KLK3 wt Allele

Preferred Label : KLK3 wt Allele;

NCIt synonyms : PSA; Kallikrein 3, (Prostate Specific Antigen) wt Allele; hK3; KLK2A1; APS;

NCIt definition : Human KLK3 wild-type allele is located in the vicinity of 19q13.41 and is approximately 6 kb in length. This allele, which encodes prostate-specific antigen protein, plays a role in the liquefaction of seminal coagulum via hydrolysis of semenogelin-1. An allelic variant of KLK3 is associated with increased risk of prostate cancer onset in males under the age of 67. Overexpression of the KLK3 gene is strongly associated with prostate cancer.;

GenBank Accession Number : NM_001648;

Détails

Origin ID

C49721;

UMLS CUI

C1705954;

Automatic exact mappings (from CISMeF team)
- Aminopeptidase, puromycin-sensitive [OMIM gene]
- Autoimmune polyendocrine syndrome, type I, with or without reversible metaphyseal dysplasia [OMIM Phenotype]
- Autoimmune polyendocrine syndrome, type II [OMIM Phenotype]
- Autoimmune polyendocrinopathy [ORDO Disease]
- Autoimmune polyendocrinopathy (disorder) [SNOMED CT concept]
- Hexokinase 3 [OMIM gene]
- Hook microtubule tethering protein 3 [OMIM gene]
- Kallikrein-related peptidase 3 [OMIM gene]
- PSA [MedDRA LLT]
- Pathology diagnosis (contextual qualifier) (qualifier value) [SNOMED CT concept]
- Peeling skin syndrome 2 [OMIM Phenotype]
- Prostate specific antigen positive [ICD-11 Sub-sub category]
- Prostate-Specific antigen [MeSH Descriptor]
- Prostatic specific antigen [MedDRA Preferred Term]
- Protein s [OMIM gene]
- Sh2b adaptor protein 2 [OMIM gene]
- anterior parolfactory sulcus [UBERON concept]
- phosphoserine aminotransferase 1 [ORDO Gene]
- polysialic acid [MeSH Supplementary Concept]
- protein histidine tele-kinase activity [GO term]
- surgical flaps [MeSH Descriptor]
False automatic mappings
- Antiphospholipid syndrome [ORDO Disease]
- Musical perfect pitch [OMIM Phenotype]
- Salivary gland adenoma, pleomorphic [OMIM Phenotype]
OMIM relation
- Kallikrein-related peptidase 3 [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_physical_location
- 19: 56049983-56055832 [NCIt concept]
gene_in_chromosomal_location
- 19q13.41 [NCIt concept]
gene_is_biomarker_of
- Prostate Carcinoma [NCIt concept]
gene_is_element_in_pathway
- Androgen Receptor Regulation Pathway [NCIt concept]
- Antigen Presentation Pathway [NCIt concept]
- Coregulation Pathway for Androgen Receptor Activity [NCIt concept]
- FOXA1 Transcription Factor Signaling Pathway [NCIt concept]
- Prostate Cancer Pathway [NCIt concept]
gene_plays_role_in_process
- Hydrolysis [NCIt concept]
- Proteolysis [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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