Property Summary

NCBI Gene PubMed Count 46
PubMed Score 131.49
PubTator Score 64.93

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (15)

Disease log2 FC p
gastric cancer 1.200 1.7e-03
hepatocellular carcinoma 1.500 7.3e-07
pancreatic cancer 1.500 9.0e-04
osteosarcoma -1.162 1.1e-02
atypical teratoid / rhabdoid tumor -1.600 1.5e-05
glioblastoma -1.400 2.2e-04
medulloblastoma -1.100 1.5e-04
medulloblastoma, large-cell -1.400 4.1e-06
pancreatic ductal adenocarcinoma liver m... -2.054 4.7e-02
tuberculosis and treatment for 6 months -1.200 8.8e-04
pancreatic carcinoma 1.500 9.0e-04
psoriasis 1.100 3.8e-12
lung carcinoma 1.100 6.0e-14
Pick disease -1.200 2.9e-04
ovarian cancer 2.300 2.1e-04

Protein-protein Interaction (8)

Gene RIF (20)

PMID Text
26900326 We identified a novel H395R substitution in MKKS/BBS6 that results in a unique phenotype of only retinitis pigmentosa and polydactyly.
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.
23716571 Findings indicate that Bbs proteins play a central role in the regulation of the actin cytoskeleton and control the cilia length through alteration of RhoA levels.
23671934 Three uORFs (uMKKS0, uMKKS1 and uMKKS2) are reported, and they can repress the translation of the downstream MKKS ORF. uMKKS1 and uMKKS2 are highly conserved in mammals and they encode two different mitochondrial membrane proteins respectively.
23432027 Novel mutation (c.1272+1G>A) in BBS6 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)
20472660 Using sequence analysis, the role of BBS6, 10 and 12 was assessed in a Bardet-Biedl syndrome patient population comprising 93 cases from 74 families.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19876004 Observational study of gene-disease association. (HuGE Navigator)
19247371 genetic variations at MKKS gene influence the risk of metabolic syndrome
19077438 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18813213 results suggest that genetic variation in the MKKS gene may play a role in the development of obesity and the metabolic syndrome.
18813213 Observational study of gene-disease association. (HuGE Navigator)
18094050 These results indicate that the MKKS mutants have an abnormal conformation and that chaperone-dependent degradation mediated by CHIP is a key feature of McKusick-Kaufman syndrome/Bardet-Biedl syndrome diseases.
17003356 Observational study of gene-disease association. (HuGE Navigator)
15731008 MKKS/BBS6 is a novel centrosomal component required for cytokinesis
15483080 Observational study of gene-disease association. (HuGE Navigator)
12837689 The presence of three mutant alleles in the BBS family correlates with a more severe Bardet-Biedl phenotype.
11567139 Unaffected individuals in 2 pedigrees had 2 but not all 3 mutations that affecteds had which suggests that Bardet-Biedle syndrome might not be a single-gene recessive disease but a complex trait requiring three mutant alleles to manifest the phenotype.

AA Sequence

MSRLEAKKPSLCKSEPLTTERVRTTLSVLKRIVTSCYGPSGRLKQLHNGFGGYVCTTSQSSALLSHLLVT      1 - 70
HPILKILTASIQNHVSSFSDCGLFTAILCCNLIENVQRLGLTPTTVIRLNKHLLSLCISYLKSETCGCRI     71 - 140
PVDFSSTQILLCLVRSILTSKPACMLTRKETEHVSALILRAFLLTIPENAEGHIILGKSLIVPLKGQRVI    141 - 210
DSTVLPGILIEMSEVQLMRLLPIKKSTALKVALFCTTLSGDTSDTGEGTVVVSYGVSLENAVLDQLLNLG    211 - 280
RQLISDHVDLVLCQKVIHPSLKQFLNMHRIIAIDRIGVTLMEPLTKMTGTQPIGSLGSICPNSYGSVKDV    281 - 350
CTAKFGSKHFFHLIPNEATICSLLLCNRNDTAWDELKLTCQTALHVLQLTLKEPWALLGGGCTETHLAAY    351 - 420
IRHKTHNDPESILKDDECTQTELQLIAEAFCSALESVVGSLEHDGGEILTDMKYGHLWSVQADSPCVANW    421 - 490
PDLLSQCGCGLYNSQEELNWSFLRSTRRPFVPQSCLPHEAVGSASNLTLDCLTAKLSGLQVAVETANLIL    491 - 560
DLSYVIEDKN                                                                561 - 570
//

Text Mined References (52)

PMID Year Title
26900326 2016 A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome.
24400638 2015 Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort.
23716571 2013 Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization.
23671934 2013 Translational repression of the McKusick-Kaufman syndrome transcript by unique upstream open reading frames encoding mitochondrial proteins with alternative polyadenylation sites.
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.
22446187 2012 Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis.
22302990 2012 Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation.
22152675 2011 TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.
21344540 2011 BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
21270763 2011 Bardet-Biedl syndrome highlights the major role of the primary cilium in efficient water reabsorption.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20472660 2010 Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.
20193073 2010 Chaperonin genes on the rise: new divergent classes and intense duplication in human and other vertebrate genomes.
20120035 2010 Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.
20080638 2010 BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19876004 2010 Obesity-related polymorphisms and their associations with the ability to regulate fat oxidation in obese Europeans: the NUGENOB study.
19247371 2009 Screening of 336 single-nucleotide polymorphisms in 85 obesity-related genes revealed McKusick-Kaufman syndrome gene variants are associated with metabolic syndrome.
19077438 2009 Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations.
18813213 2008 Association between BBS6/MKKS gene polymorphisms, obesity and metabolic syndrome in the Greek population.
18762586 2008 Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnesses.
18094050 2008 MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
17003356 2006 Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians.
16381901 2006 The LIFEdb database in 2006.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16327777 2006 Dissection of epistasis in oligogenic Bardet-Biedl syndrome.
15770229 2005 Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
15731008 2005 MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis.
15666242 2005 Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.
15489336 2004 From ORFeome to biology: a functional genomics pipeline.
15483080 2005 Variation of the McKusick-Kaufman gene and studies of relationships with common forms of obesity.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12920096 2003 Further support for digenic inheritance in Bardet-Biedl syndrome.
12837689 2003 Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.
12677556 2003 Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12107442 2002 Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients.
11780052 2001 The DNA sequence and comparative analysis of human chromosome 20.
11567139 2001 Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.
11256614 2000 Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.
11230166 2001 Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.
11179009 2001 Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.
11076863 2000 DNA cloning using in vitro site-specific recombination.
10973251 2000 Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.
10973238 2000 Mutations in MKKS cause Bardet-Biedl syndrome.
10802661 2000 Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome.
9467007 1998 Genetic and physical mapping of the McKusick-Kaufman syndrome.