LTBP2 wt Allele

Preferred Label : LTBP2 wt Allele;

NCIt synonyms : LTBP3; Latent Transforming Growth Factor Beta Binding Protein 2 wt Allele; WMS3; C14orf141; GLC3D; Chromosome 14 Open Reading Frame 141 Gene; MSPKA; MSTP031;

NCIt definition : Human LTBP2 wild-type allele is located within 14q24 and is approximately 114 kb in length. This allele, which encodes latent transforming growth factor beta-binding protein 2 protein, plays a role in microfibril structure and cellular adhesion.;

GenBank Accession Number : NM_000428;

Details

Origin ID

C51270;

UMLS CUI

C1708628;

OMIM relation
- Latent transforming growth factor-beta-binding protein 2 [OMIM gene]
See also inter- (CISMeF)
- Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Melanoma [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 14: 74148787-74034640 [NCIt concept]
gene_in_chromosomal_location
- 14q24 [NCIt concept]
gene_plays_role_in_process
- Intercellular Communication Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Protein-Protein Interaction [NCIt concept]

Keyword's position in hierarchy(ies) :

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