Gene: RIT1

Alternate names for this Gene: NS8|RIBB|RIT|ROC1

Gene Summary: This gene encodes a member of a subfamily of Ras-related GTPases. The encoded protein is involved in regulating p38 MAPK-dependent signaling cascades related to cellular stress. This protein also cooperates with nerve growth factor to promote neuronal development and regeneration. Alternate splicing results in multiple transcript variants.

Gene is located in Chromosome: 1

Location in Chromosome : 1q22

Description of this Gene: Ras like without CAAX 1

Type of Gene: protein-coding

rs670523 in RIT1 gene and Birth Weight PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

rs670523 in RIT1 gene and Crohn Disease PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

rs869025195 in RIT1 gene and Dysmorphic features PMID 25049390 2014 Next-generation sequencing identifies rare variants associated with Noonan syndrome.

PMID 27109146 2016 Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.

PMID 25124994 2014 Further evidence of the importance of RIT1 in Noonan syndrome.

PMID 23791108 2013 Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.

PMID 20876176 2010 Noonan syndrome: clinical features, diagnosis, and management guidelines.

PMID 24939608 2014 Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity.

PMID 25959749 2016 Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype.

PMID 27101134 2016 Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.

PMID 26714497 2016 Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.

PMID 26757980 2016 Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.

rs3856261 in RIT1 gene and Eczema PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs670523 in RIT1 gene and Inflammatory Bowel Diseases PMID 23128233 2012 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.

rs869025195 in RIT1 gene and Multiple congenital anomalies PMID 24939608 2014 Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity.

PMID 25959749 2016 Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype.

PMID 23791108 2013 Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.

PMID 25049390 2014 Next-generation sequencing identifies rare variants associated with Noonan syndrome.

PMID 26714497 2016 Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.

PMID 26757980 2016 Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.

PMID 27101134 2016 Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.

PMID 25124994 2014 Further evidence of the importance of RIT1 in Noonan syndrome.

PMID 27109146 2016 Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.

PMID 20876176 2010 Noonan syndrome: clinical features, diagnosis, and management guidelines.

rs1557962794 in RIT1 gene and NOONAN SYNDROME 8 PMID 27101134 2016 Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.

PMID 27109146 2016 Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.

PMID 25959749 2016 Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype.

PMID 23791108 2013 Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.

PMID 24939608 2014 Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity.

PMID 25049390 2014 Next-generation sequencing identifies rare variants associated with Noonan syndrome.

PMID 26757980 2016 Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.

PMID 27226556 2016 Biochemical Classification of Disease-associated Mutants of RAS-like Protein Expressed in Many Tissues (RIT1).

PMID 24901346 2014 The usefulness of whole-exome sequencing in routine clinical practice.

PMID 26714497 2016 Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.

PMID 25124994 2014 Further evidence of the importance of RIT1 in Noonan syndrome.

PMID 2439608 1987 Lichenoid tissue reaction (LTR) induced by local transfer of Ia-reactive T-cell clones. II. LTR by epidermal invasion of cytotoxic lymphokine-producing autoreactive T cells.

PMID 26242988 2016 The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome.

PMID 24469055 2014 Oncogenic RIT1 mutations in lung adenocarcinoma.

PMID 26446362 2016 Recent advances in RASopathies.

PMID 2657980 1989 [Bone marrow transplantation: principles, indications and results].

rs483352822 in RIT1 gene and Noonan Syndrome PMID 24803665 2014 Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

PMID 23791108 2013 Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.

PMID 26757980 2016 Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.

PMID 25959749 2016 Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype.

PMID 24469055 2014 Oncogenic RIT1 mutations in lung adenocarcinoma.

PMID 26714497 2016 Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.

PMID 24939608 2014 Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity.

PMID 25124994 2014 Further evidence of the importance of RIT1 in Noonan syndrome.

PMID 25049390 2014 Next-generation sequencing identifies rare variants associated with Noonan syndrome.

PMID 24901346 2014 The usefulness of whole-exome sequencing in routine clinical practice.

rs3856261 in RIT1 gene and White Blood Cell Count procedure PMID 21738479 2011 Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT).