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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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EFS
embryonal Fyn-associated substrate
Chromosome 14 · 14q11.2
NCBI Gene: 10278Ensembl: ENSG00000100842.14HGNC: HGNC:16898UniProt: O43281
30PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein domain specific bindingprotein bindingplasma membranecell migrationneurodegenerative diseaseisolated agammaglobulinemiaAutosomal recessive early-onset inflammatory bowel diseasehyper-IgE recurrent infection syndrome 5, autosomal recessive
✦AI Summary

EFS (embryonal Fyn-associated substrate) is a docking protein that serves as a central coordinator in tyrosine-kinase-based signaling related to cell adhesion. As a member of the CAS (Crk-associated substrate) adaptor protein family, EFS lacks enzymatic activity but contains specific recognition and binding sites for assembly of signaling complexes essential for cell proliferation, survival, and migration 1. EFS interacts with the SH3 domain of FYN and associates with SRC family kinases at focal adhesions, where it functions as an intermediate in integrin-dependent signaling pathways that activate downstream effectors regulating the actin cytoskeleton 1. The protein localizes to focal adhesions and the plasma membrane, participating in cell surface receptor protein tyrosine kinase signaling and intracellular signal transduction. While EFS and its family member CASS4 have been less extensively studied than other CAS proteins, recent evidence implicates EFS in immune system function and the pathogenesis of various diseases including developmental disorders, autoimmune conditions such as Crohn's disease, Alzheimer's disease, and cancer 1. Structure-function analyses indicate EFS conserves many functional elements with better-characterized CAS family members, suggesting it plays important but incompletely understood roles in cellular signaling and disease pathogenesis.

Sources cited
1
EFS is a CAS family adaptor protein that coordinates signaling complexes for cell proliferation, survival, and migration; associates with FAK and SRC kinases at focal adhesions; and is implicated in immune function and disease pathogenesis including cancer and autoimmune disorders
PMID: 26119091
⚠Limited data available — This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
isolated agammaglobulinemiaOpen Targets
0.07Suggestive
Autosomal recessive early-onset inflammatory bowel diseaseOpen Targets
0.06Suggestive
hyper-IgE recurrent infection syndrome 5, autosomal recessiveOpen Targets
0.06Suggestive
MHC class II deficiency 5Open Targets
0.06Suggestive
immunodeficiency 89 and autoimmunityOpen Targets
0.06Suggestive
Chronic mucocutaneous candidosisOpen Targets
0.06Suggestive
autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiencyOpen Targets
0.06Suggestive
immunodeficiency, common variable, 14Open Targets
0.06Suggestive
X-linked agammaglobulinemiaOpen Targets
0.06Suggestive
hyper-IgM syndrome type 5Open Targets
0.06Suggestive
hyper-IgM syndrome type 2Open Targets
0.06Suggestive
X-linked lymphoproliferative diseaseOpen Targets
0.06Suggestive
atopic eczemaOpen Targets
0.06Suggestive
IgE responsiveness, atopicOpen Targets
0.06Suggestive
autoimmune lymphoproliferative syndrome type 2BOpen Targets
0.06Suggestive
Autoimmune lymphoproliferative syndrome with recurrent viral infectionsOpen Targets
0.06Suggestive
immunodeficiency, common variable, 15Open Targets
0.06Suggestive
immunodeficiency 11b with atopic dermatitisOpen Targets
0.06Suggestive
autoimmune diseaseOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FYNProtein interaction83%CSE1LProtein interaction77%CASP3Protein interaction74%BCL2Protein interaction72%CRKProtein interaction71%SHC4Shared pathway67%
Tissue Expression6 tissues
Ovary
100%
Brain
53%
Heart
16%
Lung
15%
Liver
4%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
EFSFYNCSE1LCASP3BCL2CRKSHC4
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt O43281
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.17LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.88 [0.67–1.17]
RankingsWhere EFS stands among ~20K protein-coding genes
  • #11,907of 20,598
    Most Researched30
  • #12,182of 17,882
    Most Constrained (LOEUF)1.17
Genes detectedEFS
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Executive functions.
PMID: 31590731
Handb Clin Neurol · 2019
1.00
2
Pathologic Complete Response and Individual Patient Prognosis After Neoadjuvant Chemotherapy Plus Anti-Human Epidermal Growth Factor Receptor 2 Therapy of Human Epidermal Growth Factor Receptor 2-Positive Early Breast Cancer.
PMID: 37075276
J Clin Oncol · 2023
0.90
3
Outcome in neuroblastoma.
PMID: 25274444
Indian J Pediatr · 2015
0.80
4
Embryonal Fyn-associated substrate (EFS) and CASS4: The lesser-known CAS protein family members.
PMID: 26119091
Gene · 2015
0.70
5
Comprehensive analysis of MYB/MYBL1-altered pediatric-type diffuse low-grade glioma.
PMID: 38466086
Neuro Oncol · 2024
0.60