Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol MERTK contributors: mct/shn - updated : 12-10-2010
HGNC name c-mer proto-oncogene tyrosine kinase
HGNC id 7027
Corresponding disease
RPMR retinitis pigmentosa, MERTK related
Location 2q13      Physical location : 112.656.190 - 112.786.945
Synonym name
  • MER receptor tyrosine kinase
  • receptor tyrosine kinase MerTK
  • STK kinase
  • proto-oncogene c-Mer
  • Synonym symbol(s) MER, c-mer, RP38, MGC133349
    EC.number 2.7.10.1
    DNA
    TYPE functioning gene
    STRUCTURE 130.76 kb     19 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - D2S1888 - D2S1892 - MERTK - D2S1896 - D2S2269 - qter
    Physical map
    LOC391424 2 similar to ribosomal protein L22 LOC391425 2 similar to heparin-binding protein HBp15 BUB1 2q14 BUB1 budding uninhibited by benzimidazoles 1 homolog (yeast) LOC339693 2q13 hypothetical LOC339693 FLJ11042 2q13 hypothetical protein FLJ11042 BCL2L11 2q13 BCL2-like 11 (apoptosis facilitator) LOC391426 2 similar to ENSANGP00000004103 ANAPC1 2q12.1 anaphase-promoting complex 1 (meiotic checkpoint regulator) MERTK 2q14.1 c-mer proto-oncogene tyrosine kinase FLJ14681 2q13 hypothetical protein FLJ14681 FLJ37440 2q13 hypothetical protein FLJ37440 LOC84524 2q13 zinc finger protein FLJ41410 2q13 FLJ41410 protein LOC389020 2 similar to RAN-binding protein 2-like 1 isoform 1; sperm membrane protein BS-63; RAN-binding protein 2-like 1 TTL 2q13 similar to RAN-binding protein 2-like 1 isoform 1; sperm membrane protein BS-63; RAN-binding protein 2-like 1 POLR1B 2q13 polymerase (RNA)1polypeptide B, 128kDa C2orf9 2q13 chromosome 2 open reading frame 9 SLC20A1 2q11-q14 solute carrier family 20 (phosphate transporter), member 1 FLJ40629 2q14.1 hypothetical protein FLJ40629 IL1A 2q13 interleukin 1, alpha IL1B 2q13 interleukin 1, beta IL1F7 2q12.1-q14.1 interleukin 1 family, member 7 (zeta) IL1F9 2q13 interleukin 1 family, member 9 IL1F6 2q12-q14.1 interleukin 1 family, member 6 (epsilon) IL1F8 2q12-q14.1 interleukin 1 family, member 8 (eta) IL1F5 2q12.1 interleukin 1 family, member 5 (delta) IL1F10 2q12 interleukin 1 family, member 10 (theta) IL1RN 2q13-q14.2 interleukin 1 receptor antagonist TIC 2q13 interleukin 1 receptor antagonist PAX8 2q12-q14 paired box gene 8 LOC391427 2 similar to Ig kappa chain precursor V region (orphon V108) - human  (fragment) CBWD2 2q13 COBW domain containing 2
    RNA
    TRANSCRIPTS type messenger
    text one alternative transcript with an insert in the membrane proximal region encoding for a truncated form
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    19 - 3632 - 999 - -
    EXPRESSION
    Rna function retinal pigmentary epithelium and macrophages
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  lowly Homo sapiens
     liver   lowly Homo sapiens
    Lymphoid/Immunespleen   lowly Homo sapiens
     thymus   lowly Homo sapiens
    Reproductivefemale systemovary  highly Homo sapiens
     female systemplacenta  moderately Homo sapiens
     male systemtestis  highly Homo sapiens
     male systemprostate  moderately Homo sapiens
    Respiratorylung   highly Homo sapiens
    Urinarykidney   highly Homo sapiens
    Visualeyeretina  highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningretinal pigment epithelium (RPE)   Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte Homo sapiens
    Blood/Hematopoieticmonocyte
    Visualepithelial cell
    cell lineage cells of reproductive origin
    cell lines neoplastic B and T cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N glycosylation sites
  • two Ig-like C2-type (immunoglobulin-like) domains
  • two fibronectin type III domains
  • one tyrosine kinase domain
  • HOMOLOGY
    interspecies ortholog to Mertk, Rattus norvegicus
    ortholog to Mertk, Mus musculus
    ortholog to MERTK, Pantroglodytes
    ortholog to mertk, Danio rerio
    Homologene
    FAMILY
  • MER/AXL/TYRO3 receptor kinase family
  • TAM receptor tyrosine kinase (RTK) subfamily
  • CATEGORY enzyme , regulatory , protooncogene , receptor membrane
    SUBCELLULAR LOCALIZATION     plasma membrane
    text transmembrane protein
    basic FUNCTION
  • participates in an inhibitory pathway in macrophages important for regulating TNF-alpha secretion and attenuating endotoxic shock
  • critical for the engulfment and efficient clearance of apoptotic cells
  • plays an essential immunoregulatory role
  • an integral component of the retinal pigmentary epithelium phagocytic process tnat triggers ingestion of bound outer segments
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS immunity/defense
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP
  • protein
  • growth arrest-specific gene 6, GAS6 (
  • C-terminal region of the guanine nucleotide-exchange factor (GEF) V,av1 (
  • TULP1 interacts with TYRO3, AXL and MERTK of the TAM receptor tyrosine kinase subfamily, whereas tubby binds only to MERTK (
  • tubby and TULP1 are new MERTK ligands and facilitate phagocytosis in a MERTK-dependent manner (
  • cell & other
    REGULATION
    activated by growth arrest-specific gene 6, GAS6 and protein S
    TUB and TULP1 potentially (activation induced by tubby and TULP1 facilitate MERTK-dependent cytoskeletal reorganization)
    Other cleaved in the extracellular domain via a metalloproteinase
    ASSOCIATED DISORDERS
    corresponding disease(s) RPMR
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    may reflect an increased demand for removal of apoptotic cells in smokers, an observation with implications for the development of chronic obstructive pulmonary disease, a disorder associated with dysregulated apoptosis of lung parenchymal cells
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    bloodcoagulation 
    potential therapeutic use for soluble MERTK in the treatment of clotting disorders
    ANIMAL & CELL MODELS
  • mice that lack the Merk signaling tyrosine kinase domain exhibit edema, leukocyte infiltration, and signs of endotoxic shock then die of endotoxic shock
  • viral gene transfer of Mertk to a RCS rat retina can correct both functional cellular defect (phagocytosis) and photoreceptor degeneration
  • mutation of the Mertk in Royal College of Surgeons (RCS) rat leads to retinal degeneration in which the RPE fails to phagocytose shed outer segments
  • mer(kd) mice with a cytoplasmic truncation of Mer have macrophages deficient in the clearance of apoptotic thymocytes
  • mice with disruption of Mertk gene manifest a retinal dystrophy phenotype similar to RCS rats
  • MerTK-deficient mice develop retinal degeneration due to defective RPE phagocytosis, whereas ablation of Axl or Tyro3 appears to have minimal impact on retinal homeostasis