BLTP2 Chromosome 17

Bridge-like lipid transfer protein family member 2
1 variant 1 Health Risk

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What This Gene Does
This gene was initially characterized in human as having high expression levels in breast carcinomas and breast cancer cell lines. This gene also has increased expression in prostrate cancer cells relative to normal prostrate tissues. Expression of this gene is negatively regulated by direct binding of the microRNA miR-195 to its 3' UTR. miR-195 has been shown to modulate the invasiveness of prostrate cancer cells and xenograft metastases by downgrading expression of this gene. In mouse, the protein encoded by this gene was identified as an antigen on acute monocytic leukemia cells. In human, alternative splicing results in multiple transcript variants encoding distinct isoforms; some of these isoforms are predicted to contain an RNA pol II promoter FMP27 protein domain and a Golgi-body-localization APT1 domain. [provided by RefSeq, Apr 2017]
Gene Info
Gene Group
Bridge-like lipid transfer protein family
Locus Type
gene with protein product
Location
17q11.2
Ensembl
ENSG00000007202
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS536534531 Health Risk Conflicting classifications of pathogenicity
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