MER Tyrosine Kinase Protooncogene

Alternative Names

  • MERTK

Associated Diseases

Retinitis Pigmentosa 38
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OMIM Number

604705

NCBI Gene ID

10461

Uniprot ID

Q12866

Length

141,475 bases

No. of Exons

19

No. of isoforms

1

Protein Name

Tyrosine-Protein Kinase MER

Molecular Mass

110249 Da

Amino Acid Count

999

Genomic Location

chr2:111,898,606-112,029,560

Gene Map Locus
2q13

Description

The MER Tyrosine Kinase Protooncogene (MERTK) codes for a transmembrane receptor tyrosine kinase that plays a key role in physiological renewal of outer segments of photoreceptors.  These outer segments constantly shed debris in response to light exposure, which in turn leads to the accumulation of toxic debris within the retinal pigment epithelium (RPE).  Phagocytosis of photoreceptors is therefore, crucial to maintain healthy retinal function.  MERTK is known to play a role in the RPE in processes such as macrophage clearance of apoptotic cells, platelet aggregation, cytoskeleton reorganization and engulfment, and as a regulator of rod outer segments fragments phagocytosis. 

Mutations in the MERTK gene are known to result in a form of Retinitis Pigmentosa (RP38), characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors.  In addition, overexpression of MERTK has also been implicated in oncogenesis.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
MERTK, 9-KB DELArab; Saudi ArabiaPathogenicPathogenicRetinitis Pigmentosa 3837302
NM_006343.3:c.1335_1336delAGSaudi Arabiachr2:111994289-111994290PathogenicPathogenicRetinitis Pigmentosa 38NG_011607.1:g.100676_100677delAG; NM_006343.3:c.1335_1336delAG; NP_006334.2:p.Ala446SerfsTer28979013
NM_006343.3:c.1951C>TLebanonchr2:112008466PathogenicPathogenicRetinitis Pigmentosa 38NG_011607.1:g.114853C>T; NM_006343.3:c.1951C>T; NP_006334.2:p.Arg651Ter1194891055402
NM_006343.3:c.2079+2T>GLebanonchr2:112010068PathogenicPathogenicRetinitis Pigmentosa 38NG_011607.1:g.116455T>G979014
NM_006343.3:c.2189+1G>TMoroccochr2:112019523PathogenicPathogenicRetinitis Pigmentosa 38NG_011607.1:g.125910G>T; NM_006343.3:c.2189+1G>T3719560165403
NM_006343.3:c.2214delUnited Arab EmiratesNC_000002.12:g.112021446delPathogenicLikely Pathogenic, PathogenicRetinitis Pigmentosa 38NG_011607.1:g.127833del; NM_006343.3:c.2214del; NP_006334.2:p.Cys738TrpfsTer32886039422265244
NM_006343.3:c.2323C>TMoroccochr2:112021555PathogenicPathogenicRetinitis Pigmentosa 38NG_011607.1:g.127942C>T; NM_006343.3:c.2323C>T; NP_006334.2:p.Arg775Ter38790731437305
NM_006343.3:c.721C>TUnited Arab EmiratesNC_000002.12:g.111947531C>TLikely PathogenicRetinitis Pigmentosa 38NG_011607.1:g.53918C>T; NM_006343.3:c.721C>T; NP_006334.2:p.Gln241Ter
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