GPC4 wt Allele

Preferred Label : GPC4 wt Allele;

NCIt synonyms : K-Glypican Gene; DJ900E8.1 (Glypican 4) Gene; Glypican 4 wt Allele; KPTS; UNQ474/PRO937;

NCIt definition : Human GPC4 wild-type allele is located in the vicinity of Xq26.2 and is approximately 115 kb in length. This allele, which encodes glypican-4 protein, is involved in proteoglycan binding, cellular branch morphogenesis and synapse formation. Mutation of the gene is associated with Keipert syndrome.;

NCI Metathesaurus CUI : CL1643061;

GenBank Accession Number : AF030186;

Details

Origin ID

C177296;

UMLS CUI

C5443966;

Automatic exact mappings (from CISMeF team)
- Keipert syndrome [DO Concept]
- Keipert syndrome [OMIM Phenotype]
OMIM relation
- Glypican 4 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Xq26.2 [NCIt concept]
gene_is_element_in_pathway
- Wnt Signaling Pathway KEGG [NCIt concept]
gene_plays_role_in_process
- Heparan Sulfate Biosynthesis [NCIt concept]
- Ligand Binding [NCIt concept]

Keyword's position in hierarchy(ies) :

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