GenTIGS

MER proto-oncogene, tyrosine kinase (MERTK) Associated conditions: 1. Retinitis pigmentosa

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_006343.3	NP_006334.2	NC_000002.12	(111898606..112029560)	Reference GRCh38.p14 Primary Assembly	-

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1197 reference articles

Variant Information MER proto-oncogene, tyrosine kinase (MERTK) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

GO Term of MER proto-oncogene, tyrosine kinase (MERTK)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IEA	enables	nucleotide binding	Function	-
2	Homo sapiens	IEA	located_in	photoreceptor outer segment	Component	-
3	Homo sapiens	IEA	enables	protein kinase activity	Function	-
4	Homo sapiens	IEA	enables	protein tyrosine kinase activity	Function	-
5	Homo sapiens	IBA	enables	transmembrane receptor protein tyrosine kinase activity	Function	-
6	Homo sapiens	IEA	enables	transmembrane receptor protein tyrosine kinase activity	Function	-
7	Homo sapiens	TAS	enables	transmembrane receptor protein tyrosine kinase activity	Function	8086340
8	Homo sapiens	IPI	enables	protein binding	Function	20103767
9	Homo sapiens	IEA	enables	ATP binding	Function	-
10	Homo sapiens	IDA	located_in	extracellular space	Component	18395422
11	Homo sapiens	IDA	located_in	cytoplasm	Component	18395422 19204785
12	Homo sapiens	IBA	is_active_in	plasma membrane	Component	-
13	Homo sapiens	IDA	located_in	plasma membrane	Component	-
14	Homo sapiens	IEA	located_in	plasma membrane	Component	-
15	Homo sapiens	TAS	located_in	plasma membrane	Component	8086340
16	Homo sapiens	TAS	involved_in	protein phosphorylation	Process	8086340
17	Homo sapiens	IBA	involved_in	phagocytosis	Process	-
18	Homo sapiens	IEA	involved_in	phagocytosis	Process	-
19	Homo sapiens	IMP	involved_in	phagocytosis	Process	19204785
20	Homo sapiens	TAS	involved_in	cell surface receptor signaling pathway	Process	8086340
21	Homo sapiens	IBA	involved_in	cell surface receptor protein tyrosine kinase signaling pathway	Process	-
22	Homo sapiens	TAS	involved_in	cell-cell signaling	Process	8086340
23	Homo sapiens	IBA	involved_in	nervous system development	Process	-
24	Homo sapiens	IEA	enables	kinase activity	Function	-
25	Homo sapiens	IBA	involved_in	cell migration	Process	-
26	Homo sapiens	IEA	enables	transferase activity	Function	-
27	Homo sapiens	IBA	part_of	receptor complex	Component	-
28	Homo sapiens	IDA	involved_in	positive regulation of phagocytosis	Process	18395422
29	Homo sapiens	IEA	involved_in	positive regulation of phagocytosis	Process	-
30	Homo sapiens	IMP	involved_in	negative regulation of leukocyte apoptotic process	Process	23353780