GNAT2

G protein subunit alpha transducin 2

Tier: Cilia-Associated Genes

Ensembl:: ENSG00000134183
UniProt:: P19087
OMIM:: 139340
Synonyms:: ACHM4

Ciliogenesis screen results (3 screens)

Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.17) PMID:26167766
Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Ciliopathy associations

Retinal Dystrophy/Degeneration

References: PMID:38278208

Subcellular localization

No ciliary localization reported (cilia-associated gene).

References: PMID:32687549

Functional category

Small GTPases; Motile cilium & axoneme; Non-motile cilium / primary cilium; Reproduction & sperm

Function

Homozygous tmem216 knockout zebrafish died before 21 days after fertilization. Their retina exhibited reduced immunoreactivity to rod photoreceptor outer segment marker 4D2 and cone photoreceptor outer segment marker G protein subunit α transducin 2 (GNAT2). Terminal deoxynucleotidyl transferase dUTP nick-end labeling (TUNEL) revealed an increase in TUNEL-positive nuclei in the knockout retina, indicating photoreceptor degeneration. The tmem216 mutation resulted in shortened photoreceptor ciliary axoneme, as revealed by acetylated α-tubulin immunostaining. Photoreceptors in knockout zebrafish exhibited mislocalization of outer segment proteins such as rhodopsin, GNAT2, and red opsin to the inner segment and cell bodies(PMID: 32687549).

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