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

Gene ID: 79659, updated on 17-Jun-2019

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

Genomic context

See DYNC2H1 in Genome Data Viewer
Location:
11q22.3
Exon count:
90
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (103109426..103479863)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (102980160..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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Short-rib thoracic dysplasia 3 with or without polydactyly
MedGen: C2751311 OMIM: 613091 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.
NHGRI GWA Catalog
Genome-wide association study of selenium concentrations.
NHGRI GWA Catalog
Genome-wide interrogation identifies YAP1 variants associated with survival of small-cell lung cancer patients.
NHGRI GWA Catalog

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 BioSystems

  • Cilium Assembly, organism-specific biosystem (from REACTOME)
    Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
  • Hedgehog 'off' state, organism-specific biosystem (from REACTOME)
    Hedgehog 'off' state, organism-specific biosystemHedgehog is a secreted morphogen that has evolutionarily conserved roles in body organization by regulating the activity of the Ci/Gli transcription factor family. In Drosophila in the absence of Hh ...
  • Intraflagellar transport, organism-specific biosystem (from REACTOME)
    Intraflagellar transport, organism-specific biosystemIntraflagellar transport (IFT) is a motor-based process that controls the anterograde and retrograde transport of large protein complexes, ciliary cargo and structural components along the ciliary ax...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
  • Phagosome, organism-specific biosystem (from KEGG)
    Phagosome, organism-specific biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
  • Phagosome, conserved biosystem (from KEGG)
    Phagosome, conserved biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
  • Salmonella infection, organism-specific biosystem (from KEGG)
    Salmonella infection, organism-specific biosystemSalmonella infection usually presents as a self-limiting gastroenteritis or the more severe typhoid fever and bacteremia. The common disease-causing Salmonella species in human is a single species, S...
  • Salmonella infection, conserved biosystem (from KEGG)
    Salmonella infection, conserved biosystemSalmonella infection usually presents as a self-limiting gastroenteritis or the more severe typhoid fever and bacteremia. The common disease-causing Salmonella species in human is a single species, S...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Hedgehog, organism-specific biosystem (from REACTOME)
    Signaling by Hedgehog, organism-specific biosystemHedgehog (Hh) is a secreted morphogen that regulates developmental processes in vertebrates including limb bud formation, neural tube patterning, cell growth and differentiation (reviewed in Hui and ...
  • Vasopressin-regulated water reabsorption, organism-specific biosystem (from KEGG)
    Vasopressin-regulated water reabsorption, organism-specific biosystemIn the kidney, the antidiuretic hormone vasopressin (AVP) is a critical regulator of water homeostasis by controlling the water movement from lumen to the interstitium for water reabsorption and adju...
  • Vasopressin-regulated water reabsorption, conserved biosystem (from KEGG)
    Vasopressin-regulated water reabsorption, conserved biosystemIn the kidney, the antidiuretic hormone vasopressin (AVP) is a critical regulator of water homeostasis by controlling the water movement from lumen to the interstitium for water reabsorption and adju...

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

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
    5001..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, ENST00000650373.1
    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 Annotation Release 109

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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