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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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ZBTB18
zinc finger and BTB domain containing 18
Chromosome 1 Β· 1q44
NCBI Gene: 10472Ensembl: ENSG00000179456.13HGNC: HGNC:13030UniProt: Q99592
50PubMed Papers
21Diseases
0Drugs
76Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of transcription by RNA polymerase IInucleusheterochromatinnucleoplasmintellectual disability, autosomal dominant 22genetic disorderneurodegenerative diseaseIntellectual disability
✦AI Summary

ZBTB18 is a zinc finger transcriptional repressor essential for neurodevelopment and metabolic homeostasis. In the nervous system, ZBTB18 directly represses ID2 and ID3 to promote skeletal myogenesis and regulates progenitor cell division and postmitotic cortical neuron survival 1. ZBTB18 is required for neuronal differentiation, as its loss causes cytoskeletal defects, stunted neurites, and impaired MAP2+ neuron production 1. The protein binds consensus E-box sequences and recruits chr1 remodeling complexes to regulate RNA polymerase II-dependent transcription [UniProt]. Beyond neurodevelopment, hepatic ZBTB18 alleviates non-alcoholic fatty liver disease by transcriptionally activating Farnesoid X Receptor (FXR), promoting fatty acid oxidation and suppressing NLRP3 inflammasome activity 2. In glioblastoma, ZBTB18 exhibits tumor-suppressive function by repressing cytokine production, reducing immune cell recruitment, and altering immune cell polarization 3. Pathogenic de novo variants in ZBTB18 cause autosomal dominant intellectual developmental disorder 22 (IDHD22), characterized by global developmental delay, motor deficits, and variable cognitive impairment 45. ZBTB18 emerges as a critical regulator across multiple biological systems, with disease relevance spanning neurodevelopmental disorders and metabolic disease 67.

Sources cited
1
ZBTB18 is essential for neuronal differentiation; its loss causes cytoskeletal defects, stunted neurites and spines, and reduced MAP2-positive neuron production
PMID: 38102126
2
Hepatic ZBTB18 alleviates NAFLD by transcriptionally activating FXR to promote fatty acid oxidation and inhibit NLRP3 inflammasome activity
PMID: 38263084
3
ZBTB18 has tumor-suppressive function in glioblastoma by repressing cytokine production and reducing immune cell recruitment and polarization
PMID: 39516530
4
De novo ZBTB18 variants cause autosomal dominant intellectual disability 22 with developmental delay and motor deficits
PMID: 38215144
5
ZBTB18 identified as neurodevelopmental disorder risk gene with phenotype-genotype correlations in large-scale targeted sequencing
PMID: 33004838
6
ZBTB18 among genes enriched in damaging de novo mutations in developmental disorders
PMID: 28135719
7
ZBTB18 identified as novel gene associated with developmental and epileptic encephalopathy with spike-wave activation in sleep
PMID: 39096015
Disease Associationsβ“˜21
intellectual disability, autosomal dominant 22Open Targets
0.73Strong
genetic disorderOpen Targets
0.52Moderate
neurodegenerative diseaseOpen Targets
0.49Moderate
Intellectual disabilityOpen Targets
0.47Moderate
Global developmental delayOpen Targets
0.37Weak
complex neurodevelopmental disorderOpen Targets
0.37Weak
Neurodevelopmental delayOpen Targets
0.34Weak
colorectal cancerOpen Targets
0.27Weak
gram-negative bacterial infectionsOpen Targets
0.27Weak
marfanoid habitus and intellectual disabilityOpen Targets
0.27Weak
hypopituitarismOpen Targets
0.27Weak
body weight gainOpen Targets
0.26Weak
developmental disabilityOpen Targets
0.26Weak
Neurodevelopmental abnormalityOpen Targets
0.26Weak
rhabdomyosarcomaOpen Targets
0.20Weak
lower urinary tract calculusOpen Targets
0.19Weak
uterine fibroidOpen Targets
0.17Weak
Uterine leiomyomaOpen Targets
0.17Weak
Abnormal blistering of the skinOpen Targets
0.14Weak
systemic primary carnitine deficiency diseaseOpen Targets
0.12Weak
Intellectual developmental disorder, autosomal dominant 22UniProt
Pathogenic Variants76
NM_205768.3(ZBTB18):c.1306C>T (p.Arg436Cys)Likely pathogenic
Intellectual disability, autosomal dominant 22|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 436
NM_205768.3(ZBTB18):c.1391G>A (p.Arg464His)Pathogenic
