Identity
HGNC
LOCATION
16p12.3
LOCUSID
ALIAS
ADMCKD2,ADTKD1,FJHN,HNFJ,HNFJ1,MCKD2,THGP,THP
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: 7369
MIM: 191845
HGNC: 12559
Ensembl: ENSG00000169344
Variants:
dbSNP: 7369
ClinVar: 7369
TCGA: ENSG00000169344
COSMIC: UMOD
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Metabolism of proteins | REACTOME | R-HSA-392499 |
| Post-translational protein modification | REACTOME | R-HSA-597592 |
| Asparagine N-linked glycosylation | REACTOME | R-HSA-446203 |
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA165817016 | Kidney Transplantation | Disease | VariantAnnotation | associated | PD | 28418009 | |
| PA449167 | cyclosporine | Chemical | VariantAnnotation | associated | PD | 28418009 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36642527 | 2024 | The Versatile Role of Uromodulin in Renal Homeostasis and Its Relevance in Chronic Kidney Disease. | 4 |
| 38369967 | 2024 | Uromodulin in sepsis and severe pneumonia: a two-sample Mendelian randomization study. | 0 |
| 36642527 | 2024 | The Versatile Role of Uromodulin in Renal Homeostasis and Its Relevance in Chronic Kidney Disease. | 4 |
| 38369967 | 2024 | Uromodulin in sepsis and severe pneumonia: a two-sample Mendelian randomization study. | 0 |
| 36038257 | 2023 | A founder UMOD variant is a common cause of hereditary nephropathy in the British population. | 0 |
| 36443444 | 2023 | Longitudinal effects of a common UMOD variant on kidney function, blood pressure, cognitive and physical function in older women and men. | 0 |
| 36681451 | 2023 | Uromodulin and CKD: insight into variant pathogenicity. | 0 |
| 36804854 | 2023 | SPP1 and UMOD gene variants are synergistically associated with risk of renal stone disease. | 1 |
| 37022471 | 2023 | Kidney function may partially mediated the protective effect of urinary uromodulin on kidney stone. | 1 |
| 37340540 | 2023 | Healthy Women Have Higher Systemic Uromodulin Levels: Identification of Uromodulin as an Estrogen Responsive Gene. | 2 |
| 38549605 | 2023 | UROMODULIN - A LINK BETWEEN SODIUM EXCRETION AND ALTERATION IN CIRCADIAN BLOOD PRESSURE PATTERN IN PREHYPERTENSIVES. | 0 |
| 36038257 | 2023 | A founder UMOD variant is a common cause of hereditary nephropathy in the British population. | 0 |
| 36443444 | 2023 | Longitudinal effects of a common UMOD variant on kidney function, blood pressure, cognitive and physical function in older women and men. | 0 |
| 36681451 | 2023 | Uromodulin and CKD: insight into variant pathogenicity. | 0 |
| 36804854 | 2023 | SPP1 and UMOD gene variants are synergistically associated with risk of renal stone disease. | 1 |
Citation
Dessen P
UMOD (uromodulin)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54753/umod-(uromodulin)
