DYNC2H1

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]

Description

Dynein cytoplasmic 2 heavy chain 1

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Mitochondria, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

11 (103109410 - 103479863)

Ensembl ID

ENSG00000187240  (ver. 103.38)

Orthologs

Mouse Dync2h1: ENSMUSG00000047193

UniProt

Q8NCM8

neXtProt

NX_Q8NCM8

Human splice variants
Mouse splice variants

Protein structure