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DYNC2H1 Gene(Protein Coding)

Dynein Cytoplasmic 2 Heavy Chain 1

GCID:
GC11P103109
GIFtS:
54
Genes Participants
UDN Logo

Aliases for DYNC2H1 Gene

Aliases for DYNC2H1 Gene

  • Dynein Cytoplasmic 2 Heavy Chain 1 2 3
  • Dynein, Cytoplasmic, Heavy Polypeptide 2 2 3
  • Dynein, Cytoplasmic 2, Heavy Chain 1 3 5
  • Dynein Cytoplasmic Heavy Chain 2 3 4
  • Dynein Heavy Chain Isotype 1B 3 4
  • Dynein Heavy Chain 11 3 4
  • Hdhc11 3 4
  • DHC1b 3 4
  • DNCH2 3 4
  • DYH1B 3 4
  • DHC2 3 4
  • Cytoplasmic Dynein 2 Heavy Chain 4
  • Dynein Heavy Chain, Isotype 1B 3
  • KIAA1997 4
  • SRPS2B 3
  • SRTD3 3
  • ATD3 3

External Ids for DYNC2H1 Gene

Previous HGNC Symbols for DYNC2H1 Gene

  • DNCH2

Previous GeneCards Identifiers for DYNC2H1 Gene

  • GC11P102487
  • GC11P102980
  • GC11P098908

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 Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly. Among its related pathways are Golgi-to-ER retrograde transport and Immune System. GO annotations related to this gene include ATPase activity and motor activity.

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

Products:

  1. Regulatory Element

Regulatory Elements for DYNC2H1 Gene

Enhancers for DYNC2H1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DYNC2H1 on UCSC Golden Path with GeneCards custom track

Promoters for DYNC2H1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DYNC2H1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the DYNC2H1 gene promoter:

Genomic Location for DYNC2H1 Gene

Chromosome:
11
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

Genes around DYNC2H1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DYNC2H1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DYNC2H1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for DYNC2H1 Gene

Proteins for DYNC2H1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for DYNC2H1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for DYNC2H1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DYNC2H1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DYNC2H1 Gene

Domains & Families for DYNC2H1 Gene

Gene Families for DYNC2H1 Gene

HGNC:

Protein Domains for DYNC2H1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DYNC2H1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NCM8

UniProtKB/Swiss-Prot:

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

Function for DYNC2H1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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).

Phenotypes for DYNC2H1 Gene

MGI mutant phenotypes for DYNC2H1:
inferred from 5 alleles
GenomeRNAi human phenotypes for DYNC2H1:
genes like me logo Genes that share phenotypes with DYNC2H1: view

Human Phenotype Ontology for DYNC2H1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for DYNC2H1 Gene

miRTarBase miRNAs that target DYNC2H1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets 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 (PubMed:8666668). {ECO:0000250 UniProtKB:Q9JJ79, 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
cytosol 5
extracellular 5
golgi apparatus 5
mitochondrion 3
nucleus 3
plasma membrane 3

Gene Ontology (GO) - Cellular Components for DYNC2H1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IDA 8666668
GO:0030286 dynein complex IEA --
GO:0045177 apical part of cell IEA --
GO:0070062 extracellular exosome IDA 19056867
GO:0097542 ciliary tip TAS --
genes like me logo Genes that share ontologies with DYNC2H1: view

Pathways & Interactions for DYNC2H1 Gene

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

Gene Ontology (GO) - Biological Process for DYNC2H1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007018 microtubule-based movement IEA --
GO:0007368 determination of left/right symmetry IEA --
GO:0009953 dorsal/ventral pattern formation IEA --
GO:0016485 protein processing IEA --
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS --
genes like me logo Genes that share ontologies with DYNC2H1: view

No data available for SIGNOR curated interactions for DYNC2H1 Gene

Drugs & Compounds for DYNC2H1 Gene

Products:

  1. Drug

(2) Drugs for DYNC2H1 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Etoposide Approved Pharma Topo II inhibitor, Topoisomerase 2 Inhibitors, Topoisomerase II inhibitor 1189
Platinum compounds Pharma 0
genes like me logo Genes that share compounds with DYNC2H1: view

Transcripts for DYNC2H1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

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:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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

Products:

