MERTK

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MERTK
Protein MERTK PDB 2dbj.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases MERTK, MER, RP38, c-mer, Tyro12, c-Eyk, MER proto-oncogene, tyrosine kinase
External IDs MGI: 96965 HomoloGene: 4626 GeneCards: MERTK
Gene location (Human)
Chromosome 2 (human)
Chr. Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for MERTK
Genomic location for MERTK
Band 2q13 Start 111,898,479 bp[1]
End 112,029,561 bp[1]
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_006343

NM_008587

RefSeq (protein)

NP_006334

NP_032613

Location (UCSC) Chr 2: 111.9 – 112.03 Mb Chr 2: 128.7 – 128.8 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Proto-oncogene tyrosine-protein kinase MER is an enzyme that in humans is encoded by the MERTK gene.[5][6][7]

Function

This gene is a member of the TYRO3/AXL/MER (TAM) 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).[7]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000153208 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000014361 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ Graham DK, Dawson TL, Mullaney DL, Snodgrass HR, Earp HS (June 1994). "Cloning and mRNA expression analysis of a novel human protooncogene, c-mer". Cell Growth & Differentiation. 5 (6): 647–57. PMID 8086340.
  6. ^ Weier HU, Fung J, Lersch RA (Jun 1999). "Assignment of protooncogene MERTK (a.k.a. c-mer) to human chromosome 2q14.1 by in situ hybridization". Cytogenetics and Cell Genetics. 84 (1–2): 91–2. doi:10.1159/000015223. PMID 10343112.
  7. ^ a b "Entrez Gene: MERTK c-mer proto-oncogene tyrosine kinase".

Further reading

External links

  • GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview


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