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GeneE
3 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ZBTB42
zinc finger and BTB domain containing 42
Chromosome 14 Β· 14q32.33
NCBI Gene: 100128927Ensembl: ENSG00000179627.11HGNC: HGNC:32550UniProt: B2RXF5
15PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleusnucleoplasmprotein bindingmuscle organ developmentlethal congenital contracture syndromeprostate carcinomaneurodegenerative diseaseclear cell renal carcinoma
✦AI Summary

ZBTB42 is a zinc finger transcriptional repressor that functions as a DNA-binding protein, likely recruiting chr14 remodeling complexes to regulate gene expression 1. The protein is predominantly expressed in skeletal muscle and ovary, with nuclear localization and particular enrichment in nuclei underlying neuromuscular junctions 1. ZBTB42 plays a critical role in skeletal muscle development, as zebrafish zbtb42 knockdown results in grossly abnormal muscle development and myofibrillar disorganization, phenotypes successfully rescued by wild-type human ZBTB42 overexpression 2. Genetically, ZBTB42 variants associate with metabolic syndrome, with polymorphisms modulating transcriptional activity in a cell-type and differentiation-specific manner, demonstrating tissue-specific metabolic effects 3. Clinically, ZBTB42 mutations cause lethal congenital contracture syndrome type 6 (LCCS6), an autosomal recessive form of arthrogryposis multiplex congenita characterized by severe skeletal muscle defects 2. The discovery that pathogenic missense variants fail to rescue the muscle developmental phenotype observed with knockdown suggests ZBTB42 mutations abolish essential muscle developmental functions. These findings establish ZBTB42 as a crucial regulator linking transcriptional control to both normal muscle development and metabolic homeostasis.

Sources cited
1
ZBTB42 is a zinc finger-containing transcriptional regulator expressed in skeletal muscle and ovary, localized to the nucleus with enrichment at neuromuscular junctions; variants associate with metabolic syndrome
PMID: 21193930
2
ZBTB42 mutations cause lethal congenital contracture syndrome type 6; zbtb42 knockdown in zebrafish causes abnormal muscle development and myofibrillar disorganization, rescued by wild-type but not mutant human ZBTB42
PMID: 25055871
3
ZBTB42 polymorphisms modulate transcriptional activity in a cell-type and differentiation-specific manner, with specific variants showing 1.75-fold increased expression in skeletal muscle
PMID: 20872231
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
lethal congenital contracture syndromeOpen Targets
0.46Moderate
prostate carcinomaOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.32Weak
clear cell renal carcinomaOpen Targets
0.30Weak
lethal congenital contracture syndrome 6Open Targets
0.15Weak
alcohol drinkingOpen Targets
0.12Weak
metabolic syndromeOpen Targets
0.11Weak
gliomaOpen Targets
0.07Suggestive
renal carcinomaOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.04Suggestive
glioblastoma multiformeOpen Targets
0.04Suggestive
physical activityOpen Targets
0.03Suggestive
cancerOpen Targets
0.01Suggestive
prostate adenocarcinomaOpen Targets
0.01Suggestive
Invasive Breast CarcinomaOpen Targets
0.01Suggestive
ThymomaOpen Targets
0.01Suggestive
Pallister-Hall syndromeOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
uterine corpus endometrial carcinomaOpen Targets
0.00Suggestive
Insulin resistanceOpen Targets
0.00Suggestive
Lethal congenital contracture syndrome 6UniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
NEBShared pathway100%TAGLNShared pathway50%COL6A3Shared pathway50%FHL3Shared pathway50%SGCBShared pathway50%ITGB1BP2Shared pathway50%
Tissue Expression6 tissues
Liver
100%
Lung
88%
Heart
79%
Ovary
25%
Brain
15%
Bone Marrow
9%
Gene Interaction Network
Click a node to explore
ZBTB42NEBTAGLNCOL6A3FHL3SGCBITGB1BP2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt B2RXF5
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.63LoF Tolerant
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.86 [0.47–1.63]
RankingsWhere ZBTB42 stands among ~20K protein-coding genes
  • #15,740of 20,598
    Most Researched15
  • #15,794of 17,882
    Most Constrained (LOEUF)1.63
Genes detectedZBTB42
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
Characterization of the ZBTB42 gene in humans and mice.
PMID: 21193930
Hum Genet Β· 2011
1.00
2
ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6).
PMID: 25055871
Hum Mol Genet Β· 2014
0.67
3
Functional characterization of a haplotype in the AKT1 gene associated with glucose homeostasis and metabolic syndrome.
PMID: 20872231
Hum Genet Β· 2010
0.33