RASSF2
Ras association domain family member 2, the group of Ras association domain family
Basic information
Region (hg38): 20:4780022-4823608
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RASSF2 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 16 | 16 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 16 | 0 | 0 |
Variants in RASSF2
This is a list of pathogenic ClinVar variants found in the RASSF2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 20-4784299-T-G | not specified | Uncertain significance (May 26, 2024) | ||
| 20-4784335-C-T | not specified | Uncertain significance (Aug 26, 2022) | ||
| 20-4786234-C-T | not specified | Uncertain significance (Dec 07, 2021) | ||
| 20-4786300-G-A | not specified | Uncertain significance (Nov 17, 2023) | ||
| 20-4786303-A-T | not specified | Uncertain significance (Sep 16, 2021) | ||
| 20-4787737-C-A | not specified | Uncertain significance (Mar 21, 2024) | ||
| 20-4789631-G-A | not specified | Uncertain significance (Jun 07, 2024) | ||
| 20-4789672-C-A | not specified | Uncertain significance (Aug 17, 2021) | ||
| 20-4790533-C-T | not specified | Uncertain significance (Dec 20, 2023) | ||
| 20-4790537-G-A | not specified | Uncertain significance (Dec 06, 2021) | ||
| 20-4792598-T-C | not specified | Uncertain significance (Feb 10, 2022) | ||
| 20-4792608-T-A | not specified | Uncertain significance (Sep 30, 2021) | ||
| 20-4795875-C-T | not specified | Uncertain significance (Sep 20, 2023) | ||
| 20-4795902-C-T | not specified | Uncertain significance (Jul 14, 2021) | ||
| 20-4795911-C-T | not specified | Uncertain significance (Oct 20, 2021) | ||
| 20-4798015-G-C | not specified | Uncertain significance (Jun 21, 2022) | ||
| 20-4798021-G-A | not specified | Uncertain significance (Jan 29, 2024) | ||
| 20-4798056-T-C | not specified | Uncertain significance (Jan 26, 2022) | ||
| 20-4801021-T-C | not specified | Uncertain significance (Jan 24, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| RASSF2 | protein_coding | protein_coding | ENST00000379400 | 10 | 43623 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 5.06e-7 | 0.862 | 125717 | 0 | 31 | 125748 | 0.000123 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.900 | 164 | 200 | 0.821 | 0.0000129 | 2114 |
| Missense in Polyphen | 63 | 74.055 | 0.85072 | 742 | ||
| Synonymous | 0.247 | 73 | 75.7 | 0.964 | 0.00000445 | 629 |
| Loss of Function | 1.54 | 13 | 20.5 | 0.634 | 0.00000119 | 215 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000244 | 0.000242 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.000142 | 0.000141 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.000327 | 0.000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Potential tumor suppressor. Acts as a KRAS-specific effector protein. May promote apoptosis and cell cycle arrest. Stabilizes STK3/MST2 by protecting it from proteasomal degradation. {ECO:0000269|PubMed:12732644, ECO:0000269|PubMed:16012945, ECO:0000269|PubMed:19525978}.;
- Pathway
- Hippo signaling pathway - multiple species - Homo sapiens (human)
(Consensus)
Recessive Scores
- pRec
- 0.128
Intolerance Scores
- loftool
- 0.875
- rvis_EVS
- -0.2
- rvis_percentile_EVS
- 38.82
Haploinsufficiency Scores
- pHI
- 0.105
- hipred
- Y
- hipred_score
- 0.598
- ghis
- 0.525
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.969
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rassf2
- Phenotype
- cellular phenotype; endocrine/exocrine gland phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; growth/size/body region phenotype; skeleton phenotype; immune system phenotype; liver/biliary system phenotype;
Gene ontology
- Biological process
- skeletal system development;ossification;protein phosphorylation;cell cycle;positive regulation of protein autophosphorylation;negative regulation of peptidyl-serine phosphorylation;epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade;positive regulation of apoptotic process;regulation of osteoblast differentiation;regulation of osteoclast differentiation;positive regulation of protein kinase activity;positive regulation of JNK cascade;bone remodeling;homeostasis of number of cells;protein stabilization;negative regulation of NIK/NF-kappaB signaling
- Cellular component
- kinetochore;condensed chromosome kinetochore;nucleus;nucleoplasm;cytoplasm;Golgi apparatus;cytosol;plasma membrane;protein-containing complex
- Molecular function
- protein kinase activity;protein binding