ARHGAP10

Rho GTPase activating protein 10

Ensembl:
ENSG00000071205
UniProt:
A1A4S6
OMIM:
609746
Synonyms:
FLJ20896, FLJ41791, GRAF2

Cilia effects upon perturbation of ARHGAP10

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-0.87) PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
increased mean platelet volume; decreased body length; abnormal sternum morphology; abnormal skin morphology; enlarged lymph nodes; abnormal bone structure; abnormal ovary morphology

Ciliopathy associations

  • Nonsyndromic Tetralogy of Fallot

Subcellular localization

cell membrane, centrosome, cilia associated gene, cytosol, nuclear membrane, nucleoplasm

Functional category

  • Small GTPases

Function

Listed as novel Congenital Heart Disease (CHD) gene with Ciliopathy-like phenotypes, likely functions in Rho GTPase signaling pathway regulating the basal body/cilium(41280016).

Model organism evidence

Xenopus (1 reference)

Integrative Functional Genomics Identifies ARHGAP10 in the 4q31.2 Locus as a Novel Congenital Heart Disease and Ciliopathy Gene.

PMIDs: 41280016