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MERTK Gene

protein-coding   GIFtS: 72
GCID: GC02P112656

C-Mer Proto-Oncogene Tyrosine Kinase

  See MERTK-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
C-Mer Proto-Oncogene Tyrosine Kinase1 2     c-mer2
Proto-Oncogene C-Mer2 3     MER Receptor Tyrosine Kinase2
Receptor Tyrosine Kinase MerTK2 3     STK Kinase2
MER2 3     Tyrosine-Protein Kinase Mer2
EC 2.7.10.13 8     EC 2.7.108
RP382 5     

External Ids:    HGNC: 70271   Entrez Gene: 104612   Ensembl: ENSG000001532087   OMIM: 6047055   UniProtKB: Q128663   

Export aliases for MERTK gene to outside databases

Previous GC identifers: GC02P109892 GC02P110577 GC02P112563 GC02P112751 GC02P112372 GC02P105169


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MERTK Gene:
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)

GeneCards Summary for MERTK Gene:
MERTK (c-mer proto-oncogene tyrosine kinase) is a protein-coding gene. Diseases associated with MERTK include mertk-related retinitis pigmentosa, and retinitis pigmentosa 38. GO annotations related to this gene include transmembrane receptor protein tyrosine kinase activity. An important paralog of this gene is AXL.

UniProtKB/Swiss-Prot: MERTK_HUMAN, Q12866
Function: Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by
binding to several ligands including LGALS3, TUB, TULP1 or GAS6. Regulates many physiological processes including
cell survival, migration, differentiation, and phagocytosis of apoptotic cells (efferocytosis). Ligand binding at
the cell surface induces autophosphorylation of MERTK on its intracellular domain that provides docking sites for
downstream signaling molecules. Following activation by ligand, interacts with GRB2 or PLCG2 and induces
phosphorylation of MAPK1, MAPK2, FAK/PTK2 or RAC1. MERTK signaling plays a role in various processes such as
macrophage clearance of apoptotic cells, platelet aggregation, cytoskeleton reorganization and engulfment.
Functions in the retinal pigment epithelium (RPE) as a regulator of rod outer segments fragments phagocytosis.
Plays also an important role in inhibition of Toll-like receptors (TLRs)-mediated innate immune response by
activating STAT1, which selectively induces production of suppressors of cytokine signaling SOCS1 and SOCS3

Gene Wiki entry for MERTK Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MERTK gene promoter:
         GR   Nkx3-1   Nkx3-1 v4   GR-beta   Nkx3-1 v1   AREB6   Nkx3-1 v2   Nkx3-1 v3   ZIC2/Zic2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMERTK promoter sequence
   Search Chromatin IP Primers for MERTK

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MERTK


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q14.1   Ensembl cytogenetic band:  2q13   HGNC cytogenetic band: 2q14.1

MERTK Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MERTK gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P112656:  view genomic region     (about GC identifiers)

Start:
112,656,056 bp from pter      End:
112,787,138 bp from pter
Size:
131,083 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MERTK_HUMAN, Q12866 (See protein sequence)
Recommended Name: Tyrosine-protein kinase Mer precursor  
Size: 999 amino acids; 110249 Da
Subunit: Interacts (upon activation) with TNK2; stimulates TNK2 autophosphorylation. Interacts (via N-terminus)
with extracellular ligands LGALS3, TUB, TULP1 and GAS6 (By similarity). Interacts with VAV1 in a
phosphotyrosine-independent manner
6 PDB 3D structures from and Proteopedia for MERTK:
2DBJ (3D)        2P0C (3D)        3BPR (3D)        3BRB (3D)        3TCP (3D)        4M3Q (3D)    
Secondary accessions: Q9HBB4

Explore the universe of human proteins at neXtProt for MERTK: NX_Q12866

Explore proteomics data for MERTK at MOPED

Post-translational modifications: 

