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GeneE
25 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.
TBL1XR1
TBL1X/Y related 1
Chromosome 3 Β· 3q26.32
NCBI Gene: 79718Ensembl: ENSG00000177565.19HGNC: HGNC:29529UniProt: C9JLJ1
169PubMed Papers
22Diseases
0Drugs
112Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
transcription cis-regulatory region bindingpositive regulation of canonical Wnt signaling pathwaynucleusmitotic spindlePierpont syndromeintellectual disability, autosomal dominant 41diffuse large B-cell lymphomaneurodegenerative disease
✦AI Summary

TBL1XR1 is an F-box-like protein that functions as an integral component of the N-CoR corepressor complex, mediating recruitment of the 19S proteasome to nuclear receptor-regulated transcription units 1. The protein plays an essential role in transcription activation by facilitating proteasomal degradation of N-CoR complexes, enabling cofactor exchange and transcriptional switching 2. TBL1XR1 coordinates with SMRT/HDAC3 repressor complexes and interacts with key transcriptional regulators including BACH2 and BCL6, thereby controlling cell-fate decisions in B cell development 1. Pathogenic TBL1XR1 variants cause intellectual developmental disorder and autism spectrum disorder, with de novo mutations contributing to approximately 1% of sporadic autism cases 3. The mutant protein skews B cell differentiation toward abnormal immature memory cells while impairing plasma cell formation, driving extranodal lymphomagenesis through cyclic germinal center reentry 1. TBL1XR1 mutations are recurrent in diffuse large B-cell lymphoma, particularly in the MCD-like genetic subtype associated with poor prognosis and activated B-cell origin 4. Clinically, TBL1XR1 mutations in neurodevelopmental disorders manifest with global developmental delay, speech impairment, intellectual disability, hypotonia, and facial deformity 5. Additionally, TBL1XR1 mutations may predict favorable response to ibrutinib in CNS lymphoma 6.

Sources cited
1
TBL1XR1 mutations alter B cell fate by redirecting SMRT/HDAC3 complexes to bind BACH2, driving memory B cell expansion and extranodal lymphoma development
PMID: 32619424
2
TBL1XR1 functions as N-terminal partner in TP63 fusions that coordinate NCoR-HDAC3 complex recruitment and drive lymphomagenesis
PMID: 37729434
3
Recurrent disruptive mutations in TBL1XR1 contribute to approximately 1% of sporadic autism spectrum disorders
PMID: 23160955
4
TBL1XR1 mutations are part of the MCD-like genetic subtype of diffuse large B-cell lymphoma, associated with poor prognosis and activated B-cell origin
PMID: 37032379
5
TBL1XR1 de novo variants cause global developmental delay, intellectual developmental disorder, speech impairment, and autism in affected individuals
PMID: 37683765
6
TBL1XR1 mutations may be associated with long-term response to ibrutinib in primary central nervous system lymphoma
PMID: 38995739
7
TBL1XR1 mutations in neurodevelopmental disorders present with language delay, motor delay, intellectual disability, facial deformity, and hypotonia
PMID: 32524419
Disease Associationsβ“˜22
Pierpont syndromeOpen Targets
0.79Strong
intellectual disability, autosomal dominant 41Open Targets
0.76Strong
diffuse large B-cell lymphomaOpen Targets
0.59Moderate
neurodegenerative diseaseOpen Targets
0.55Moderate
asthmaOpen Targets
0.50Moderate
genetic disorderOpen Targets
0.48Moderate
Paraplegia - brachydactyly - cone-shaped epiphysisOpen Targets
0.46Moderate
adult onset asthmaOpen Targets
0.44Moderate
respiratory system diseaseOpen Targets
0.42Moderate
mathematical abilityOpen Targets
0.41Moderate
Intellectual disabilityOpen Targets
0.40Moderate
childhood onset asthmaOpen Targets
0.38Weak
lymphomaOpen Targets
0.38Weak
Central Nervous System LymphomaOpen Targets
0.37Weak
autismOpen Targets
0.37Weak
anaplastic large cell lymphomaOpen Targets
0.37Weak
adult T-cell leukemia/lymphomaOpen Targets
0.37Weak
viral diseaseOpen Targets
0.37Weak
lung carcinomaOpen Targets
0.37Weak
nodular melanomaOpen Targets
0.37Weak
Intellectual developmental disorder, autosomal dominant 41UniProt
Pierpont syndromeUniProt
Pathogenic Variants112