Intellectual disability, autosomal dominant 22|not provided|Intellectual disability
β˜…β˜…β˜†β˜†2025β†’ Residue 464
NM_205768.3(ZBTB18):c.1174del (p.His392fs)Likely pathogenic
not provided|Intellectual disability, autosomal dominant 22
β˜…β˜…β˜†β˜†2025β†’ Residue 392
NM_205768.3(ZBTB18):c.1391G>T (p.Arg464Leu)Likely pathogenic
Intellectual disability, autosomal dominant 22|Intellectual disability
β˜…β˜…β˜†β˜†2024β†’ Residue 464
NM_205768.3(ZBTB18):c.142C>T (p.Arg48Ter)Pathogenic
Intellectual disability, autosomal dominant 22|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 48
NM_205768.3(ZBTB18):c.1307G>A (p.Arg436His)Pathogenic
Intellectual disability, autosomal dominant 22|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 436
NM_205768.3(ZBTB18):c.1183C>T (p.Gln395Ter)Pathogenic
Inborn genetic diseases|Intellectual disability, autosomal dominant 22|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 395
NM_205768.3(ZBTB18):c.1382A>G (p.Asn461Ser)Pathogenic
Inborn genetic diseases|Intellectual disability, autosomal dominant 22|Intellectual disability|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 461
NM_205768.3(ZBTB18):c.160T>C (p.Cys54Arg)Likely pathogenic
Intellectual disability, autosomal dominant 22|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 54
NM_205768.3(ZBTB18):c.1147del (p.Leu383fs)Likely pathogenic
not provided|Intellectual disability, autosomal dominant 22
β˜…β˜…β˜†β˜†2022β†’ Residue 383
NM_205768.3(ZBTB18):c.1406A>G (p.His469Arg)Pathogenic
not provided|Intellectual disability, autosomal dominant 22
β˜…β˜…β˜†β˜†2022β†’ Residue 469
NM_205768.3(ZBTB18):c.133C>T (p.Arg45Ter)Pathogenic
not provided|Intellectual disability, autosomal dominant 22
β˜…β˜…β˜†β˜†2021β†’ Residue 45
NM_205768.3(ZBTB18):c.1378C>T (p.His460Tyr)Pathogenic
Intellectual disability, autosomal dominant 22|not provided
β˜…β˜…β˜†β˜†2020β†’ Residue 460
NM_205768.3(ZBTB18):c.943_944del (p.Arg315fs)Pathogenic
not provided|Intellectual disability, autosomal dominant 22
β˜…β˜…β˜†β˜†2020β†’ Residue 315
NM_205768.3(ZBTB18):c.1322_1325del (p.His441fs)Pathogenic
Intellectual disability, autosomal dominant 22
β˜…β˜†β˜†β˜†2025β†’ Residue 441
NM_205768.3(ZBTB18):c.1019_1020dup (p.Ala341fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 341
NM_205768.3(ZBTB18):c.162C>A (p.Cys54Ter)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 54
NM_205768.3(ZBTB18):c.942_943dup (p.Arg315fs)Pathogenic
Intellectual disability, autosomal dominant 22
β˜…β˜†β˜†β˜†2025β†’ Residue 315
NM_205768.3(ZBTB18):c.1282_1283del (p.Phe428fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 428
NM_205768.3(ZBTB18):c.1457A>G (p.Gln486Arg)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 486
View on ClinVar β†—
Related Genes
TSNProtein interaction87%CTBP2Protein interaction79%ID2Protein interaction73%RTL1Shared pathway50%MYL11Shared pathway50%MYOZ2Shared pathway33%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
66%
Liver
38%
Heart
36%
Lung
22%
Ovary
15%
Gene Interaction Network
Click a node to explore
ZBTB18TSNCTBP2ID2RTL1MYL11MYOZ2
PROTEIN STRUCTURE
Preparing viewer…
PDB8P2P Β· 4.15 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.13Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.03 [0.01–0.13]
RankingsWhere ZBTB18 stands among ~20K protein-coding genes
  • #8,898of 20,598
    Most Researched50
  • #973of 5,498
    Most Pathogenic Variants76 Β· top quartile
  • #134of 17,882
    Most Constrained (LOEUF)0.13 Β· top 1%
Genes detectedZBTB18
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
PMID: 33004838
Nat Commun Β· 2020
1.00
2
Prevalence and architecture of de novo mutations in developmental disorders.
PMID: 28135719
Nature Β· 2017
0.90
3
Hepatic Zbtb18 (Zinc Finger and BTB Domain Containing 18) alleviates hepatic steatohepatitis via FXR (Farnesoid X Receptor).
PMID: 38263084
Signal Transduct Target Ther Β· 2024
0.80
4
A de novo variant in ZBTB18 gene caused autosomal dominant non-syndromic intellectual disability 22 syndrome: A case report and literature review.
PMID: 38215144
Medicine (Baltimore) Β· 2024
0.70
5
ZBTB18 regulates cytokine expression and affects microglia/macrophage recruitment and commitment in glioblastoma.
PMID: 39516530
Commun Biol Β· 2024
0.60