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

Gene ID: 7045, updated on 10-Dec-2024

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
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Genomic context

See TGFBI in Genome Data Viewer
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_000005.10Genomic Context describing neighboring genes Neighboring gene leukocyte cell derived chemotaxin 2 Neighboring gene Sharpr-MPRA regulatory region 2274 Neighboring gene NANOG hESC enhancer GRCh37_chr5:135310975-135311476 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:135337055-135337556 Neighboring gene uncharacterized LOC105379189 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23176 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23177 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:135388921-135390120 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16378 Neighboring gene vault RNA 2-1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23179 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16379 Neighboring gene SMAD5 antisense RNA 1 Neighboring gene SMAD family member 5

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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
 

General protein information

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.

Genomic

  1. NG_012646.1 RefSeqGene

    Range
    5094..39924
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000358.3NP_000349.1  transforming growth factor-beta-induced protein ig-h3 precursor

    See identical proteins and their annotated locations for NP_000349.1

    Status: REVIEWED

    Source sequence(s)
    BC000097, DA051240, M77349
    Consensus CDS
    CCDS47266.1
    UniProtKB/Swiss-Prot
    D3DQB1, O14471, O14472, O14476, O43216, O43217, O43218, O43219, Q15582, Q53XM1
    UniProtKB/TrEMBL
    A0A0S2Z4Q2, Q53GU8
    Related
    ENSP00000416330.2, ENST00000442011.7
    Conserved Domains (1) summary
    pfam02469
    Location:514634
    Fasciclin; Fasciclin domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    136028988..136063818
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    136551486..136586315
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)