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Gene

THBD

thrombomodulin

Summary

Cytogenetic location
20p11.21
Coordinates
Chromosome 20: 23,045,633–23,049,672 (GRCh38)
Exons
1 exon across 4 kb
Protein
575 amino acids
Inheritance
Autosomal dominant
Also known as
CD141, THRM, BDCA-3
MANE Select transcript
ENST00000377103.3NM_000361.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Hemolytic Uremic Syndrome, Interstitial Nephritis

    • Atypical Hemolytic-Uremic Syndrome With Thrombomodulin AnomalyAutosomal dominant
      • 2 GenCC submitters rate it definitive or strong
    • Atypical Hemolytic Uremic Syndrome With Complement Gene AbnormalityAutosomal dominant
      • 2 GenCC submitters rate it definitive or strong
    • Atypical Hemolytic-Uremic SyndromeAutosomal dominant

      A rare, genetic thrombotic microangiopathy due to dysregulation of the alternative complement pathway and characterized by the triad of hemolytic anemia, thrombocytopenia, and acute renal dysfunction.

      • 2 GenCC submitters rate it definitive or strong
    • Hemolytic-Uremic Syndrome

      Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia.

      • 2 GenCC submitters rate it definitive or strong
    • Hereditary Hemolytic Uremic Syndrome
      • 2 GenCC submitters rate it definitive or strong

  • Thrombophilia

    • Inherited Thrombophilia
      • ClinGen rates the link moderate
      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Anticoagulation (duration by genotype); avoid estrogen-containing contraceptives; LMWH for pregnancy prophylaxis; extended post-surgical anticoagulation; lifelong anticoagulation for compound/high-risk genotypes

Broader groupings

  • Other Inborn Errors of Immunity

    • Inborn error of immunity

      One of 114 genes linked to it

      Inherited disorders of the immune system caused by changes in single genes, affecting how the body fights infection or regulates inflammation.

      • 2 GenCC submitters rate it definitive or strong
    • Immunodeficiency Disease

      One of 170 genes linked to it

      Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How THBD is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 20, with a bracket where THBD sits. THBD and 9 genes near it on chromosome 20, from 22,547,653 to 23,547,652.Chromosome 2020p11.21p13p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12q13.11q13.12q13.13q13.2q13.31q13.32q13.3322.6 Mb22.8 Mb23 Mb23.2 Mb23.4 MbFOXA2: 22,580,998–22,585,498, reverse strandFOXA2SSTR4: 23,035,312–23,039,237, forward strandSSTR4THBD: 23,045,633–23,049,672, reverse strandTHBDCD93: 23,065,139–23,086,393, reverse strandCD93NXT1: 23,350,148–23,354,771, forward strandNXT1GZF1: 23,361,987–23,373,084, forward strandGZF1NAPB: 23,371,267–23,421,520, reverse strandNAPBCSTL1: 23,426,104–23,444,930, forward strandCSTL1CST11: 23,450,403–23,453,210, reverse strandCST11CST8: 23,491,101–23,496,010, forward strandCST8Diagram of THBD: one exon on the reverse strand of chromosome 20Exon 1: 8 known disease-causing sitesExon 1: 23,045,633–23,049,672, 4,040 bases15′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 4 kb of the gene's 4 kb; 1,728 of those bases code for the protein.

How a genome test reads THBD

8

positions in THBD 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 4 kb of THBD, introns included, not only the 4 kb of exons.

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 2026-10-16: 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 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). THBD gene: thrombomodulin. Retrieved 17 October 2026, from https://dantelabs.com/genes/thbd

Vancouver

Dante Labs. THBD gene: thrombomodulin [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/thbd

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