RIT2
Ras like without CAAX 2, the group of RAS type GTPase family
Basic information
Region (hg38): 18:42743226-43115691
Previous symbols: [ "RIN" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (3 variants)
- not provided (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RIT2 gene is commonly pathogenic or not.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 3 | 3 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice variant | 1 | 1 | ||||
| non coding | 0 | |||||
| Total | 0 | 0 | 3 | 0 | 1 |
Variants in RIT2
This is a list of pathogenic ClinVar variants found in the RIT2 region.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 18-42743569-T-G | Inborn genetic diseases | Uncertain significance (Feb 16, 2023) | ||
| 18-42923585-T-C | Inborn genetic diseases | Uncertain significance (Mar 24, 2023) | ||
| 18-42923653-C-G | Inborn genetic diseases | Uncertain significance (Nov 18, 2022) | ||
| 18-42923770-GA-G | Benign (Aug 04, 2017) | |||
| 18-43115446-A-G | Inborn genetic diseases | Uncertain significance (Sep 01, 2021) | ||
| 18-43115491-G-T | Inborn genetic diseases | Uncertain significance (Nov 23, 2022) | ||
| 18-43115500-G-C | Inborn genetic diseases | Uncertain significance (May 24, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| RIT2 | protein_coding | protein_coding | ENST00000326695 | 5 | 372466 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.000632 | 0.747 | 125717 | 0 | 27 | 125744 | 0.000107 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.890 | 95 | 123 | 0.774 | 0.00000644 | 1441 |
| Missense in Polyphen | 32 | 58.793 | 0.54428 | 663 | ||
| Synonymous | 0.633 | 37 | 42.2 | 0.876 | 0.00000208 | 388 |
| Loss of Function | 0.950 | 6 | 9.09 | 0.660 | 3.81e-7 | 125 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000153 | 0.000149 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000164 | 0.000163 |
| Finnish | 0.000323 | 0.000323 |
| European (Non-Finnish) | 0.0000707 | 0.0000703 |
| Middle Eastern | 0.000164 | 0.000163 |
| South Asian | 0.0000327 | 0.0000327 |
| Other | 0.000658 | 0.000652 |
dbNSFP
Source:
- Function
- FUNCTION: Binds and exchanges GTP and GDP. Binds and modulates the activation of POU4F1 as gene expression regulator. {ECO:0000250|UniProtKB:P70425}.;
- Pathway
- Signal Transduction;Signalling to p38 via RIT and RIN;Signalling to ERKs;Signaling by NTRK1 (TRKA);Signaling by NTRKs;Signaling by Receptor Tyrosine Kinases;Neurotrophic factor-mediated Trk receptor signaling;Trk receptor signaling mediated by the MAPK pathway
(Consensus)
Recessive Scores
- pRec
- 0.287
Intolerance Scores
- loftool
- 0.685
- rvis_EVS
- 0.19
- rvis_percentile_EVS
- 66.57
Haploinsufficiency Scores
- pHI
- 0.934
- hipred
- Y
- hipred_score
- 0.809
- ghis
- 0.561
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.0282
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rit2
- Phenotype
Gene ontology
- Biological process
- MAPK cascade;adenylate cyclase-activating G protein-coupled receptor signaling pathway;small GTPase mediated signal transduction;Ras protein signal transduction;chemical synaptic transmission;positive regulation of neuron projection development;negative regulation of neuron projection development;regulation of endocytosis;regulation of Cdc42 protein signal transduction;maintenance of protein location in cell;intracellular signal transduction;positive regulation of MAPK cascade;positive regulation of transcription by RNA polymerase II;regulation of calcium-mediated signaling
- Cellular component
- nucleus;cytoplasm;plasma membrane;neuron projection;cell body;membrane raft;dendritic tree
- Molecular function
- chromatin binding;GTPase activity;protein binding;calmodulin binding;GTP binding;semaphorin receptor binding;identical protein binding