Gene
UNG
uracil DNA glycosylase
- HGNC 12572↗(opens in a new tab)
- Ensembl gene ENSG00000076248↗(opens in a new tab)
- NCBI Gene 7374↗(opens in a new tab)
Summary
- Cytogenetic location
- 12q24.11
- Coordinates
- Chromosome 12: 109,097,597–109,110,992 (GRCh38)
- Exons
- 7 exons across 13.4 kb
- Protein
- 313 amino acids
- Also known as
- UDG, UNG1, UNG2, HIGM4
- Previous symbols
- DGU
- MANE Select transcript
- ENST00000242576.7NM_080911.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
Hyper-IgM Syndromes
- Hyper-IgM syndrome
Defective antibody class switching caused by changes in CD40LG (X-linked), CD40, AICDA or UNG.
- ClinGen rates the link moderate
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Immunoglobulin replacement is standard; CD40L and CD40 deficiency also need Pneumocystis prophylaxis, safe drinking water to prevent cryptosporidium and consideration of stem cell transplantation.
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.
- ClinGen rates the link moderate
- 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.
- ClinGen rates the link moderate
- 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
How UNG is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 kb of the gene's 13.4 kb; 942 of those bases code for the protein.
How a genome test reads UNG
20
positions in UNG 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 13.4 kb of UNG, introns included, not only the 2 kb of exons.
Genes linked to the same conditions
- AICDAactivation induced cytidine deaminaseShares 3 conditions
- CD40CD40 moleculeShares 3 conditions
- CD40LGCD40 ligandShares 3 conditions
- ATP6AP1ATPase H+ transporting accessory protein 1Shares 2 conditions
- BCL10BCL10 immune signaling adaptorShares 2 conditions
- BCL11BBCL11 transcription factor BShares 2 conditions
- BLNKB cell linkerShares 2 conditions
- BTKBruton tyrosine kinaseShares 2 conditions
- C1QAcomplement C1q A chainShares 2 conditions
- C1QBcomplement C1q B chainShares 2 conditions
- C1QCcomplement C1q C chainShares 2 conditions
- C1Scomplement C1sShares 2 conditions
Traits linked to UNG
The Human Phenotype Ontology lists these as features of the rare conditions UNG can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
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
Dante Labs. (n.d.). UNG gene: uracil DNA glycosylase. Retrieved 17 October 2026, from https://dantelabs.com/genes/ung
Dante Labs. UNG gene: uracil DNA glycosylase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ung
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