InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-69415

dynein, cytoplasmic 2, heavy chain 1

IDBP-69417

dynein, cytoplasmic 2, heavy chain 1

IDBP-233837

dynein, cytoplasmic 2, heavy chain 1

IDBP-584505

dynein, cytoplasmic 2, heavy chain 1

IDBP-589004

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

ENSMUSG00000047193

View Gene Order

ENSBTAG00000019309

Not yet available

Pathways

NETPATH

REACTOME

REACT_121399

MHC class II antigen presentation pathway

REACT_228134

Signaling by Hedgehog pathway

REACT_111102

Signal Transduction pathway

REACT_267634

Hedgehog 'off' state pathway

REACT_75774

Adaptive Immune System pathway

REACT_6900

Immune System pathway

KEGG

hsa04962

Vasopressin-regulated water reabsorption pathway

hsa04145

Phagosome pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

H0YEX1

UniProt Splice Variant

Entrez Gene

79659

UniGene

Hs.503721

RefSeq

NM_001080463 NM_001377 XM_006718903

HUGO

HGNC:2962

OMIM

603297

CCDS

CCDS44717 CCDS53701

HPRD

IMGT

EMBL

AP000817 AP001486 AP002829 AP002961 AP003382 AP003461

GenPept

RNA Seq Atlas

79659