TGFBI Gene (Protein Coding)

Transforming Growth Factor Beta Induced

GC05P136027
GIFtS:
46
This gene encodes an RGD-containing protein that binds to type I, II and IV collagens. The RGD motif is found in many extracellular matrix proteins modulating cell adhesion and serves as a ligand recognition sequence for several integrins. This protein plays a role in cell-collagen interactions and may be involved in endochondrial bone formation in cartilage. The protein is ind... See more...

Aliases for TGFBI Gene

Aliases for TGFBI Gene

  • Transforming Growth Factor Beta Induced 2 3 5
  • BIGH3 2 3 4
  • Transforming Growth Factor-Beta-Induced Protein Ig-H3 3 4
  • Transforming Growth Factor, Beta-Induced, 68kD 2 3
  • RGD-Containing Collagen-Associated Protein 3 4
  • Kerato-Epithelin 3 4
  • Beta Ig-H3 3 4
  • RGD-CAP 3 4
  • CDGG1 2 3
  • CDB1 2 3
  • Transforming Growth Factor, Beta-Induced, 68kDa 2
  • Transforming Growth Factor Beta-Induced 68kDa 3
  • Betaig-H3 3
  • TGFBI 5
  • CDG2 3
  • CSD1 3
  • CSD2 3
  • CSD3 3
  • EBMD 3
  • LCD1 3
  • CSD 3

External Ids for TGFBI Gene

Previous HGNC Symbols for TGFBI Gene

  • CSD3
  • LCD1
  • CSD1
  • CSD2

Previous GeneCards Identifiers for TGFBI Gene

  • GC05P135240
  • GC05P135395
  • GC05P135440
  • GC05P135392
  • GC05P130553
  • GC05P135364

Summaries for TGFBI Gene

Entrez Gene Summary for TGFBI Gene

  • This gene encodes an RGD-containing protein that binds to type I, II and IV collagens. The RGD motif is found in many extracellular matrix proteins modulating cell adhesion and serves as a ligand recognition sequence for several integrins. This protein plays a role in cell-collagen interactions and may be involved in endochondrial bone formation in cartilage. The protein is induced by transforming growth factor-beta and acts to inhibit cell adhesion. Mutations in this gene are associated with multiple types of corneal dystrophy. [provided by RefSeq, Jul 2008]

GeneCards Summary for TGFBI Gene

TGFBI (Transforming Growth Factor Beta Induced) is a Protein Coding gene. Diseases associated with TGFBI include Corneal Dystrophy, Thiel-Behnke Type and Corneal Dystrophy, Avellino Type. Among its related pathways are Adhesion and Wnt / Hedgehog / Notch. Gene Ontology (GO) annotations related to this gene include integrin binding and extracellular matrix binding. An important paralog of this gene is POSTN.

UniProtKB/Swiss-Prot Summary for TGFBI Gene

  • Plays a role in cell adhesion (PubMed:8024701). May play a role in cell-collagen interactions (By similarity).

Gene Wiki entry for TGFBI Gene

Additional gene information for TGFBI Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TGFBI Gene

Genomics for TGFBI Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for TGFBI Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TGFBI on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TGFBI

Top Transcription factor binding sites by QIAGEN in the TGFBI gene promoter:
  • ISGF-3
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • SEF-1 (1)
  • SREBP-1c
  • STAT5B
  • ZID

Genomic Locations for TGFBI Gene

Latest Assembly
chr5:136,028,988-136,063,818
(GRCh38/hg38)
Size:
34,831 bases
Orientation:
Plus strand

Previous Assembly
chr5:135,364,677-135,399,507
(GRCh37/hg19 by Entrez Gene)
Size:
34,831 bases
Orientation:
Plus strand

chr5:135,364,584-135,399,507
(GRCh37/hg19 by Ensembl)
Size:
34,924 bases
Orientation:
Plus strand

Genomic View for TGFBI Gene

Genes around TGFBI on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TGFBI Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TGFBI Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for TGFBI Gene

Proteins for TGFBI Gene

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  1. Antibodies for research
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  3. Assay products for research

  • Protein details for TGFBI Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15582-BGH3_HUMAN
    Recommended name:
    Transforming growth factor-beta-induced protein ig-h3
    Protein Accession:
    Q15582
    Secondary Accessions:
    • D3DQB1
    • O14471
    • O14472
    • O14476
    • O43216
    • O43217
    • O43218
    • O43219
    • Q53XM1

    Protein attributes for TGFBI Gene

    Size:
    683 amino acids
    Molecular mass:
    74681 Da
    Quaternary structure:
    • Binds to type I, II, and IV collagens.

