BBS7

BBS7
Identifiers
AliasesBBS7, BBS2L1, Bardet-Biedl syndrome 7
External IDsMGI: 1918742 HomoloGene: 12395 GeneCards: BBS7
Gene location (Human)
Chr.Chromosome 4 (human)[1]
Band4q27Start121,824,440 bp[1]
End121,870,497 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

55212

71492

Ensembl

ENSG00000138686

ENSMUSG00000037325

UniProt

Q8IWZ6

Q8K2G4

RefSeq (mRNA)

NM_018190
NM_176824

NM_027810

RefSeq (protein)

NP_060660
NP_789794

NP_082086

Location (UCSC)Chr 4: 121.82 – 121.87 MbChr 3: 36.57 – 36.61 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Bardet-Biedl syndrome 7 is a protein that in humans is encoded by the BBS7 gene.[5]

Mutations in this gene are associated with the Bardet-Biedl syndrome.[5]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000138686 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000037325 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. 1 2 Badano JL, Ansley SJ, Leitch CC, Lewis RA, Lupski JR, Katsanis N (March 2003). "Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2". Am. J. Hum. Genet. 72 (3): 650–8. doi:10.1086/368204. PMC 1180240. PMID 12567324.

Further reading

  • Oeffner F, Moch C, Neundorf A, et al. (2008). "Novel interaction partners of Bardet-Biedl syndrome proteins". Cell Motil. Cytoskeleton. 65 (2): 143–55. doi:10.1002/cm.20250. PMID 18000879.
  • Hillier LW, Graves TA, Fulton RS, et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4". Nature. 434 (7034): 724–31. doi:10.1038/nature03466. PMID 15815621.
  • Nachury MV, Loktev AV, Zhang Q, et al. (2007). "A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis". Cell. 129 (6): 1201–13. doi:10.1016/j.cell.2007.03.053. PMID 17574030.
  • Chung WK, Patki A, Matsuoka N, et al. (2009). "Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations". Hum. Hered. 67 (3): 193–205. doi:10.1159/000181158. PMC 2715950. PMID 19077438.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Yang Z, Yang Y, Zhao P, et al. (2008). "A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family". Mol. Vis. 14: 2304–8. PMC 2603185. PMID 19093007.
  • Katsanis N, Ansley SJ, Badano JL, et al. (2001). "Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder". Science. 293 (5538): 2256–9. doi:10.1126/science.1063525. PMID 11567139.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Bin J, Madhavan J, Ferrini W, et al. (2009). "BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population". Hum. Mutat. 30 (7): E737–46. doi:10.1002/humu.21040. PMID 19402160.


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