ARMC2

armadillo repeat containing 2

Ensembl:
ENSG00000118690
UniProt:
Q8NEN0
OMIM:
618424
Synonyms:
BA787I22.1, DKFZP434P0714

Cilia effects upon perturbation of ARMC2

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • 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:
increased neutrophil cell number, preweaning lethality, complete penetrance, embryonic lethality prior to tooth bud stage, decreased circulating fructosamine level, decreased circulating serum albumin level
Mouse ciliopathy phenotype:
increased circulating alanine transamise level, increased circulating aspartate transamise level
Human ciliopathy phenotype:
male infertility with teratozoospermia due to single gene mutation

Ciliopathy associations

  • Male Infertility

Subcellular localization

flagella

Functional category

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

Function

Required for sperm flagellum formation. Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice(30686508).

Model organism evidence

Mus musculus (1 reference)

Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice.

PMIDs: 30686508