Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6492
MIM: 603128
HGNC: 10882
Ensembl: ENSG00000112246
Variants:
dbSNP: 6492
ClinVar: 6492
TCGA: ENSG00000112246
COSMIC: SIM1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000112246 | ENST00000262901 | P81133 |
| ENSG00000112246 | ENST00000369208 | P81133 |
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38532463 | 2024 | STIM1/SOX2 proteins are co-expressed in the tumor and microenvironmental stromal cells of pancreatic ductal adenocarcinoma and ampullary carcinoma. | 0 |
| 38532463 | 2024 | STIM1/SOX2 proteins are co-expressed in the tumor and microenvironmental stromal cells of pancreatic ductal adenocarcinoma and ampullary carcinoma. | 0 |
| 32932609 | 2020 | Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain. | 3 |
| 32932609 | 2020 | Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain. | 3 |
| 29063719 | 2018 | Aberrant single-minded homolog 1 methylation as a potential biomarker for cervical cancer. | 9 |
| 30297428 | 2018 | Genetic variation in the SIM1 locus is associated with erectile dysfunction. | 9 |
| 29063719 | 2018 | Aberrant single-minded homolog 1 methylation as a potential biomarker for cervical cancer. | 9 |
| 30297428 | 2018 | Genetic variation in the SIM1 locus is associated with erectile dysfunction. | 9 |
| 28472148 | 2017 | Genetic analysis of single-minded 1 gene in early-onset severely obese children and adolescents. | 3 |
| 28593922 | 2017 | Copy number variations in "classical" obesity candidate genes are not frequently associated with severe early-onset obesity in children. | 0 |
| 28472148 | 2017 | Genetic analysis of single-minded 1 gene in early-onset severely obese children and adolescents. | 3 |
| 28593922 | 2017 | Copy number variations in "classical" obesity candidate genes are not frequently associated with severe early-onset obesity in children. | 0 |
| 26795956 | 2016 | Copy number variation (CNV) analysis and mutation analysis of the 6q14.1-6q16.3 genes SIM1 and MRAP2 in Prader Willi like patients. | 11 |
| 26795956 | 2016 | Copy number variation (CNV) analysis and mutation analysis of the 6q14.1-6q16.3 genes SIM1 and MRAP2 in Prader Willi like patients. | 11 |
| 25351778 | 2015 | Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1. | 12 |
Citation
Dessen P
SIM1 (SIM bHLH transcription factor 1)
Atlas Genet Cytogenet Oncol Haematol. 2013-05-01
Online version: http://atlasgeneticsoncology.org/gene/53285/sim1
