ETV6 ETS variant transcription factor 6

Gene ID: 2120, updated on 5-May-2024
Gene type: protein coding
Also known as: TEL; THC5; TEL/ABL

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. [provided by RefSeq, Sep 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Acute myeloid leukemia MedGen: C0023467OMIM: 601626GeneReviews: CEBPA-Associated Familial Acute Myeloid Leukemia (AML), ETV6 Thrombocytopenia and Predisposition to Leukemia, RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies, DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia	See labs
Gene network analysis in a pediatric cohort identifies novel lung function genes. GeneReviews: Not available
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. GeneReviews: Not available
Hundreds of variants clustered in genomic loci and biological pathways affect human height. GeneReviews: Not available
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. GeneReviews: Not available
Many sequence variants affecting diversity of adult human height. GeneReviews: Not available
Thrombocytopenia 5 MedGen: C4015537OMIM: 616216GeneReviews: ETV6 Thrombocytopenia and Predisposition to Leukemia	See labs

Copy number response

Description
Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2023-01-11) ClinGen Genome Curation PagePubMed Triplosensitivity No evidence available (Last evaluated 2023-01-11) ClinGen Genome Curation Page

Genomic context

Location:: 12p13.2

Sequence:: Chromosome: 12; NC_000012.12 (11649674..11895377)

Total number of exons:: 15

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for ETV6 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
ETV6 database
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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