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GeneE
27 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TGFBI
transforming growth factor beta induced
Chromosome 5 Β· 5q31.1
NCBI Gene: 7045Ensembl: ENSG00000120708.17HGNC: HGNC:11771UniProt: A0A0S2Z4Q2
322PubMed Papers
27Diseases
0Drugs
20Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingextracellular exosomeangiogenesistrans-Golgi networklattice corneal dystrophy type IReis-Bucklers corneal dystrophyReis-BΓΌcklers corneal dystrophygranular corneal dystrophy type I
✦AI Summary

TGFBI (transforming growth factor beta induced) encodes an extracellular matrix glycoprotein that plays critical roles in cell adhesion, tissue homeostasis, and disease pathogenesis 1. The protein functions primarily as a secreted factor that mediates cell-matrix interactions and regulates cellular behavior through integrin binding 2. In cancer contexts, TGFBI is predominantly produced by tumor-associated macrophages (TAMs), particularly M2-polarized macrophages, where it promotes immunosuppression and tumor progression 32. The protein maintains glioma stem cells through integrin Ξ±vΞ²5-Src-Stat3 signaling and stabilizes EphA2 under hypoxic conditions 24. TGFBI also facilitates macrophage polarization toward the M2 phenotype and enhances tumor growth in pancreatic cancer 5. Beyond oncology, TGFBI contributes to tissue repair by promoting epidermal stem cell growth and wound healing 6. Clinically, TGFBI mutations are associated with various corneal dystrophies, and elevated plasma levels serve as biomarkers for liver disease and glioblastoma 72. The protein's diverse roles in extracellular matrix organization, immune modulation, and stem cell maintenance make it a significant therapeutic target across multiple diseases.

Sources cited
1
TGFBI plays a role in cell adhesion
PMID: 8024701
2
TGFBI is secreted by M2-like TAMs and promotes GSCs through integrin Ξ±vΞ²5-Src-Stat3 signaling
PMID: 35673564
3
TGFBI is produced by CD163-positive macrophages and contributes to immunosuppressive microenvironment
PMID: 34561272
4
TGFBI maintains glioma stem cells by stabilizing EphA2 under hypoxic conditions
PMID: 39346536
5
TGFBI promotes macrophage polarization to M2 phenotype and pancreatic cancer growth
PMID: 37865162
6
TGFBI enhances epidermal stem cell growth and promotes wound healing
PMID: 35817779
7
Elevated plasma TGFBI serves as biomarker for liver disease
PMID: 30824564
8
TGFBI mutations are associated with corneal dystrophies
PMID: 33946315
Disease Associationsβ“˜27
lattice corneal dystrophy type IOpen Targets
0.82Strong
Reis-Bucklers corneal dystrophyOpen Targets
0.73Strong
Reis-BΓΌcklers corneal dystrophyOpen Targets
0.73Strong
granular corneal dystrophy type IOpen Targets
0.72Strong
granular corneal dystrophy type IIOpen Targets
0.72Strong
epithelial basement membrane dystrophyOpen Targets
0.71Strong
Microcystic corneal dystrophyOpen Targets
0.71Strong
Thiel-Behnke corneal dystrophyOpen Targets
0.70Moderate
epithelial-stromal TGFBI dystrophyOpen Targets
0.47Moderate
AL amyloidosisOpen Targets
0.46Moderate
genetic disorderOpen Targets
0.42Moderate
corneal dystrophyOpen Targets
0.35Weak
glomerulonephritisOpen Targets
0.32Weak
Varicose veinsOpen Targets
0.31Weak
benign prostatic hyperplasiaOpen Targets
0.31Weak
lymphatic system diseaseOpen Targets
0.30Weak
vein disorderOpen Targets
0.30Weak
Granular corneal dystrophyOpen Targets
0.26Weak
glioblastoma multiformeOpen Targets
0.12Weak
neoplasmOpen Targets
0.12Weak
Corneal dystrophy, Avellino typeUniProt
Corneal dystrophy, epithelial basement membraneUniProt
Corneal dystrophy, Groenouw type 1UniProt
Corneal dystrophy, lattice type 1UniProt
Corneal dystrophy, lattice type 3AUniProt
Corneal dystrophy, Reis-Bucklers typeUniProt
Corneal dystrophy, Thiel-Behnke typeUniProt
Pathogenic Variants20
NM_000358.3(TGFBI):c.371G>T (p.Arg124Leu)Pathogenic
Reis-Bucklers' corneal dystrophy|Avellino corneal dystrophy|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 124