    Three dimensional structures from OCA and Proteopedia for TGFBI Gene

neXtProt entry for TGFBI Gene

Protein Expression for TGFBI Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for TGFBI Gene

  • Gamma-carboxylation is controversial. Gamma-carboxyglutamated; gamma-carboxyglutamate residues are formed by vitamin K dependent carboxylation; these residues may be required for binding to calcium (PubMed:18450759). According to a more recent report, does not contain vitamin K-dependent gamma-carboxyglutamate residues (PubMed:26273833).
  • The EMI domain contains 2 expected intradomain disulfide bridges (Cys-49-Cys85 and Cys-84-Cys-97) and one unusual interdomain disulfide bridge to the second FAS1 domain (Cys-74-Cys-339). This arrangement violates the predicted disulfide bridge pattern of an EMI domain.
  • Glycosylation at Ser28
  • Modification sites at PhosphoSitePlus

Other Protein References for TGFBI Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TGFBI Gene

Domains & Families for TGFBI Gene

Gene Families for TGFBI Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for TGFBI Gene

InterPro:
Blocks:
  • EMI
  • Beta-Ig-H3/Fasciclin domain

Suggested Antigen Peptide Sequences for TGFBI Gene

GenScript: Design optimal peptide antigens:
  • RGD-containing collagen-associated protein (BGH3_HUMAN)
  • Transforming growth factor beta (C7FFS5_HUMAN)
genes like me logo Genes that share domains with TGFBI: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TGFBI Gene

Function for TGFBI Gene

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  4. Inhibitory RNAs for research
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  6. Cell Lines for research

Molecular function for TGFBI Gene

UniProtKB/Swiss-Prot Function:
Plays a role in cell adhesion (PubMed:8024701). May play a role in cell-collagen interactions (By similarity).
UniProtKB/Swiss-Prot Induction:
By TGF-beta (PubMed:1388724, PubMed:8024701).
GENATLAS Biochemistry:
transforming growth factor B induced gene,keratoepithelin,expressed predominantly on the external surface of corneal epithelial cells,mutated in corneal dystrophies,major component of abnormal deposits

Phenotypes From GWAS Catalog for TGFBI Gene

Gene Ontology (GO) - Molecular Function for TGFBI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005178 integrin binding IEA --
GO:0005201 extracellular matrix structural constituent RCA 20551380
GO:0005515 protein binding IPI 18083624
GO:0005518 collagen binding IEA,IPI 19478074
GO:0042802 identical protein binding IPI 31197037
genes like me logo Genes that share ontologies with TGFBI: view
genes like me logo Genes that share phenotypes with TGFBI: view

Human Phenotype Ontology for TGFBI Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TGFBI Gene

MGI Knock Outs for TGFBI:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TGFBI

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TGFBI Gene

Localization for TGFBI Gene

Subcellular locations from UniProtKB/Swiss-Prot for TGFBI Gene

Secreted. Secreted, extracellular space, extracellular matrix. Note=May be associated both with microfibrils and with the cell surface (PubMed:8077289). {ECO:0000269 PubMed:8077289}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TGFBI gene
Compartment Confidence
extracellular 5
plasma membrane 4
golgi apparatus 4
cytosol 3
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for TGFBI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region HDA,TAS --
GO:0005604 basement membrane IEA --
GO:0005615 extracellular space TAS,IDA 19478074
GO:0005802 trans-Golgi network IDA 19478074
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with TGFBI: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TGFBI Gene

Pathways & Interactions for TGFBI Gene

genes like me logo Genes that share pathways with TGFBI: view

Pathways by source for TGFBI Gene

2 Reactome pathways for TGFBI Gene
2 Cell Signaling Technology pathways for TGFBI Gene

SIGNOR curated interactions for TGFBI Gene

Is activated by:

Gene Ontology (GO) - Biological Process for TGFBI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEP 11866539
GO:0002062 chondrocyte differentiation IEA --
GO:0007155 cell adhesion IEA,IBA 21873635
GO:0007162 negative regulation of cell adhesion TAS 8024701
GO:0007601 visual perception TAS,IEA --
genes like me logo Genes that share ontologies with TGFBI: view

Drugs & Compounds for TGFBI Gene

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(10) Drugs for TGFBI Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6959
genes like me logo Genes that share compounds with TGFBI: view

Transcripts for TGFBI Gene

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mRNA/cDNA for TGFBI Gene

1 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TGFBI

Alternative Splicing Database (ASD) splice patterns (SP) for TGFBI Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c ^ 12 ^
SP1: - - - - - - - -
SP2: - - - - -
SP3: - - - - - - -
SP4: - - - - -
SP5: - - - - - -
SP6: - - -
SP7: - - - - - - - - - - - -
SP8: -
SP9: - -
SP10: - - -
SP11:
SP12: - - - - - - - - - - - - - - -
SP13:
SP14:

ExUns: 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19a · 19b
SP1: - - - -
SP2: - - - -
SP3: - - - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13: - -
SP14:

