UMOD (uromodulin)

2014-08-01 Affiliation

Identity

HGNC

UMOD

LOCATION

16p12.3

LOCUSID

7369

ALIAS

ADMCKD2,ADTKD1,FJHN,HNFJ,HNFJ1,MCKD2,THGP,THP

FUSION GENES

Show Gene Fusions

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

Gene ID	Transcript ID	Uniprot
ENSG00000169344	ENST00000302509	P07911
ENSG00000169344	ENST00000396134	P07911
ENSG00000169344	ENST00000396138	X6RBG4
ENSG00000169344	ENST00000570689	P07911
ENSG00000169344	ENST00000570757	I3L2J2
ENSG00000169344	ENST00000570972	Q8NHW8
ENSG00000169344	ENST00000571174	I3L1M3
ENSG00000169344	ENST00000573567	I3L3E0
ENSG00000169344	ENST00000574195	I3L3Z4
ENSG00000169344	ENST00000576546	I3L4B0
ENSG00000169344	ENST00000576688	I3L4Y6
ENSG00000169344	ENST00000577168	I3L2K2

Expression (GTEx)

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

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)

Not detected

Low

Medium

High

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
19430482	2009	Multiple loci associated with indices of renal function and chronic kidney disease.	245
21082022	2010	Genome-wide association study of blood pressure extremes identifies variant near UMOD associated with hypertension.	127
21082022	2010	Genome-wide association study of blood pressure extremes identifies variant near UMOD associated with hypertension.	127
12471200	2002	Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.	126
24185693	2013	Common noncoding UMOD gene variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expression.	95
20686651	2010	Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases.	67
20686651	2010	Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases.	67
19959715	2010	Uromodulin levels associate with a common UMOD variant and risk for incident CKD.	50
19959715	2010	Uromodulin levels associate with a common UMOD variant and risk for incident CKD.	50
14569098	2003	A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin.	46

Citation

Dessen P

UMOD (uromodulin)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54753/umod