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    DYNC2H1 dynein cytoplasmic 2 heavy chain 1 [ Homo sapiens (human) ]

    Gene ID: 79659, updated on 8-Jul-2021

    Summary

    Official Symbol
    DYNC2H1provided by HGNC
    Official Full Name
    dynein cytoplasmic 2 heavy chain 1provided by HGNC
    Primary source
    HGNC:HGNC:2962
    See related
    Ensembl:ENSG00000187240 MIM:603297
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ATD3; DHC2; DHC1b; DNCH2; DYH1B; SRTD3; SRPS2B; hdhc11
    Summary
    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]
    Expression
    Broad expression in testis (RPKM 4.1), thyroid (RPKM 3.0) and 23 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See DYNC2H1 in Genome Data Viewer
    Location:
    11q22.3
    Exon count:
    90
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (103109426..103479863)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (102980155..103350591)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein L21 pseudogene 96 Neighboring gene defective in cullin neddylation 1 domain containing 5 Neighboring gene MT-ATP6 pseudogene 15 Neighboring gene MT-CO3 pseudogene 15 Neighboring gene MT-CO2 pseudogene 15 Neighboring gene MT-CO1 pseudogene 15 Neighboring gene MT-ND2 pseudogene 26 Neighboring gene MT-ND1 pseudogene 36 Neighboring gene uncharacterized LOC105369463 Neighboring gene eukaryotic translation initiation factor 4E binding protein 2 pseudogene Neighboring gene uncharacterized LOC102723862 Neighboring gene microRNA 4693

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.
    GeneReviews: Not available
    Genome-wide association study of selenium concentrations.
    GeneReviews: Not available
    Genome-wide interrogation identifies YAP1 variants associated with survival of small-cell lung cancer patients.
    GeneReviews: Not available
    Short-rib thoracic dysplasia 3 with or without polydactyly
    MedGen: C0036069 OMIM: 613091 GeneReviews: Not available
    Compare labs

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Dynein heavy chain knockdown by siRNA enhances HIV-1 infectivity in TRIMCyp-expressing HeLa cells but not in TRIMCyp-expressing owl monkey cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    capsid gag HIV-1 CA uncoating is delayed in the presence of ciliobrevin D, a specific inhibitor of dynein-mediated motor function, indicating that dynein is involved in CA uncoating in cells PubMed
    gag Dynein heavy chain depletion causes the accumulation of HIV-1 CA cores in infected cells and relocates their subcellular distribution from the vicinity of the nucleus to the cell periphery PubMed
    reverse transcriptase gag-pol Dynein heavy chain (DHC) depletion causes reduced levels of HIV-1 reverse transcribed DNA in infected cells, suggesting RT activity is regulated by DHC PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ11756

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables cytoskeletal motor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables dynein intermediate chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables dynein light intermediate chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    contributes_to minus-end-directed microtubule motor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Golgi organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in coronary vasculature development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in determination of left/right symmetry IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dorsal/ventral pattern formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic limb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in forebrain development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intraciliary retrograde transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in kidney development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in microtubule-based movement IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in non-motile cilium assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein localization to cilium IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein processing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in spinal cord motor neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in apical part of cell IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in ciliary tip TAS
    Traceable Author Statement
    more info
     
    located_in cilium TAS
    Traceable Author Statement
    more info
     
    part_of cytoplasmic dynein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of cytoplasmic dynein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of dynein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in motile cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    cytoplasmic dynein 2 heavy chain 1
    Names
    dynein cytoplasmic heavy chain 2
    dynein heavy chain 11
    dynein heavy chain, isotype 1B
    dynein, cytoplasmic, heavy polypeptide 2

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_016423.2 RefSeqGene

      Range
      4996..375433
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001080463.2NP_001073932.1  cytoplasmic dynein 2 heavy chain 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longer transcript and encodes the longer isoform (2).
      Source sequence(s)
      AP000817, AP001486, AP002829, AP002961, AP003382, AP003461
      Consensus CDS
      CCDS44717.1
      UniProtKB/Swiss-Prot
      Q8NCM8
      Related
      ENSP00000497174.1, ENST00000650373.2
      Conserved Domains (7) summary
      pfam03028
      Location:36224303
      Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
      pfam07728
      Location:19742110
      AAA_5; AAA domain (dynein-related subfamily)
      pfam08385
      Location:162639
      DHC_N1; Dynein heavy chain, N-terminal region 1
      pfam08393
      Location:11201519
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12777
      Location:28973229
      MT; Microtubule-binding stalk of dynein motor
      pfam12781
      Location:32533474
      AAA_9; ATP-binding dynein motor region D5
      cl21455
      Location:16511881
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    2. NM_001377.3NP_001368.2  cytoplasmic dynein 2 heavy chain 1 isoform 1

      See identical proteins and their annotated locations for NP_001368.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks an in-frame exon in the 3' coding region, compared to variant 2. This results in a protein (isoform 1) that is seven aa shorter than isoform 2.
      Source sequence(s)
      AP000817, AP001486, AP002829, AP002961, AP003382, AP003461
      Consensus CDS
      CCDS53701.1
      UniProtKB/Swiss-Prot
      Q8NCM8
      Related
      ENSP00000364887.2, ENST00000375735.7
      Conserved Domains (7) summary
      pfam03028
      Location:36154296
      Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
      pfam07728
      Location:19742110
      AAA_5; AAA domain (dynein-related subfamily)
      pfam08385
      Location:162639
      DHC_N1; Dynein heavy chain, N-terminal region 1
      pfam08393
      Location:11201519
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12777
      Location:28973229
      MT; Microtubule-binding stalk of dynein motor
      pfam12781
      Location:32533467
      AAA_9; ATP-binding dynein motor region D5
      cl21455
      Location:16511881
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      103109426..103479863
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018291.1XP_016873780.1  cytoplasmic dynein 2 heavy chain 1 isoform X2

    2. XM_006718903.2XP_006718966.1  cytoplasmic dynein 2 heavy chain 1 isoform X1

      Conserved Domains (7) summary
      pfam03028
      Location:36084289
      Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
      pfam07728
      Location:19742110
      AAA_5; AAA domain (dynein-related subfamily)
      pfam08385
      Location:162639
      DHC_N1; Dynein heavy chain, N-terminal region 1
      pfam08393
      Location:11201519
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12777
      Location:28903222
      MT; Microtubule-binding stalk of dynein motor
      pfam12781
      Location:32463460
      AAA_9; ATP-binding dynein motor region D5
      cl21455
      Location:16511881
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    3. XM_017018293.1XP_016873782.1  cytoplasmic dynein 2 heavy chain 1 isoform X4

    4. XM_017018292.1XP_016873781.1  cytoplasmic dynein 2 heavy chain 1 isoform X3

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_024606.2: Suppressed sequence

      Description
      NM_024606.2: This RefSeq was suppressed temporarily based on the calculation that the annotated protein was shorter than a protein or proteins from a putative ortholog.
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