DYNC2H1, Official Symbol DYNC2H1provided by HGNC Official Full Name dynein cytoplasmic 2 heavy chain 1provided by HGNC Primary source HGNC:HGNC:2962 See related Ensembl:ENSG00000187240 MIM:603297; AllianceGenome:HGNC:2962 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ATD3; DHC2; DHC1b; DNCH2; DYH1B; SRTD3; SRPS2B; hdhc11 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] Expression Broad expression in testis (RPKM 4.1), thyroid (RPKM 3.0) and 23 other tissues See more Orthologs mouse all