Limbin - CISMeF

Preferred Label : Limbin;

NCIt synonyms : EvC Ciliary Complex Subunit 2; EVC2; Ellis-Van Creveld Syndrome Protein 2; EvC Complex Member EVC2;

NCIt definition : Limbin (1308 aa, 148 kDa) is encoded by the human EVC2 gene. This protein is involved in skeletal development and the ciliary hedgehog signaling pathway.;

Details

Origin ID

C201110;

UMLS CUI

C1175866;

OMIM relation
- Evc ciliary complex subunit 2 [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- EVC2 protein, human [MeSH Supplementary Concept]
- EVC2 protein, human [MeSH concept]
gene_encodes_gene_product
- EVC2 Gene [NCIt concept]
- Signaling Pathway Gene [NCIt concept]
gene_product_has_associated_anatomy
- Cilium [NCIt concept]
- Cytoplasm [NCIt concept]
- Cytoskeleton [NCIt concept]
- Plasma Membrane [NCIt concept]
gene_product_has_chemical_classification
- Transmembrane Protein [NCIt concept]
gene_product_has_structural_domain_or_motif
- Coiled-Coil Domain [NCIt concept]
- Transmembrane Domain [NCIt concept]
gene_product_is_element_in_pathway
- Hedgehog Signaling Pathway [NCIt concept]
gene_product_plays_role_in_biological_process
- Bone Formation Stimulation [NCIt concept]
- Embryogenesis [NCIt concept]
- Myogenesis [NCIt concept]
- Signal Transduction [NCIt concept]
- Skeletal Development [NCIt concept]

Keyword's position in hierarchy(ies) :

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