Relevant External Links for TGFBI Gene

GeneLoc Exon Structure for
TGFBI

Expression for TGFBI Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TGFBI Gene

mRNA expression in normal human tissues for TGFBI Gene
mRNA expression by GTEx for TGFBI GenemRNA expression by BioGPS for TGFBI Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TGFBI Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (16.9) and Uterus (11.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TGFBI Gene



Protein tissue co-expression partners for TGFBI Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TGFBI

SOURCE GeneReport for Unigene cluster for TGFBI Gene:

Hs.369397

mRNA Expression by UniProt/SwissProt for TGFBI Gene:

Q15582-BGH3_HUMAN
Tissue specificity: Highly expressed in the corneal epithelium (PubMed:27609313, PubMed:8077289). Expressed in heart, placenta, lung, liver, skeletal muscle, kidney and pancreas (PubMed:8077289).

Evidence on tissue expression from TISSUES for TGFBI Gene

  • Kidney(5)
  • Nervous system(5)
  • Skin(4.9)
  • Lung(4.9)
  • Eye(4.8)
  • Liver(4.8)
  • Intestine(4.5)
  • Pancreas(4.5)
  • Spleen(3.8)
  • Heart(3)
  • Thyroid gland(3)
  • Blood(2.9)
  • Bone(2.8)
  • Muscle(2.7)
  • Lymph node(2.6)
  • Stomach(2.2)
  • Bone marrow(2.1)
  • Gall bladder(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TGFBI Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with TGFBI: view

Primer products for research

No data available for mRNA differential expression in normal tissues for TGFBI Gene

Orthologs for TGFBI Gene

This gene was present in the common ancestor of animals.

Orthologs for TGFBI Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia TGFBI 29 30
  • 99.66 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia TGFBI 29 30
  • 89.39 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia TGFBI 29 30
  • 89.03 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Tgfbi 29 16 30
  • 87.22 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia TGFBI 30
  • 86 (a)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Tgfbi 29
  • 85.94 (n)
Oppossum
(Monodelphis domestica)
 Mammalia TGFBI 30
  • 84 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves TGFBI 29 30
  • 77.54 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia TGFBI 30
  • 72 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia tgfbi 29
  • 69.56 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.1587 29
Zebrafish
(Danio rerio)
 Actinopterygii tgfbi 29 30
  • 63.83 (n)
 OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.9551 29
Fruit Fly
(Drosophila melanogaster)
 Insecta mfas 29 30 31
  • 43 (n)
 ManyToMany
Fas1 30
  • 20 (a)
 ManyToMany
CG43333 30
  • 5 (a)
 ManyToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP004428 29
  • 42.37 (n)
Worm
(Caenorhabditis elegans)
 Secernentea F26E4.7 30
  • 16 (a)
 OneToMany
Species where no ortholog for TGFBI was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for TGFBI Gene

ENSEMBL:
Gene Tree for TGFBI (if available)
TreeFam:
Gene Tree for TGFBI (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TGFBI: view image
Alliance of Genome Resources:
Additional Orthologs for TGFBI

Paralogs for TGFBI Gene

Paralogs for TGFBI Gene

(1) SIMAP similar genes for TGFBI Gene using alignment to 10 proteins:

  • BGH3_HUMAN
  • C7FFS5_HUMAN
  • D6RBX4_HUMAN
  • G8JLA8_HUMAN
  • H0Y8L3_HUMAN
  • H0Y8M8_HUMAN
  • H0Y9D7_HUMAN
  • H0YAB8_HUMAN
  • H0YAH8_HUMAN
  • S4R3C6_HUMAN
genes like me logo Genes that share paralogs with TGFBI: view

Variants for TGFBI Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TGFBI Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
1031533 Pathogenic: Avellino corneal dystrophy 136,052,940(+) T/TG
NM_000358.3(TGFBI):c.948dup (p.Cys317fs) 		FRAMESHIFT
904412 Uncertain Significance: Corneal dystrophy 136,049,562(+) G/A
NM_000358.3(TGFBI):c.895G>A (p.Asp299Asn) 		MISSENSE
904413 Uncertain Significance: Corneal dystrophy 136,052,993(+) A/G
NM_000358.3(TGFBI):c.1000A>G (p.Thr334Ala) 		MISSENSE
904475 Uncertain Significance: Corneal dystrophy 136,056,760(+) G/A
NM_000358.3(TGFBI):c.1643G>A (p.Arg548Gln) 		MISSENSE
904476 Likely Benign: Corneal dystrophy 136,056,762(+) G/A
NM_000358.3(TGFBI):c.1645G>A (p.Ala549Thr) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TGFBI Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TGFBI Gene