  • Autophosphorylated on Tyr-749, Tyr-753 and Tyr-754 in the activation loop allowing full activity.
    Autophosphorylated on Tyr-872 leading to recruitment of downstream partners of the signaling cascade such as
    PLCG2 (By similarity)1
  • Ubiquitination2 at Lys856
  • Glycosylation2 at Asn114, Asn170, Asn207, Asn215, Asn234, Asn294, Asn316, Asn329, Asn336, Asn354,
                                 Asn389, Asn395, Asn442, Asn454
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for MERTK (Q12866) (see all 14)
     YSGDYYR  WVPGFDG  GDYYRQG  AVGPPEP 


    See MERTK Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006334.2  
    ENSEMBL proteins: 
     ENSP00000295408   ENSP00000387277   ENSP00000402129   ENSP00000412660   ENSP00000389152  
    Reactome Protein details: Q12866

    MERTK Human Recombinant Protein Products:

    EMD Millipore Purified and/or Recombinant MERTK Protein
    R&D Systems Recombinant & Natural Proteins for MERTK (Mer)
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    GenScript Custom Purified and Recombinant Proteins Services for MERTK
    Novus Biologicals MERTK Protein
    Novus Biologicals MERTK Lysate
    Sino Biological Recombinant Protein for MERTK
    Sino Biological Cell Lysate for MERTK
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    Cloud-Clone Corp. Proteins for MERTK

     
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    MERTK Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    OriGene Custom Antibody Services for MERTK
    Novus Biologicals MERTK Antibodies
    Abcam antibodies for MERTK (Q12866, Q06418)
    Cloud-Clone Corp. Antibodies for MERTK
    ThermoFisher Antibodies for MERTK
    LSBio Antibodies in human, mouse, rat for MERTK

    MERTK Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    R&D Systems ELISAs for MERTK (Mer)         (see all)
    GenScript Custom Assay Services for MERTK
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MERTK
    Cloud-Clone Corp. CLIAs for MERTK
    Search eBioscience for ELISAs for MERTK 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FN3: Fibronectin type III domain containing
    ISET: Immunoglobulin superfamily / I-set domain containing
    IGD: Immunoglobulin superfamily / Immunoglobulin-like domain containing

    IUPHAR Guide to PHARMACOLOGY protein family classification: c-mer proto-oncogene tyrosine kinase
    TAM (or AXL) receptor family
    Axl family

    Selected InterPro protein domains (see all 11):
     IPR017441 Protein_kinase_ATP_BS
     IPR003961 Fibronectin_type3
     IPR013098 Ig_I-set
     IPR011009 Kinase-like_dom
     IPR013783 Ig-like_fold

    Graphical View of Domain Structure for InterPro Entry Q12866

    ProtoNet protein and cluster: Q12866

    2 Blocks protein domains:
    IPB003599 Immunoglobulin subtype
    IPB008266 Tyrosine protein kinase


    UniProtKB/Swiss-Prot: MERTK_HUMAN, Q12866
    Similarity: Belongs to the protein kinase superfamily. Tyr protein kinase family. AXL/UFO subfamily
    Similarity: Contains 2 fibronectin type-III domains
    Similarity: Contains 2 Ig-like C2-type (immunoglobulin-like) domains
    Similarity: Contains 1 protein kinase domain


    Find genes that share domains with MERTK           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MERTK_HUMAN, Q12866
    Function: Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by
    binding to several ligands including LGALS3, TUB, TULP1 or GAS6. Regulates many physiological processes including
    cell survival, migration, differentiation, and phagocytosis of apoptotic cells (efferocytosis). Ligand binding at
    the cell surface induces autophosphorylation of MERTK on its intracellular domain that provides docking sites for
    downstream signaling molecules. Following activation by ligand, interacts with GRB2 or PLCG2 and induces
    phosphorylation of MAPK1, MAPK2, FAK/PTK2 or RAC1. MERTK signaling plays a role in various processes such as
    macrophage clearance of apoptotic cells, platelet aggregation, cytoskeleton reorganization and engulfment.
    Functions in the retinal pigment epithelium (RPE) as a regulator of rod outer segments fragments phagocytosis.
    Plays also an important role in inhibition of Toll-like receptors (TLRs)-mediated innate immune response by
    activating STAT1, which selectively induces production of suppressors of cytokine signaling SOCS1 and SOCS3
    Catalytic activity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate

