SIM1 (SIM bHLH transcription factor 1)

2013-05-01  

Identity

HGNC
LOCATION
6q16.3
LOCUSID
ALIAS
bHLHe14
FUSION GENES

Other Information

Locus ID:

NCBI: 6492
MIM: 603128
HGNC: 10882
Ensembl: ENSG00000112246

Variants:

dbSNP: 6492
ClinVar: 6492
TCGA: ENSG00000112246
COSMIC: SIM1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000112246ENST00000262901P81133
ENSG00000112246ENST00000369208P81133

Expression (GTEx)

0
1
2
3
4
5
6

References

Pubmed IDYearTitleCitations
202200152010Postnatal Sim1 deficiency causes hyperphagic obesity and reduced Mc4r and oxytocin expression.59
237781392013Rare variants in single-minded 1 (SIM1) are associated with severe obesity.43
167096102006SIM1 overexpression partially rescues agouti yellow and diet-induced obesity by normalizing food intake.38
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
237781362013Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features.30
229307472012Genome-wide methylation screen in low-grade breast cancer identifies novel epigenetically altered genes as potential biomarkers for tumor diagnosis.29
121616022002Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype.28
194014192009Common variation in SIM1 is reproducibly associated with BMI in Pima Indians.24
194014192009Common variation in SIM1 is reproducibly associated with BMI in Pima Indians.24
190545712009Polymorphisms in genes involved in neurodevelopment may be associated with altered brain morphology in schizophrenia: preliminary evidence.18

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