LTBP2 gene homepage

General information
Gene symbol LTBP2
Gene name latent transforming growth factor beta binding protein 2
Chromosome 14
Chromosomal band q24.3
Imprinted Unknown
Genomic reference NG_021486.1
Transcript reference NM_000428.2
Exon/intron information NM_000428.2 exon/intron table
Associated with diseases GLC-3B, GLC-3D, MSPKA, WMS-3
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Ramona Haji-Seyed-Javadi
Total number of public variants reported 136
Unique public DNA variants reported 95
Individuals with public variants 110
Hidden variants 2
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 29, 2010
Date last updated June 11, 2019
Version LTBP2:190611

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000428.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/LTBP2
External URL Orphanet
HGNC 6715
Entrez Gene 4053
PubMed articles LTBP2
OMIM - Gene 602091
OMIM - Diseases GLC-3B (glaucoma, congenital, primary infantile, type 3B (GLC-3B))
GLC-3D (glaucoma, congenital, primary, type 3D (GLC-3D))
MSPKA (microspherophakia and/or megalocornea, with ectopia lentis, with/without secondary glaucoma (MSPKA))
WMS-3 (Weill-Marchesani syndrome, type 3 (WMS-3))
HGMD LTBP2
GeneCards LTBP2
GeneTests LTBP2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00011552 14 latent transforming growth factor beta binding protein 2 NM_000428.2 NP_000419.1 136


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