MKKS (MKKS centrosomal shuttling protein)

2014-08-01  

Identity

HGNC
LOCATION
20p12.2
LOCUSID
ALIAS
BBS6,HMCS,KMS,MKS
FUSION GENES

Other Information

Locus ID:

NCBI: 8195
MIM: 604896
HGNC: 7108
Ensembl: ENSG00000125863

Variants:

dbSNP: 8195
ClinVar: 8195
TCGA: ENSG00000125863
COSMIC: MKKS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000125863ENST00000347364Q9NPJ1
ENSG00000125863ENST00000399054Q9NPJ1
ENSG00000125863ENST00000651692Q9NPJ1

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Cargo trafficking to the periciliary membraneREACTOMER-HSA-5620920
BBSome-mediated cargo-targeting to ciliumREACTOMER-HSA-5620922

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
115671392001Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.156
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
128376892003Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.64
157310082005MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis.52
237165712013Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization.36
170033562006Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians.25
204726602010Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.22
198760042010Obesity-related polymorphisms and their associations with the ability to regulate fat oxidation in obese Europeans: the NUGENOB study.11
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
208015162011Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.11

Citation

Dessen P

MKKS (MKKS centrosomal shuttling protein)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54462/mkks