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
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11q22.3 Start 103,109,410 bp[1] End 103,479,863 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9 A1|9 Start 6,928,503 bp[2] End 7,184,446 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte bronchial epithelial cell right uterine tube Achilles tendon anterior pituitary tibia canal of the cervix tibial nerve stromal cell of endometrium gastric mucosa Top expressed in spermatocyte spermatid otolith organ utricle superior cervical ganglion seminiferous tubule respiratory epithelium olfactory epithelium lens renal corpuscle More reference expression data BioGPS 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 Species Human Mouse Entrez 79659 110350 Ensembl ENSG00000187240 ENSMUSG00000047193 UniProt Q8NCM8 Q45VK7 RefSeq (mRNA) NM_001080463 NM_001377 NM_024606 NM_029851 NM_001364519 NM_138307 RefSeq (protein) NP_001073932 NP_001368 NP_084127 NP_001351448 Location (UCSC) Chr 11: 103.11 – 103.48 Mb Chr 9: 6.93 – 7.18 Mb PubMed search [3] [4]
Wikidata
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Cytoplasmic dynein 2 heavy chain 1 is a protein that in humans is encoded by the DYNC2H1 gene.^[5][6][7]

It is associated with Short rib-polydactyly syndrome type 3.^[8]

It is also associated with Asphyxiating thoracic dysplasia.^[9]