Gene: ETV6

Alternate names for this Gene: TEL|TEL/ABL|THC5

Gene Summary: This gene encodes an ETS family transcription factor. The product of this gene contains two functional domains: a N-terminal pointed (PNT) domain that is involved in protein-protein interactions with itself and other proteins, and a C-terminal DNA-binding domain. Gene knockout studies in mice suggest that it is required for hematopoiesis and maintenance of the developing vascular network. This gene is known to be involved in a large number of chromosomal rearrangements associated with leukemia and congenital fibrosarcoma.

Gene is located in Chromosome: 12

Location in Chromosome : 12p13.2

Description of this Gene: ETS variant transcription factor 6

Type of Gene: protein-coding

rs2238126 in ETV6 gene and Adenocarcinoma of large intestine PMID 27145994 2016 Common genetic variation in ETV6 is associated with colorectal cancer susceptibility.

rs146216907 in ETV6 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 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

PMID 25282103 2014 Defining the role of common variation in the genomic and biological architecture of adult human height.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2238126 in ETV6 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 PMID 27145994 2016 Common genetic variation in ETV6 is associated with colorectal cancer susceptibility.

rs2238126 in ETV6 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 PMID 27145994 2016 Common genetic variation in ETV6 is associated with colorectal cancer susceptibility.

rs2238126 in ETV6 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 PMID 27145994 2016 Common genetic variation in ETV6 is associated with colorectal cancer susceptibility.

rs2238126 in ETV6 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 PMID 27145994 2016 Common genetic variation in ETV6 is associated with colorectal cancer susceptibility.

rs2238126 in ETV6 gene and Colorectal Carcinoma PMID 27145994 2016 The G allele of rs2238126 confers earlier age at onset of colorectal cancer (P=1.98 × 10(-6)) and reduces the binding affinity of transcriptional enhancer MAX.

rs2238126 in ETV6 gene and Colorectal Neoplasms PMID 27145994 2016 Common genetic variation in ETV6 is associated with colorectal cancer susceptibility.

rs145477191 in ETV6 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2856321 in ETV6 gene and Height PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

rs724159945 in ETV6 gene and Hematologic Neoplasms PMID 25581430 2015 Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.

rs2900208 in ETV6 gene and Lean body mass PMID 30593698 2019 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.

rs2238126 in ETV6 gene and Malignant neoplasm of large intestine PMID 27145994 2016 The G allele of rs2238126 confers earlier age at onset of colorectal cancer (P=1.98 × 10(-6)) and reduces the binding affinity of transcriptional enhancer MAX.

rs2238126 in ETV6 gene and Malignant tumor of colon PMID 27145994 2016 Common genetic variation in ETV6 is associated with colorectal cancer susceptibility.

rs786205154 in ETV6 gene and Multiple congenital anomalies PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

rs2541138 in ETV6 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs724159945 in ETV6 gene and Thrombocytopenia PMID 25581430 2015 Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.