CTLA4 wt Allele

Preferred Label : CTLA4 wt Allele;

NCIt synonyms : CTLA4; Cytotoxic T-Lymphocyte-Associated Antigen 4 Gene; Cytotoxic T-Lymphocyte-Associated Protein 4 Gene; CD152 Gene; CD152 Antigen Gene; Cytotoxic T-Lymphocyte-Associated Serine Esterase-4 Gene; Cytotoxic T-Lymphocyte Protein 4 Gene; CTLA-4 Gene; ALPS5; CTLA-4; CELIAC3; IDDM12; GRD4; CD152; CD; GSE; Cytotoxic T Lymphocyte-Associated 4 Gene; Cytotoxic T-Lymphocyte Associated Protein 4 wt Allele; CTLA4-TM;

NCIt definition : Human CTLA4 wild-type allele is located within 2q33 and is approximately 6 kb in length. This allele, which encodes cytotoxic T-lymphocyte protein 4, is involved in signal transduction and T-cell regulation. Variant alleles generated from mutations in the gene, have been associated with insulin-dependent diabetes mellitus, Graves disease, Hashimoto thyroiditis, celiac disease, systemic lupus erythematosus, thyroid-associated orbitopathy, and other autoimmune diseases.;

GenBank Accession Number : NM_005214;

Details

Origin ID

C51345;

UMLS CUI

C1705969;

Automatic exact mappings (from CISMeF team)
- CTLA-4 antigen [MeSH Descriptor]
- Celiac disease [ORDO Disease]
- Celiac disease, susceptibility to, 3 [OMIM Phenotype]
- Clinical diagnosis (contextual qualifier) (qualifier value) [SNOMED CT concept]
- Cowden syndrome 1 [OMIM Phenotype]
- Crohn disease [ICD-11 Category]
- GSE [LOINC method]
- Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation [OMIM Phenotype]
- Type 1 diabetes mellitus 12 [OMIM Phenotype]
- candela (qualifier value) [SNOMED CT concept]
- central dorsal nucleus of thalamus [UBERON concept]
- chiroptic/chiroptical [IUPAC Term]
- circular dichroism [IUPAC Term]
- compact disks [MeSH Descriptor]
- diabetes mellitus, Insulin-Dependent, 12 [MeSH Supplementary Concept]
- dichroism [IUPAC Term]
- nucleotide binding oligomerization domain containing 2 [ORDO Gene]
- type 1 diabetes mellitus 12 [DO Concept]
Currated CISMeF NLP mapping
- Cytotoxic t lymphocyte-associated 4 [OMIM gene]
- cytotoxic T-lymphocyte associated protein 4 [ORDO Gene]
OMIM relation
- Cytotoxic t lymphocyte-associated 4 [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_associated_with_disease
- Celiac Disease [NCIt concept]
- Hypothyroidism [NCIt concept]
- Lung Non-Small Cell Carcinoma [NCIt concept]
- Psoriasis [NCIt concept]
- Type 1 Diabetes Mellitus [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 2: 204558017-204564189 [NCIt concept]
gene_in_chromosomal_location
- 2q33 [NCIt concept]
gene_is_element_in_pathway
- Autoimmune Thyroid Disease Pathway [NCIt concept]
- Calcineurin-Regulated NFAT-Dependent Transcription Pathway [NCIt concept]
- Cell Adhesion Molecule Signaling Pathway [NCIt concept]
- T Cell Receptor Signaling Pathway KEGG [NCIt concept]
- T-Cell Activation Co-Stimulatory Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Immune Response Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Receptor Signaling [NCIt concept]

Keyword's position in hierarchy(ies) :

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