Property Summary

NCBI Gene PubMed Count 42
Grant Count 272
R01 Count 66
Funding $102,094,881.78
PubMed Score 630.15
PubTator Score 54.71

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
oligodendroglioma 1.100 0.049
osteosarcoma -1.348 0.007
medulloblastoma, large-cell -1.400 0.000
posterior fossa group B ependymoma 1.100 0.000
psoriasis -1.100 0.000
inflammatory breast cancer -1.100 0.000
ovarian cancer -2.900 0.000

Synonym

Accession Q9BXC9 Q96CM0 Q96SN9
Symbols BBS
RP74

Gene

Gene RIF (17)

PMID Text
26078953 A pair of heterozygous nonsense mutations in BBS2 gene was identified in the proband, one being novel and the other recurrent. The novel mutation, p.Y644X, resides in exon 16 and was also found in the heterozygous state in the mother
25541840 Our study shows that BBS2 mutations can cause nonsyndromic retinitis pigmentosa and highlights yet another candidate for this genetically heterogeneous condition.
24400638 we report here, for the first time, in Indian population, a novel, different profile of mutations in BBS genes (BBS3, BBS9, BBS10 and BBS2) compared to worldwide (BBS1 and 10) reports.
23829372 Carrier frequency has been determined for two BBS2 mutations present in the Ashkenazi Jewish population.
23432027 Novel mutation (c.115+5G>A) in BBS2 found in Tunisian families with Bardet-Biedl syndrome.
20801516 Observational study of genetic testing. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20618352 Sequence analysis and subsequent RNA studies identified and confirmed a novel splice site mutation, c.472-2A>G, in BBS2. This mutation was also found in homozygous form in three subsequently studied Hutterite BBS patients from two different leuts.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19666486 RET and BBS mutations modulate enteric innervation and cause syndromic Hirschsprung disease
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AA Sequence

MLLPVFTLKLRHKISPRMVAIGRYDGTHPCLAAATQTGKVFIHNPHTRNQHVSASRVFQSPLESDVSLLN      1 - 70
INQAVSCLTAGVLNPELGYDALLVGTQTNLLAYDVYNNSDLFYREVADGANAIVLGTLGDISSPLAIIGG     71 - 140
NCALQGFNHEGSDLFWTVTGDNVNSLALCDFDGDGKKELLVGSEDFDIRVFKEDEIVAEMTETEIVTSLC    141 - 210
PMYGSRFGYALSNGTVGVYDKTSRYWRIKSKNHAMSIHAFDLNSDGVNELITGWSNGKVDARSDRTGEVI    211 - 280
FKDNFSSAIAGVVEGDYRMDGHIQLICCSVDGEIRGYLPGTAEMRGNLMDTSAEQDLIRELSQKKQNLLL    281 - 350
ELRNYEENAKAELASPLNEADGHRGIIPANTRLHTTLSVSLGNETQTAHTELRISTSNDTIIRAVLIFAE    351 - 420
GIFTGESHVVHPSIHNLSSSICIPIVPPKDVPVDLHLKAFVGYRSSTQFHVFESTRQLPRFSMYALTSLD    421 - 490
PASEPISYVNFTIAERAQRVVVWLGQNFLLPEDTHIQNAPFQVCFTSLRNGGHLHIKIKLSGEITINTDD    491 - 560
IDLAGDIIQSMASFFAIEDLQVEADFPVYFEELRKVLVKVDEYHSVHQKLSADMADHSNLIRSLLVGAED    561 - 630
ARLMRDMKTMKSRYMELYDLNRDLLNGYKIRCNNHTELLGNLKAVNQAIQRAGRLRVGKPKNQVITACRD    631 - 700
AIRSNNINTLFKIMRVGTASS                                                     701 - 721
//

Text Mined References (47)

PMID Year Title
27173435 2016 An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
26078953 2015 Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome.
25552655 2015 Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery.
25541840 2015 Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.
25416956 2014 A proteome-scale map of the human interactome network.
24550735 2014 The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome.
24400638 2015 Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort.
23829372 2014 Carrier frequency of two BBS2 mutations in the Ashkenazi population.
23432027 2014 Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.
22500027 2012 Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome.
More...