AlphaFold predicted structure
ARHGAP35 · Q9NRY4

Mean pLDDT
73.4/ 100
Confident
1,499 residues
Confidence breakdown
- Very high(≥ 90)42%
- Confident(70–90)26%
- Low(50–70)7%
- Very low(< 50)25%
AlphaFold (Jumper et al., 2021) · CC BY 4.0
Rho GTPase activating protein 35
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHypogonadotropic hypogonadism (GMS)
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedStructural eye disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedendometrial cancer
neurodevelopmental disorder
squamous cell lung carcinoma
Cataract - intellectual disability - hypogonadism
Anophthalmia
breast ductal adenocarcinoma
microphthalmia
hypogonadotropic hypogonadism
coloboma
melanoma
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Rho GTPase-activating protein 35
Rho GTPase-activating protein (GAP) (PubMed:19673492, PubMed:28894085). Binds several acidic phospholipids which inhibits the Rho GAP activity to promote the Rac GAP activity (PubMed:19673492). This binding is inhibited by phosphorylation by PRKCA (PubMed:19673492). Involved in cell differentiation as well as cell adhesion and migration, plays an important role in retinal tissue morphogenesis, neural tube fusion, midline fusion of the cerebral hemispheres and mammary gland branching morphogenesis (By similarity). Transduces signals from p21-ras to the nucleus, acting via the ras GTPase-activating protein (GAP) (By similarity). Transduces SRC-dependent signals from cell-surface adhesion molecules, such as laminin, to promote neurite outgrowth. Regulates axon outgrowth, guidance and fasciculation (By similarity). Modulates Rho GTPase-dependent F-actin polymerization, organization and assembly, is involved in polarized cell migration and in the positive regulation of ciliogenesis and cilia elongation (By similarity). During mammary gland development, is required in both the epithelial and stromal compartments for ductal outgrowth (By similarity). Represses transcription of the glucocorticoid receptor by binding to the cis-acting regulatory sequence 5'-GAGAAAAGAAACTGGAGAAACTC-3'; this function is however unclear and would need additional experimental evidences (PubMed:1894621)
Curated MONDO disease pages that list ARHGAP35 among their top associated genes.
ARHGAP35 · Q9NRY4

Mean pLDDT
73.4/ 100
Confident
1,499 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0