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Aliases for DYNC2H1 Gene

Aliases for DYNC2H1 Gene

  • Dynein, Cytoplasmic 2, Heavy Chain 1 2 3
  • DNCH2 3 4 6
  • DHC2 3 4 6
  • Dynein, Cytoplasmic, Heavy Polypeptide 2 2 3
  • Dynein Cytoplasmic Heavy Chain 2 3 4
  • Dynein Heavy Chain Isotype 1B 3 4
  • Dynein Heavy Chain 11 3 4
  • Hdhc11 3 4
  • SRPS2B 3 6
  • DHC1b 3 4
  • SRTD3 3 6
  • DYH1B 3 4
  • ATD3 3 6
  • Cytoplasmic Dynein 2 Heavy Chain 1 3
  • Cytoplasmic Dynein 2 Heavy Chain 4
  • Dynein Heavy Chain, Isotype 1B 3
  • KIAA1997 4

External Ids for DYNC2H1 Gene

Previous Symbols for DYNC2H1 Gene

  • DNCH2

Summaries for DYNC2H1 Gene

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 thoracic dysplasia 3 with or without polydactyly and asphyxiating thoracic dystrophy. Among its related pathways are Class I MHC mediated antigen processing and presentation and Salmonella infection (KEGG). GO annotations related to this gene include ATPase activity and motor activity. An important paralog of this gene is DNAH1.

UniProtKB/Swiss-Prot for DYNC2H1 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DYNC2H1 Gene

Genomics for DYNC2H1 Gene

Genomic Location for DYNC2H1 Gene

Start:
103,109,431 bp from pter
End:
103,479,863 bp from pter
Size:
370,433 bases
Orientation:
Plus strand

Genomic View for DYNC2H1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DYNC2H1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DYNC2H1 Gene

Regulatory Elements for DYNC2H1 Gene

Proteins for DYNC2H1 Gene

  • Protein details for DYNC2H1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NCM8-DYHC2_HUMAN
    Recommended name:
    Cytoplasmic dynein 2 heavy chain 1
    Protein Accession:
    Q8NCM8
    Secondary Accessions:
    • O00432
    • Q16693
    • Q3C1U8
    • Q4AC93
    • Q6ZMX7
    • Q6ZUM6
    • Q7Z363
    • Q8N977
    • Q92815
    • Q9HAE4

    Protein attributes for DYNC2H1 Gene

    Size:
    4307 amino acids
    Molecular mass:
    492622 Da
    Quaternary structure:
    • The cytoplasmic dynein complex 2 is probably composed by a heavy chain DYNC2H1 homodimer and a number of DYNC2LI1 light intermediate chains.
    SequenceCaution:
    • Sequence=BAB13905.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC04578.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAD18598.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DYNC2H1 Gene

    Alternative splice isoforms for DYNC2H1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DYNC2H1 Gene

Proteomics data for DYNC2H1 Gene at MOPED

Post-translational modifications for DYNC2H1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DYNC2H1 Gene

No data available for DME Specific Peptides for DYNC2H1 Gene

Domains for DYNC2H1 Gene

Gene Families for DYNC2H1 Gene

HGNC:
  • DYN :Cytoplasmic dyneins

UniProtKB/Swiss-Prot:

DYHC2_HUMAN
Family:
  • Belongs to the dynein heavy chain family.:
    • Q8NCM8
genes like me logo Genes that share domains with DYNC2H1: view

Function for DYNC2H1 Gene

Molecular function for DYNC2H1 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for DYNC2H1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity NAS 8666668
GO:0003777 microtubule motor activity IEA --
GO:0005524 ATP binding IEA --
GO:0016887 ATPase activity IEA --
genes like me logo Genes that share ontologies with DYNC2H1: view
genes like me logo Genes that share phenotypes with DYNC2H1: view

miRNA for DYNC2H1 Gene

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for DYNC2H1 Gene

Localization for DYNC2H1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DYNC2H1 Gene

