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Gene

UNC93B1

unc-93B1 regulator of TLR signaling

Summary

Cytogenetic location
11q13.2
Coordinates
Chromosome 11: 67,991,100–68,004,097 (GRCh38)
Exons
11 exons across 13 kb
Protein
597 amino acids
Also known as
UNC93, UNC-93B
MANE Select transcript
ENST00000227471.7NM_030930.4
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

  • Autoimmune Disease

    • A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis).

      • ClinGen rates the link moderate

  • Systemic Lupus Erythematosus

    • An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific.

      • ClinGen rates the link moderate
      What knowing changes

      Standard SLE: hydroxychloroquine, mycophenolate, belimumab, anifrolumab; Complement-deficient lupus: FFP replacement; Interferonopathy: anifrolumab, JAK inhibitors; All: sun protection, cardiovascular risk management, pregnancy planning

How UNC93B1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 11, with a bracket where UNC93B1 sits. UNC93B1 and 17 genes near it on chromosome 11, from 67,497,599 to 68,497,598.Chromosome 1111q13.2p15.5p15.4p15.3p15.2p15.1p14.3p14.2p14.1p13p12p11.2p11.12p11.11q11q12.1q12.2q12.3q13.1q13.2q13.3q13.4q13.5q14.1q14.2q14.3q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q2567.6 Mb67.8 Mb68 Mb68.2 Mb68.4 MbPITPNM1: 67,491,075–67,506,263, reverse strandPITPNM1CDK2AP2: 67,506,490–67,508,701, reverse strandCDK2AP2CABP2: 67,518,912–67,524,517, reverse strandCABP2GSTP1: 67,583,523–67,592,110, forward strandGSTP1NDUFV1: 67,605,653–67,612,554, forward strandNUDT8: 67,627,937–67,630,112, reverse strandNUDT8TBX10: 67,631,303–67,639,767, reverse strandTBX10ACY3: 67,642,551–67,650,900, reverse strandACY3ALDH3B2: 67,662,155–67,681,224, reverse strandALDH3B2UNC93B1: 67,991,100–68,004,097, reverse strandUNC93B1ALDH3B1: 68,008,543–68,029,282, forward strandALDH3B1NDUFS8: 68,030,617–68,036,649, forward strandNDUFS8TCIRG1: 68,038,977–68,050,899, forward strandTCIRG1CHKA: 68,052,848–68,121,449, reverse strandCHKAKMT5B: 68,154,863–68,214,134, reverse strandKMT5BC11orf24: 68,261,335–68,272,001, reverse strandC11orf24LRP5: 68,312,430–68,449,275, forward strandLRP5PPP6R3: 68,460,475–68,615,343, forward strandPPP6R3Diagram of UNC93B1: 11 exons on the reverse strand of chromosome 11Exon 8: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 3: 2 known disease-causing sitesExon 2: 1 known disease-causing siteExon 11: 67,991,100–67,991,857, 758 basesExon 10: 67,993,676–67,993,794, 119 basesExon 9: 67,995,611–67,995,884, 274 basesExon 8: 67,996,602–67,996,784, 183 basesExon 7: 67,997,675–67,997,799, 125 basesExon 6: 67,998,359–67,998,452, 94 basesExon 5: 67,999,173–67,999,305, 133 basesExon 4: 67,999,519–67,999,680, 162 basesExon 3: 68,003,022–68,003,175, 154 basesExon 2: 68,003,657–68,003,798, 142 basesExon 1: 68,003,948–68,004,097, 150 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 13 kb; 1,794 of those bases code for the protein.

How a genome test reads UNC93B1

11

positions in UNC93B1 where ClinVar classes a change as pathogenic or likely pathogenic

2 of them (18%) fall in regions short reads find hard.

  • Low mappability (1 site)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
  • Segmental duplications (2 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 13 kb of UNC93B1, introns included, not only the 2.3 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.). UNC93B1 gene: unc-93B1 regulator of TLR signaling. Retrieved 17 October 2026, from https://dantelabs.com/genes/unc93b1

Vancouver

Dante Labs. UNC93B1 gene: unc-93B1 regulator of TLR signaling [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/unc93b1

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