MERTK Chromosome 2
MER proto-oncogene, tyrosine kinase
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What This Gene Does
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]
Gene Info
Gene Group
"Receptor tyrosine kinases|Fibronectin type III domain containing|I-set domain containing"
Locus Type
gene with protein product
Location
2q13
Ensembl
ENSG00000153208
Associated Conditions (27)
Retinal dystrophy
Retinitis pigmentosa
Retinitis pigmentosa 38
MERTK-related disorder
Inborn genetic diseases
Optic atrophy
Familial pancreatic carcinoma
Lymphoma
Adrenocortical carcinoma
hereditary
Ovarian cancer
Chronic lymphocytic leukemia/small lymphocytic lymphoma
Sarcoma
Nonpapillary renal cell carcinoma
Cervical cancer
Uterine carcinosarcoma
Thymoma
Thyroid cancer
nonmedullary
1
+7 more conditions
Key Variants
RS112257146
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS112541306
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS113485015
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS1265437249
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS1309440527
Conflicting classifications of pathogenicity
Health Risk
RS1323896467
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS1342715176
Conflicting classifications of pathogenicity
Retinitis pigmentosa 38, Retinitis pigmentosa 38
Health Risk
RS138908058
Conflicting classifications of pathogenicity
Retinitis pigmentosa, MERTK-related disorder, Retinitis pigmentosa
Health Risk
RS141361084
Conflicting classifications of pathogenicity
Retinitis pigmentosa 38, Retinal dystrophy, Retinal dystrophy
Health Risk
RS141647333
Conflicting classifications of pathogenicity
Inborn genetic diseases, MERTK-related disorder, Inborn genetic diseases
Health Risk
RS142985827
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa
Health Risk
RS144751432
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Optic atrophy, Retinitis pigmentosa
Health Risk
All Variants (139)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2466746923 | Health Risk | Pathogenic | — |
| RS2466747123 | Health Risk | Pathogenic | — |
| RS2466777309 | Health Risk | Pathogenic | — |
| RS2466781016 | Health Risk | Pathogenic | — |
| RS2466815026 | Health Risk | Pathogenic | — |
| RS2466843671 | Health Risk | Pathogenic | — |
| RS2466880893 | Health Risk | Pathogenic | — |
| RS2466889355 | Health Risk | Pathogenic | — |
| RS2466916908 | Health Risk | Pathogenic | — |
| RS2466928884 | Health Risk | Pathogenic | — |
| RS371956016 | Health Risk | Pathogenic | Retinitis pigmentosa 38, Inborn genetic diseases, Retinal dystrophy |
| RS372527246 | Health Risk | Pathogenic | Retinal dystrophy, Retinitis pigmentosa 38, Retinal dystrophy |
| RS387907314 | Health Risk | Pathogenic | Retinitis pigmentosa 38, Autosomal recessive retinitis pigmentosa, Retinal dystrophy |
| RS527236083 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa 38 |
| RS730880273 | Health Risk | Pathogenic | Retinitis pigmentosa 38, Retinal dystrophy, Retinitis pigmentosa 38 |
| RS746238212 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa |
| RS746291728 | Health Risk | Pathogenic | Retinitis pigmentosa 38, Retinal dystrophy, Retinitis pigmentosa 38 |
| RS746671363 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS756229364 | Health Risk | Pathogenic | Retinitis pigmentosa 38, Retinitis pigmentosa 38 |
| RS777350533 | Health Risk | Pathogenic | — |
| RS779211043 | Health Risk | Pathogenic | Retinitis pigmentosa 38, Retinitis pigmentosa 38 |
| RS780007963 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS786205533 | Health Risk | Pathogenic | Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa 38, Autosomal recessive retinitis pigmentosa |
| RS786205534 | Health Risk | Pathogenic | Retinitis pigmentosa 38, Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa 38 |
| RS868566811 | Health Risk | Pathogenic | Retinitis pigmentosa 38, Retinitis pigmentosa 38 |
| RS886039422 | Health Risk | Pathogenic | Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa 38, Autosomal recessive retinitis pigmentosa |
| RS890258715 | Health Risk | Pathogenic | Autosomal recessive retinitis pigmentosa, Retinal dystrophy, Autosomal recessive retinitis pigmentosa |
| RS911057284 | Health Risk | Pathogenic | Autosomal recessive retinitis pigmentosa, Autosomal recessive retinitis pigmentosa |
| RS1573613491 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 38, MERTK-related disorder, Retinitis pigmentosa 38 |
| RS2104733978 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2466781317 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 38, Retinitis pigmentosa 38 |
| RS772421550 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa 38 |
| RS774577413 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 38, Retinitis pigmentosa, Retinitis pigmentosa 38 |
| RS774755041 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS775776288 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinitis pigmentosa 38, Retinal dystrophy |
| RS776644374 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 38, Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa 38 |
| RS878853353 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinitis pigmentosa, Retinal dystrophy |
| RS878853354 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinitis pigmentosa, Retinal dystrophy |
| RS978833430 | Health Risk | Pathogenic/Likely pathogenic | — |