TGFBI

TGFBI
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1X3B, 2LTB, 2LTC, 2VXP
Identifiers
Aliases	TGFBI, BIGH3, CDB1, CDG2, CDGG1, CSD, CSD1, CSD2, CSD3, EBMD, LCD1, transforming growth factor beta induced
External IDs	OMIM: 601692; MGI: 99959; HomoloGene: 37294; GeneCards: TGFBI; OMA:TGFBI - orthologs
Gene location (Human)
Chr.	Chromosome 5 (human)
End	136,063,818 bp
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)
End	56,787,375 bp
RNA expression pattern
	Top expressed in
	amniotic fluid; ; synovial joint; ; pericardium; ; tendon of biceps brachii; ; monocyte; ; synovial membrane; ; skin of hip; ; skin of thigh; ; skin of abdomen; ; gallbladder;
	Top expressed in
	corneal stroma; ; skin of external ear; ; vas deferens; ; conjunctival fornix; ; ankle; ; umbilical cord; ; condyle; ; molar; ; tunica adventitia of aorta; ; Paneth cell;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	integrin binding; protein binding; collagen binding; extracellular matrix binding; extracellular matrix structural constituent; cell adhesion molecule binding;
Cellular component	extracellular matrix; basement membrane; trans-Golgi network; plasma membrane; extracellular exosome; extracellular space; extracellular region; collagen-containing extracellular matrix;
Biological process	negative regulation of cell adhesion; cell population proliferation; chondrocyte differentiation; angiogenesis; response to stimulus; visual perception; cell adhesion; extracellular matrix organization;
	Sources:Amigo / QuickGO
Orthologs
	7045
	21810
	ENSG00000120708
	ENSMUSG00000035493
	Q15582
	P82198
	NM_000358
	NM_009369
	NP_000349
	NP_033395
	Wikidata
View/Edit Human	View/Edit Mouse

Transforming growth factor, beta-induced, 68kDa, also known as TGFBI (initially called BIGH3, BIG-H3), is a protein which in humans is encoded by the TGFBI gene, locus 5q31.^[5]^[6]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000120708 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000035493 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: TGFBI transforming growth factor, beta-induced, 68kDa".
^ Munier FL, Korvatska E, Djemaï A, Le Paslier D, Zografos L, Pescia G, Schorderet DF (March 1997). "Kerato-epithelin mutations in four 5q31-linked corneal dystrophies". Nat. Genet. 15 (3): 247–51. doi:10.1038/ng0397-247. PMID 9054935. S2CID 19284412.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000120708 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000035493 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: TGFBI transforming growth factor, beta-induced, 68kDa".

[pmid9054935-6] Munier FL, Korvatska E, Djemaï A, Le Paslier D, Zografos L, Pescia G, Schorderet DF (March 1997). "Kerato-epithelin mutations in four 5q31-linked corneal dystrophies". Nat. Genet. 15 (3): 247–51. doi:10.1038/ng0397-247. PMID 9054935. S2CID 19284412.

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