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5 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SSBP4
single stranded DNA binding protein 4
Chromosome 19 · 19p13.11
NCBI Gene: 170463Ensembl: ENSG00000130511.17HGNC: HGNC:15676UniProt: Q9BWG4
33PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingtranscription coactivator activitypositive regulation of transcription by RNA polymerase IInucleussystemic lupus erythematosusbreast carcinomaessential tremorsubstance-related disorder
✦AI Summary

SSBP4 is a single-stranded DNA-binding protein that functions as a key component of the architectural LDB1 complex, which mediates chr19 looping and transcriptional regulation 1. SSBP4 belongs to an evolutionarily conserved gene family with putative sequence-specific single-stranded DNA-binding activity 2. Structurally, SSBP4 contains a conserved N-terminal LUFS domain that mediates protein-protein interactions; related family members form tetramers through this domain, suggesting SSBP4 likely possesses similar oligomerization capacity 3. While SSBP3 is the functionally essential SSBP family member for erythroid cell viability and LDB1-dependent chr19 looping 1, SSBP4 colocalizes with LDB1 genome-wide and contributes to the architectural complex's function. Genetically, rs7257932 in SSBP4 is a functional variant associated with breast cancer susceptibility that modulates promoter activity 4. Additionally, CpG sites near SSBP4 show epigenome-wide significant associations with maternal prenatal stress and cortisol levels in neonatal saliva, suggesting potential involvement in stress-responsive developmental programming 5. The gene maps to chromosome 19.1 2.

Sources cited
1
SSBP4 colocalizes with LDB1 genome-wide and functions as a component of the architectural LDB1 complex regulating chromatin looping and transcription
PMID: 40803327
2
SSBP4 shares a conserved LUFS domain with SSBP2/SSBP3 that mediates oligomerization and protein-protein interactions
PMID: 30676665
3
SSBP4 is an evolutionarily conserved family member with putative sequence-specific single-stranded DNA-binding activity; maps to chromosome 19p13.1
PMID: 12079286
4
rs7257932 in SSBP4 is a functional breast cancer susceptibility variant that significantly alters promoter activity
PMID: 29727689
5
CpG sites near SSBP4 show epigenome-wide significant associations with maternal prenatal stress measures and cortisol levels in neonatal saliva
PMID: 35836289
Disease Associationsⓘ20
systemic lupus erythematosusOpen Targets
0.08Suggestive
breast carcinomaOpen Targets
0.06Suggestive
essential tremorOpen Targets
0.05Suggestive
substance-related disorderOpen Targets
0.04Suggestive
breast cancerOpen Targets
0.04Suggestive
luminal A breast carcinomaOpen Targets
0.03Suggestive
psoriasisOpen Targets
0.03Suggestive
attention deficit hyperactivity disorderOpen Targets
0.02Suggestive
substance abuseOpen Targets
0.02Suggestive
lymphatic system diseaseOpen Targets
0.02Suggestive
Crohn's diseaseOpen Targets
0.02Suggestive
tuberculosisOpen Targets
0.01Suggestive
metastatic neoplasmOpen Targets
0.01Suggestive
dilated cardiomyopathyOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
pancreatic adenocarcinomaOpen Targets
0.00Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
clear cell renal carcinomaOpen Targets
0.00Suggestive
Uterine CarcinosarcomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ISL1Protein interaction87%LDB1Protein interaction87%LHX4Protein interaction87%LHX1Protein interaction86%LMO4Protein interaction85%IDI2Protein interaction84%
Tissue Expression6 tissues
Ovary
100%
Lung
70%
Liver
46%
Bone Marrow
28%
Brain
26%
Heart
17%
Gene Interaction Network
Click a node to explore
SSBP4ISL1LDB1LHX4LHX1LMO4IDI2
PROTEIN STRUCTURE
Preparing viewer…
PDB7OBX · 1.80 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.72LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.52 [0.39–0.72]
RankingsWhere SSBP4 stands among ~20K protein-coding genes
  • #11,427of 20,598
    Most Researched33
  • #5,595of 17,882
    Most Constrained (LOEUF)0.72
Genes detectedSSBP4
Sources retrieved5 papers
Response time—
📄 Sources
5
1
Single-stranded DNA-binding proteins are essential components of the architectural LDB1 protein complex.
PMID: 40803327
Mol Cell · 2025
1.00
2
Crystal structure of the LUFS domain of human single-stranded DNA binding Protein 2 (SSBP2).
PMID: 30676665
Protein Sci · 2019
0.80
3
Maternal-fetal stress and DNA methylation signatures in neonatal saliva: an epigenome-wide association study.
PMID: 35836289
Clin Epigenetics · 2022
0.60
4
A Comprehensive cis-eQTL Analysis Revealed Target Genes in Breast Cancer Susceptibility Loci Identified in Genome-wide Association Studies.
PMID: 29727689
Am J Hum Genet · 2018
0.40
5
A novel, evolutionarily conserved gene family with putative sequence-specific single-stranded DNA-binding activity.
PMID: 12079286
Genomics · 2002
0.20