         Genatlas biochemistry entry for MERTK:
    c-mer protooncogene,receptor-like tyrosine kinase,AXL family,expressed in heart,skeletal muscle,brain,and
    epithelium and cells of reproductive origin

         Enzyme Numbers (IUBMB): EC 2.7.10.11 2 EC 2.7.102

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity ----
    GO:0004713protein tyrosine kinase activity ----
    GO:0004714transmembrane receptor protein tyrosine kinase activity IEA--
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IEA--
         
    Find genes that share ontologies with MERTK           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for MERTK:
     Increased cell death HMECs cel 

         15 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Mertk):
     cardiovascular system  cellular  digestive/alimentary  endocrine/exocrine gland  hematopoietic system 
     homeostasis/metabolism  immune system  integument  liver/biliary system  mortality/aging 
     nervous system  pigmentation  reproductive system  skeleton  vision/eye 

    Find genes that share phenotypes with MERTK           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for MERTK: Mertktm1Gkm Mertktm1Grl Mertktm1Lex

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MERTK
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MERTK

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MERTK
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MERTK

    miRNA
    Products:
        
    miRTarBase miRNAs that target MERTK:
    hsa-mir-16-5p (MIRT031965), hsa-mir-126-3p (MIRT006545), hsa-mir-335-5p (MIRT002429)

    Block miRNA regulation of human, mouse, rat MERTK using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate MERTK:
    hsa-miR-656 hsa-miR-543
    SwitchGear 3'UTR luciferase reporter plasmidMERTK 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MERTK
    Predesigned siRNA for gene silencing in human, mouse, rat MERTK

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for MERTK

    Clone
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    OriGene ORF clones in mouse, rat for MERTK
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MERTK (NM_006343)
    Sino Biological Human cDNA Clone for MERTK
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MERTK
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MERTK
    Addgene plasmids for MERTK 

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MERTK


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MERTK_HUMAN, Q12866: Membrane; Single-pass type I membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane4
    cytoskeleton1
    endoplasmic reticulum1
    lysosome1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001750photoreceptor outer segment IEA--
    GO:0005615extracellular space IDA18395422
    GO:0005737cytoplasm IDA18395422
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS8086340

    Find genes that share ontologies with MERTK           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MERTK About   (see all 12)  
    See pathways by source

    SuperPathContained pathways About
    1GPCR Pathway
    Ras Pathway0.73
    Breast Cancer Regulation by Stathmin10.58
    Paxillin Interactions0.73
    NFAT in Immune Response0.58
    GPCR Pathway0.62
    Estrogen Pathway0.55
    Pancreatic Adenocarcinoma0.59
    P2Y Receptor Signaling0.38
    2ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    3Nanog in Mammalian ESC Pluripotency
    Nanog in Mammalian ESC Pluripotency0.61
    14-3-3 Induced Intracellular Signaling0.59
    GSK3 Signaling0.61
    eNOS Signaling0.48
    4Actin Nucleation by ARP-WASP Complex
    Actin Nucleation and Branching0.66
    CDC42 Pathway0.41
    Actin Nucleation by ARP-WASP Complex0.66
    5Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    Activation of PKA through GPCR0.71


    Find genes that share SuperPaths with MERTK           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for MERTK (see all 28)
        MAPK Signaling
    Paxillin Interactions
    Endothelin-1 Signaling Pathway
    Molecular Mechanisms of Cancer
    Intracellular Calcium Signaling

    1 Cell Signaling Technology (CST) Pathway for MERTK
        Tyrosine Kinases / Adaptors


    1 Reactome Pathway for MERTK
        Cell surface interactions at the vascular wall


        Pathway & Disease-focused RT2 Profiler PCR Array including MERTK: 
              Leukemia in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MERTK

