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ETV6 ETS variant transcription factor 6

Gene ID: 2120, updated on 5-Mar-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

DescriptionTests
Acute myeloid leukemiaSee 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 5See 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

Links

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