CUBN cubilin
Gene ID: 8029, updated on 2-Nov-2024Gene type: protein coding
Also known as: IGS; IFCR; IGS1; MGA1; gp280
- See all available tests in GTR for this gene
- Go to complete Gene record for CUBN
- Go to Variation Viewer for CUBN variants
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. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease. GeneReviews: Not available | |
| CUBN is a gene locus for albuminuria. GeneReviews: Not available | |
| Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
| Genetic Associations with Plasma B12, B6, and Folate Levels in an Ischemic Stroke Population from the Vitamin Intervention for Stroke Prevention (VISP) Trial. GeneReviews: Not available | |
| Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. GeneReviews: Not available | |
| Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations. GeneReviews: Not available | |
| Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease. GeneReviews: Not available | |
| Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway. GeneReviews: Not available | |
| Imerslund-Grasbeck syndrome type 1 | not available |
| Proteinuria, chronic benign | not available |
Genomic context
- Location:
- 10p13
- Sequence:
- Chromosome: 10; NC_000010.11 (16823966..17129811, complement)
- Total number of exons:
- 71
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CUBN variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.