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Aliases for TGFBI Gene

Aliases for TGFBI Gene

  • Transforming Growth Factor Beta Induced 2 3 5
  • Transforming Growth Factor, Beta-Induced, 68kDa 2 3
  • 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
  • BIGH3 3 4
  • Transforming Growth Factor Beta-Induced 68kDa 3
  • Betaig-H3 3
  • CDGG1 3
  • CDB1 3
  • CDG2 3
  • EBMD 3
  • CSD1 3
  • CSD2 3
  • CSD3 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, avellino type and corneal dystrophy, reis-bucklers type. Among its related pathways are Adhesion and Wnt / Hedgehog / Notch. GO annotations related to this gene include integrin binding and extracellular matrix binding. An important paralog of this gene is POSTN.

UniProtKB/Swiss-Prot for TGFBI Gene

  • Binds to type I, II, and IV collagens. This adhesion protein may play an important role in cell-collagen interactions. In cartilage, may be involved in endochondral bone formation.

Gene Wiki entry for TGFBI Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TGFBI Gene

Genomics for TGFBI Gene

Regulatory Elements for TGFBI Gene

Enhancers for TGFBI Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TGFBI on UCSC Golden Path with GeneCards custom track

Promoters for TGFBI Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TGFBI on UCSC Golden Path with GeneCards custom track

Genomic Location for TGFBI Gene

Chromosome:
5
Start:
136,028,895 bp from pter
End:
136,063,818 bp from pter
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 StructureGene Density

RefSeq DNA sequence for TGFBI Gene

Proteins for TGFBI Gene

  • 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:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for TGFBI Gene

neXtProt entry for TGFBI Gene

Proteomics data for TGFBI Gene at MOPED

Post-translational modifications for TGFBI Gene

  • Gamma-carboxyglutamate residues are formed by vitamin K dependent carboxylation. These residues are essential for the binding of calcium (By similarity).
  • Glycosylation at Ser 28
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TGFBI (betaIG-H3)

No data available for DME Specific Peptides for TGFBI Gene

Domains & Families for TGFBI Gene

Protein Domains for TGFBI Gene

Suggested Antigen Peptide Sequences for TGFBI Gene

Graphical View of Domain Structure for InterPro Entry

Q15582

UniProtKB/Swiss-Prot:

BGH3_HUMAN :
  • Contains 1 EMI domain.
Domain:
  • Contains 1 EMI domain.
  • Contains 4 FAS1 domains.
genes like me logo Genes that share domains with TGFBI: view

No data available for Gene Families for TGFBI Gene

Function for TGFBI Gene

Molecular function for TGFBI Gene

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
UniProtKB/Swiss-Prot Function:
Binds to type I, II, and IV collagens. This adhesion protein may play an important role in cell-collagen interactions. In cartilage, may be involved in endochondral bone formation.
UniProtKB/Swiss-Prot Induction:
By TGFB1.
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 Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for TGFBI Gene

Localization for TGFBI Gene

Subcellular locations from UniProtKB/Swiss-Prot for TGFBI Gene

Secreted, extracellular space, extracellular matrix. Note=May be associated both with microfibrils and with the cell surface.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TGFBI Gene COMPARTMENTS Subcellular localization image for TGFBI gene
Compartment Confidence
extracellular 5
golgi apparatus 5
plasma membrane 5
cytoskeleton 3
cytosol 3
nucleus 3
endoplasmic reticulum 2
lysosome 2
mitochondrion 2
vacuole 2
endosome 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TGFBI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005604 basement membrane IEA --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with TGFBI: view

Pathways & Interactions for TGFBI Gene

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

Pathways by source for TGFBI Gene

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

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:0007162 negative regulation of cell adhesion TAS 8024701
genes like me logo Genes that share ontologies with TGFBI: view

No data available for SIGNOR curated interactions for TGFBI Gene

Drugs & Compounds for TGFBI Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with TGFBI: view

Transcripts for TGFBI Gene

Unigene Clusters for TGFBI Gene

Transforming growth factor, beta-induced, 68kDa:
Representative Sequences:

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
ECgene alternative splicing isoforms for
TGFBI

Expression for TGFBI Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for TGFBI Gene



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.
genes like me logo Genes that share expression patterns with TGFBI: view

