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GeneE
10 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.
GON4L
gon-4 like
Chromosome 1 Β· 1q22
NCBI Gene: 54856Ensembl: ENSG00000116580.21HGNC: HGNC:25973UniProt: A4PB67
49PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleoplasmnuclear bodynucleustranscription coregulator activityneurodegenerative diseasecomplex neurodevelopmental disorderAbnormality of the skeletal systematrial fibrillation
✦AI Summary

GON4L (gon-4 like) is a nuclear transcription regulator with dual roles in histone gene expression and transcriptional repression. As a primary function, GON4L acts as a key transcriptional activator of histone genes. It cooperates with CRAMP1 to selectively promote linker histone H1 gene expression by occupying H1 promoters at the histone locus body and replication-independent loci 12. GON4L mechanistically functions through protein-protein interactions: it associates with CRAMP1 via its PAH domains to activate H1 transcription 1, and forms a repressor complex with YY1, SIN3A, and HDAC1 to mediate transcriptional repression 3. In cancer contexts, GON4L promotes tumor growth by facilitating YY1 interaction with androgen receptor to drive CD24 expression across multiple cancer types 4. Disease relevance includes Li-Takada-Miyake syndrome, where biallelic GON4L loss-of-function variants cause microcephaly, craniofacial abnormalities, and situs inversus, indicating essential roles in neurodevelopment and left-right patterning 5. GON4L is also implicated in lung cancer predisposition 6 and melanoma through NTRK1 fusion events 7. Clinically, GON4L expression levels may serve as biomarkers for cancer prognosis and represent therapeutic targets in malignancies.

Sources cited
1
CRAMP1 physically associates with GON4L at the histone locus body; CRAMP1 occupies H1 gene promoters and is required for histone H1 expression
PMID: 39829857
2
CRAMP1 interacts with GON4L via PAH domains; CRAMP1 disruption reduces H1 mRNA and protein levels
PMID: 41663757
3
GON4L associates with YY1, SIN3A, and HDAC1 in a repressor complex; requires a conserved central domain for complex formation
PMID: 21454521
4
GON4L drives cancer growth through YY1-androgen receptor-CD24 axis; GON4L depletion blocks proliferation and tumor growth; elevated in bladder, lung, prostate, and breast cancers
PMID: 27312530
5
Biallelic GON4L loss-of-function variants cause microcephaly, craniofacial abnormalities, situs inversus, and developmental delay; gon4l knockdown impairs neurite outgrowth
PMID: 39500882
6
GON4L truncating mutations identified in early-onset lung adenocarcinoma in non-smokers
PMID: 24954872
7
GON4L identified as NTRK1 fusion partner in metastatic melanoma
PMID: 29683819
8
GON4L is functionally interacting gene associated with NMD efficiency through chromosome 1q gains in tumors
PMID: 41023738
Disease Associationsβ“˜21
neurodegenerative diseaseOpen Targets
0.53Moderate
complex neurodevelopmental disorderOpen Targets
0.37Weak
Abnormality of the skeletal systemOpen Targets
0.32Weak
atrial fibrillationOpen Targets
0.30Weak
gastric carcinomaOpen Targets
0.23Weak
nervous system diseaseOpen Targets
0.23Weak
goutOpen Targets
0.12Weak
ependymomaOpen Targets
0.11Weak
gastric ulcerOpen Targets
0.09Suggestive
stomach polypOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
COVID-19Open Targets
0.07Suggestive
gastrointestinal diseaseOpen Targets
0.07Suggestive
isolated agammaglobulinemiaOpen Targets
0.06Suggestive
hemorrhageOpen Targets
0.06Suggestive
activated PI3K-delta syndromeOpen Targets
0.06Suggestive
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveOpen Targets
0.05Suggestive
T-B+ severe combined immunodeficiency due to JAK3 deficiencyOpen Targets
0.05Suggestive
immunodeficiency 105Open Targets
0.05Suggestive
hypertrophic cardiomyopathyOpen Targets
0.05Suggestive
Li-Takada-Miyake syndromeUniProt
Pathogenic Variants2
NM_001282860.2(GON4L):c.62_63del (p.Gln21fs)Pathogenic
Li-Takada-Miyake syndrome
β˜†β˜†β˜†β˜†2025β†’ Residue 21
NM_001282860.2(GON4L):c.5517+1G>APathogenic
Li-Takada-Miyake syndrome
β˜†β˜†β˜†β˜†2025
View on ClinVar β†—
Related Genes
ASH1LProtein interaction96%GIGYF2Protein interaction79%CRAMP1Protein interaction70%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
90%
Ovary
78%
Brain
64%
Liver
61%
Heart
60%
Gene Interaction Network
Click a node to explore
GON4LASH1LGIGYF2CRAMP1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q14BN2
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.49Moderately Constrained
pLIβ“˜
0.65Intermediate
Observed/Expected LoF0.40 [0.33–0.49]
RankingsWhere GON4L stands among ~20K protein-coding genes
  • #8,946of 20,598
    Most Researched49
  • #4,438of 5,498
    Most Pathogenic Variants2
  • #2,891of 17,882
    Most Constrained (LOEUF)0.49 Β· top quartile
Genes detectedGON4L
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Distinct Control of histone H1 expression within the Histone Locus body by CRAMP1.
PMID: 39829857
bioRxiv Β· 2025
1.00
2
The developmental regulator protein Gon4l associates with protein YY1, co-repressor Sin3a, and histone deacetylase 1 and mediates transcriptional repression.
PMID: 21454521
J Biol Chem Β· 2011
0.90
3
GON4L Drives Cancer Growth through a YY1-Androgen Receptor-CD24 Axis.
PMID: 27312530
Cancer Res Β· 2016
0.80
4
Oligogenic germline mutations identified in early non-smokers lung adenocarcinoma patients.
PMID: 24954872
Lung Cancer Β· 2014
0.70
5
Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities.
PMID: 39500882
NPJ Genom Med Β· 2024
0.60