Gene: SREBF2

Alternate names for this Gene: SREBP-2|SREBP2|bHLHd2

Gene Summary: This gene encodes a member of the a ubiquitously expressed transcription factor that controls cholesterol homeostasis by regulating transcription of sterol-regulated genes. The encoded protein contains a basic helix-loop-helix-leucine zipper (bHLH-Zip) domain and binds the sterol regulatory element 1 motif. Alternate splicing results in multiple transcript variants.

Gene is located in Chromosome: 22

Location in Chromosome : 22q13.2

Description of this Gene: sterol regulatory element binding transcription factor 2

Type of Gene: protein-coding

rs62240962 in SREBF2 gene and Birth Weight PMID 27680694 2016 Genome-wide associations for birth weight and correlations with adult disease.

rs5996074 in SREBF2 gene and Body mass index procedure PMID 23001569 2013 At an array-wide significance (P < 2.40E-06), we identify novel BMI associations in loci translocase of outer mitochondrial membrane 40 homolog (yeast) - apolipoprotein E - apolipoprotein C-I (TOMM40-APOE-APOC1) (rs2075650, P = 2.95E-10), sterol regulatory element binding transcription factor 2 (SREBF2, rs5996074, P = 9.43E-07) and neurotrophic tyrosine kinase, receptor, type 2 [NTRK2, a brain-derived neurotrophic factor (BDNF) receptor gene, rs1211166, P = 1.04E-06] in the Phase IV meta-analysis.

rs5996074 in SREBF2 gene and Esophageal Neoplasms PMID 22960999 2012 Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.

rs5996074 in SREBF2 gene and Finding of body mass index PMID 23001569 2013 Gene-centric meta-analyses of 108 912 individuals confirm known body mass index loci and reveal three novel signals.

rs12170228 in SREBF2 gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

PMID 29942086 2018 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.

rs80094991 in SREBF2 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.