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TGFBI transforming growth factor, beta-induced, 68kDa [ Homo sapiens (human) ]

Gene ID: 7045, updated on 21-Oct-2014
Official Symbol
TGFBIprovided by HGNC
Official Full Name
transforming growth factor, beta-induced, 68kDaprovided by HGNC
Primary source
HGNC:HGNC:11771
See related
Ensembl:ENSG00000120708; HPRD:03409; 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]
See TGFBI in Epigenomics, MapViewer
Location:
5q31
Exon count:
17
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 vault RNA 2-1 Neighboring gene SMAD5 antisense RNA 1 Neighboring gene SMAD family member 5

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
  • Amyloids, organism-specific biosystem (from REACTOME)
    Amyloids, organism-specific biosystemAmyloid is a term used to describe typically extracellular deposits of aggregated proteins, sometimes known as plaques. Abnormal accumulation of amyloid is amyloidosis, a term associated with disease...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
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 TAS
Traceable Author Statement
more info
PubMed 
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 TAS
Traceable Author Statement
more info
PubMed 
chondrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix organization IEA
Inferred from Electronic Annotation
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
 
colocalizes_with extracellular matrix IDA
Inferred from Direct Assay
more info
 
colocalizes_with extracellular matrix ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
trans-Golgi network IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
transforming growth factor-beta-induced protein ig-h3
Names
transforming growth factor-beta-induced protein ig-h3
RGD-CAP
beta ig-h3
kerato-epithelin
RGD-containing collagen-associated protein
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 

    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 proteins identical to NP_000349.1

    Status: REVIEWED

    Source sequence(s)
    BC000097, DA051240, M77349
    Consensus CDS
    CCDS47266.1
    UniProtKB/Swiss-Prot
    Q15582
    Related
    ENSP00000416330, OTTHUMP00000223339, ENST00000442011, OTTHUMT00000372108
    Conserved Domains (2) summary
    pfam02469
    Location:514634
    Fasciclin; Fasciclin domain
    pfam07546
    Location:4592
    EMI; EMI domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000005.10 

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

Alternate HuRef

Genomic

  1. AC_000137.1 

    Range
    130553034..130587955
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 

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