UMOD (uromodulin)

2014-08-01  

Identity

HGNC
UMOD
LOCATION
16p12.3
LOCUSID
7369
ALIAS
ADMCKD2,ADTKD1,FJHN,HNFJ,HNFJ1,MCKD2,THGP,THP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 7369
MIM: 191845
HGNC: 12559
Ensembl: ENSG00000169344

Variants:

dbSNP: 7369
ClinVar: 7369
TCGA: ENSG00000169344
COSMIC: UMOD

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000169344ENST00000302509P07911
ENSG00000169344ENST00000396134P07911
ENSG00000169344ENST00000396138X6RBG4
ENSG00000169344ENST00000570689P07911
ENSG00000169344ENST00000570757I3L2J2
ENSG00000169344ENST00000570972Q8NHW8
ENSG00000169344ENST00000571174I3L1M3
ENSG00000169344ENST00000573567I3L3E0
ENSG00000169344ENST00000574195I3L3Z4
ENSG00000169344ENST00000576546I3L4B0
ENSG00000169344ENST00000576688I3L4Y6
ENSG00000169344ENST00000577168I3L2K2

Expression (GTEx)

0
500
1000
1500
2000
2500
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA165817016Kidney TransplantationDiseaseVariantAnnotationassociatedPD28418009
PA449167cyclosporineChemicalVariantAnnotationassociatedPD28418009

References

Pubmed IDYearTitleCitations
366425272024The Versatile Role of Uromodulin in Renal Homeostasis and Its Relevance in Chronic Kidney Disease.4
383699672024Uromodulin in sepsis and severe pneumonia: a two-sample Mendelian randomization study.0
366425272024The Versatile Role of Uromodulin in Renal Homeostasis and Its Relevance in Chronic Kidney Disease.4
383699672024Uromodulin in sepsis and severe pneumonia: a two-sample Mendelian randomization study.0
360382572023A founder UMOD variant is a common cause of hereditary nephropathy in the British population.0
364434442023Longitudinal effects of a common UMOD variant on kidney function, blood pressure, cognitive and physical function in older women and men.0
366814512023Uromodulin and CKD: insight into variant pathogenicity.0
368048542023SPP1 and UMOD gene variants are synergistically associated with risk of renal stone disease.1
370224712023Kidney function may partially mediated the protective effect of urinary uromodulin on kidney stone.1
373405402023Healthy Women Have Higher Systemic Uromodulin Levels: Identification of Uromodulin as an Estrogen Responsive Gene.2
385496052023UROMODULIN - A LINK BETWEEN SODIUM EXCRETION AND ALTERATION IN CIRCADIAN BLOOD PRESSURE PATTERN IN PREHYPERTENSIVES.0
360382572023A founder UMOD variant is a common cause of hereditary nephropathy in the British population.0
364434442023Longitudinal effects of a common UMOD variant on kidney function, blood pressure, cognitive and physical function in older women and men.0
366814512023Uromodulin and CKD: insight into variant pathogenicity.0
368048542023SPP1 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