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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
UBTF
upstream binding transcription factor
Chromosome 17 Β· 17q21.31
NCBI Gene: 7343Ensembl: ENSG00000108312.17HGNC: HGNC:12511UniProt: P17480
239PubMed Papers
21Diseases
0Drugs
7Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleolusRNA polymerase I core promoter sequence-specific DNA bindingRNA polymerase I cis-regulatory region sequence-specific DNA bindingRNA polymerase I general transcription initiation factor activitychildhood-onset motor and cognitive regression syndrome with extrapyramidal movement disordergenetic disorderrare syndromic intellectual disabilityneurodegenerative disease
✦AI Summary

UBTF (upstream binding transcription factor) is a transcription factor that primarily functions to recognize ribosomal RNA gene promoters and activate transcription by RNA polymerase I through cooperative interactions with the SL1/TIF-IB complex. However, recent research has revealed that UBTF tandem duplications (UBTF-TD) represent a significant oncogenic driver in pediatric hematologic malignancies. UBTF-TD alterations occur in approximately 9% of relapsed pediatric acute myeloid leukemia (AML) cases and 4% of de novo pediatric AML 1. These duplications involve exon 13 and create a gain-of-function alteration that causes UBTF protein to mislocalize from ribosomal DNA loci to dysregulated genomic targets, including HOXA/HOXB gene clusters and MEIS1 2. UBTF-TD leukemias are characterized by poor chemotherapy response, normal karyotype or trisomy 8, and frequent co-occurring WT1 mutations or FLT3-ITD 1. The aberrant protein co-occupies genomic loci with KMT2A and menin, making these leukemias sensitive to menin inhibitors like SNDX-5613 2. UBTF alterations also occur in B-cell acute lymphoblastic leukemia through UBTF::ATXN7L3 fusions, which define a high-risk subtype associated with CDX2 deregulation 3. These findings establish UBTF alterations as important therapeutic targets in pediatric hematologic malignancies.

Sources cited
1
UBTF-TD occurs in 9% of relapsed pediatric AML and 4% of de novo pediatric AML, associated with poor outcomes
PMID: 35176137
2
UBTF-TD causes protein mislocalization to HOX gene clusters and MEIS1, and leukemias are sensitive to menin inhibitors
PMID: 37890156
3
UBTF::ATXN7L3 fusions with CDX2 deregulation define a high-risk B-ALL subtype
PMID: 35192684
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorderOpen Targets
0.74Strong
genetic disorderOpen Targets
0.41Moderate
rare syndromic intellectual disabilityOpen Targets
0.34Weak
neurodegenerative diseaseOpen Targets
0.29Weak
upper respiratory tract disorderOpen Targets
0.15Weak
diverticular diseaseOpen Targets
0.14Weak
Neurodevelopmental disorderOpen Targets
0.12Weak
Abnormality of the skeletal systemOpen Targets
0.10Weak
acute myeloid leukemiaOpen Targets
0.10Suggestive
hemolysisOpen Targets
0.08Suggestive
melanomaOpen Targets
0.08Suggestive
leukemiaOpen Targets
0.07Suggestive
sleep apneaOpen Targets
0.06Suggestive
acute lymphoblastic leukemiaOpen Targets
0.06Suggestive
myeloid neoplasmOpen Targets
0.05Suggestive
Senior-Boichis syndromeOpen Targets
0.04Suggestive
hepatorenocardiac degenerative fibrosisOpen Targets
0.04Suggestive
hemochromatosis type 2BOpen Targets
0.04Suggestive
progressive familial intrahepatic cholestasisOpen Targets
0.03Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.03Suggestive
Neurodegeneration, childhood-onset, with brain atrophyUniProt
Pathogenic Variants7
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys)Pathogenic
UBTF E210K Neuroregression Syndrome|Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder|Infantile or childhood onset neurodegenerative disease, global developmental delay, and intellectual disability|UBTF-related disorder|Inborn genetic diseases|Rare syndromic intellectual disability|See cases|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 210
NM_014233.4(UBTF):c.648dup (p.Val217fs)Likely pathogenic
UBTF-related disorder
β˜…β˜†β˜†β˜†2025β†’ Residue 217
NM_014233.4(UBTF):c.1426G>A (p.Glu476Lys)Likely pathogenic
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
β˜…β˜†β˜†β˜†2024β†’ Residue 476
NM_014233.4(UBTF):c.924C>G (p.Tyr308Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 308
NM_014233.4(UBTF):c.2014C>T (p.Gln672Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 672
NM_014233.4(UBTF):c.1047+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2017
NM_014233.4(UBTF):c.1878C>A (p.Tyr626Ter)Likely pathogenic
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
β˜†β˜†β˜†β˜†2025β†’ Residue 626
View on ClinVar β†—
Related Genes
POLR1BProtein interaction100%NOP56Protein interaction100%POLIProtein interaction100%H3C13Protein interaction98%CTCFProtein interaction98%TBPProtein interaction97%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
65%
Brain
63%
Ovary
59%
Liver
59%
Lung
53%
Gene Interaction Network
Click a node to explore
UBTFPOLR1BNOP56POLIH3C13CTCFTBP
PROTEIN STRUCTURE
Preparing viewer…
PDB2HDZ Β· 2.00 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.13Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.07 [0.04–0.13]
RankingsWhere UBTF stands among ~20K protein-coding genes
  • #1,650of 20,598
    Most Researched239 Β· top 10%
  • #3,157of 5,498
    Most Pathogenic Variants7
  • #149of 17,882
    Most Constrained (LOEUF)0.13 Β· top 1%
Genes detectedUBTF
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Emerging molecular subtypes and therapies in acute lymphoblastic leukemia.
PMID: 37120350
Semin Diagn Pathol Β· 2023
1.00
2
A new genomic framework to categorize pediatric acute myeloid leukemia.
PMID: 38212634
Nat Genet Β· 2024
0.90
3
Acute myeloid leukemias with UBTF tandem duplications are sensitive to menin inhibitors.
PMID: 37890156
Blood Β· 2024
0.80
4
Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia.
PMID: 35176137
Blood Cancer Discov Β· 2022
0.70
5
PMID: 38426285
Haematologica Β· 2024
0.68