DYNC2H1

DYNC2H1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4RH7
Identifiers
Aliases	DYNC2H1, ATD3, DHC1b, DHC2, DNCH2, DYH1B, SRPS2B, SRTD3, hdhc11, dynein cytoplasmic 2 heavy chain 1
External IDs	OMIM: 603297; MGI: 107736; HomoloGene: 14468; GeneCards: DYNC2H1; OMA:DYNC2H1 - orthologs
Gene location (Human)
Chr.	Chromosome 11 (human)
End	103,479,863 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	7,184,446 bp
RNA expression pattern
	Top expressed in
	secondary oocyte; ; bronchial epithelial cell; ; right uterine tube; ; Achilles tendon; ; olfactory zone of nasal mucosa; ; mucosa of paranasal sinus; ; anterior pituitary; ; tibia; ; ventricular zone; ; testicle;
	Top expressed in
	spermatocyte; ; spermatid; ; otolith organ; ; utricle; ; superior cervical ganglion; ; seminiferous tubule; ; respiratory epithelium; ; olfactory epithelium; ; lens; ; tail of embryo;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	microtubule motor activity; nucleotide binding; ATPase activity; cytoskeletal motor activity; ATP binding; minus-end-directed microtubule motor activity; dynein light chain binding; dynein intermediate chain binding; dynein light intermediate chain binding;
Cellular component	cytoplasm; Golgi apparatus; cell projection; membrane; plasma membrane; ciliary tip; dynein complex; microtubule; extracellular exosome; cytoskeleton; cilium; cytoplasmic dynein complex; apical part of cell; axoneme; motile cilium;
Biological process	Golgi organization; multicellular organism development; microtubule-based movement; cell projection organization; intraciliary transport involved in cilium assembly; determination of left/right symmetry; heart development; dorsal/ventral pattern formation; protein processing; spinal cord motor neuron differentiation; neuron differentiation; embryonic limb morphogenesis; forebrain development; positive regulation of smoothened signaling pathway; coronary vasculature development; non-motile cilium assembly; intraciliary retrograde transport; cilium assembly; protein localization to cilium;
	Sources:Amigo / QuickGO
Orthologs
	79659
	110350
	ENSG00000187240
	ENSMUSG00000047193
	Q8NCM8
	Q45VK7
	NM_001080463; NM_001377; NM_024606
	NM_029851; NM_001364519; NM_138307
	NP_001073932; NP_001368
	NP_084127; NP_001351448
	Wikidata
View/Edit Human	View/Edit Mouse

Cytoplasmic dynein 2 heavy chain 1 is a protein that in humans is encoded by the DYNC2H1 gene.

It is associated with Short rib-polydactyly syndrome type 3.

It is also associated with Asphyxiating thoracic dysplasia.