SH3PXD2B wt Allele

Preferred Label : SH3PXD2B wt Allele;

NCIt synonyms : FAD49; SH3 and PX Domains 2B wt Allele; FLJ20831; TKS4; FTHS; KIAA1295; TSK4; HOFI;

NCIt definition : Human SH3PXD2B wild-type allele is located in the vicinity of 5q35.1 and is approximately 129 kb in length. This allele, which encodes SH3 and PX domain-containing protein 2B, plays a role in podosome assembly. Mutation of the gene is associated with Frank-Ter Haar syndrome.;

GenBank Accession Number : AK095834;

Details

Origin ID

C119650;

UMLS CUI

C3890186;

Automatic exact mappings (from CISMeF team)
- Frank-Ter Haar syndrome [DO Concept]
- Frank-ter haar syndrome [OMIM Phenotype]
- SH3 and PX domains 2B [ORDO Gene]
- Sh3 and px domains-containing protein 2b [OMIM gene]
OMIM relation
- Sh3 and px domains-containing protein 2b [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 5q35.1 [NCIt concept]
gene_plays_role_in_process
- Extracellular Matrix Degradation [NCIt concept]
- Free Radical Process [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Receptor Signaling [NCIt concept]
- Regulation of Cell Shape [NCIt concept]
- Signal Transduction [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]

Keyword's position in hierarchy(ies) :

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