Gene: TBC1D1

Alternate names for this Gene: TBC|TBC1

Gene Summary: TBC1D1 is the founding member of a family of proteins sharing a 180- to 200-amino acid TBC domain presumed to have a role in regulating cell growth and differentiation. These proteins share significant homology with TRE2 (USP6; MIM 604334), yeast Bub2, and CDC16 (MIM 603461) (White et al., 2000 [PubMed 10965142]).[supplied by OMIM, Mar 2008].

Gene is located in Chromosome: 4

Location in Chromosome : 4p14

Description of this Gene: TBC1 domain family member 1

Type of Gene: protein-coding

rs17578878 in TBC1D1 gene and Degenerative polyarthritis PMID 22763110 2012 Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study.

rs658349 in TBC1D1 gene and Lymphocyte Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs6854169 in TBC1D1 gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs658349 in TBC1D1 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.