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    Selected Interacting proteins for MERTK (Q128663 ENSP000002954084) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GAS6Q143933, ENSP000003318314I2D: score=4 STRING: ENSP00000331831
    VAV1P154983, ENSP000003022694I2D: score=2 STRING: ENSP00000302269
    PIK3R1P279863, ENSP000002743354I2D: score=1 STRING: ENSP00000274335
    GRB2P629933, ENSP000003390074I2D: score=3 STRING: ENSP00000339007
    TNK2Q079123, ENSP000003713414I2D: score=2 STRING: ENSP00000371341
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001779natural killer cell differentiation IEA--
    GO:0006468protein phosphorylation TAS8086340
    GO:0006909phagocytosis IMP19204785
    GO:0007166cell surface receptor signaling pathway TAS8086340
    GO:0007267cell-cell signaling TAS8086340

    Find genes that share ontologies with MERTK           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MERTK

    2 HMDB Compounds for MERTK    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--

    1 DrugBank Compound for MERTK    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    2-(2-HYDROXYETHYLAMINO)-6-(3-CHLOROANILINO)-9-ISOPROPYLPURINE-- --target--10592235

    1 IUPHAR Ligand for MERTK (c-mer proto-oncogene tyrosine kinase)    About this table
    LigandTypeActionAffinityPubmed IDs
    growth arrest specific protein 6
    NoneNone8939948

    10 Novoseek inferred chemical compound relationships for MERTK gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 70 79 12920122 (4), 18039660 (2), 19541935 (2), 20423999 (2) (see all 44)
    estrogen 44.9 10 16516516 (2), 16644474 (2), 18709647 (1), 12906933 (1) (see all 7)
    phosphatidylinositol 42.1 3 17008547 (1), 19667404 (1)
    estradiol 36.4 1 18709647 (1)
    phosphatidylserine 29.1 1 15673687 (1)
    progesterone 20.1 2 8905348 (1), 15288769 (1)
    steroid 13.9 3 18420744 (1), 15288769 (1), 16289637 (1)
    adp 2.34 1 15733062 (1)
    calcium 0 3 16644474 (2)
    testosterone 0 1 8905348 (1)



    Find genes that share compounds with MERTK           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MERTK gene: 
    NM_006343.2  

    Unigene Cluster for MERTK:

    C-mer proto-oncogene tyrosine kinase
    Hs.306178  [show with all ESTs]
    Unigene Representative Sequence: NM_006343
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000295408(uc002thk.1 uc002thl.1) ENST00000409780 ENST00000439966
    ENST00000473065 ENST00000449344 ENST00000421804
    miRNA
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    hsa-miR-656 hsa-miR-543
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    Inhib. RNA
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MERTK
      QuantiTect SYBR Green Assays in human, mouse, rat MERTK
      QuantiFast Probe-based Assays in human, mouse, rat MERTK

    Additional mRNA sequence: 

    AK294196.1 AK308695.1 AK316584.1 BC114917.1 BC114918.1 D16316.1 U08023.1 

    4 DOTS entries:

    DT.95159229  DT.100780656  DT.95205067  DT.95126097 

    Selected AceView cDNA sequences (see all 83):

    AA948495 AA435890 Z38687 BM676842 BG545219 AI421374 CR598172 BF196629 
    BM995442 BM719997 CD671142 F02014 AI168291 AI857346 AW627665 AA436564 
    AA436591 BX280572 AA398845 BG115560 AI208879 CF529050 BG109051 BG432797 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MERTK expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAAAAGACA
    MERTK Expression
    About this image


    MERTK expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Endothelium (Cardiovascular System)    fully expand to see all 2 entries
             Adult Endothelial Cells Blood Brain Barrier
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Adult Endothelial Cells Blood Brain Barrier
     
     Epithelial Cells
             Podocytes Podocyte Layer
     
     Bone (Muscoskeletal System)
             Bone marrow-derived mesenchymal stem cells and monocytes (Ixmyelocel-T)
     
     Kidney (Urinary System)
             Podocytes Podocyte Layer
    MERTK Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MERTK Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.306178

