Gene: CUBN

Alternate names for this Gene: IFCR|IGS|IGS1|MGA1|gp280

Gene Summary: Cubilin (CUBN) acts as a receptor for intrinsic factor-vitamin B12 complexes. The role of receptor is supported by the presence of 27 CUB domains. Cubulin is located within the epithelium of intestine and kidney. Mutations in CUBN may play a role in autosomal recessive megaloblastic anemia.

Gene is located in Chromosome: 10

Location in Chromosome : 10p13

Description of this Gene: cubilin

Type of Gene: protein-coding

rs10904849 in CUBN gene and Adenocarcinoma of large intestine PMID 25990418 2015 A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.

rs1276720 in CUBN gene and Albuminuria PMID 30220432 2018 Genetic Association of Albuminuria with Cardiometabolic Disease and Blood Pressure.

PMID 30910378 2019 Identification of 22 novel loci associated with urinary biomarkers of albumin, sodium, and potassium excretion.

PMID 21355061 2011 CUBN is a gene locus for albuminuria.

rs7904579 in CUBN gene and Bipolar Disorder PMID 29391396 2018 Bipolar disorder with binge eating behavior: a genome-wide association study implicates PRR5-ARHGAP8.

rs1801222 in CUBN gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs7904579 in CUBN gene and Bulimia PMID 29391396 2018 Bipolar disorder with binge eating behavior: a genome-wide association study implicates PRR5-ARHGAP8.

rs10904849 in CUBN gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 PMID 25990418 2015 A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.

rs10904849 in CUBN gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 PMID 25990418 2015 A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.

rs10904849 in CUBN gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 PMID 25990418 2015 A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.

rs10904849 in CUBN gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 PMID 25990418 2015 A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.

rs10904849 in CUBN gene and Colorectal Carcinoma PMID 25990418 2015 A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.

rs10904849 in CUBN gene and Colorectal Neoplasms PMID 25990418 2015 A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.

rs74375025 in CUBN gene and Diabetes PMID 31511532 2019 Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria.

rs74375025 in CUBN gene and Diabetes Mellitus PMID 31511532 2019 Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria.

rs7921488 in CUBN gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 23945395 2014 Genome-wide association study identifies three novel loci for type 2 diabetes.

rs11254327 in CUBN gene and Esophageal Neoplasms PMID 22960999 2012 Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.

rs12257093 in CUBN gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

PMID 30498476 2018 Heritability and Genome-Wide Association Study of Plasma Cholesterol in Chinese Adult Twins.

rs1801222 in CUBN gene and Homocysteine measurement PMID 23824729 2013 Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.

rs17139292 in CUBN gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs10904849 in CUBN gene and Malignant neoplasm of large intestine PMID 25990418 2015 A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.

rs10904849 in CUBN gene and Malignant tumor of colon PMID 25990418 2015 A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.

rs121434430 in CUBN gene and Megaloblastic Anemia 1 PMID 10080186 1999 Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1.

PMID 10887099 2000 Most Finnish patients with MGA1 carry the disease-specific P1297L mutation (FM1) in the IF-B(12) receptor, cubilin.

PMID 15024727 2004 Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East.

PMID 25349199 2015 A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.

PMID 22929189 2012 Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.

rs10795433 in CUBN gene and Microalbuminuria PMID 26631737 2016 Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes.

PMID 31511532 2019 Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria.

rs1797081 in CUBN gene and Platelet Component Distribution Width Measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs74375025 in CUBN gene and Proteinuria PMID 30476138 2019 Sequence variants associating with urinary biomarkers.

rs12257093 in CUBN gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs17139292 in CUBN gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs17139292 in CUBN gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs74440730 in CUBN gene and Uric acid measurement (procedure) PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

rs11254363 in CUBN gene and VITAMIN B12 MEASUREMENT PMID 19303062 2009 Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations.

PMID 19744961 2009 Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway.

PMID 25147783 2014 Genetic Associations with Plasma B12, B6, and Folate Levels in an Ischemic Stroke Population from the Vitamin Intervention for Stroke Prevention (VISP) Trial.