_417173.3  XP_417173.2 
    lizard
    (Anolis carolinensis)
    Reptilia DYNC2H16
    --
    85(a)
    1 ↔ 1
    3(191763083-191921617)
    zebrafish
    (Danio rerio)
    Actinopterygii BI864255.12   -- 73.63(n)    BI864255.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta btv6
    beethoven
    32(a)
    1 ↔ 1
    2L(17962735-17982472)
    worm
    (Caenorhabditis elegans)
    Secernentea che-31 Protein CHE-3 51.6(n)
    42(a)
      172593  NM_059820.2  NP_492221.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DYNC2H1 gene
    DNAH52  DNAH22  DNAH82  DYNC1H12  DNAH92  DNAH32  DNAH112  DNAH62  
    DNAH72  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



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/6865 NCBI SNPs in DYNC2H1 are shown (see all 6865    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1378530261,2
    C,pathogenic134269786(+) TTGCCA/GTGGGT 4 M V mis10--------
    rs1378530271,2
    Cpathogenic134353727(+) TAGAGA/GTATTC 4 D G mis10--------
    rs746090701,2
    F,--98906984(+) CTGTGA/TTATGG 2 -- us2k11Minor allele frequency- T:0.08WA 118
    rs764077331,2
    F,--98908060(+) TTGCAC/TCAACC 2 -- us2k11Minor allele frequency- T:0.07WA 118
    rs779769341,2
    F,--98908216(+) TTTCAC/AAGAAT 2 -- us2k11Minor allele frequency- A:0.07WA 118
    rs1149939131,2
    C,F,--98908926(+) TACGGG/TTTTGA 2 -- ut511Minor allele frequency- T:0.07WA 118
    rs122830221,2
    C,F,H,--98909310(+) TACCAA/GCCAGA 2 -- int112Minor allele frequency- G:0.10NS EA NA WA 1312
    rs567021591,2
    --98909741(+) CATGAG/ACCACC 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs583895891,2
    --98909861(+) TTTTTG/TGGGGG 2 -- int10--------
    rs1139283201,2
    --98910193(+) TTAAAC/ACTCTT 2 -- int12Minor allele frequency- A:0.04CSA WA 120

    HapMap Linkage Disequilibrium report for DYNC2H1 (102980160 - 103230160 bp, first 250kb of DYNC2H1)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 15 variations for DYNC2H1
         7 CNVs: 0155 2954 71374 6896 8694 85985 85983
         8 Indels: 44806 39859 60060 11575 39860 60059 101324 41661
    Human Gene Mutation Database (HGMD): DYNC2H1

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    (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.)
    About This Section

    DYNC2H1 for disorders           About GeneDecksing

    OMIM gene information: 603297   
    OMIM disorders: 613091  263510  263520  
    UniProtKB/Swiss-Prot: DYHC2_HUMAN, Q8NCM8
  • Defects in DYNC2H1 are the cause of asphyxiating thoracic dystrophy type 3 (ATD3) [MIM:613091]. ATD3 is an
  • autosomal recessive osteochondrodysplasia which often leads to death in infancy because of a severely constricted
    thoracic cage and respiratory insufficiency
  • Defects in DYNC2H1 are the cause of short rib-polydactyly syndrome type 3 (SRPS3) [MIM:263510]; also called
  • Verma-Naumoff syndrome. 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

    13 diseases for DYNC2H1:    About MalaCards
    short rib-polydactyly syndrome, type ii, digenic    polydactyly    short rib-polydactyly syndrome type 3    ellis-van creveld syndrome
    asphyxiating thoracic dystrophy    asphyxiating thoracic dystrophy 3    primary ciliary dyskinesia    ciliary dyskinesia
    sensenbrenner syndrome    osteochondrodysplasia    malignant glioma    lung cancer
    neuronitis

    3 diseases from the University of Copenhagen DISEASES database for DYNC2H1:
    Asphyxiating thoracic dystrophy     Polydactyly     Sensenbrenner syndrome
    Human Genome Epidemiology (HuGE) Navigator: DYNC2H1 (2 documents)

    Export disorders for DYNC2H1 gene to outside databases

    (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

    PubMed articles for DYNC2H1 gene, integrated from 9 sources (see all 30):
    (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. (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. (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. (2009)
    4. Genetic analysis of the cytoplasmic dynein subunit families. (PubMed id 16440056)1, 2 Pfister K.K.... Fisher E.M.C. (2006)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method. (PubMed id 12056414)1, 2 Ohara O.... Koseki H. (2002)
    7. Chromosomal localization of the human cytoplasmic dynein heavy chain gene DNCH2 to 11q21-->q22.1. (PubMed id 9763680)1, 3 Koehler M.R.... Neesen J. (1998)
    8. Mammalian cells express three distinct dynein heavy chains that are localized to different cytoplasmic organelles. (PubMed id 8666668)1, 2 Vaisberg E.A.... McIntosh J.R. (1996)
    9. Phylogeny and expression of axonemal and cytoplasmic dynein genes in sea urchins. (PubMed id 8186465)1, 2 Gibbons B.H.... Gibbons I.R. (1994)
    10. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 79659 HGNC: 2962 AceView: DNCH2.2 Ensembl:ENSG00000187240 euGenes: HUgn79659
    ECgene: DYNC2H1 Kegg: 79659 H-InvDB: DYNC2H1

    (According to HUGE)
    About This Section
    HUGE: KIAA1997

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DYNC2H1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DYNC2H1 gene:
    Search GeneIP for patents involving DYNC2H1

    GeneCards and IP:
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