Entity Details

Primary name MERTK
Entity type gene
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Details

PrimaryID10461
RefseqGeneNG_011607
SymbolMERTK
NameMER proto-oncogene, tyrosine kinase
Chromosome2
Location2q13
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-06-23
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsMERTK_HUMAN

GO terms

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GOName
GO:0001750 photoreceptor outer segment
GO:0001779 natural killer cell differentiation
GO:0001818 negative regulation of cytokine production
GO:0004714 transmembrane receptor protein tyrosine kinase activity
GO:0005524 ATP binding
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006468 protein phosphorylation
GO:0006909 phagocytosis
GO:0007166 cell surface receptor signaling pathway
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway
GO:0007267 cell-cell signaling
GO:0007275 multicellular organism development
GO:0007283 spermatogenesis
GO:0007399 nervous system development
GO:0016028 rhabdomere
GO:0016477 cell migration
GO:0030168 platelet activation
GO:0032940 secretion by cell
GO:0033674 positive regulation of kinase activity
GO:0034446 substrate adhesion-dependent cell spreading
GO:0043235 receptor complex
GO:0043491 protein kinase B signaling
GO:0050766 positive regulation of phagocytosis
GO:0050900 leukocyte migration
GO:0051250 negative regulation of lymphocyte activation
GO:0060041 retina development in camera-type eye
GO:0060068 vagina development
GO:0097350 neutrophil clearance
GO:2000107 negative regulation of leukocyte apoptotic process

Diseases

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Disease IDSourceNameDescription
613862 OMIMRetinitis pigmentosa 38 (RP38)A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. The disease is caused by variants affecting the gene represented in this entry.