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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SS18L1
SS18L1 subunit of BAF chromatin remodeling complex
Chromosome 20 · 20q13.33
NCBI Gene: 26039Ensembl: ENSG00000184402.15HGNC: HGNC:15592UniProt: B4DSR7
55PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingkinetochorecytosolnucleoplasmamyotrophic lateral sclerosisneurodegenerative diseaseinjurymelanoma
✦AI Summary

SS18L1 is a transcriptional coactivator and component of the BAF chr20 remodeling complex that plays critical roles in neuronal development and gene regulation. As a paralog of SS18 1, SS18L1 functions in calcium-dependent transcriptional activation through the CREST-BRG1 complex, which orchestrates the release of repressor complexes and recruitment of coactivators like CREBBP in response to neuronal activity 2. SS18L1 is essential for activity-dependent dendritic growth and branching in cortical neurons, and mutations in SS18L1 have been associated with amyotrophic lateral sclerosis (ALS), including variants that impair dendritic outgrowth 2. Beyond neurology, SS18L1 can serve as an alternative fusion partner in malignancies: it has been identified in rare synovial sarcoma cases with SS18L1-SSX1 fusions, which retain diagnostic and clinical characteristics similar to canonical SS18-SSX tumors 345. Additionally, a novel MEF2C::SS18L1 fusion was identified in childhood acute B-lymphoblastic leukemia with high predicted oncogenic potential 6. SS18L1 involvement in chr20 remodeling also implicates it in broader cognitive function, with evidence suggesting its role in epigenetic regulation relevant to cognitive abilities 7.

Sources cited
1
SS18L1 is a paralog of SS18 that shares the SNH domain and evolved through genomic duplication in vertebrates
PMID: 16484776
2
SS18L1 mutations (Q388stop and others) cause ALS and impair activity-dependent dendritic outgrowth in neurons
PMID: 24360741
3
SS18L1-SSX1 fusion identified in synovial sarcoma with diagnostic and clinical characteristics similar to canonical fusions
PMID: 34504309
4
Novel SS18L1/SSX1 fusion transcript identified in synovial sarcoma, demonstrating genetic heterogeneity in this cancer type
PMID: 12696068
5
SS18L1-SSX1 fusion in poorly differentiated synovial sarcoma with BCOR upregulation
PMID: 27914109
6
MEF2C::SS18L1 fusion identified in childhood acute B-ALL with high oncogenic probability and shared structural domains with MEF2D::SS18
PMID: 38907739
7
SS18L1 involved in chromatin remodeling and associated with cognitive abilities and psychiatric disease risk
PMID: 33659785
Disease Associationsⓘ20
amyotrophic lateral sclerosisOpen Targets
0.41Moderate
neurodegenerative diseaseOpen Targets
0.25Weak
injuryOpen Targets
0.25Weak
melanomaOpen Targets
0.19Weak
head and neck squamous cell carcinomaOpen Targets
0.19Weak
hepatocellular carcinomaOpen Targets
0.19Weak
acute myeloid leukemiaOpen Targets
0.18Weak
bile duct carcinomaOpen Targets
0.18Weak
bladder transitional cell carcinomaOpen Targets
0.18Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.18Weak
clear cell renal carcinomaOpen Targets
0.18Weak
colon adenocarcinomaOpen Targets
0.18Weak
colorectal adenocarcinomaOpen Targets
0.18Weak
Duodenal AdenocarcinomaOpen Targets
0.18Weak
Hepatobiliary NeoplasmOpen Targets
0.18Weak
lung carcinomaOpen Targets
0.18Weak
nodular melanomaOpen Targets
0.18Weak
rectal adenocarcinomaOpen Targets
0.18Weak
small cell lung carcinomaOpen Targets
0.18Weak
Uterine CarcinosarcomaOpen Targets
0.18Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CUX1Shared pathway100%PHF10Protein interaction99%SMARCB1Protein interaction99%SMARCA2Protein interaction98%SMARCA4Protein interaction98%ARID1BProtein interaction96%
Tissue Expression6 tissues
Liver
100%
Brain
69%
Ovary
32%
Lung
26%
Heart
20%
Bone Marrow
20%
Gene Interaction Network
Click a node to explore
SS18L1CUX1PHF10SMARCB1SMARCA2SMARCA4ARID1B
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt O75177
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.60LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.45 [0.34–0.60]
RankingsWhere SS18L1 stands among ~20K protein-coding genes
  • #8,254of 20,598
    Most Researched55
  • #4,178of 17,882
    Most Constrained (LOEUF)0.60 · top quartile
Genes detectedSS18L1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Common origin of the human synovial sarcoma associated SS18 and SS18L1 gene loci.
PMID: 16484776
Cytogenet Genome Res · 2006
1.00
2
Identification of novel SSX1 fusions in synovial sarcoma.
PMID: 34504309
Mod Pathol · 2022
0.90
3
Longitudinal genetic studies of cognitive characteristics.
PMID: 33659785
Vavilovskii Zhurnal Genet Selektsii · 2020
0.80
4
Identification of a novel MEF2C::SS18L1 fusion in childhood acute B-lymphoblastic leukemia.
PMID: 38907739
J Cancer Res Clin Oncol · 2024
0.70
5
A novel fusion gene, SS18L1/SSX1, in synovial sarcoma.
PMID: 12696068
Genes Chromosomes Cancer · 2003
0.60