    UniProtKB/Swiss-Prot: MERTK_HUMAN, Q12866
    Tissue specificity: Not expressed in normal B- and T-lymphocytes but is expressed in numerous neoplastic B- and
    T-cell lines. Highly expressed in testis, ovary, prostate, lung, and kidney, with lower expression in spleen,
    small intestine, colon, and liver

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for MERTK gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mertk1 , 5 c-mer proto-oncogene tyrosine kinase1, 5 82.63(n)1
    81.88(a)1
      2 (62.63 cM)5
    172891  NM_008587.11  NP_032613.11 
     1286989565 
    chicken
    (Gallus gallus)
    Aves MERTK1 c-mer proto-oncogene tyrosine kinase 64.58(n)
    62.83(a)
      395836  NM_204988.1  NP_990319.1 
    lizard
    (Anolis carolinensis)
    Reptilia MERTK6
    c-mer proto-oncogene tyrosine kinase
    59(a)
    1 ↔ 1
    GL343437.1(208909-279937)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia mertk1 c-mer proto-oncogene tyrosine kinase 60.12(n)
    56.46(a)
      100485743  XM_002940398.2  XP_002940444.2 
    zebrafish
    (Danio rerio)
    Actinopterygii mertk1 c-mer proto-oncogene tyrosine kinase 56.49(n)
    51.04(a)
      100322133  XM_002664231.3  XP_002664277.3 


    ENSEMBL Gene Tree for MERTK (if available)
    TreeFam Gene Tree for MERTK (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MERTK gene
    AXL2  MET2  RYK2  TYRO32  MST1R2  
    Selected SIMAP similar genes for MERTK using alignment to 7 protein entries:     MERTK_HUMAN (see all proteins) (see all similar genes):
    EPHA4    TYRO3    ABL1    BCR/ABL fusion    BRAF    AXL
    RYK    TIE1    FGFR1    FGFR3    FLT4    LRIG3(NM_001136051)-ROS1
    LRIG3(NM_153377)-ROS1    MST1R    TPM3-ROS1    FES    FLT1    SRC

    Find genes that share paralogs with MERTK           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MERTK (see all 2838)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1134850151,2,,4
    C,FRetinitis pigmentosa 38 (RP38)4 --112272742(+) TCACAG/AAGGAG 2 /K /E mis12Minor allele frequency- A:0.01CSA NA 4548
    VAR_0210474
    Retinitis pigmentosa 38 (RP38)4--see VAR_0210472 S C mis40--------
    VAR_0417464
    A head & Neck squamous cell carcinoma sample4--see VAR_0417462 A S mis40--------
    VAR_0417434
    A renal clear cell carcinoma sample4--see VAR_0417432 A G mis40--------
    VAR_0210484
    Retinitis pigmentosa 38 (RP38)4--see VAR_0210482 I T mis40--------
    rs358984991,2,,4
    Cuntested1112170160(+) CGTAGA/TGGTGA 2 R S mis11Minor allele frequency- T:0.00NA 2
    rs340720931,2,,4
    C,Funtested1112239743(+) CATCCG/ATAACA 2 /H /R mis13Minor allele frequency- A:0.01NA EU 5875
    rs22305171,2,,4
    C,F,Huntested1112299994(+) CAGACG/ATTATT 2 /I /V mis1 ese331Minor allele frequency- A:0.08MN NS EA NA CSA WA EU 8972
    rs2006444541,2
    Cuntested1112300354(+) CTGACG/AACTCC 2 /N /D mis11Minor allele frequency- A:0.00EU 1323
    rs572830841,2
    C--105192475(+) AAAAAAA/-GCCTT 1 -- int11Minor allele frequency- -:0.50NA 2

    HapMap Linkage Disequilibrium report for MERTK (112656056 - 112787138 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for MERTK (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2676232CNV Deletion23128226
    esv1040623CNV Insertion17803354
    esv2442067CNV Insertion19546169
    nsv512776CNV Insertion21212237
    esv272913CNV Insertion20981092
    esv271080CNV Insertion20981092
    nsv526647CNV Loss19592680
    nsv515698CNV Loss19592680
    nsv213801CNV Loss16902084
    nsv428402CNV Loss18775914