Cytoplasm, cytoskeleton, cilium axoneme. Cell membrane; Peripheral membrane protein. Cytoplasm. Note=Localizes to the apical cytoplasm (By similarity). According to PubMed:8666668, it localizes to Golgi apparatus, cytoplasmic vesicle and endoplasmic reticulum. {ECO:0000250, ECO:0000269 PubMed:8666668}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DYNC2H1 Gene COMPARTMENTS Subcellular localization image for DYNC2H1 gene
Compartment Confidence
cytoskeleton 5
golgi apparatus 5
plasma membrane 5
cytosol 4
extracellular 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for DYNC2H1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IDA 8666668
GO:0005829 cytosol TAS --
GO:0005874 microtubule IDA 21525035
GO:0005886 plasma membrane IEA --
GO:0005930 axoneme IEA --
genes like me logo Genes that share ontologies with DYNC2H1: view

Pathways for DYNC2H1 Gene

genes like me logo Genes that share pathways with DYNC2H1: view

Pathways by source for DYNC2H1 Gene

Gene Ontology (GO) - Biological Process for DYNC2H1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006200 obsolete ATP catabolic process --
GO:0006996 organelle organization TAS --
GO:0007018 microtubule-based movement --
GO:0007030 Golgi organization IDA 8666668
GO:0007368 determination of left/right symmetry IEA --
genes like me logo Genes that share ontologies with DYNC2H1: view

Compounds for DYNC2H1 Gene

(2) PharmGKB related drug/compound annotations for DYNC2H1 Gene

Drug/compound Annotation
etoposide CA
Platinum compounds CA
genes like me logo Genes that share compounds with DYNC2H1: view

Transcripts for DYNC2H1 Gene

mRNA/cDNA for DYNC2H1 Gene

(4) REFSEQ mRNAs :
(15) Additional mRNA sequences :
(5) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DYNC2H1 Gene

Dynein, cytoplasmic 2, heavy chain 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DYNC2H1 Gene

No ASD Table

Relevant External Links for DYNC2H1 Gene

GeneLoc Exon Structure for
DYNC2H1
ECgene alternative splicing isoforms for
DYNC2H1

Expression for DYNC2H1 Gene

mRNA expression in normal human tissues for DYNC2H1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for DYNC2H1 Gene

SOURCE GeneReport for Unigene cluster for DYNC2H1 Gene Hs.503721

genes like me logo Genes that share expressions with DYNC2H1: view

Orthologs for DYNC2H1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DYNC2H1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DYNC2H1 36
  • 99.48 (n)
  • 99.49 (a)
DYNC2H1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DYNC2H1 36
  • 91.49 (n)
  • 93.46 (a)
dog
(Canis familiaris)
Mammalia DYNC2H1 36
  • 90.16 (n)
  • 94.19 (a)
DYNC2H1 37
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dync2h1 36
  • 87.1 (n)
  • 93.36 (a)
Dync2h1 16
Dync2h1 37
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DYNC2H1 37
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DYNC2H1 37
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dync2h1 36
  • 86.9 (n)
  • 93.15 (a)
chicken
(Gallus gallus)
Aves DYNC2H1 36
  • 77.42 (n)
  • 79.78 (a)
DYNC2H1 37
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DYNC2H1 37
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dync2h1 36
  • 72.24 (n)
  • 76.7 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1843 36
zebrafish
(Danio rerio)
Actinopterygii CABZ01078919.1 37
  • 75 (a)
OneToMany
DYNC2H1 (2 of 2) 37
  • 76 (a)
OneToMany
LOC100332402 36
  • 65.21 (n)
  • 72.51 (a)
fruit fly
(Drosophila melanogaster)
Insecta btv 37
  • 33 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea che-3 36
  • 51.7 (n)
  • 42.17 (a)
che-3 37
  • 42 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DYN1 37
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 57 (a)
OneToOne
Species with no ortholog for DYNC2H1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DYNC2H1 Gene