  1. Primer

mRNA expression in normal human tissues for DYNC2H1 Gene

mRNA expression in normal human tissues for DYNC2H1 Gene
mRNA expression by BioGPS for DYNC2H1 GenemRNA expression by GTEx for DYNC2H1 Gene

Protein differential expression in normal tissues from HIPED for DYNC2H1 Gene

This gene is overexpressed in NK cells (37.2) and Monocytes (13.5).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with DYNC2H1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for DYNC2H1 Gene

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
cow
(Bos Taurus)
 Mammalia DYNC2H1 35
  • 91.49 (n)
  • 93.46 (a)
dog
(Canis familiaris)
 Mammalia DYNC2H1 35
  • 90.16 (n)
  • 94.19 (a)
DYNC2H1 36
  • 93 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Dync2h1 35
  • 87.1 (n)
  • 93.36 (a)
Dync2h1 16
Dync2h1 36
  • 93 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia DYNC2H1 35
  • 99.48 (n)
  • 99.49 (a)
DYNC2H1 36
  • 100 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Dync2h1 35
  • 86.9 (n)
  • 93.15 (a)
oppossum
(Monodelphis domestica)
 Mammalia DYNC2H1 36
  • 91 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia DYNC2H1 36
  • 88 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves DYNC2H1 35
  • 77.42 (n)
  • 79.78 (a)
DYNC2H1 36
  • 80 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia DYNC2H1 36
  • 82 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia dync2h1 35
  • 72.24 (n)
  • 76.7 (a)
zebrafish
(Danio rerio)
 Actinopterygii LOC100332402 35
  • 65.21 (n)
  • 72.51 (a)
CABZ01078919.1 36
  • 75 (a)
 OneToMany
DYNC2H1 (2 of 2) 36
  • 76 (a)
 OneToMany
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.1843 35
fruit fly
(Drosophila melanogaster)
 Insecta btv 36
  • 33 (a)
 OneToOne
worm
(Caenorhabditis elegans)
 Secernentea che-3 35
  • 51.7 (n)
  • 42.17 (a)
che-3 36
  • 42 (a)
 OneToOne
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes DYN1 36
  • 21 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 36
  • 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

(8) SIMAP similar genes for DYNC2H1 Gene using alignment to 4 proteins:

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

No data available for Paralogs for DYNC2H1 Gene

Variants for DYNC2H1 Gene

Sequence variations from dbSNP and Humsavar for DYNC2H1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs12803695 - 103,117,768(+) ATCTA(A/C)CAGGT reference, missense
rs12146610 - 103,117,775(+) AGGTC(A/T)GGTGT reference, missense
rs17301182 - 103,120,468(+) CAATT(C/T)ATGAG reference, missense
rs17099969 - 103,121,378(+) TTTTC(A/G/T)ATTAG reference, missense
rs7358374 - 103,135,740(+) ATTCA(A/G)GCCCC reference, missense

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

Variation tolerance for DYNC2H1 Gene

Residual Variation Intolerance Score: 55.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.15; 96.95% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DYNC2H1 Gene

Human Gene Mutation Database (HGMD)
DYNC2H1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DYNC2H1 Gene

Disorders for DYNC2H1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for DYNC2H1 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
short-rib thoracic dysplasia 3 with or without polydactyly
  • saldino-noonan syndrome
short-rib thoracic dysplasia 6 with or without polydactyly
  • short rib-polydactyly syndrome, type iia
asphyxiating thoracic dystrophy
  • ataxia telangiectasia
polydactyly
  • postaxial polydactyly
ellis-van creveld syndrome
  • chondroectodermal dysplasia
- elite association - COSMIC cancer census association via MalaCards

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}.

Relevant External Links for DYNC2H1

Genetic Association Database (GAD)
DYNC2H1
Human Genome Epidemiology (HuGE) Navigator
DYNC2H1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DYNC2H1
genes like me logo Genes that share disorders with DYNC2H1: view

No data available for Genatlas for DYNC2H1 Gene

Publications for DYNC2H1 Gene

  1. 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 67
  2. 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 23
  3. 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 23
  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. Genome-wide association study of selenium concentrations. (PMID: 25343990) Cornelis M.C. … He K. (Hum. Mol. Genet. 2015) 3

Products for DYNC2H1 Gene

Sources for DYNC2H1 Gene

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