Variant ID Type Subtype PubMed ID
esv2759380 CNV loss 17122850

Variation tolerance for TGFBI Gene

Residual Variation Intolerance Score: 76.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.48; 55.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TGFBI Gene

Human Gene Mutation Database (HGMD)
TGFBI
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TGFBI
Leiden Open Variation Database (LOVD)
TGFBI

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TGFBI Gene

Disorders for TGFBI Gene

MalaCards: The human disease database

(44) MalaCards diseases for TGFBI Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search TGFBI in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BGH3_HUMAN
  • Corneal dystrophy, epithelial basement membrane (EBMD) [MIM:121820]: A bilateral anterior corneal dystrophy characterized by grayish epithelial fingerprint lines, geographic map-like lines, and dots (or microcysts) on slit-lamp examination. Pathologic studies show abnormal, redundant basement membrane and intraepithelial lacunae filled with cellular debris. {ECO:0000269 PubMed:16652336}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Corneal dystrophy, Groenouw type 1 (CDGG1) [MIM:121900]: A rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment. {ECO:0000269 PubMed:15623763}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200]: A form of lattice corneal dystrophy, a class of inherited stromal amyloidoses characterized by pathognomonic branching lattice figures in the cornea. CDL1 is characterized by progressive visual impairment, and the presence of delicate, double-contoured, interdigitating, elongated deposits that form a reticular pattern in the corneal stroma. Systemic amyloidosis is absent. Recurrent corneal ulceration sometimes occurs. {ECO:0000269 PubMed:10837380, ECO:0000269 PubMed:11413411, ECO:0000269 PubMed:14597039, ECO:0000269 PubMed:15531312, ECO:0000269 PubMed:15623763, ECO:0000269 PubMed:15838722, ECO:0000269 PubMed:16541014, ECO:0000269 PubMed:17013691, ECO:0000269 PubMed:9799082}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Corneal dystrophy, Thiel-Behnke type (CDTB) [MIM:602082]: A bilateral disorder of the cornea characterized by progressive honeycomb-like, subepithelial corneal opacities with recurrent erosions. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Corneal dystrophy, Reis-Bucklers type (CDRB) [MIM:608470]: A bilateral disorder of the cornea characterized by intermittent attacks of ocular irritation, recurrent painful corneal erosions starting in childhood, corneal opacities in a geographic pattern at the level of the Bowman layer, and a progressive decrease of visual acuity. The lesions are primarily in Bowman membrane with secondary involvement of the epithelium and superficial part of the stroma. Bowman membrane is almost completely replaced by pathologic materials including disoriented collagen fibrils. {ECO:0000269 PubMed:10660331, ECO:0000269 PubMed:15623763, ECO:0000269 PubMed:9780098}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Corneal dystrophy, lattice type 3A (CDL3A) [MIM:608471]: A form of lattice corneal dystrophy, a class of inherited stromal amyloidoses characterized by pathognomonic branching lattice figures in the cornea. CDL3A is characterized by decreased visual acuity, and the presence of thick, ropy branching lattice lines and accumulations of amyloid deposits in the corneal stroma. Systemic amyloidosis is absent. CDL3A clinically resembles to lattice corneal dystrophy type 3, but differs in that its age of onset is 70 to 90 years. It has an autosomal dominant inheritance pattern. {ECO:0000269 PubMed:15790870, ECO:0000269 PubMed:9497262}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Corneal dystrophy, Avellino type (CDA) [MIM:607541]: A corneal disease resulting in reduced visual acuity and characterized by gray, crumb-like granular deposits in the anterior third of the stroma in each corneal button. Fusiform amyloid deposits, histochemically and morphologically identical to those of lattice corneal dystrophy, are found in the deeper stroma. Additional features include recurrent corneal erosions, and glare and decreased night vision. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for TGFBI

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TGFBI: view

No data available for Genatlas for TGFBI Gene

Publications for TGFBI Gene

  1. Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-terminal fragments of keratoepithelin. (PMID: 15790870) Stix B … Röcken C (Investigative ophthalmology & visual science 2005) 3 4 22 72
  2. BIGH3 mutation spectrum in corneal dystrophies. (PMID: 11923233) Munier FL … Schorderet DF (Investigative ophthalmology & visual science 2002) 3 4 22 72
  3. A common beta ig-h3 gene mutation (delta f540) in a large cohort of Sardinian Reis Bücklers corneal dystrophy patients. Mutations in brief no. 180. Online. (PMID: 10660331) Rozzo C … Pirastu M (Human mutation 1998) 3 4 22 72
  4. Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy. (PMID: 9780098) Okada M … Tano Y (American journal of ophthalmology 1998) 3 4 22 72
  5. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. (PMID: 9054935) Munier FL … Schorderet DF (Nature genetics 1997) 3 4 22 72

ExternalLinks

View latest publications for TGFBI gene in Mastermind

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