NM_024665.7(TBL1XR1):c.1184A>G (p.Tyr395Cys)Pathogenic
Pierpont syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 395
NM_024665.7(TBL1XR1):c.1337A>G (p.Tyr446Cys)Pathogenic
Pierpont syndrome|not provided|Malignant lymphoma, large B-cell, diffuse|TBL1XR1-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 446
NM_024665.7(TBL1XR1):c.734A>G (p.Tyr245Cys)Pathogenic
Intellectual disability, autosomal dominant 41|Pierpont syndrome|not provided|Pierpont syndrome;Intellectual disability, autosomal dominant 41
β˜…β˜…β˜†β˜†2025β†’ Residue 245
NM_024665.7(TBL1XR1):c.1108G>A (p.Asp370Asn)Pathogenic
not provided|Intellectual disability|Inborn genetic diseases|Intellectual disability, autosomal dominant 41|Pierpont syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 370
NM_024665.7(TBL1XR1):c.1000T>C (p.Cys334Arg)Pathogenic
Intellectual disability, autosomal dominant 41|Pierpont syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 334
NM_024665.7(TBL1XR1):c.1379G>A (p.Gly460Asp)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 460
NM_024665.7(TBL1XR1):c.1291C>T (p.Arg431Ter)Pathogenic
Intellectual disability|not provided|Pierpont syndrome;Intellectual disability, autosomal dominant 41
β˜…β˜…β˜†β˜†2025β†’ Residue 431
NM_024665.7(TBL1XR1):c.226C>T (p.Arg76Ter)Pathogenic
Pierpont syndrome|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 76
NM_024665.7(TBL1XR1):c.327_357dup (p.Gln120fs)Pathogenic
not provided|Pierpont syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 120
NM_024665.7(TBL1XR1):c.208G>T (p.Gly70Cys)Pathogenic
Pierpont syndrome|TBL1XR1-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 70
NM_024665.7(TBL1XR1):c.205-7A>GPathogenic
Pierpont syndrome|Intellectual disability, autosomal dominant 41
β˜…β˜…β˜†β˜†2023
NM_024665.7(TBL1XR1):c.1043A>G (p.His348Arg)Likely pathogenic
Intellectual disability, autosomal dominant 41|See cases
β˜…β˜…β˜†β˜†2021β†’ Residue 348
NM_024665.7(TBL1XR1):c.987G>A (p.Met329Ile)Pathogenic
not provided|Pierpont syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 329
NM_024665.7(TBL1XR1):c.864+1G>ALikely pathogenic
Pierpont syndrome
β˜…β˜†β˜†β˜†2025
NM_024665.7(TBL1XR1):c.160C>T (p.Gln54Ter)Pathogenic
Intellectual disability, autosomal dominant 41
β˜…β˜†β˜†β˜†2025β†’ Residue 54
NM_024665.7(TBL1XR1):c.860A>T (p.Asp287Val)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 287
NM_024665.7(TBL1XR1):c.1251-1G>APathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_024665.7(TBL1XR1):c.820T>A (p.Trp274Arg)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 274
NM_024665.7(TBL1XR1):c.1177_1180del (p.Glu393fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 393
NM_024665.7(TBL1XR1):c.551T>G (p.Leu184Arg)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 184
View on ClinVar β†—
Related Genes
GPS2Protein interaction100%MECP2Protein interaction100%HDAC8Protein interaction100%KMT2EProtein interaction100%BCL6Protein interaction97%CTBP1Protein interaction97%
Tissue Expression6 tissues
Heart
100%
Brain
92%
Bone Marrow
87%
Lung
70%
Ovary
69%
Liver
62%
Gene Interaction Network
Click a node to explore
TBL1XR1GPS2MECP2HDAC8KMT2EBCL6CTBP1
PROTEIN STRUCTURE
Preparing viewer…
PDB4LG9 Β· 2.28 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.17Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.08 [0.04–0.17]
RankingsWhere TBL1XR1 stands among ~20K protein-coding genes
  • #2,635of 20,598
    Most Researched169 Β· top quartile
  • #698of 5,498
    Most Pathogenic Variants112 Β· top quartile
  • #311of 17,882
    Most Constrained (LOEUF)0.17 Β· top 5%
Genes detectedTBL1XR1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
TBL1XR1 Mutations Drive Extranodal Lymphoma by Inducing a Pro-tumorigenic Memory Fate.
PMID: 32619424
Cell Β· 2020
1.00
2
Simplified algorithm for genetic subtyping in diffuse large B-cell lymphoma.
PMID: 37032379
Signal Transduct Target Ther Β· 2023
0.90
3
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
PMID: 23160955
Science Β· 2012
0.80
4
The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects.
PMID: 38378692
Orphanet J Rare Dis Β· 2024
0.72
5
Expanding the genotypic and phenotypic spectrum associated with TBL1XR1 de novo variants.
PMID: 37683765
Gene Β· 2023
0.70