TGFBI transforming growth factor beta induced

Gene ID: 7045, updated on 18-Jan-2025
Gene type: protein coding
Also known as: CSD; CDB1; CDG2; CSD1; CSD2; CSD3; EBMD; LCD1; BIGH3; CDGG1

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Avellino corneal dystrophy MedGen: C1275685OMIM: 607541GeneReviews: Not available	See labs
Corneal dystrophy, lattice type 3A MedGen: C1837974OMIM: 608471GeneReviews: Not available	See labs
Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines. GeneReviews: Not available
Epithelial basement membrane dystrophy MedGen: C0521723OMIM: 121820GeneReviews: Not available	See labs
Groenouw corneal dystrophy type I MedGen: C1641846OMIM: 121900GeneReviews: Not available	See labs
Lattice corneal dystrophy Type I MedGen: C1690006OMIM: 122200GeneReviews: Not available	See labs
Reis-Bucklers' corneal dystrophy MedGen: C0339278OMIM: 608470GeneReviews: Not available	See labs
Thiel-Behnke corneal dystrophy MedGen: C1562894OMIM: 602082GeneReviews: Not available	See labs

Genomic context

Location:: 5q31.1

Sequence:: Chromosome: 5; NC_000005.10 (136028988..136063818)

Total number of exons:: 17

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for TGFBI variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
TGFBI database
Variation Viewer
Related Variants

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