MERTK wt Allele

Preferred Label : MERTK wt Allele;

NCIt synonyms : MER; MERK; MERTK; C-MER Proto-Oncogene Tyrosine Kinase wt Allele; c-mer;

NCIt definition : Human MERTK wild-type allele is located in the vicinity of 2q14.1 and is approximately 131 kb in length. This allele, which encodes proto-oncogene tyrosine-protein kinase MER protein, plays a role in tissue homeostasis and receptor signaling. Mutations in the gene have been associated with disruption of the retinal pigment epithelium phagocytosis pathway and onset of autosomal recessive retinitis pigmentosa.;

GenBank Accession Number : NM_006343;

Details

Origin ID

C52175;

UMLS CUI

C1706554;

OMIM relation
- Mer tyrosine kinase protooncogene [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_in_chromosomal_location
- 2q14.1 [NCIt concept]
gene_plays_role_in_process
- Intercellular Communication Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Phagocytosis [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Receptor Signaling [NCIt concept]
- Tyrosine Phosphorylation [NCIt concept]

Keyword's position in hierarchy(ies) :

Main resources

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