DNAH2

dynein axonemal heavy chain 2

Ensembl:
ENSG00000183914
UniProt:
Q9P225
OMIM:
603333
Synonyms:
DNHD3, FLJ46675, KIAA1503

Cilia effects upon perturbation of DNAH2

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:
germ cell defect, developmental dysplasia, hypospermia, hyperactivity, rhinitis, abnormal semil vesicle morphology, abnormal lymph node morphology, spermatogenesis defect
Mouse ciliopathy phenotype:
hydrocephalus, sinusitis, male infertility

Subcellular localization

cilia, flagella

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Metabolism
  • T cell biology
  • Reproduction & sperm
  • Cell migration & adhesion

Function

Component of axonemal inner dynein arm-f, essential for ciliary beat (30060180). D H2 mutation can cause severe sperm flagella defects that damage sperm motility (30811583).