U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Dync2h1 dynein cytoplasmic 2 heavy chain 1 [ Mus musculus (house mouse) ]

Gene ID: 110350, updated on 11-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
Dync2h1provided by MGI
Official Full Name
dynein cytoplasmic 2 heavy chain 1provided by MGI
Primary source
MGI:MGI:107736
See related
Ensembl:ENSMUSG00000047193 AllianceGenome:MGI:107736
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
DHC2; DHC11; DHC1b; Dnchc2; mDHC11; m152Asp; m407Asp; b2b414Clo; 4432416O06Rik; D030010H02Rik; D330044F14Rik
Summary
Predicted to enable dynein intermediate chain binding activity; dynein light intermediate chain binding activity; and minus-end-directed microtubule motor activity. Acts upstream of or within several processes, including animal organ development; cilium organization; and positive regulation of smoothened signaling pathway. Located in apical part of cell; axoneme; and motile cilium. Is expressed in brain ventricular layer and olfactory epithelium. Used to study VACTERL association and asphyxiating thoracic dystrophy 3. Human ortholog(s) of this gene implicated in asphyxiating thoracic dystrophy 3. Orthologous to human DYNC2H1 (dynein cytoplasmic 2 heavy chain 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis adult (RPKM 4.9), CNS E11.5 (RPKM 2.2) and 18 other tissues See more
Orthologs
human all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
9 A1; 9
Exon count:
92
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (6928550..7177619, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (6928550..7178306, complement)

Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_23196 Neighboring gene predicted gene, 23097 Neighboring gene STARR-seq mESC enhancer starr_23197 Neighboring gene STARR-seq mESC enhancer starr_23198 Neighboring gene STARR-seq mESC enhancer starr_23199 Neighboring gene STARR-seq mESC enhancer starr_23200 Neighboring gene predicted gene, 53497 Neighboring gene STARR-seq mESC enhancer starr_23204 Neighboring gene STARR-seq mESC enhancer starr_23205 Neighboring gene STARR-seq mESC enhancer starr_23206 Neighboring gene STARR-positive B cell enhancer ABC_E6712 Neighboring gene defective in cullin neddylation 1 domain containing 5 Neighboring gene predicted gene, 31639 Neighboring gene matrix metallopeptidase 13

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Mutations in Ciliary Trafficking Genes affect Sonic Hedgehog-dependent Neural Tube Patterning Differentially along the Anterior-Posterior Axis. Legué E, et al. Neuroscience, 2020 Dec 1. PMID 32682825, Free PMC Article
  2. Neuropilin-1 promotes Hedgehog signaling through a novel cytoplasmic motif. Pinskey JM, et al. J Biol Chem, 2017 Sep 15. PMID 28667171, Free PMC Article
  3. Primary cilia are not required for normal canonical Wnt signaling in the mouse embryo. Ocbina PJ, et al. PLoS One, 2009 Aug 31. PMID 19718259, Free PMC Article
  4. What are those cilia doing in the neural tube? Bay SN, et al. Cilia, 2012 Oct 1. PMID 23351466, Free PMC Article
  5. Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium. Caparrós-Martín JA, et al. Hum Mol Genet, 2015 Jul 15. PMID 25908617, Free PMC Article

See all (47) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

Go to the top of the page Help

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Transgenic (1) 
  • Gene trapped (1)  1 citation
  • Chemically induced (ENU) (7)  1 citation
  • Endonuclease-mediated (3) 

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • KIAA1997

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
  
enables dynein intermediate chain binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables dynein light intermediate chain binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables dynein light intermediate chain binding ISO
Inferred from Sequence Orthology
more info
  
enables minus-end-directed microtubule motor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
contributes_to minus-end-directed microtubule motor activity ISO
Inferred from Sequence Orthology
more info
  
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in Golgi organization ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within cell projection organization IEA
Inferred from Electronic Annotation
more info
  
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within cilium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cilium movement involved in cell motility IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within coronary vasculature development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within determination of left/right symmetry IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within dorsal/ventral pattern formation IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within dorsal/ventral pattern formation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within embryonic limb morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within forebrain development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within heart development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in intraciliary retrograde transport IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within intraciliary retrograde transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within kidney development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in microtubule-based movement IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within multicellular organism development IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within neuron differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within non-motile cilium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within positive regulation of smoothened signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within protein localization to cilium IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within protein processing IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within spinal cord motor neuron differentiation IGI
Inferred from Genetic Interaction
more info
 PubMed 
Component Evidence Code Pubs
is_active_in 9+2 motile cilium IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in Golgi apparatus ISO
Inferred from Sequence Orthology
more info
  
located_in apical part of cell IDA
Inferred from Direct Assay
more info
 PubMed 
located_in apical part of cell ISO
Inferred from Sequence Orthology
more info
  
is_active_in axoneme IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in axoneme IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
located_in cilium IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
part_of cytoplasmic dynein complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of cytoplasmic dynein complex ISM
Inferred from Sequence Model
more info
 PubMed 
part_of cytoplasmic dynein complex ISO
Inferred from Sequence Orthology
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
part_of dynein complex IEA
Inferred from Electronic Annotation
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in microtubule ISO
Inferred from Sequence Orthology
more info
  
located_in motile cilium IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

Go to the top of the page Help
Preferred Names
cytoplasmic dynein 2 heavy chain 1
Names
cytoplasmic dynein heavy chain 2
dynein heavy chain 11
dynein heavy chain isotype 1B

