KSR2
Basic information
Region (hg38): 12:117453011-117968990
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (63 variants)
- KSR2-related condition (32 variants)
- Inborn genetic diseases (20 variants)
- not specified (4 variants)
- 6 conditions (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the KSR2 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 | 10 | 16 | 27 | |||
missense | 56 | 62 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 1 | |||||
inframe indel | 1 | |||||
splice donor/acceptor (+/-2bp) | 1 | |||||
splice region ? | 1 | 2 | 1 | 4 | ||
non coding ? | 10 | 17 | ||||
Total | 0 | 2 | 58 | 24 | 25 |
Variants in KSR2
This is a list of pathogenic ClinVar variants found in the KSR2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
12-117467213-G-A | KSR2-related disorder | Likely benign (Oct 04, 2023) | ||
12-117469644-T-C | Benign (Jan 31, 2024) | |||
12-117469652-G-A | KSR2-related disorder | Likely benign (Jan 09, 2024) | ||
12-117469679-A-G | Likely benign (Dec 10, 2021) | |||
12-117469698-C-T | KSR2-related disorder | Uncertain significance (Sep 01, 2023) | ||
12-117469751-A-G | not specified • KSR2-related disorder | Benign (Jan 22, 2024) | ||
12-117469806-C-T | Likely benign (Oct 26, 2022) | |||
12-117471192-G-A | KSR2-related disorder | Benign/Likely benign (Jul 01, 2023) | ||
12-117471227-G-A | KSR2-related disorder | Likely benign (Jan 18, 2024) | ||
12-117471271-G-A | KSR2-related disorder | Uncertain significance (Mar 02, 2024) | ||
12-117471308-A-G | KSR2-related disorder | Likely benign (May 26, 2021) | ||
12-117476469-G-A | KSR2-related disorder | Likely benign (Dec 16, 2021) | ||
12-117476514-T-C | KSR2-related disorder | Likely benign (Mar 26, 2023) | ||
12-117476519-C-T | KSR2-related disorder | Uncertain significance (Feb 10, 2024) | ||
12-117476520-G-A | KSR2-related disorder | Likely benign (Dec 25, 2023) | ||
12-117476534-G-A | 6 conditions | Uncertain significance (Jan 10, 2022) | ||
12-117476559-T-G | KSR2-related disorder | Likely benign (Dec 12, 2022) | ||
12-117476574-G-A | KSR2-related disorder | Likely benign (Jun 17, 2021) | ||
12-117476593-C-T | KSR2-related disorder | Uncertain significance (Dec 07, 2023) | ||
12-117476594-G-A | Uncertain significance (Jan 11, 2024) | |||
12-117476598-G-A | KSR2-related disorder | Benign (Aug 14, 2023) | ||
12-117484478-G-A | KSR2-related disorder | Likely benign (Jul 03, 2022) | ||
12-117484529-G-C | Likely benign (Oct 03, 2023) | |||
12-117484563-G-C | Benign (Sep 10, 2023) | |||
12-117484567-C-T | Likely benign (Aug 05, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
KSR2 | protein_coding | protein_coding | ENST00000339824 | 20 | 515972 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
1.00 | 7.85e-7 | 124647 | 0 | 8 | 124655 | 0.0000321 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 3.34 | 374 | 605 | 0.618 | 0.0000395 | 6217 |
Missense in Polyphen | 86 | 198.96 | 0.43226 | 2082 | ||
Synonymous | 1.54 | 226 | 257 | 0.878 | 0.0000182 | 1871 |
Loss of Function | 6.15 | 2 | 48.0 | 0.0417 | 0.00000239 | 535 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000291 | 0.0000291 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000112 | 0.000111 |
Finnish | 0.0000464 | 0.0000464 |
European (Non-Finnish) | 0.0000358 | 0.0000354 |
Middle Eastern | 0.000112 | 0.000111 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Location-regulated scaffold connecting MEK to RAF. Has very low protein kinase activity and can phosphorylate MAP2K1 at several Ser and Thr residues with very low efficiency (in vitro). Interaction with BRAF enhances KSR2-mediated phosphorylation of MAP2K1 (in vitro). Blocks MAP3K8 kinase activity and MAP3K8- mediated signaling. Acts as a negative regulator of MAP3K3- mediated activation of ERK, JNK and NF-kappa-B pathways, inhibiting MAP3K3-mediated interleukin-8 production. {ECO:0000269|PubMed:12975377, ECO:0000269|PubMed:16039990, ECO:0000269|PubMed:21441910}.;
- Pathway
- Ras signaling pathway - Homo sapiens (human);EGF-Ncore;TNF alpha Signaling Pathway;Ras Signaling;MAP2K and MAPK activation;Disease;Signal Transduction;RAF/MAP kinase cascade;MAPK1/MAPK3 signaling;MAPK family signaling cascades;Signaling by RAS mutants;Signaling by high-kinase activity BRAF mutants;Signaling by moderate kinase activity BRAF mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF;Signaling by BRAF and RAF fusions;Oncogenic MAPK signaling;Diseases of signal transduction
(Consensus)
Recessive Scores
- pRec
- 0.120
Haploinsufficiency Scores
- pHI
- 0.408
- hipred
- Y
- hipred_score
- 0.768
- ghis
- 0.549
Essentials
- essential_gene_CRISPR
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.996
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Ksr2
- Phenotype
- growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan);
Gene ontology
- Biological process
- protein phosphorylation;Ras protein signal transduction;calcium-mediated signaling;positive regulation of cold-induced thermogenesis
- Cellular component
- cytosol;plasma membrane
- Molecular function
- protein serine/threonine kinase activity;protein binding;ATP binding;metal ion binding