The LTBP3 gene homepage

General information
Gene symbol LTBP3
Gene name latent transforming growth factor beta binding protein 3
Chromosome 11
Chromosomal band q12
Imprinted Unknown
Genomic reference NG_016437.1
Transcript reference NM_001130144.2
Exon/intron information NM_001130144.2 exon/intron table
Associated with diseases DASS, GPHYSD3, STHAG6
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 92
Unique public DNA variants reported 81
Individuals with public variants 3
Hidden variants 12
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated May 09, 2022
Version LTBP3:220509

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_001130144.2.
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
HGNC 6716
Entrez Gene 4054
PubMed articles LTBP3
OMIM - Gene 602090
OMIM - Diseases DASS (dental anomalies and short stature (DASS))
GPHYSD3 (Geleophysic dysplasia 3)
STHAG6 (agenesis, tooth, selective, type 6 (STHAG-6))
GeneCards LTBP3
GeneTests LTBP3
Orphanet LTBP3

Active transcripts




NCBI ID     

NCBI Protein ID     

00024184 11 transcript variant 1 NM_001130144.2 NP_001123616.1 92

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