- About
- Home
- Introduction
- Statistics
- Programs
- Dignet
- Gene
- GenePair
- Help & Docs
- Documents
- Help
- FAQs
- Links
- Acknowledge
- Disclaimer
- Contact Us
Gene Information
Gene symbol: BBS2
Gene name: Bardet-Biedl syndrome 2
HGNC ID: 967
Related Genes
| # | Gene Symbol | Number of hits |
| 1 | BBS1 | 1 hits |
| 2 | LEPR | 1 hits |
| 3 | MKKS | 1 hits |
| 4 | POMC | 1 hits |
| 5 | STAT3 | 1 hits |
Related Sentences
| # | PMID | Sentence |
| 1 | 12118255 | Cases of BBS mapping ro BBS6 are caused by mutations in MKKS; mutations in this gene also cause McKusick-Kaufman syndrome (hydrometrocolpos, post-axial polydactyly and congenital heart defects). |
| 2 | 12118255 | Here we report the identification of the gene BBS1 and show that a missense mutation of this gene is a frequent cause of BBS. |
| 3 | 15772095 | These observations suggest that the complete absence of MKKS leads to BBS while the MKS phenotype is likely to be due to specific mutations. |
| 4 | 19150989 | Here, we show that BBS proteins are required for leptin receptor (LepR) signaling in the hypothalamus. |
| 5 | 19150989 | In addition, activation of hypothalamic STAT3 by leptin is significantly decreased in Bbs2(-/-), Bbs4(-/-) and Bbs6(-/-) mice. |
| 6 | 19150989 | In contrast, downstream melanocortin receptor signaling is unaffected, indicating that LepR signaling is specifically impaired in Bbs2(-/-), Bbs4(-/-) and Bbs6(-/-) mice. |
| 7 | 19150989 | Impaired LepR signaling in BBS mice was associated with decreased Pomc gene expression. |
| 8 | 19150989 | Furthermore, we found that BBS1 protein physically interacts with the LepR and that loss of BBS proteins perturbs LepR trafficking. |