MERTK MER proto-oncogene, tyrosine kinase
Gene ID: 10461, updated on 11-Apr-2024Gene type: protein coding
Also known as: MER; RP38; c-Eyk; c-mer; Tyro12
- See all available tests in GTR for this gene
- Go to complete Gene record for MERTK
- Go to Variation Viewer for MERTK variants
Summary
This gene is a member of the MER/AXL/TYRO3 receptor kinase family and encodes a transmembrane protein with two fibronectin type-III domains, two Ig-like C2-type (immunoglobulin-like) domains, and one tyrosine kinase domain. Mutations in this gene have been associated with disruption of the retinal pigment epithelium (RPE) phagocytosis pathway and onset of autosomal recessive retinitis pigmentosa (RP). [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. GeneReviews: Not available | |
| Genome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection. GeneReviews: Not available | |
| Retinitis pigmentosa 38 | See labs |
Genomic context
- Location:
- 2q13
- Sequence:
- Chromosome: 2; NC_000002.12 (111898607..112029561)
- Total number of exons:
- 19
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MERTK variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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