HSPG2 wt Allele

Preferred Label : HSPG2 wt Allele;

NCIt synonyms : SJS1; Perlecan Proteoglycan Gene; SJS; PLC; Schwartz-Jampel Syndrome 1 (Chondrodystrophic Myotonia) Gene; PRCAN; Perlecan Gene; SJA; Heparan Sulfate Proteoglycan 2 wt Allele;

NCIt definition : Human HSPG2 wild-type allele is located within 1p36.1-p34 and is approximately 115 kb in length. This allele, which encodes basement membrane-specific heparan sulfate proteoglycan core protein, plays a role in both the structure of and cell interaction with the basement membrane. Mutation of the gene is associated with both Schwartz-Jampel syndrome and Silverman-Handmaker type dyssegmental dysplasia.;

NCIt note : Ensembl reports the HSPG2 gene is located in the vicinity of 1p36.12 and HGNC reports it within 1p36.1-p35.;

GenBank Accession Number : M85289;

Details

Origin ID

C95447;

UMLS CUI

C2987154;

Automatic exact mappings (from CISMeF team)
- Heparan sulfate proteoglycan of basement membrane [OMIM gene]
- MHC class I peptide loading complex [GO term]
- Schwartz-Jampel syndrome [ORDO Disease]
- Schwartz-jampel syndrome, type 1 [OMIM Phenotype]
- Vital capacity [LOINC component]
- heparan sulfate proteoglycan 2 [ORDO Gene]
- laryngeal cleft [MeSH Supplementary Concept]
- stevens-johnson syndrome [MeSH Descriptor]
- viral load [MeSH Descriptor]
- visual fields [MeSH Descriptor]
- vital capacity [MeSH Descriptor]
- vocal cords [MeSH Descriptor]
OMIM relation
- Heparan sulfate proteoglycan of basement membrane [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Schwartz-Jampel Syndrome [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- ECM-Receptor Interaction Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Angiogenic Process [NCIt concept]
- Cell Adhesion Process [NCIt concept]
- Cell Growth [NCIt concept]
- Cell Movement [NCIt concept]
- Morphogenesis [NCIt concept]
- Organogenesis [NCIt concept]
- Wound Repair [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients