Human Gene UMOD (ENST00000396138.9_10) from GENCODE V47lift37
  Description: uromodulin, transcript variant 9 (from RefSeq NR_165456.1)
Gencode Transcript: ENST00000396138.9_10
Gencode Gene: ENSG00000169344.16_18
Transcript (Including UTRs)
   Position: hg19 chr16:20,344,373-20,364,037 Size: 19,665 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr16:20,344,636-20,362,059 Size: 17,424 Coding Exon Count: 10 

Page IndexSequence and LinksPrimersMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsOther Names
GeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:20,344,373-20,364,037)mRNA (may differ from genome)Protein (640 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: UMOD
Diseases sorted by gene-association score: hyperuricemic nephropathy, familial juvenile 1* (1681), medullary cystic kidney disease 2* (1252), glomerulocystic kidney disease with hyperuricemia and isosthenuria* (1242), autosomal dominant medullary cystic kidney disease with hyperuricemia* (750), autosomal dominant tubulointerstitial kidney disease, umod-related* (500), familial juvenile hyperuricaemic nephropathy* (419), hyperuricemia (67), cystic kidney disease (42), kidney disease (37), gout (37), end stage renal failure (35), urinary system disease (16), cystitis (16), interstitial nephritis (13), nephrolithiasis, calcium oxalate (10), chronic pyelonephritis (10), vesicoureteral reflux (10), acute kidney tubular necrosis (9), nephrolithiasis (8), fabry disease (7), urinary tract obstruction (7), interstitial cystitis (7), xanthinuria, type i (7), nephronophthisis (7), pyelonephritis (6), bartter disease (5), congenital disorder of glycosylation, type in (5), chronic kidney failure (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 271.11 RPKM in Kidney - Cortex
Total median expression: 273.14 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -32.80129-0.254 Picture PostScript Text
3' UTR -77.00263-0.293 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Descriptions from all associated GenBank mRNAs
  M17778 - Human uromodulin (Tamm-Horsfall glycoprotein) mRNA, complete cds.
AK127643 - Homo sapiens cDNA FLJ45741 fis, clone KIDNE2015987, highly similar to Uromodulin precursor.
AK055722 - Homo sapiens cDNA FLJ31160 fis, clone KIDNE1000015, highly similar to UROMODULIN PRECURSOR.
AK091961 - Homo sapiens cDNA FLJ34642 fis, clone KIDNE2016918, highly similar to UROMODULIN PRECURSOR.
AK096043 - Homo sapiens cDNA FLJ38724 fis, clone KIDNE2010151, highly similar to UROMODULIN PRECURSOR.
AX747279 - Sequence 804 from Patent EP1308459.
M15881 - Human uromodulin (Tamm-Horsfall glycoprotein) mRNA, complete cds.
AK127648 - Homo sapiens cDNA FLJ45746 fis, clone KIDNE2018727, highly similar to Uromodulin precursor.
BC035975 - Homo sapiens uromodulin, mRNA (cDNA clone MGC:32619 IMAGE:4556427), complete cds.
JD075690 - Sequence 56714 from Patent EP1572962.
JD402899 - Sequence 383923 from Patent EP1572962.
JD537622 - Sequence 518646 from Patent EP1572962.
JD231069 - Sequence 212093 from Patent EP1572962.
JD277850 - Sequence 258874 from Patent EP1572962.
JD251636 - Sequence 232660 from Patent EP1572962.
AB590834 - Synthetic construct DNA, clone: pFN21AE2038, Homo sapiens UMOD gene for uromodulin, without stop codon, in Flexi system.
JD020697 - Sequence 1721 from Patent EP1572962.
JD033330 - Sequence 14354 from Patent EP1572962.
CU690246 - Synthetic construct Homo sapiens gateway clone IMAGE:100022010 5' read UMOD mRNA.
JD079103 - Sequence 60127 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000396138.1, ENST00000396138.2, ENST00000396138.3, ENST00000396138.4, ENST00000396138.5, ENST00000396138.6, ENST00000396138.7, ENST00000396138.8, NR_165456, uc318yai.1, uc318yai.2, UMOD , X6RBG4, X6RBG4_HUMAN
UCSC ID: ENST00000396138.9_10
RefSeq Accession: NM_003361.4

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene UMOD:
mckd2 (Autosomal Dominant Tubulointerstitial Kidney Disease -- UMOD)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.