LTBP2 latent transforming growth factor beta binding protein 2
Gene ID: 4053, updated on 5-Mar-2024Gene type: protein coding
Also known as: WMS3; GLC3D; LTBP3; MSPKA; MSTP031; C14orf141
- See all available tests in GTR for this gene
- Go to complete Gene record for LTBP2
- Go to Variation Viewer for LTBP2 variants
Summary
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. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Glaucoma 3, primary congenital, D | See labs |
| Glaucoma 3, primary infantile, B | See labs |
| Hundreds of variants clustered in genomic loci and biological pathways affect human height. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. GeneReviews: Not available | |
| Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma | See labs |
| Weill-Marchesani syndrome 3 | See labs |
Genomic context
- Location:
- 14q24.3
- Sequence:
- Chromosome: 14; NC_000014.9 (74498183..74612237, complement)
- Total number of exons:
- 36
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for LTBP2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- LTBP2 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.