    Human Gene Mutation Database (HGMD): MERTK
    Locus Specific Mutation Databases (LSDB): MERTK

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604705   
    OMIM disorders: 613862  
    UniProtKB/Swiss-Prot: MERTK_HUMAN, Q12866
  • Retinitis pigmentosa 38 (RP38) [MIM:613862]: A retinal dystrophy belonging to the group of pigmentary
    retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination
    and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically
    have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose
    their far peripheral visual field and eventually central vision as well. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 3 diseases for MERTK:    
    About MalaCards
    mertk-related retinitis pigmentosa    retinitis pigmentosa 38    leber congenital amaurosis

    3 diseases from the University of Copenhagen DISEASES database for MERTK:
    Retinitis pigmentosa     Fundus dystrophy     Leber congenital amaurosis

    Find genes that share disorders with MERTK           About GenesLikeMe

    9 Novoseek inferred disease relationships for MERTK gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lebers congenital amaurosis 82.4 4 20300561 (2)
    retinitis pigmentosa 74.2 10 15111602 (2), 20300561 (2), 12920122 (1), 18055816 (1) (see all 6)
    retinal degeneration 64.1 6 15111602 (2), 11727200 (1), 11062461 (1), 12556419 (1) (see all 5)
    retinopathy 29.5 1 16714263 (1)
    thrombosis 18.8 3 15130911 (2), 15108283 (1), 17708828 (1)
    inflammation 0.315 8 18039660 (1), 16837475 (1), 17626743 (1), 17708828 (1)
    renal disease 0.0228 1 12768229 (1)
    necrosis 0 1 17047157 (1)
    tumors 0 1 17047157 (1)

    Genetic Association Database (GAD): MERTK
    Human Genome Epidemiology (HuGE) Navigator: MERTK (7 documents)

    Export disorders for MERTK gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MERTK gene, integrated from 10 sources (see all 141):
    (articles sorted by number of sources associating them with MERTK)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and mRNA expression analysis of a novel human protooncogene, c-mer. (PubMed id 8086340)1, 2, 3 Graham D.K.... Earp H.S. (Cell Growth Differ. 1994)
    2. An SH2 domain-dependent, phosphotyrosine-independent interaction between Vav1 and the Mer receptor tyrosine kinase: a mechanism for localizing guanine nucleotide-exchange factor action. (PubMed id 12920122)1, 2, 9 Mahajan N.P. and Earp H.S. (J. Biol. Chem. 2003)
    3. MERTK polymorphisms associated with risk of haematological disorders among Korean SLE patients. (PubMed id 16837475)1, 4, 9 Cheong H.S....Bae S.C. (Rheumatology (Oxford) 2007)
    4. Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa. (PubMed id 11062461)1, 2, 9 Gal A.... Vollrath D. (Nat. Genet. 2000)
    5. Galectin-3 is a new MerTK-specific eat-me signal. (PubMed id 21792939)1, 2 Caberoy N.B.... Li W. (J. Cell. Physiol. 2012)
    6. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PubMed id 20801516)1, 4 Booij J.C....Florijn R.J. (Ophthalmology 2011)
    7. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. (PubMed id 21833088)1, 4  ....Compston A. (Nature 2011)
    8. Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa. (PubMed id 20591486)1, 4 Clark G.R.... Simpson D.A. (Ophthalmology 2010)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    10. Association study between polymorphims in GAS6-TAM genes and carotid atherosclerosis. (PubMed id 20664904)1, 4 Hurtado B....Sala N. (Thromb. Haemost. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10461 HGNC: 7027 AceView: MERTK Ensembl:ENSG00000153208 euGenes: HUgn10461
    ECgene: MERTK H-InvDB: MERTK

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MERTK Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MERTK Genetics and Cytogenetics in Oncology and Haematology
    Mutations of the MERTK genehttp://www.retina-international.org/files/sci-news/mertkmut.htm

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MERTK gene:
    Search GeneIP for patents involving MERTK

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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