ARMC2

armadillo repeat containing 2

Tier: Gold Standard Ciliary Genes

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

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
Human ciliopathy phenotype:: male infertility with teratozoospermia due to single gene mutation

Ciliopathy associations

Male Infertility

References: PMID:35543806

Subcellular localization

flagella

References: PMID:41410385, PMID:30686508

Functional category

Ciliary assembly/disassembly
Actin & cytoskeleton regulation
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).

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