Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
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Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Mutation | Interaction

Basic Information

Gene ID

665

Name

BNIP3L

Synonymous

BNIP3a|NIX;BCL2/adenovirus E1B 19kDa interacting protein 3-like;BNIP3L;BCL2/adenovirus E1B 19kDa interacting protein 3-like

Definition

BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like|BCL2/adenovirus E1B 19 kDa protein-interacting protein 3A|BCL2/adenovirus E1B 19-kd protein-interacting protein 3a|NIP3-like protein X|NIP3L|adenovirus E1B19k-binding protein B5

Position

8p21

Gene type

protein-coding

Title

Abstract

Analysis of the candidate 8p21 tumour suppressor, BNIP3L, in breast and ovarian cancer.

Loss of heterozygosity (LOH) on the short arm of chromosome 8, at 8p12-p23, is one of the most frequent genetic events in both breast and ovarian cancer, suggesting the location of a shared tumour suppressor gene. Microcell-mediated chromosome transfer of chromosome 8 suppresses tumorigenicity and growth of colorectal and prostate cancer cell lines, further supporting the presence of a tumour suppressor gene on 8p. We have taken a candidate gene approach to try to identify this tumour suppressor gene at 8p12-p23. BNIP3L, which has sequence homology to pro-apoptotic proteins and the ability to suppress colony formation in soft agar, is located at 8p21, within a region of ovarian cancer LOH, breast cancer LOH and prostate cancer metastasis suppression. BNIP3L expression was assessed by both RT-PCR and Northern blot analysis in breast and ovarian cancer cell lines and found to be expressed at similar levels relative to expression in their respective normal epithelial cell lines. genetic analysis of BNIP3L in 40 primary ovarian and 25 primary breast tumours identified one somatic, intronic mutation in one ovarian tumour, as well as several polymorphisms, including one resulting in an amino-acid substitution. These data suggest that BNIP3L is unlikely to be the target of 8p LOH in ovarian or breast cancer.

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