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001364519.1 → NP_001351448.1  cytoplasmic dynein 2 heavy chain 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC155908, BC088991, DQ104402
    Consensus CDS
    CCDS90492.1
    UniProtKB/TrEMBL
    D3Z025
    Related
    ENSMUSP00000120322.2, ENSMUST00000139115.2
    Conserved Domains (1) summary
    pfam08385
    Location:161 → 639
    DHC_N1; Dynein heavy chain, N-terminal region 1

  2. NM_029851.3 → NP_084127.2  cytoplasmic dynein 2 heavy chain 1 isoform 1

    See identical proteins and their annotated locations for NP_084127.2

    Status: VALIDATED

    Source sequence(s)
    AC155908, DQ104402
    Consensus CDS
    CCDS40528.1
    UniProtKB/Swiss-Prot
    B8JJF9, B8JJG0, O08822, Q45VK7, Q5VI59, Q5VI60, Q5VI61, Q5VI62, Q69Z42, Q8BJL5, Q8BL87, Q8BMC7, Q8BUI9, Q8BXK5, Q9CRR8
    Related
    ENSMUSP00000046733.7, ENSMUST00000048417.13
    Conserved Domains (5) summary
    COG5245
    Location:1361 → 4015
    DYN1; Dynein, heavy chain [Cytoskeleton]
    pfam08385
    Location:161 → 639
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:1120 → 1518
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12774
    Location:1651 → 1986
    AAA_6; Hydrolytic ATP binding site of dynein motor region D1
    pfam18199
    Location:4010 → 4303
    Dynein_C; Dynein heavy chain C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000075.7 Reference GRCm39 C57BL/6J

    Range
    6928550..7177619 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006509827.5 → XP_006509890.1  cytoplasmic dynein 2 heavy chain 1 isoform X3

    Conserved Domains (5) summary
    COG5245
    Location:1361 → 4015
    DYN1; Dynein, heavy chain [Cytoskeleton]
    pfam08385
    Location:161 → 639
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:1120 → 1518
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12774
    Location:1651 → 1986
    AAA_6; Hydrolytic ATP binding site of dynein motor region D1
    pfam18199
    Location:4010 → 4303
    Dynein_C; Dynein heavy chain C-terminal domain

  2. XM_030244009.2 → XP_030099869.1  cytoplasmic dynein 2 heavy chain 1 isoform X2

    UniProtKB/Swiss-Prot
    B8JJF9, B8JJG0, O08822, Q45VK7, Q5VI59, Q5VI60, Q5VI61, Q5VI62, Q69Z42, Q8BJL5, Q8BL87, Q8BMC7, Q8BUI9, Q8BXK5, Q9CRR8
    Conserved Domains (5) summary
    COG5245
    Location:1361 → 4015
    DYN1; Dynein, heavy chain [Cytoskeleton]
    pfam08385
    Location:161 → 639
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:1120 → 1518
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12774
    Location:1651 → 1986
    AAA_6; Hydrolytic ATP binding site of dynein motor region D1
    pfam18199
    Location:4010 → 4303
    Dynein_C; Dynein heavy chain C-terminal domain

  3. XM_030244008.2 → XP_030099868.1  cytoplasmic dynein 2 heavy chain 1 isoform X1

    Related
    ENSMUSP00000116679.2, ENSMUST00000147193.8
    Conserved Domains (5) summary
    COG5245
    Location:1361 → 4022
    DYN1; Dynein, heavy chain [Cytoskeleton]
    pfam08385
    Location:161 → 639
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:1120 → 1518
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12774
    Location:1651 → 1986
    AAA_6; Hydrolytic ATP binding site of dynein motor region D1
    pfam18199
    Location:4017 → 4310
    Dynein_C; Dynein heavy chain C-terminal domain

  4. XM_030244010.2 → XP_030099870.1  cytoplasmic dynein 2 heavy chain 1 isoform X4

    UniProtKB/TrEMBL
    D3Z025
    Conserved Domains (1) summary
    pfam08385
    Location:161 → 639
    DHC_N1; Dynein heavy chain, N-terminal region 1

RNA

  1. XR_003947762.2 RNA Sequence

  2. XR_001778791.3 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_138307.1: Suppressed sequence

    Description
    NM_138307.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q45VK7.1 GenPept UniProtKB/Swiss-Prot:Q45VK7

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous