• Gene id: 7045

Gene Summary

• Gene Symbol: TGFBI   Gene   UCSC   Ensembl
• Aliases: BIGH3, CDB1, CDG2, CDGG1, CSD, CSD1, CSD2, CSD3, EBMD, LCD1
• Gene name: transforming growth factor beta induced
• Alternate names: transforming growth factor-beta-induced protein ig-h3, 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,
• Gene location: 5q31.1 (136028987: 136063817)     Exons: 17     NC_000005.10
• Gene summary(Entrez): 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 pl
• OMIM: 601692

Protein Summary

• Protein general information: Q15582  
  • Name: Transforming growth factor beta induced protein ig h3 (Beta ig h3) (Kerato epithelin) (RGD containing collagen associated protein) (RGD CAP)
  • Length: 683  
  • Mass: 74681
  • Tissue specificity: Highly expressed in the corneal epithelium (PubMed
• Sequence:

  MALFVRLLALALALALGPAATLAGPAKSPYQLVLQHSRLRGRQHGPNVCAVQKVIGTNRKYFTNCKQWYQRKICG
  KSTVISYECCPGYEKVPGEKGCPAALPLSNLYETLGVVGSTTTQLYTDRTEKLRPEMEGPGSFTIFAPSNEAWAS
  LPAEVLDSLVSNVNIELLNALRYHMVGRRVLTDELKHGMTLTSMYQNSNIQIHHYPNGIVTVNCARLLKADHHAT
  NGVVHLIDKVISTITNNIQQIIEIEDTFETLRAAVAASGLNTMLEGNGQYTLLAPTNEAFEKIPSETLNRILGDP
  EALRDLLNNHILKSAMCAEAIVAGLSVETLEGTTLEVGCSGDMLTINGKAIISNKDILATNGVIHYIDELLIPDS
  AKTLFELAAESDVSTAIDLFRQAGLGNHLSGSERLTLLAPLNSVFKDGTPPIDAHTRNLLRNHIIKDQLASKYLY
  HGQTLETLGGKKLRVFVYRNSLCIENSCIAAHDKRGRYGTLFTMDRVLTPPMGTVMDVLKGDNRFSMLVAAIQSA
  GLTETLNREGVYTVFAPTNEAFRALPPRERSRLLGDAKELANILKYHIGDEILVSGGIGALVRLKSLQGDKLEVS
  LKNNVVSVNKEPVAEPDIMATNGVVHVITNVLQPPANRPQERGDELADSALEIFKQASAFSRASQRSVRLAPVYQ
  KLLERMKH

• Structural information:
  • Protein Domains: (45..9-)
    (/note="EMI-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00384-)
    (103..23-)
    (/note="FAS1-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00082-)
    (240..37-)
    (/note="FAS1-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00082-)
    (-)
  • Interpro: IPR011489  IPR036378  IPR000782  IPR032954  IPR016666  
  • Prosite: PS51041 PS50213
  • PDB: 1X3B 2LTB 2LTC 2VXP 5NV6
  • PDBsum: 1X3B 2LTB 2LTC 2VXP 5NV6
  • STRING: ENSP00000416330
• Other Databases: GeneCards:  TGFBI  Malacards:  TGFBI

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031012	extracellular matrix	IBA	cellular component
GO:0005615	extracellular space	IBA	cellular component
GO:0050839	cell adhesion molecule binding	IBA	molecular function
GO:0030198	extracellular matrix organization	IBA	biological process
GO:0007155	cell adhesion	IBA	biological process
GO:0050840	extracellular matrix binding	IEA	molecular function
GO:0005178	integrin binding	IEA	molecular function
GO:0005518	collagen binding	IEA	molecular function
GO:0007155	cell adhesion	IEA	biological process
GO:0008283	cell population proliferation	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0007601	visual perception	IEA	biological process
GO:0050896	response to stimulus	IEA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0005178	integrin binding	TAS	molecular function
GO:0007162	negative regulation of cell adhesion	TAS	biological process
GO:0008283	cell population proliferation	TAS	biological process
GO:0005615	extracellular space	TAS	cellular component
GO:0007601	visual perception	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0002062	chondrocyte differentiation	IEA	biological process
GO:0030198	extracellular matrix organization	IEA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0005604	basement membrane	IEA	cellular component
GO:0050840	extracellular matrix binding	IEA	molecular function
GO:0031012	extracellular matrix	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005518	collagen binding	IPI	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0062023	collagen-containing extracellular matrix	ISS	colocalizes with
GO:0062023	collagen-containing extracellular matrix	HDA	colocalizes with
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0005201	extracellular matrix structural constituent	ISS	molecular function
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005576	extracellular region	HDA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0001525	angiogenesis	IEP	biological process

Diseases

Associated diseases	References
Reis-Bucklers corneal dystrophy	KEGG:H00951
Thiel-Behnke dystrophies	KEGG:H00952
Granular corneal dystrophies	KEGG:H00955
Lattice corneal dystrophies	KEGG:H00956
Epithelial basement membrane corneal dystrophy	KEGG:H01221
Reis-Bucklers corneal dystrophy	KEGG:H00951
Thiel-Behnke dystrophies	KEGG:H00952
Granular corneal dystrophies	KEGG:H00955
Lattice corneal dystrophies	KEGG:H00956
Epithelial basement membrane corneal dystrophy	KEGG:H01221
Corneal dystrophy	PMID:9054935
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881