Homo sapiens Gene: DYNC2H1
Summary
InnateDB Gene IDBG-69413.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DYNC2H1
Gene Name dynein, cytoplasmic 2, heavy chain 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000187240
Encoded Proteins
dynein, cytoplasmic 2, heavy chain 1
dynein, cytoplasmic 2, heavy chain 1
dynein, cytoplasmic 2, heavy chain 1
dynein, cytoplasmic 2, heavy chain 1
dynein, cytoplasmic 2, heavy chain 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:103109431-103479863
Strand Forward strand
Band q22.3
Transcripts
ENST00000334267 ENSP00000334021
ENST00000375735 ENSP00000364887
ENST00000398093 ENSP00000381167
ENST00000533027
ENST00000525306
ENST00000528670 ENSP00000433451
ENST00000533197 ENSP00000436736
ENST00000530547
ENST00000527252
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein-Protein 8 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003774 motor activity
GO:0003777 microtubule motor activity
GO:0005524 ATP binding
GO:0016887 ATPase activity
Biological Process
GO:0006200 ATP catabolic process
GO:0007018 microtubule-based movement
GO:0007030 Golgi organization
GO:0007368 determination of left/right symmetry
GO:0008105 asymmetric protein localization
GO:0008152 metabolic process
GO:0009953 dorsal/ventral pattern formation
GO:0016485 protein processing
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II
GO:0021522 spinal cord motor neuron differentiation
GO:0030182 neuron differentiation
GO:0030326 embryonic limb morphogenesis
GO:0030900 forebrain development
GO:0035721 intraciliary retrograde transport
GO:0042384 cilium assembly
GO:0045880 positive regulation of smoothened signaling pathway
GO:0060271 cilium morphogenesis
Cellular Component
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0005874 microtubule
GO:0005886 plasma membrane
GO:0005930 axoneme
GO:0030286 dynein complex
GO:0031512 motile primary cilium
GO:0045177 apical part of cell
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
MHC class II antigen presentation pathway
Signaling by Hedgehog pathway
Signal Transduction pathway
Hedgehog 'off' state pathway
Adaptive Immune System pathway
Immune System pathway
KEGG
Phagosome pathway
Vasopressin-regulated water reabsorption pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.503721
RefSeq NM_001080463 NM_001377 XM_006718903
HUGO
OMIM
CCDS CCDS44717 CCDS53701
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas