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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.
AEBP1
AE binding protein 1
Chromosome 7 Β· 7p13
NCBI Gene: 165Ensembl: ENSG00000106624.12HGNC: HGNC:303UniProt: Q8IUX7
55PubMed Papers
21Diseases
0Drugs
46Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
negative regulation of transcription by RNA polymerase IIRNA polymerase II transcription regulatory region sequence-specific DNA bindingGO:0005615regulation of collagen fibril organizationEhlers-Danlos syndrome, classic-like, 2Abnormality of the skeletal systemEhlers-Danlos syndrome type 2Ehlers-Danlos syndrome, classic type, 1
✦AI Summary

AEBP1 (AE binding protein 1) is a transcriptional repressor and key regulator of fibrogenesis across multiple tissues and disease contexts. Functionally, AEBP1 promotes fibroblast and myofibroblast activation, with emerging roles in inflammation and immune dysfunction. In cardiac pathology, AEBP1 is identified as a crucial regulator of cardiac fibrosis in both dilated and ischemic cardiomyopathy 1, and its knockdown promotes cardiac fibroblast activation while overexpression attenuates TGFΞ²-induced activation in hypertrophic cardiomyopathy 2. In cancer, fibroblast-derived AEBP1 drives T cell dysfunction through CKAP4-mediated activation of AKT/PD-L1 signaling, with therapeutic targeting enhancing antitumor immunity 3. AEBP1 also modulates pericyte-myofibroblast transformation in diabetic retinopathy, where AEBP1 knockdown reduces profibrotic markers 4. Beyond fibrosis, AEBP1 functions as a transcriptional regulator in endometriosis and type 2 diabetes, where it impairs insulin signaling through PI3K interaction and represents a therapeutic target 5. AEBP1 serves as a translatable fibrosis-associated gene across diverse organ systems including liver 6. However, AEBP1 exists as two protein isoforms (AEBP1 and ACLP) with potentially distinct functions requiring further clarification 7.

Sources cited
1
AEBP1 identified as crucial cardiac fibrosis regulator in myofibroblasts in dilated and ischemic cardiomyopathy
PMID: 34601654
2
AEBP1 in cancer-associated fibroblasts drives T cell dysfunction via CKAP4-AKT/PD-L1 signaling axis
PMID: 40890191
3
AEBP1 upregulation in myofibroblasts modulates pericyte-myofibroblast transformation in diabetic retinopathy; AEBP1 siRNA reduces profibrotic markers
PMID: 37917183
4
AEBP1 identified as key gene in cardiac fibroblast activation in hypertrophic cardiomyopathy; knockdown promotes activation while overexpression attenuates TGFΞ²-induced activation
PMID: 36646705
5
AEBP1 identified as differential transcription factor with diagnostic value for endometriosis
PMID: 36532015
6
AEBP1 gene encodes two distinct protein isoforms (AEBP1 and ACLP) with potentially different functions in inflammation and fibrosis
PMID: 40294683
7
AEBP1 is causally associated with type 2 diabetes and skeletal muscle insulin resistance; interacts with PI3K to impair insulin signaling
PMID: 40618921
8
AEBP1 identified as liver fibrosis-associated gene serving as potential drug target candidate for NASH
PMID: 34588551
Disease Associationsβ“˜21
Ehlers-Danlos syndrome, classic-like, 2Open Targets
0.71Strong
Abnormality of the skeletal systemOpen Targets
0.41Moderate
Ehlers-Danlos syndrome type 2Open Targets
0.37Weak
Ehlers-Danlos syndrome, classic type, 1Open Targets
0.34Weak
autism spectrum disorderOpen Targets
0.27Weak
carpal tunnel syndromeOpen Targets
0.24Weak
Ehlers-Danlos syndrome due to tenascin-X deficiencyOpen Targets
0.19Weak
genetic disorderOpen Targets
0.17Weak
glioblastoma multiformeOpen Targets
0.11Weak
Ehlers-Danlos syndrome, classic type, 2Open Targets
0.11Weak
myopiaOpen Targets
0.11Weak
pathological myopiaOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
gliomaOpen Targets
0.10Suggestive
cancerOpen Targets
0.09Suggestive
gastric cancerOpen Targets
0.09Suggestive
oral squamous cell carcinomaOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
non-alcoholic steatohepatitisOpen Targets
0.08Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.08Suggestive
Ehlers-Danlos syndrome, classic-like, 2UniProt
Pathogenic Variants46
NM_001129.5(AEBP1):c.1783C>T (p.Arg595Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 595
NM_001129.5(AEBP1):c.1018+1G>ALikely pathogenic
not provided|AEBP1-related disorder|Ehlers-Danlos syndrome, classic-like, 2
β˜…β˜…β˜†β˜†2025
NM_001129.5(AEBP1):c.1630+2T>APathogenic
not provided|Ehlers-Danlos syndrome, classic-like, 2
β˜…β˜…β˜†β˜†2025
NM_001129.5(AEBP1):c.1630+1G>APathogenic
Ehlers-Danlos syndrome, classic-like, 2|not provided
β˜…β˜…β˜†β˜†2025
NM_001129.5(AEBP1):c.2604C>A (p.Cys868Ter)Likely pathogenic
Autism spectrum disorder|Ehlers-Danlos syndrome, classic-like, 2
β˜…β˜…β˜†β˜†2025β†’ Residue 868
NM_001129.5(AEBP1):c.730dup (p.Tyr244fs)Pathogenic
Ehlers-Danlos syndrome, classic-like, 2|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 244
NM_001129.5(AEBP1):c.2341C>T (p.Gln781Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 781
NM_001129.5(AEBP1):c.1284C>A (p.Tyr428Ter)Pathogenic
not provided|Ehlers-Danlos syndrome, classic-like, 2
β˜…β˜…β˜†β˜†2024β†’ Residue 428
NM_001129.5(AEBP1):c.655del (p.Glu219fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 219
NM_001129.5(AEBP1):c.1743C>A (p.Cys581Ter)Pathogenic
Ehlers-Danlos syndrome, classic-like, 2|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 581
NM_001129.5(AEBP1):c.1320_1326del (p.Arg440fs)Pathogenic
Ehlers-Danlos syndrome, classic-like, 2|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 440
NM_001129.5(AEBP1):c.996_999del (p.Asp333fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 333
NM_001129.5(AEBP1):c.148dup (p.Arg50fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 50
NM_001129.5(AEBP1):c.1161dup (p.Ile388fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 388
NM_001129.5(AEBP1):c.941-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001129.5(AEBP1):c.561dup (p.Ser188fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 188
NM_001129.5(AEBP1):c.899_900del (p.Pro300fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 300
NM_001129.5(AEBP1):c.1019-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001129.5(AEBP1):c.2683G>T (p.Glu895Ter)Likely pathogenic
Ehlers-Danlos syndrome, classic-like, 2
β˜…β˜†β˜†β˜†2025β†’ Residue 895
NM_001129.5(AEBP1):c.2174dup (p.Asn725fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 725
View on ClinVar β†—
Related Genes
CPZShared pathway100%CPDShared pathway100%CPMShared pathway75%TMPRSS11FShared pathway67%PRSS41Shared pathway67%PRSS51Shared pathway67%
Tissue Expression6 tissues
Ovary
100%
Lung
46%
Heart
36%
Liver
10%
Bone Marrow
6%
Brain
6%
Gene Interaction Network
Click a node to explore
AEBP1CPZCPDCPMTMPRSS11FPRSS41PRSS51
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8IUX7
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.73LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.60 [0.49–0.73]
RankingsWhere AEBP1 stands among ~20K protein-coding genes
  • #8,164of 20,598
    Most Researched55
  • #1,408of 5,498
    Most Pathogenic Variants46
  • #5,744of 17,882
    Most Constrained (LOEUF)0.73
Genes detectedAEBP1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Resolving the intertwining of inflammation and fibrosis in human heart failure at single-cell level.
PMID: 34601654
Basic Res Cardiol Β· 2021
1.00
2
AEBP1 drives fibroblast-mediated T cell dysfunction in tumors.
PMID: 40890191
Nat Commun Β· 2025
0.90
3
Single-cell transcriptomics analysis of proliferative diabetic retinopathy fibrovascular membranes reveals AEBP1 as fibrogenesis modulator.
PMID: 37917183
JCI Insight Β· 2023
0.80
4
Lineage-specific regulatory changes in hypertrophic cardiomyopathy unraveled by single-nucleus RNA-seq and spatial transcriptomics.
PMID: 36646705
Cell Discov Β· 2023
0.70
5
Gene expression analysis in endometriosis: Immunopathology insights, transcription factors and therapeutic targets.
PMID: 36532015
Front Immunol Β· 2022
0.60