Identity
HGNC
LOCATION
10p13
LOCUSID
ALIAS
IFCR,IGS,IGS1,MGA1,gp280
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 8029
MIM: 602997
HGNC: 2548
Ensembl: ENSG00000107611
Variants:
dbSNP: 8029
ClinVar: 8029
TCGA: ENSG00000107611
COSMIC: CUBN
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000107611 | ENST00000377833 | O60494 |
| ENSG00000107611 | ENST00000433666 | H7C480 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38008818 | 2024 | Polymorphisms in LRP2 and CUBN genes and their association with serum vitamin D levels and sleep apnea. | 0 |
| 38488435 | 2024 | Identification of novel pathogenic variants of CUBN in patients with isolated proteinuria. | 0 |
| 38008818 | 2024 | Polymorphisms in LRP2 and CUBN genes and their association with serum vitamin D levels and sleep apnea. | 0 |
| 38488435 | 2024 | Identification of novel pathogenic variants of CUBN in patients with isolated proteinuria. | 0 |
| 36112210 | 2023 | Clinical and genetic characterization of children with cubilin variants. | 1 |
| 36926036 | 2023 | Four missense genetic variants in CUBN are associated with higher levels of eGFR in non-diabetes but not in diabetes mellitus or its subtypes: A genetic association study in Europeans. | 1 |
| 37594671 | 2023 | Human parietal epithelial cells (PECs) and proteinuria in lupus nephritis: a role for ClC-5, megalin, and cubilin? | 0 |
| 36112210 | 2023 | Clinical and genetic characterization of children with cubilin variants. | 1 |
| 36926036 | 2023 | Four missense genetic variants in CUBN are associated with higher levels of eGFR in non-diabetes but not in diabetes mellitus or its subtypes: A genetic association study in Europeans. | 1 |
| 37594671 | 2023 | Human parietal epithelial cells (PECs) and proteinuria in lupus nephritis: a role for ClC-5, megalin, and cubilin? | 0 |
| 34610128 | 2022 | Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants. | 5 |
| 34979989 | 2022 | CUBN gene mutations may cause focal segmental glomerulosclerosis (FSGS) in children. | 8 |
| 35337634 | 2022 | Cubilin, the intrinsic factor-vitamin B12 receptor. | 1 |
| 36266725 | 2022 | Novel pathogenic variants in CUBN uncouple proteinuria from renal function. | 4 |
| 34610128 | 2022 | Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants. | 5 |
Citation
Dessen P
CUBN (cubilin)
Atlas Genet Cytogenet Oncol Haematol. 2017-01-01
Online version: http://atlasgeneticsoncology.org/gene/56699/cubn-(cubilin)
