Property Summary

NCBI Gene PubMed Count 46
Grant Count 100
R01 Count 63
Funding $9,947,994.86
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 0.002
hepatocellular carcinoma 1.500 0.000
pancreatic cancer 1.500 0.001
osteosarcoma -1.162 0.011
atypical teratoid / rhabdoid tumor -1.600 0.000
glioblastoma -1.400 0.000
medulloblastoma -1.100 0.000
medulloblastoma, large-cell -1.400 0.000
pancreatic ductal adenocarcinoma liver m... -2.054 0.047
tuberculosis and treatment for 6 months -1.200 0.001
pancreatic carcinoma 1.500 0.001
psoriasis 1.100 0.000
lung carcinoma 1.100 0.000
Pick disease -1.200 0.000
ovarian cancer 2.300 0.000

Synonym

Accession Q9NPJ1 A8K7B0 D3DW18
Symbols KMS
MKS
BBS6
HMCS

Gene

PANTHER Protein Class (2)

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)
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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.
More...