SOS2 |
Gene Facts External Data Attribution
- HGNC Symbol
- SOS2 (HGNC:11188) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- SOS Ras/Rho guanine nucleotide exchange factor 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- No aliases found
- %HI
- 16.91(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.42(Read more about gnomAD LOEUF score)
- Cytoband
- 14q21.3
- Genomic Coordinates
-
GRCh37/hg19: chr14:50583848-50698296 NCBI Ensembl UCSC GRCh38/hg38: chr14:50117130-50231882 NCBI Ensembl UCSC - MANE Select Transcript
- NM_006939.4 ENST00000216373.10 (Read more about MANE Select)
- Function
- Promotes the exchange of Ras-bound GDP by GTP. {ECO:0000250|UniProtKB:Q62245}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-26581
Curation Status:
Under Primary Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Primary Review
Triplosensitivity:
Under Primary Review
Last Evaluated:
Under Primary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000014.8)
(NC_000014.9)