Gene: RREB1
Alternate names for this Gene: FINB|HNT|LZ321|RREB-1|Zep-1
Gene Summary: The protein encoded by this gene is a zinc finger transcription factor that binds to RAS-responsive elements (RREs) of gene promoters. It has been shown that the calcitonin gene promoter contains an RRE and that the encoded protein binds there and increases expression of calcitonin, which may be involved in Ras/Raf-mediated cell differentiation. Multiple transcript variants encoding several different isoforms have been found for this gene.
Gene is located in Chromosome: 6
Location in Chromosome : 6p24.3
Description of this Gene: ras responsive element binding protein 1
Type of Gene: protein-coding
rs11755724 in
RREB1 gene and
Age related macular degeneration
PMID 20385826 2010 Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).
rs11755724 in
RREB1 gene and
Arthritis, Gouty
PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
PMID 20884846 2010 Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.
rs9379084 in
RREB1 gene and
Birth Weight
PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.
rs1334577 in
RREB1 gene and
Blood basophil count (lab test)
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs9379084 in
RREB1 gene and
Body Height
PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.
PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs2714337 in
RREB1 gene and
Body mass index
PMID 22581228 2012 A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
PMID 27918534 2017 Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyte development and differentiation.
rs11755724 in
RREB1 gene and
Chronic Lymphocytic Leukemia
PMID 31407831 2019 Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes.
rs1334576 in
RREB1 gene and
Chronic Obstructive Airway Disease
PMID 30804561 2019 Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations.
rs35742417 in
RREB1 gene and
Diabetes Mellitus, Non-Insulin-Dependent
PMID 29632382 2018 Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
PMID 30718926 2019 Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population.
rs17762454 in
RREB1 gene and
Fasting blood glucose measurement
PMID 22885924 2012 Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.
PMID 22581228 2012 A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
PMID 25625282 2015 Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus.
rs17762454 in
RREB1 gene and
Fasting blood sugar result
PMID 22885924 2012 Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.
rs11755724 in
RREB1 gene and
Glomerular Filtration Rate
PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.
PMID 29124443 2018 Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.
PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.
rs11755724 in
RREB1 gene and
Gout
PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
PMID 20884846 2010 Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.
rs75757892 in
RREB1 gene and
Hematocrit procedure
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs143231463 in
RREB1 gene and
Hyperuricemia
PMID 29124443 2018 Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.
rs141635364 in
RREB1 gene and
Kidney Failure, Chronic
PMID 29124443 2018 Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.
rs1285886 in
RREB1 gene and
Lymphocyte Count measurement
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs557074 in
RREB1 gene and
Monocyte count procedure
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs557074 in
RREB1 gene and
Monocyte count result
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs11755724 in
RREB1 gene and
Multiple Sclerosis
PMID 31407831 2019 Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes.
rs1334577 in
RREB1 gene and
Neutrophil count (procedure)
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs77630070 in
RREB1 gene and
Oral Ulcer
PMID 30837455 2019 Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci.
rs557074 in
RREB1 gene and
Parkinson Disease
PMID 17052657 2006 Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data.
rs75757892 in
RREB1 gene and
Red Blood Cell Count measurement
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs57996771 in
RREB1 gene and
Reticulocyte count (procedure)
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs6935691 in
RREB1 gene and
Serum albumin measurement
PMID 23281178 2013 A genome-wide assessment of variability in human serum metabolism.
rs11755724 in
RREB1 gene and
Small Lymphocytic Lymphoma
PMID 31407831 2019 Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes.
rs12530084 in
RREB1 gene and
Uric acid measurement (procedure)
PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.
PMID 29124443 2018 Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.
rs687467 in
RREB1 gene and
Vital capacity
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs1334576 in
RREB1 gene and
Waist-Hip Ratio
PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
PMID 23966867 2013 In joint analysis of association results including both Stage 1 and 2 cohorts, 2 SNPs demonstrated association, rs2075064 at LHX2, p = 2.24×10(-8) for WC-adjusted-for-BMI, and rs6931262 at RREB1, p = 2.48×10(-8) for WHR-adjusted-for-BMI.
rs11303054 in
RREB1 gene and
White Blood Cell Count procedure
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs75757892 in
RREB1 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.