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Gene

UMOD

uromodulin

Summary

Cytogenetic location
16p12.3
Coordinates
Chromosome 16: 20,333,051–20,352,715 (GRCh38)
Exons
11 exons across 19.7 kb
Protein
640 amino acids
MANE Select transcript
ENST00000396138.9NM_003361.4
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

  • Autosomal Dominant Tubulointerstitial Kidney Disease

    • Autosomal Dominant Medullary Cystic Kidney DiseaseAutosomal dominant

      A dominantly inherited tubulointerstitial kidney disease, including the MUC1 form, that leads to slowly progressive kidney failure in adulthood.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      Actionability

      Knowing supports kidney function monitoring and careful evaluation of related living kidney donors.

    • Familial Juvenile Hyperuricemic NephropathyAutosomal dominant

      A dominantly inherited tubulointerstitial kidney disease, most often caused by UMOD variants (and also REN or SEC61A1), with high uric acid, early gout and gradual loss of kidney function.

      • 3 GenCC submitters rate it definitive or strong
      Actionability

      Knowing supports kidney function monitoring, gout treatment and careful evaluation of related living kidney donors; the REN form may respond to fludrocortisone.

How UMOD is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 16, with a bracket where UMOD sits. UMOD and 13 genes near it on chromosome 16, from 19,842,883 to 20,842,882.Chromosome 1616p12.3p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.320 Mb20.2 Mb20.4 Mb20.6 Mb20.8 MbIQCK: 19,716,456–19,858,467, forward strandIQCKGPRC5B: 19,856,691–19,886,173, reverse strandGPRC5BGPR139: 20,028,239–20,073,890, reverse strandGPR139GP2: 20,309,574–20,328,412, reverse strandGP2UMOD: 20,333,051–20,352,715, reverse strandUMODPDILT: 20,359,175–20,404,737, reverse strandPDILTACSM5: 20,409,308–20,441,337, forward strandACSM5ACSM2A: 20,444,012–20,487,669, forward strandACSM2AACSM2B: 20,533,999–20,576,442, reverse strandACSM2BACSM3: 20,610,243–20,797,843, forward strandACSM3ACSM1: 20,623,233–20,698,890, reverse strandACSM1THUMPD1: 20,702,816–20,742,084, reverse strandTHUMPD1ERI2: 20,780,193–20,900,349, reverse strandERI2REXO5: 20,806,157–20,850,126, forward strandREXO5Diagram of UMOD: 11 exons on the reverse strand of chromosome 16Exon 8: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 4: 7 known disease-causing sitesExon 3: 59 known disease-causing sitesExon 11: 20,333,051–20,333,375, 325 basesExon 10: 20,335,482–20,335,520, 39 basesExon 9: 20,336,646–20,336,727, 82 basesExon 8: 20,337,291–20,337,453, 163 basesExon 7: 20,341,091–20,341,336, 246 basesExon 6: 20,344,024–20,344,172, 149 basesExon 5: 20,346,126–20,346,334, 209 basesExon 4: 20,348,223–20,348,330, 108 basesExon 3: 20,348,436–20,349,212, 777 basesExon 2: 20,350,650–20,350,839, 190 basesExon 1: 20,352,689–20,352,715, 27 bases11109876543215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2.3 kb of the gene's 19.7 kb; 1,923 of those bases code for the protein.

Sequencing UMOD

69

positions in UMOD where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 19.7 kb of UMOD, introns included, not only the 2.3 kb of exons.

Genes linked to the same conditions

Traits linked to UMOD

The Human Phenotype Ontology lists these as features of the rare conditions UMOD can cause. Each trait's page lists the other genes linked to it.

External links

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-17: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.17-8666dff2.

Cite this page

APA

Dante Labs. (n.d.). UMOD gene: uromodulin. Retrieved 17 October 2026, from https://dantelabs.com/genes/umod

Vancouver

Dante Labs. UMOD gene: uromodulin [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/umod

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