Protein tissue co-expression partners for TGFBI Gene

- Elite partner

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia TGFBI 35
  • 89.39 (n)
  • 92.91 (a)
TGFBI 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TGFBI 35
  • 89.03 (n)
  • 93.1 (a)
TGFBI 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tgfbi 35
  • 87.22 (n)
  • 91.21 (a)
Tgfbi 16
Tgfbi 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TGFBI 35
  • 99.66 (n)
  • 100 (a)
TGFBI 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tgfbi 35
  • 85.94 (n)
  • 90.29 (a)
oppossum
(Monodelphis domestica)
Mammalia TGFBI 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TGFBI 36
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves TGFBI 35
  • 77.54 (n)
  • 79.57 (a)
TGFBI 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TGFBI 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tgfbi 35
  • 69.56 (n)
  • 74.54 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1587 35
zebrafish
(Danio rerio)
Actinopterygii tgfbi 35
  • 63.83 (n)
  • 64.4 (a)
tgfbi 36
  • 61 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9551 35
fruit fly
(Drosophila melanogaster)
Insecta mfas 37
  • 22 (a)
mfas 35
  • 43 (n)
  • 26.67 (a)
CG43333 36
  • 5 (a)
ManyToMany
Fas1 36
  • 20 (a)
ManyToMany
mfas 36
  • 16 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004428 35
  • 42.37 (n)
  • 27.29 (a)
worm
(Caenorhabditis elegans)
Secernentea F26E4.7 36
  • 16 (a)
OneToMany
Species with no ortholog for TGFBI:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for TGFBI Gene

Paralogs for TGFBI Gene

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

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

Variants for TGFBI Gene

Sequence variations from dbSNP and Humsavar for TGFBI Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
VAR_005076 Corneal dystrophy, lattice type 1 (CDL1)
VAR_005077 Corneal dystrophy, Avellino type (CDA)
VAR_005078 Corneal dystrophy, Reis-Bucklers type (CDRB)
rs121909212 Corneal dystrophy, lattice type 3A (CDL3A) 136,055,770(+) CCCCC(A/C/G/T)CAATG reference, missense
VAR_005080 Corneal dystrophy, lattice type 1 (CDL1)

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

Variant ID Type Subtype PubMed ID
dgv1853e1 CNV Complex 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)

Relevant External Links for TGFBI Gene

HapMap Linkage Disequilibrium report
TGFBI
Human Gene Mutation Database (HGMD)
TGFBI

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

Disorders for TGFBI Gene

MalaCards: The human disease database

(43) MalaCards diseases for TGFBI Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
corneal dystrophy, avellino type
  • granular corneal dystrophy type ii
corneal dystrophy, reis-bucklers type
  • reis-bucklers corneal dystrophy
corneal dystrophy, lattice type i
  • lattice corneal dystrophy type 1
corneal dystrophy, thiel-behnke type
  • thiel-behnke corneal dystrophy
corneal dystrophy, groenouw type i
  • groenouw type i corneal dystrophy
- 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, 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 mutations affecting the gene represented in this entry.
  • 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 mutations 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 mutations 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 mutations 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 mutations 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 mutations 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 mutations affecting the gene represented in this entry.

Relevant External Links for TGFBI

Genetic Association Database (GAD)
TGFBI
Human Genome Epidemiology (HuGE) Navigator
TGFBI
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TGFBI
genes like me logo Genes that share disorders with TGFBI: view

No data available for Genatlas for TGFBI Gene

Publications for TGFBI Gene

  1. Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan. (PMID: 11024425) Mashima Y. … Kinoshita S. (Am. J. Ophthalmol. 2000) 3 4 48 67
  2. Massively parallel signature sequencing and bioinformatics analysis identifies up-regulation of TGFBI and SOX4 in human glioblastoma. (PMID: 20419098) Lin B. … Foltz G. (PLoS ONE 2010) 3 23
  3. TGFBI (BIGH3) gene mutations in German families: two novel mutations associated with unique clinical and histopathological findings. (PMID: 19001012) Gruenauer-Kloevekorn C. … Auw-Haedrich C. (Br J Ophthalmol 2009) 3 23
  4. A corneal dystrophy associated with transforming growth factor beta-induced Gly623Asp mutation an amyloidogenic phenotype. (PMID: 19019446) Auw-Haedrich C. … Gruenauer-Kloevekorn C. (Ophthalmology 2009) 3 23
  5. Clinical and genetic features of TGFBI-linked corneal dystrophies in Mexican population: description of novel mutations and novel genotype-phenotype correlations. (PMID: 19303004) Zenteno J.C. … Villanueva-Mendoza C. (Exp. Eye Res. 2009) 3 23

Products for TGFBI Gene

Sources for TGFBI Gene

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