CUBN (cubilin)

2017-01-01  

Identity

HGNC
LOCATION
10p13
LOCUSID
ALIAS
IFCR,IGS,IGS1,MGA1,gp280
FUSION GENES

Other Information

Locus ID:

NCBI: 8029
MIM: 602997
HGNC: 2548
Ensembl: ENSG00000107611

Variants:

dbSNP: 8029
ClinVar: 8029
TCGA: ENSG00000107611
COSMIC: CUBN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000107611ENST00000377833O60494
ENSG00000107611ENST00000433666H7C480

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Vitamin digestion and absorptionKEGGko04977
Vitamin digestion and absorptionKEGGhsa04977
DiseaseREACTOMER-HSA-1643685
Diseases of metabolismREACTOMER-HSA-5668914
Defects in vitamin and cofactor metabolismREACTOMER-HSA-3296482
Defects in cobalamin (B12) metabolismREACTOMER-HSA-3296469
Defective AMN causes hereditary megaloblastic anemia 1REACTOMER-HSA-3359462
Defective CUBN causes hereditary megaloblastic anemia 1REACTOMER-HSA-3359463
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923
Lipoprotein metabolismREACTOMER-HSA-174824
HDL-mediated lipid transportREACTOMER-HSA-194223
Vitamin D (calciferol) metabolismREACTOMER-HSA-196791
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Cobalamin (Cbl, vitamin B12) transport and metabolismREACTOMER-HSA-196741
Metabolism of fat-soluble vitaminsREACTOMER-HSA-6806667

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
119947452002Megalin and cubilin: multifunctional endocytic receptors.194
213550612011CUBN is a gene locus for albuminuria.95
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
145760522004The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless.69
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
219039952011Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria.49
266317372016Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes.40
191611602009An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1).30
191611602009An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1).30

Citation

Dessen P

CUBN (cubilin)

Atlas Genet Cytogenet Oncol Haematol. 2017-01-01

Online version: http://atlasgeneticsoncology.org/gene/56699/cubn