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

DYNC2H1 Gene

protein-coding   GIFtS: 54
GCID: GC11P102980

Dynein, Cytoplasmic 2, Heavy Chain 1

(Previous names: dynein, cytoplasmic, heavy polypeptide 2)
(Previous symbol: DNCH2)
  See related diseases
at  

(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

Aliases
Dynein, Cytoplasmic 2, Heavy Chain 11 2     DHC1b2
DNCH21 2 3 5     SRPS2B2
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

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 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 short rib-polydactyly syndrome, and asphyxiating thoracic dystrophy 3, and among its related super-pathways are Immune System and Cytoskeleton remodeling Neurofilaments. 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


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.2  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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for DYNC2H1 at MOPED 

Post-translational modifications:

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

  • DYNC2H1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DYNC2H1 Protein Expression
    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 for DYNC2H1: 
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    Cloud-Clone Corp. 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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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    DYN: Cytoplasmic dyneins

    5/10 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


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/6 molecular function terms (GO ID links to tree view) (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:
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

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

    SuperPathContained pathways About
    1Immune System
    Immune System0.56
    Adaptive Immune System0.56
    2Cytoskeleton remodeling Neurofilaments
    Cytoplasmic microtubules0.32
    3MHC class II antigen presentation
    MHC class II antigen presentation0.32
    4Vasopressin-regulated water reabsorption
    Vasopressin-regulated water reabsorption
    5Salmonella infection
    Salmonella infection

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for DYNC2H1
        Cytoplasmic microtubules


    3        Reactome Pathways for DYNC2H1
        Adaptive Immune System
    Immune System
    MHC class II antigen presentation


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


    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): 5/15 biological process terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001539ciliary or bacterial-type flagellar 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



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 (DYHC2)

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

    (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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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 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 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 <intensity>2/3
    CGAP TAG: TGGTCAGTCT
    DYNC2H1 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
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    (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 and fungi.

    Orthologs for DYNC2H1 gene from 6/15 species (see all 15)    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 77.48(n)
    79.89(a)
      418979  XM_417173.3  XP_417173.2 
    lizard
    (Anolis carolinensis)
    Reptilia DYNC2H16
    dynein, cytoplasmic 2, heavy chain 1
    82(a)
    1 ↔ 1
    3(191759795-191949787)
    zebrafish
    (Danio rerio)
    Actinopterygii BI864255.12   -- 73.63(n)    BI864255.1 
    worm
    (Caenorhabditis elegans)
    Secernentea che-31 Protein CHE-3 51.6(n)
    42(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)


    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  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



    (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) 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

    10/8180 SNPs in DYNC2H1 are shown (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) 10/27 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
    SABiosciences Cancer Mutation PCR Assays
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    (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
    OMIM gene information: 603297   
    OMIM disorders: 613091  263510  263520  
    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)

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

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

    DYNC2H1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): DYNC2H1
    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 39):
    (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. NEK1 and DYNC2H1 are both involved in short rib polyda ctyly Majewski type but not in Beemer Langer cases. (PubMed id 22499340)1, 2 El Hokayem J....Cormier-Daire V. (2012)
    5. Genome-wide interrogation identifies YAP1 variants as sociated with survival of small-cell lung cancer patients. (PubMed id 21118971)1, 4 Wu C....Lin D. (2010)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    7. Genetic analysis of the cytoplasmic dynein subunit families. (PubMed id 16440056)1, 2 Pfister K.K.... Fisher E.M.C. (2006)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method. (PubMed id 12056414)1, 2 Ohara O.... Koseki H. (2002)
    10. 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)

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



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