Latent Transforming Growth Factor-Beta-Binding Protein 2

Alternative Names

LTBP2

Length

114,055 bases

No. of Exons

Protein Name

Latent-transforming growth factor beta-binding protein 2

Molecular Mass

195052 Da

Amino Acid Count

1821

Genomic Location

chr14:74,498,183-74,612,237

Gene Map Locus

14q24.3

Description

The protein encoded by this gene belongs to the family of latent transforming growth factor (TGF)-beta binding proteins (LTBP), which are extracellular matrix proteins with multi-domain structure. This protein is the largest member of the LTBP family possessing unique regions and with most similarity to the fibrillins. It has thus been suggested that it may have multiple functions: as a member of the TGF-beta latent complex, as a structural component of microfibrils, and a role in cell adhesion. [From RefSeq]

Epidemiology in the Arab World

View Map

Saudi Arabia

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_000428.3:c.1012del	Saudi Arabia	NC_000014.9:g.74555512del	Pathogenic	Pathogenic	Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma	NG_021486.1:g.61820del; NM_000428.3:c.1012del; NP_000419.1:p.Ser338ProfsTer5	1566636728	31628
NM_000428.3:c.4313G>A	Saudi Arabia	NC_000014.9:g.74505039C>T	Pathogenic	Pathogenic	Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma	NG_021486.1:g.112293G>A; NM_000428.3:c.4313G>A; NP_000419.1:p.Cys1438Tyr	387907175	31630
NM_000428.3:c.4855C>T	Saudi Arabia	NC_000014.9:g.74503252G>A	Pathogenic	Pathogenic	Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma	NG_021486.1:g.114080C>T; NM_000428.3:c.4855C>T; NP_000419.1:p.Gln1619Ter	387907174	31629

Download Table

External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=ltbp2

Contributors

Asha Deepthi: 25.10.2022

Edit History

Asha Deepthi: 25.10.2022

Back to search Result