Property Summary

NCBI Gene PubMed Count 28
PubMed Score 11.08
PubTator Score 11.69

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (14)

Disease log2 FC p
Rheumatoid Arthritis 1.400 0.029
malignant mesothelioma -1.700 0.000
astrocytic glioma -2.300 0.003
oligodendroglioma -1.800 0.041
glioblastoma -2.100 0.000
posterior fossa group A ependymoma -1.800 0.000
atypical teratoid / rhabdoid tumor -2.200 0.000
medulloblastoma -1.300 0.002
medulloblastoma, large-cell -1.900 0.000
adult high grade glioma -1.600 0.002
pilocytic astrocytoma -1.100 0.003
Pick disease -1.200 0.002
ovarian cancer -1.100 0.004
cystic fibrosis and chronic rhinosinusit... -1.101 0.015

Synonym

Accession Q8IWZ6 Q4W5P8 Q8N581 Q9NVI4
Symbols BBS2L1

Gene

Gene RIF (7)

PMID Text
25553308 BBS7 gene was a novel variant (c.103-1G>A) in the consensus splice acceptor site, which altered the splicing recognition site of 'AG' to 'AA' at the BBS7 gene intron 2 and exon 3 boundary.
20801516 Observational study of genetic testing. (HuGE Navigator)
19402160 small role of BBS7 and TTC8 in the overall mutational load of Bardet-Biedl syndrome patients
19402160 Observational study of gene-disease association. (HuGE Navigator)
19093007 This study describes a novel mutation in BBS7 causing Bardet-Biedl syndrome in a Chinese family.
19077438 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
12567324 A novel Bardet-Biedl syndrome protein is identified anad characterized.

AA Sequence

MDLILNRMDYLQVGVTSQKTMKLIPASRHRATQKVVIGDHDGVVMCFGMKKGEAAAVFKTLPGPKIARLE      1 - 70
LGGVINTPQEKIFIAAASEIRGFTKRGKQFLSFETNLTESIKAMHISGSDLFLSASYIYNHYCDCKDQHY     71 - 140
YLSGDKINDVICLPVERLSRITPVLACQDRVLRVLQGSDVMYAVEVPGPPTVLALHNGNGGDSGEDLLFG    141 - 210
TSDGKLALIQITTSKPVRKWEIQNEKKRGGILCIDSFDIVGDGVKDLLVGRDDGMVEVYSFDNANEPVLR    211 - 280
FDQMLSESVTSIQGGCVGKDSYDEIVVSTYSGWVTGLTTEPIHKESGPGEELKINQEMQNKISSLRNELE    281 - 350
HLQYKVLQERENYQQSSQSSKAKSAVPSFGINDKFTLNKDDASYSLILEVQTAIDNVLIQSDVPIDLLDV    351 - 420
DKNSAVVSFSSCDSESNDNFLLATYRCQADTTRLELKIRSIEGQYGTLQAYVTPRIQPKTCQVRQYHIKP    421 - 490
LSLHQRTHFIDHDRPMNTLTLTGQFSFAEVHSWVVFCLPEVPEKPPAGECVTFYFQNTFLDTQLESTYRK    491 - 560
GEGVFKSDNISTISILKDVLSKEATKRKINLNISYEINEVSVKHTLKLIHPKLEYQLLLAKKVQLIDALK    561 - 630
ELQIHEGNTNFLIPEYHCILEEADHLQEEYKKQPAHLERLYGMITDLFIDKFKFKGTNVKTKVPLLLEIL    631 - 700
DSYDQNALISFFDAA                                                           701 - 715
//

Text Mined References (33)

PMID Year Title
27173435 2016 An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
25553308 2015 Identification of compound heterozygous mutations in the BBS7 gene in a Korean family with Bardet-Biedl syndrome.
25552655 2015 Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery.
24550735 2014 The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22500027 2012 Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome.
22302990 2012 Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation.
22072986 2011 A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened.
21552264 2011 KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.
21399614 2011 Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods.
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