NM_000358.3(TGFBI):c.1663C>T (p.Arg555Trp)Pathogenic
Groenouw corneal dystrophy type I|7 conditions|Lattice corneal dystrophy Type I|not provided|Corneal dystrophy
β˜…β˜…β˜†β˜†2025β†’ Residue 555
NM_000358.3(TGFBI):c.371G>A (p.Arg124His)Pathogenic
Avellino corneal dystrophy|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 124
NM_000358.3(TGFBI):c.1877A>G (p.His626Arg)Pathogenic
not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 626
NM_000358.3(TGFBI):c.1664G>A (p.Arg555Gln)Pathogenic
Thiel-Behnke corneal dystrophy|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 555
NM_000358.3(TGFBI):c.370C>T (p.Arg124Cys)Pathogenic
Lattice corneal dystrophy Type I|Epithelial-stromal TGFBI dystrophy|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 124
NM_000358.3(TGFBI):c.1856T>A (p.Met619Lys)Pathogenic
not provided|Epithelial basement membrane dystrophy
β˜…β˜…β˜†β˜†2024β†’ Residue 619
NM_000358.3(TGFBI):c.1501C>A (p.Pro501Thr)Pathogenic
Corneal dystrophy, lattice type 3A|Corneal dystrophy|not provided|not specified|7 conditions
β˜…β˜…β˜†β˜†2021β†’ Residue 501
NM_000358.3(TGFBI):c.1877A>C (p.His626Pro)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 626
NM_000358.3(TGFBI):c.1640T>G (p.Phe547Cys)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 547
NM_000358.3(TGFBI):c.1517_1518insCAAGGG (p.Met506delinsIleLysGly)Likely pathogenic
Reis-Bucklers' corneal dystrophy
β˜…β˜†β˜†β˜†2022β†’ Residue 506
NM_000358.3(TGFBI):c.1855A>G (p.Met619Val)Likely pathogenic
Groenouw corneal dystrophy type I
β˜…β˜†β˜†β˜†2022β†’ Residue 619
NM_000358.3(TGFBI):c.1864A>C (p.Asn622His)Likely pathogenic
Epithelial-stromal TGFBI dystrophy
β˜…β˜†β˜†β˜†2021β†’ Residue 622
NM_000358.3(TGFBI):c.1612A>C (p.Thr538Pro)Likely pathogenic
Epithelial-stromal TGFBI dystrophy
β˜…β˜†β˜†β˜†2021β†’ Residue 538
NM_000358.3(TGFBI):c.370C>A (p.Arg124Ser)Pathogenic
Groenouw corneal dystrophy type I|Epithelial-stromal TGFBI dystrophy
β˜…β˜†β˜†β˜†2021β†’ Residue 124
NM_000358.3(TGFBI):c.1772C>A (p.Ser591Tyr)Likely pathogenic
Thiel-Behnke corneal dystrophy
β˜…β˜†β˜†β˜†β†’ Residue 591
NM_000358.3(TGFBI):c.1526T>G (p.Leu509Arg)Pathogenic
Epithelial basement membrane dystrophy
β˜†β˜†β˜†β˜†2006β†’ Residue 509
NM_000358.3(TGFBI):c.1868G>A (p.Gly623Asp)Pathogenic
Reis-Bucklers' corneal dystrophy
β˜†β˜†β˜†β˜†2005β†’ Residue 623
NM_000358.3(TGFBI):c.1619T>C (p.Phe540Ser)Pathogenic
Corneal dystrophy, lattice type 3A
β˜†β˜†β˜†β˜†2005β†’ Residue 540
NM_000358.3(TGFBI):c.1618_1620del (p.Phe540del)Pathogenic
Reis-Bucklers' corneal dystrophy
β˜†β˜†β˜†β˜†1998β†’ Residue 540
View on ClinVar β†—
Related Genes
ITGB3Protein interaction93%COL1A2Protein interaction93%COL1A1Protein interaction92%TGIF2Protein interaction89%TGIF2LYProtein interaction85%TGIF2LXProtein interaction85%
Tissue Expression6 tissues
Lung
100%
Liver
63%
Heart
60%
Ovary
14%
Bone Marrow
12%
Brain
8%
Gene Interaction Network
Click a node to explore
TGFBIITGB3COL1A2COL1A1TGIF2TGIF2LYTGIF2LX
PROTEIN STRUCTURE
Preparing viewer…
PDB7ASG Β· 2.00 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.86LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.68 [0.54–0.86]
RankingsWhere TGFBI stands among ~20K protein-coding genes
  • #1,033of 20,598
    Most Researched322 Β· top 10%
  • #2,177of 5,498
    Most Pathogenic Variants20
  • #7,459of 17,882
    Most Constrained (LOEUF)0.86
Genes detectedTGFBI
Sources retrieved27 papers
Response timeβ€”
πŸ“„ Sources
27β–Ό
1
Hypoxia-induced TGFBI maintains glioma stem cells by stabilizing EphA2.
PMID: 39346536
Theranostics Β· 2024
1.00
2
TGFBI Production by Macrophages Contributes to an Immunosuppressive Microenvironment in Ovarian Cancer.
PMID: 34561272
Cancer Res Β· 2021
0.90
3
Plasma proteome profiling discovers novel proteins associated with non-alcoholic fatty liver disease.
PMID: 30824564
Mol Syst Biol Β· 2019
0.80
4
PMID: 32310559
0.80
5
Hub gene target of glioblastoma: LOX, SERPINH1 and TGFBI.
PMID: 36397358
Medicine (Baltimore) Β· 2022
0.76