LTBP2 latent transforming growth factor beta binding protein 2

Gene info

Synonyms

None

Previous symbol

LTBP3, C14orf141

External ID

HGNC: 6715
Entrez Gene: 4053
Ensembl: ENSG00000119681
UCSC: uc001xqa.4
OMIM: 602091
UniProtKB: Q14767

Disease info

CHD Phenotype

  • Bicuspid aortic valve
  • Transposition of the great arteries
  • Aortic stenosis
  • Pulmonic stenosis

Extra Cardiac Phenotype

Primary congenital glaucoma, microspherophakia/megalocornea, ectopia lentis, high-arched palate, tall stature

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

Mice homozygous for the null allele exhibit early embryonic lethality

MGI ID

Variant info

Clinvar

Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for LTBP2: BED file

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Selected References

  1. Chen, Yang, Z., Hou, H., Wang, J., Wang, X., Yang, Q., Liu, L., & He, G. (2020). Novel mutations of TCTN3/LTBP2 with cellular function changes in congenital heart disease associated with polydactyly. Journal of Cellular and Molecular Medicine, 24(23), 13751–13762. Portico. https://doi.org/10.1111/jcmm.15950 DOI:10.1111/jcmm.15950 PMID:33098376
  2. Morlino, Alesi, V., Calì, F., Lepri, F. R., Secinaro, A., Grammatico, P., Novelli, A., Drago, F., Castori, M., & Baban, A. (2018). LTBP2-related “Marfan-like” phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant. American Journal of Medical Genetics Part A, 179(1), 104–112. Portico. https://doi.org/10.1002/ajmg.a.10 DOI:10.1002/ajmg.a.10 PMID:30565850