GeneID: 411
Names
Common Name: | ETV6-BCL2L14 | Type: | Intergenic Region |
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Chromosome: | 12 (NC_000012.12) | Locus: | N/A |
HUGO Symbol: | N/A | Full Name: | N/A |
Exons: | N/A | Introns: | N/A |
Description:
ETV6 (ETS variant transcription factor 6) encodes an ETS family transcription factor. Gene knockout studies in mice suggest that it is required for haematopoiesis and maintenance of the developing vascular network. BCL2L14 (BCL2 like 14) belongs to the BCL2 protein family, of which members act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. A variant located in the ETV6-BCL2L14 intergenic region associated with F-cell levels in sickle cell disease.
Synonyms: N/A
Comments:
N/A
Number of entries/variants: 1
IthaScore
Sequence Viewer
Publications / Origin
- Bhatnagar P, Purvis S, Barron-Casella E, DeBaun MR, Casella JF, Arking DE, Keefer JR, Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients., J. Hum. Genet. , 56(4), 316-23, 2011 PubMed
A/A | Date | Curator(s) | Comments |
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1 | 2020-10-15 15:20:25 | The IthaGenes Curation Team | Created |