Property Summary

NCBI Gene PubMed Count 28
PubMed Score 15.25
PubTator Score 17.87

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
gastric cancer 1.300 0.003
hepatocellular carcinoma 1.600 0.000
tuberculosis and treatment for 6 months -1.100 0.000
lung adenocarcinoma -1.200 0.000

Synonym

Accession Q8TAM1 Q96CW2 Q9H5D2
Symbols C12orf58

Gene

Gene RIF (12)

PMID Text
25439097 A rare variant (c.1189A>G [p.Ile397Val]; rs202042386) confers risk of type 2 diabetes in a recessive state.
24611592 novel BBS10 mutations in Bardet-Biedl syndrome patients in Spain
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.
23432027 Novel mutation (c.1181_1182insGCATTTATACC) in BBS10 (p.S396Lfs*6) found in Tunisian families with Bardet-Biedl syndrome.
23403234 We report two affected brothers from a consanguineous Pakistani Punjabi family, both the brothers were homozygous for c.1958_1967del, which is a novel deletion in BBS10 that is likely to be causing the Bardet-Biedl syndrome in this family.
23219996 Mutations identified in the present study extend the body of evidence implicating the genes ARL6 and BBS10 in causing Bardet-Biedl syndrome.
20827784 Mutation in BBS10 modulates Bardet-Biedl syndrome in a sibling.
20805367 This study confirms the high frequency of BBS10 mutations, particularly of the p.Cys91LeufsX5 allele in Bardet-Biedl syndrome.
20801516 Observational study of genetic testing. (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.
More...

AA Sequence

MLSSMAAAGSVKAALQVAEVLEAIVSCCVGPEGRQVLCTKPTGEVLLSRNGGRLLEALHLEHPIARMIVD      1 - 70
CVSSHLKKTGDGAKTFIIFLCHLLRGLHAITDREKDPLMCENIQTHGRHWKNCSRWKFISQALLTFQTQI     71 - 140
LDGIMDQYLSRHFLSIFSSAKERTLCRSSLELLLEAYFCGRVGRNNHKFISQLMCDYFFKCMTCKSGIGV    141 - 210
FELVDDHFVELNVGVTGLPVSDSRIIAGLVLQKDFSVYRPADGDMRMVIVTETIQPLFSTSGSEFILNSE    211 - 280
AQFQTSQFWIMEKTKAIMKHLHSQNVKLLISSVKQPDLVSYYAGVNGISVVECLSSEEVSLIRRIIGLSP    281 - 350
FVPPQAFSQCEIPNTALVKFCKPLILRSKRYVHLGLISTCAFIPHSIVLCGPVHGLIEQHEDALHGALKM    351 - 420
LRQLFKDLDLNYMTQTNDQNGTSSLFIYKNSGESYQAPDPGNGSIQRPYQDTVAENKDALEKTQTYLKVH    421 - 490
SNLVIPDVELETYIPYSTPTLTPTDTFQTVETLTCLSLERNRLTDYYEPLLKNNSTAYSTRGNRIEISYE    491 - 560
NLQVTNITRKGSMLPVSCKLPNMGTSQSYLSSSMPAGCVLPVGGNFEILLHYYLLNYAKKCHQSEETMVS    561 - 630
MIIANALLGIPKVLYKSKTGKYSFPHTYIRAVHALQTNQPLVSSQTGLESVMGKYQLLTSVLQCLTKILT    631 - 700
IDMVITVKRHPQKVHNQDSEDEL                                                   701 - 723
//

Text Mined References (28)

PMID Year Title
25439097 2014 A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity.
24611592 2014 Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes.
24400638 2015 Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort.
23432027 2014 Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.
23403234 2013 A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet-Biedl syndrome in a Pakistani family.
23219996 2013 Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome.
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.
21344540 2011 BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
20827784 2010 Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10.
More...