FAS wt Allele - CISMeF

Preferred Label : FAS wt Allele;

NCIt synonyms : CD95; TNFRSF6 Gene; TNFRSF6; Fas Cell Surface Death Receptor wt Allele; FASTM; APO-1; APT1; FAS1; ALPS1A; TNFRSF6 wt Allele; Tumor Necrosis Factor Receptor Superfamily, Member 6 Gene; Fas (TNF Receptor Superfamily, Member 6) Gene;

NCIt definition : Human FAS wild-type allele is located in the vicinity of 10q24.1 and is approximately 26 kb in length. This allele, which encodes tumor necrosis factor receptor superfamily member 6 protein, plays a role in the initiation of the caspase processing cascade that leads to programmed cell death. Mutations in the gene are related to autoimmune lymphoproliferative syndrome type 1A, burn scar-related squamous cell carcinoma and lung cancer susceptibility.;

NCIt note : The FAS gene is expressed as six isoforms that are produced by alternative splicing. One isoform has a transmembrane domain and the other five are secreted isoforms. (SwissProt);

GenBank Accession Number : NM_000043;

Details

Origin ID

C51383;

UMLS CUI

C1705955;

OMIM relation
- Fas cell surface death receptor [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_abnormality
- FAS Gene Mutation [NCIt concept]
gene_in_chromosomal_location
- 10q24.1 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Autoimmune Lymphoproliferative Syndrome with FAS Mutation [NCIt concept]
gene_is_element_in_pathway
- Allograft Rejection Pathway [NCIt concept]
- Alzheimer's Disease Pathway KEGG [NCIt concept]
- Antigen Dependent B Cell Activation Pathway [NCIt concept]
- Apoptosis Pathway [NCIt concept]
- Autoimmune Thyroid Disease Pathway [NCIt concept]
- Bystander B Cell Activation Pathway [NCIt concept]
- CTL-mediated Immune Response Pathway [NCIt concept]
- Cell Cycle Progression Pathway [NCIt concept]
- Chagas Disease Pathway [NCIt concept]
- Cytokine-Cytokine Receptor Signaling Pathway [NCIt concept]
- Fas Signaling Pathway BioCarta [NCIt concept]
- Graft-Versus-Host Disease Pathway [NCIt concept]
- HIV Induced T Cell Apoptosis Pathway [NCIt concept]
- HIV-I Nef in Apoptosis Pathway [NCIt concept]
- HSP27 Regulation Pathway [NCIt concept]
- IL2RB Pathway [NCIt concept]
- Keratinocyte Differentiation Pathway [NCIt concept]
- MAPK Signaling Pathway [NCIt concept]
- Natural Killer Cell-Mediated Cytotoxicity Pathway [NCIt concept]
- PML Transcription Regulation Pathway [NCIt concept]
- Type I Diabetes Mellitus Pathway [NCIt concept]
- p53 Signaling Pathway KEGG [NCIt concept]
gene_plays_role_in_process
- Apoptosis [NCIt concept]
- Cell Death Signaling Process [NCIt concept]
- Cell Survival [NCIt concept]
- Cytokine Signaling [NCIt concept]
- Cytokine Signaling Process [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Receptor Signaling [NCIt concept]
- Tumor Necrosis Factor Signaling Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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