Amphiphysin - CISMeF

Preferred Label : Amphiphysin;

NCIt synonyms : Stiff-Mann Syndrome with Breast Cancer 128kD Autoantigen; Amp; AMPH;

NCIt definition : Amphiphysin (695 aa, 76 kDa) is encoded by the human AMPH gene. This protein may be involved in both exocytosis and cytoskeletal arrangement.;

Alternative definition : CDISC: An antigen encoded by the AMPH gene that is involved in both exocytosis and cytoskeletal arrangement. It can be considered as a neuronal autoantigen and is commonly associated with autoimmune neurodegenerative disorders related to cancer, such as paraneoplastic neurologic syndrome.;

Details

Origin ID

C20973;

UMLS CUI

C1458148;

Automatic exact mappings (from CISMeF team)
- Amphiphysin [OMIM gene]
False automatic mappings
- Adenylic acid (substance) [SNOMED CT concept]
- Ampere (qualifier value) [SNOMED CT concept]
- Ampule - unit of product usage (qualifier value) [SNOMED CT concept]
- adenosine 2'-phosphate hemihydrate [Substance BNPC]
- adenosine monophosphate [MeSH Descriptor]
- adenosine monophosphate [MeSH concept]
- adenosine phosphate [Substance BNPC]
OMIM relation
- Amphiphysin [OMIM gene]
See also inter- (CISMeF)
- amphiphysin [HGNC gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
concept_is_in_subset
- CDISC SDTM Binding Agent for Immunogenicity Tests Terminology [NCIt concept]
- CDISC SDTM Terminology [NCIt concept]
- Clinical Data Interchange Standards Consortium Terminology [NCIt concept]
gene_encodes_gene_product
- AMPH Gene [NCIt concept]
- Regulatory Gene [NCIt concept]
gene_product_expressed_in_tissue
- Endocrine Gland [NCIt concept]
- Neuron [NCIt concept]
- Spermatocyte [NCIt concept]
gene_product_has_associated_anatomy
- Plasma Membrane [NCIt concept]
gene_product_has_biochemical_function
- Regulatory Protein [NCIt concept]
gene_product_has_structural_domain_or_motif
- SH3 Domain [NCIt concept]
gene_product_plays_role_in_biological_process
- Exocytosis [NCIt concept]
- Neuronal Transmission [NCIt concept]

Keyword's position in hierarchy(ies) :

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