Property Summary

NCBI Gene PubMed Count 22
PubMed Score 23.20
PubTator Score 11.33

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
posterior fossa group B ependymoma 2.100 1.3e-10
subependymal giant cell astrocytoma 1.861 1.0e-02
Endometriosis -1.405 4.6e-02
lung carcinoma 1.700 5.4e-28
spina bifida -1.018 3.9e-02
Pick disease -1.100 5.3e-04
ovarian cancer -1.800 1.9e-09

Protein-protein Interaction (5)

Gene RIF (6)

PMID Text
20801516 Observational study of genetic testing. (HuGE Navigator)
20451172 A splice-site mutation in a retina-specific exon of TTC8 causes nonsyndromic retinitis pigmentosa.
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)
19077438 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
14520415 A homozygous null BBS8 mutation leads to Bardet-Biedl syndrome with randomization of left-right body axis symmetry, a known defect of the nodal cilium

AA Sequence

MSSEMEPLLLAWSYFRRRKFQLCADLCTQMLEKSPYDQEPDPELPVHQAAWILKARALTEMVYIDEIDVD      1 - 70
QEGIAEMMLDENAIAQVPRPGTSLKLPGTNQTGGPSQAVRPITQAGRPITGFLRPSTQSGRPGTMEQAIR     71 - 140
TPRTAYTARPITSSSGRFVRLGTASMLTSPDGPFINLSRLNLTKYSQKPKLAKALFEYIFHHENDVKTIH    141 - 210
LEDVVLHLGIYPFLLRNKNHIEKNALDLAALSTEHSQYKDWWWKVQIGKCYYRLGMYREAEKQFKSALKQ    211 - 280
QEMVDTFLYLAKVYVSLDQPVTALNLFKQGLDKFPGEVTLLCGIARIYEEMNNMSSAAEYYKEVLKQDNT    281 - 350
HVEAIACIGSNHFYSDQPEIALRFYRRLLQMGIYNGQLFNNLGLCCFYAQQYDMTLTSFERALSLAENEE    351 - 420
EAADVWYNLGHVAVGIGDTNLAHQCFRLALVNNNNHAEAYNNLAVLEMRKGHVEQARALLQTASSLAPHM    421 - 490
YEPHFNFATISDKIGDLQRSYVAAQKSEAAFPDHVDTQHLIKQLRQHFAML                       491 - 541
//

Text Mined References (23)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
25552655 2015 Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery.
24939912 2014 Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.
24550735 2014 The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
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.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20451172 2010 A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa.
20080638 2010 BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.
19402160 2009 BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.
19077438 2009 Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations.
18762586 2008 Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnesses.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17574030 2007 A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.
16327777 2006 Dissection of epistasis in oligogenic Bardet-Biedl syndrome.
16308660 2006 BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14520415 2003 Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome.
12508121 2003 The DNA sequence and analysis of human chromosome 14.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.