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

    Gene ID: 7045, updated on 19-Nov-2017
    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; Vega:OTTHUMG00000163213
    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
    Location:
    5q31.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 5 NC_000005.10 (136028895..136063818)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (135364584..135399507)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene F-box and leucine rich repeat protein 21 (gene/pseudogene) Neighboring gene leukocyte cell derived chemotaxin 2 Neighboring gene uncharacterized LOC105379189 Neighboring gene vault RNA 2-1 Neighboring gene SMAD5 antisense RNA 1 Neighboring gene SMAD family member 5

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Avellino corneal dystrophy
    MedGen: C1275685 OMIM: 607541 GeneReviews: Not available
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    Corneal epithelial dystrophy
    MedGen: C0521723 OMIM: 121820 GeneReviews: Not available
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    Groenouw corneal dystrophy type I
    MedGen: C1641846 OMIM: 121900 GeneReviews: Not available
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    Lattice corneal dystrophy type 3A
    MedGen: C1837974 OMIM: 608471 GeneReviews: Not available
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    Lattice corneal dystrophy Type I
    MedGen: C1690006 OMIM: 122200 GeneReviews: Not available
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    Reis-Bucklers' corneal dystrophy
    MedGen: C0339278 OMIM: 608470 GeneReviews: Not available
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    Thiel-Behnke corneal dystrophy
    MedGen: C1562894 OMIM: 602082 GeneReviews: Not available
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    NHGRI GWAS Catalog

    Description
    Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.
    NHGRI GWA Catalog
    • Amyloid fiber formation, organism-specific biosystem (from REACTOME)
      Amyloid fiber formation, organism-specific biosystemAmyloid is a term used to describe deposits of fibrillar proteins, typically extracellular. The abnormal accumulation of amyloid, amyloidosis, is a term associated with tissue damage caused by amyloi...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    collagen binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    extracellular matrix binding IEA
    Inferred from Electronic Annotation
    more info
     
    integrin binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    angiogenesis IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    cellular protein metabolic process TAS
    Traceable Author Statement
    more info
     
    chondrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    negative regulation of cell adhesion TAS
    Traceable Author Statement
    more info
    PubMed 
    response to stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    basement membrane IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with extracellular matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    extracellular region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    proteinaceous extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    trans-Golgi network IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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

    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
      5001..39924
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000358.2NP_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
      Q15582
      UniProtKB/TrEMBL
      A0A0S2Z4Q2
      Related
      ENSP00000416330.2, OTTHUMP00000223339, ENST00000442011.6, OTTHUMT00000372108
      Conserved Domains (1) summary
      pfam02469
      Location:514634
      Fasciclin; Fasciclin domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

      Range
      136028895..136063818
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      134797217..134832140
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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