TGFBI transforming growth factor beta induced [Homo sapiens (human)] - Gene

Summary

Official Symbol: TGFBIprovided by HGNC
Official Full Name: transforming growth factor beta inducedprovided by HGNC
Primary source: HGNC:HGNC:11771
See related: Ensembl:ENSG00000120708 MIM:601692; AllianceGenome:HGNC:11771
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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]
Expression: Broad expression in placenta (RPKM 227.8), skin (RPKM 133.2) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q31.1

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (136028988..136063818)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (136551486..136586315)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (135364677..135399507)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report.
Title: Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report.
BIGH3 mediates apoptosis and gap junction failure in osteocytes during renal cell carcinoma bone metastasis progression.
Title: BIGH3 mediates apoptosis and gap junction failure in osteocytes during renal cell carcinoma bone metastasis progression.
Expression of TGFBI in infantile hemangioma tissues and its effect on the biological characteristics of hemangioma endothelial cells.
Title: Expression of TGFBI in infantile hemangioma tissues and its effect on the biological characteristics of hemangioma endothelial cells.
Distribution of TGFBI variants in patients with early onset glaucoma.
Title: Distribution of TGFBI variants in patients with early onset glaucoma.
A Novel Heterozygous TGFBI c.1613C>A Pathogenic Variant is Associated With Lattice Corneal Dystrophy in a Chinese Family.
Title: A Novel Heterozygous TGFBI c.1613C>A Pathogenic Variant is Associated With Lattice Corneal Dystrophy in a Chinese Family.
Novel prognostic marker TGFBI affects the migration and invasion function of ovarian cancer cells and activates the integrin alphavbeta3-PI3K-Akt signaling pathway.
Title: Novel prognostic marker TGFBI affects the migration and invasion function of ovarian cancer cells and activates the integrin αvβ3-PI3K-Akt signaling pathway.
HIF-2alpha-dependent TGFBI promotes ovarian cancer chemoresistance by activating PI3K/Akt pathway to inhibit apoptosis and facilitate DNA repair process.
Title: HIF-2α-dependent TGFBI promotes ovarian cancer chemoresistance by activating PI3K/Akt pathway to inhibit apoptosis and facilitate DNA repair process.
A novel role of TGFBI in macrophage polarization and macrophage-induced pancreatic cancer growth and therapeutic resistance.
Title: A novel role of TGFBI in macrophage polarization and macrophage-induced pancreatic cancer growth and therapeutic resistance.
The TGFBI gene and protein expression in topotecan resistant ovarian cancer cell lines.
Title: The TGFBI gene and protein expression in topotecan resistant ovarian cancer cell lines.
FN1 and TGFBI are key biomarkers of macrophage immune injury in diabetic kidney disease.
Title: FN1 and TGFBI are key biomarkers of macrophage immune injury in diabetic kidney disease.

Submit: New GeneRIF Correction See all GeneRIFs (247)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Avellino corneal dystrophy MedGen: C1275685 OMIM: 607541 GeneReviews: Not available	not available
Corneal dystrophy, lattice type 3A MedGen: C1837974 OMIM: 608471 GeneReviews: Not available	not available
Epithelial basement membrane dystrophy MedGen: C0521723 OMIM: 121820 GeneReviews: Not available	not available
Groenouw corneal dystrophy type I MedGen: C1641846 OMIM: 121900 GeneReviews: Not available	not available
Lattice corneal dystrophy Type I MedGen: C1690006 OMIM: 122200 GeneReviews: Not available	not available
Reis-Bucklers' corneal dystrophy MedGen: C0339278 OMIM: 608470 GeneReviews: Not available	not available
Thiel-Behnke corneal dystrophy MedGen: C1562894 OMIM: 602082 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH76242 (e-PCR)
- UniSTS:88848

RH36452 (e-PCR)
- UniSTS:72475

RH79676 (e-PCR)
- UniSTS:87125

RH67865 (e-PCR)
- UniSTS:3441

G54047 (e-PCR)
- UniSTS:109429

bac5130T (e-PCR)
- UniSTS:181443

G60167 (e-PCR)
- UniSTS:137426

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cell adhesion molecule binding	IBA Inferred from Biological aspect of Ancestor more info
enables collagen binding	IPI Inferred from Physical Interaction more info	PubMed
enables extracellular matrix binding	IEA Inferred from Electronic Annotation more info
enables extracellular matrix structural constituent	ISS Inferred from Sequence or Structural Similarity more info
enables extracellular matrix structural constituent	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables integrin binding	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in angiogenesis	IEP Inferred from Expression Pattern more info	PubMed
involved_in cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell population proliferation	TAS Traceable Author Statement more info	PubMed
involved_in chondrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in extracellular matrix organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of cell adhesion	TAS Traceable Author Statement more info	PubMed
involved_in visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in basement membrane	IEA Inferred from Electronic Annotation more info
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
colocalizes_with collagen-containing extracellular matrix	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
is_active_in extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in trans-Golgi network	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: transforming growth factor-beta-induced protein ig-h3

Names: RGD-CAP; RGD-containing collagen-associated protein; beta ig-h3; betaig-h3; kerato-epithelin; transforming growth factor beta-induced 68kDa; transforming growth factor, beta-induced, 68kD

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.