Gene: TMBIM1

Alternate names for this Gene: LFG3|MST100|MSTP100|PP1201|RECS1

Gene Summary:

Gene is located in Chromosome: 2

Location in Chromosome : 2q35

Description of this Gene: transmembrane BAX inhibitor motif containing 1

Type of Gene: protein-coding

Gene: PNKD

Alternate names for this Gene: BRP17|DYT8|FKSG19|FPD1|KIPP1184|MR-1|MR-1S|MR1|PDC|PKND1|PNKD1|R1|TAHCCP2

Gene Summary: This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 2

Location in Chromosome : 2q35

Description of this Gene: PNKD metallo-beta-lactamase domain containing

Type of Gene: protein-coding

rs992157 in TMBIM1;PNKD gene and Adenocarcinoma of large intestine PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 28960316 2018 Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci.

rs992157 in TMBIM1;PNKD gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 PMID 28960316 2018 Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci.

PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

rs992157 in TMBIM1;PNKD gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 28960316 2018 Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci.

rs992157 in TMBIM1;PNKD gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 28960316 2018 Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci.

rs992157 in TMBIM1;PNKD gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 PMID 28960316 2018 Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci.

PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

rs992157 in TMBIM1;PNKD gene and Colorectal Carcinoma PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 28960316 2018 The previously reported association between the single-nucleotide polymorphism (SNP) rs992157 (2q35) and CRC was independently replicated (p = 2.08 × 10<sup>-4</sup> ; OR, 1.14; 95% CI, 1.06-1.23), and it was genome-wide significant in combined analysis (p = 1.50 × 10<sup>-9</sup> ; OR, 1.12; 95% CI, 1.08-1.16).

rs992157 in TMBIM1;PNKD gene and Colorectal Neoplasms PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 28960316 2018 Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci.

rs992157 in TMBIM1;PNKD gene and Malignant neoplasm of large intestine PMID 28960316 2018 Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci.

PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

rs992157 in TMBIM1;PNKD gene and Malignant tumor of colon PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 28960316 2018 Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci.

rs4791 in TMBIM1;PNKD gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.