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

    Gene ID: 7045, updated on 5-May-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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TGFBI in Genome Data Viewer
    Location:
    5q31.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (136028988..136063818)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (136551486..136586315)
    105.20220307 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
    not available
    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
    not available
    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)

    NEW Try the new Transcript table

    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_2023_10

    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)