ANKMY2

ankyrin repeat and MYND domain containing 2

Ensembl:
ENSG00000106524
UniProt:
Q8IV38
Synonyms:
DKFZP564O043, ZMYND20

Cilia effects upon perturbation of ANKMY2

Loss-of-function effect:
Shorter cilia

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
abnormal embryo development, abnormal embryo size, embryonic growth retardation, abnormal forebrain development, abnormal somite shape, preweaning lethality, complete penetrance, abnormal placenta development, pretal lethality prior to heart atrial septation, abnormal placenta size, abnormal hindbrain development, abnormal neural tube morphology, abnormal pharyngeal arch morphology, pallor, abnormal vitelline vasculature morphology
Mouse ciliopathy phenotype:
abnormal heart morphology, abnormal neural tube closure, abnormal midbrain development, abnormal embryo turning

Subcellular localization

cilia

Functional category

  • Ciliary assembly/disassembly
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

DAF-25(C. elegans ortholog of mammalian Ankmy2), which localizes to sensory cilia, is required for proper DAF-11 ciliary localization, mouse Ankmy2 interacts with guanylyl cyclase GC1 from ciliary photoreceptors, ciliary localization of DAF-25 itself is influenced in che-11 mutants (21124868)

Model organism evidence

Mus musculus (4 references)

We studied an Ankyrin repeat and MYND domain protein, ANKMY2 that we previously implicated in maturation and ciliary localization of adenylyl cyclases in fibroblasts.

The primary cilium is a paradigmatic organelle for compartmentalized subcellular signaling.

PMIDs: 40501923, 37943875, 32702291, 21124868

C. elegans (2 references)

Ciliopathy proteins establish a bipartite signaling compartment in a C.

The daf-25 dauer phenotype is suppressed by daf-10/IFT122 mutations (which disrupt ciliogenesis), but not by daf-6/PTCHD3 mutations (which prevent environmental exposure of sensory cilia), implying that DAF-25 functions in the cilia themselves.

PMIDs: 25335890, 21124868