Property Summary

NCBI Gene PubMed Count 30
Grant Count 8
R01 Count 2
Funding $1,190,854.09
PubMed Score 63.70
PubTator Score 4931.52

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
malignant mesothelioma -1.400 0.000
astrocytic glioma -1.500 0.038
oligodendroglioma -1.600 0.040
posterior fossa group B ependymoma 1.600 0.000
atypical teratoid / rhabdoid tumor -1.400 0.000
glioblastoma -1.500 0.002
medulloblastoma -1.400 0.000
medulloblastoma, large-cell -2.600 0.000
tuberculosis 1.300 0.000
pediatric high grade glioma -1.200 0.002
ovarian cancer -2.000 0.000

Gene RIF (13)

PMID Text
26846096 BBS9/PTHB1 gene mutations have been shown to be associated with Bardet Biedl syndrome and to the best of our knowledge this study reports the first Pakistani family linked to the BBS9 gene.
26085087 BBS9 has four folded domains, based on structure prediction; the N-terminal domain is a beta-propeller.
25631089 The endoplasmic reticulum membrane J protein C18 executes a distinct role in promoting simian virus 40 membrane penetration.
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.
23160099 Robust associations with nonsyndromic sagittal craniosynostosis were found in a 120-kb region downstream of BMP2 flanked by rs1884302 and rs6140226 and within a 167-kb region of BBS9 between rs10262453 and rs17724206.
22479622 Human BBS9 mRNA rescues bbs9 knockdown phenotype in the zebrafish.
20801516 Observational study of genetic testing. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20161521 Observational study and genome-wide association study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18349106 PTHB1 is strongly associated with POF, and ht1 confers susceptibility to POF
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AA Sequence

MSLFKARDWWSTILGDKEEFDQGCLCLANVDNSGNGQDKIIVGSFMGYLRIFSPHPAKTGDGAQAEDLLL      1 - 70
EVDLRDPVLQVEVGKFVSGTEMLHLAVLHSRKLCVYSVSGTLGNVEHGNQCQMKLMYEHNLQRTACNMTY     71 - 140
GSFGGVKGRDLICIQSMDGMLMVFEQESYAFGRFLPGFLLPGPLAYSSRTDSFLTVSSCQQVESYKYQVL    141 - 210
AFATDADKRQETEQQKLGSGKRLVVDWTLNIGEQALDICIVSFNQSASSVFVLGERNFFCLKDNGQIRFM    211 - 280
KKLDWSPSCFLPYCSVSEGTINTLIGNHNNMLHIYQDVTLKWATQLPHIPVAVRVGCLHDLKGVIVTLSD    281 - 350
DGHLQCSYLGTDPSLFQAPNVQSRELNYDELDVEMKELQKIIKDVNKSQGVWPMTEREDDLNVSVVVSPN    351 - 420
FDSVSQATDVEVGTDLVPSVTVKVTLQNRVILQKAKLSVYVQPPLELTCDQFTFEFMTPDLTRTVSFSVY    421 - 490
LKRSYTPSELEGNAVVSYSRPTDRNPDGIPRVIQCKFRLPLKLICLPGQPSKTASHKITIDTNKSPVSLL    491 - 560
SLFPGFASQSDDDQVNVMGFHFLGGARITVLASKTSQRYRIQSEQFEDLWLITNELILRLQEYFEKQGVK    561 - 630
DFACSFSGSIPLQEYFELIDHHFELRINGEKLEELLSERAVQFRAIQRRLLARFKDKTPAPLQHLDTLLD    631 - 700
GTYKQVIALADAVEENQGNLFQSFTRLKSATHLVILLIALWQKLSADQVAILEAAFLPLQEDTQELGWEE    701 - 770
TVDAAISHLLKTCLSKSSKEQALNLNSQLNIPKDTSQLKKHITLLCDRLSKGGRLCLSTDAAAPQTMVMP    771 - 840
GGCTTIPESDLEERSVEQDSTELFTNHRHLTAETPRPEVSPLQGVSE                           841 - 887
//

Text Mined References (30)

PMID Year Title
27173435 2016 An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
26846096 2016 Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome.
26085087 2015 Structural Characterization of Bardet-Biedl Syndrome 9 Protein (BBS9).
25631089 2015 The endoplasmic reticulum membrane J protein C18 executes a distinct role in promoting simian virus 40 membrane penetration.
25552655 2015 Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery.
24556642 2014 Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.
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.
23943788 2014 BBS mutations modify phenotypic expression of CEP290-related ciliopathies.
23160099 2012 A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.
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