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

Paralogs for DYNC2H1 Gene

Selected SIMAP similar genes for DYNC2H1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with DYNC2H1: view

Variants for DYNC2H1 Gene

Sequence variations from dbSNP and Humsavar for DYNC2H1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs3103 -- 103,252,225(+) CAGCC(A/G)TGCCT intron-variant
rs17488 -- 103,237,916(+) AATTA(A/G)TAAGC intron-variant
rs70504 -- 103,434,562(+) ATGCC(A/C)TATGA intron-variant
rs87874 -- 103,434,558(+) TCCAA(A/T)GCCAT intron-variant
rs188754 -- 103,364,705(-) GCAGA(G/T)ATTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DYNC2H1 Gene

Variant ID Type Subtype PubMed ID
nsv832253 CNV Gain 17160897
nsv483025 CNV Loss 15286789
nsv468855 CNV Loss 19166990
dgv1305n71 CNV Loss 21882294
dgv1306n71 CNV Loss 21882294
nsv826063 CNV Loss 20364138
dgv432e1 CNV Complex 17122850
nsv523713 CNV Gain 19592680
esv270902 CNV Insertion 20981092
dgv1307n71 CNV Loss 21882294
esv2750977 CNV Gain 17911159
esv2508457 CNV Deletion 19546169
esv2745007 CNV Deletion 23290073
esv2151015 CNV Deletion 18987734
esv4269 CNV Deletion 18987735
esv2745009 CNV Deletion 23290073
esv2464518 CNV Deletion 19546169
nsv39433 CNV Loss 16902084
nsv521204 CNV Loss 19592680
esv995312 CNV Insertion 20482838
esv33410 CNV Loss 17666407
nsv898343 CNV Loss 21882294
nsv898344 CNV Loss 21882294
esv268015 CNV Insertion 20981092
esv274687 CNV Insertion 20981092
esv2660519 CNV Deletion 23128226
esv27587 CNV Gain 19812545

Relevant External Links for DYNC2H1 Gene

HapMap Linkage Disequilibrium report
DYNC2H1
Human Gene Mutation Database (HGMD)
DYNC2H1

Disorders for DYNC2H1 Gene

(1) OMIM Diseases for DYNC2H1 Gene (603297)

UniProtKB/Swiss-Prot

DYHC2_HUMAN
  • Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a trident appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. {ECO:0000269 PubMed:19361615, ECO:0000269 PubMed:19442771, ECO:0000269 PubMed:22499340, ECO:0000269 PubMed:23456818}. 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 (digenic short rib-polydactyly syndrome 3/6 with polydactyly) (PubMed:21211617). {ECO:0000269 PubMed:21211617}.

(3) University of Copenhagen DISEASES for DYNC2H1 Gene

Relevant External Links for DYNC2H1

Genetic Association Database (GAD)
DYNC2H1
Human Genome Epidemiology (HuGE) Navigator
DYNC2H1
genes like me logo Genes that share disorders with DYNC2H1: view

Publications for DYNC2H1 Gene

  1. Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. (PMID: 19361615) Merrill A.E. … Krakow D. (Am. J. Hum. Genet. 2009) 3 4 23
  2. DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. (PMID: 19442771) Dagoneau N. … Cormier-Daire V. (Am. J. Hum. Genet. 2009) 3 4 23
  3. Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene. (PMID: 9373155) Neesen J. … Schmid M. (Gene 1997) 2 3 4
  4. Chromosomal localization of the human cytoplasmic dynein heavy chain gene DNCH2 to 11q21-->q22.1. (PMID: 9763680) Koehler M.R. … Neesen J. (Cytogenet. Cell Genet. 1998) 2 3
  5. Phylogeny and expression of axonemal and cytoplasmic dynein genes in sea urchins. (PMID: 8186465) Gibbons B.H. … Gibbons I.R. (Mol. Biol. Cell 1994) 3 4

Products for DYNC2H1 Gene

Sources for DYNC2H1 Gene

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