Property Summary

NCBI Gene PubMed Count 15
PubMed Score 3.68
PubTator Score 4.75

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q9BPU9
Symbols MKS10
MKSR2
ICIS-1

Gene

PANTHER Protein Class (1)

 GO Function (1)

Gene RIF (6)

PMID Text
21054877 Observational study of gene-disease association. (HuGE Navigator)
19692168 Observational study of gene-disease association. (HuGE Navigator)
19208769 MKS-1 and MKS-1-related proteins 1 and 2 (MKSR-1/EPPB9, MKSR-2/B9D2), localize to transition zones/basal bodies of sensory cilia; subcellular localization is largely co-dependent, pointing to a functional relationship between the proteins
18936436 Observational study of genotype prevalence. (HuGE Navigator)
17127412 The ICIS-1 (Involved in CIlia Stability-1)gene is localized within the TGF-beta1 promoter and is upregulated during mucociliary differentiation.
17127412 ICIS-1 is a new protein associated with ciliated cells and potentially related to cilia stability. This gene is localized within the TGF-beta1 promoter and is ubiquitously expressed in human tissues.

AA Sequence

MAEVHVIGQIIGASGFSESSLFCKWGIHTGAAWKLLSGVREGQTQVDTPQIGDMAYWSHPIDLHFATKGL      1 - 70
QGWPRLHFQVWSQDSFGRCQLAGYGFCHVPSSPGTHQLACPTWRPLGSWREQLARAFVGGGPQLLHGDTI     71 - 140
YSGADRYRLHTAAGGTVHLEIGLLLRNFDRYGVEC                                       141 - 175
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Text Mined References (16)

PMID Year Title
24836286 2014 Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
21763481 2011 Disruption of a ciliary B9 protein complex causes Meckel syndrome.
21602787 2011 Nephrocystins and MKS proteins interact with IFT particle and facilitate transport of selected ciliary cargos.
21054877 2010 Inflammation gene variants and susceptibility to albuminuria in the U.S. population: analysis in the Third National Health and Nutrition Examination Survey (NHANES III), 1991-1994.
19692168 2010 Genetic susceptibility to distinct bladder cancer subphenotypes.
19208769 2009 Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins.
18936436 2009 Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
18287022 2008 The stumpy gene is required for mammalian ciliogenesis.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
17127412 2007 Identification of ICIS-1, a new protein involved in cilia stability.
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