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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MERTK Gene

protein-coding   GIFtS: 70
GCID: GC02P112656

c-mer proto-oncogene tyrosine kinase

 Explore 26 diseases affiliated with
MERTK via our new
 Human Malady Compendium 
Biological research products
for MERTK
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
C-Mer Proto-Oncogene Tyrosine Kinase1 2     Mer1
RP381 2 5     C-Mer1
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

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MERTK:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_022135.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for MERTK

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: Membrane; Single-pass type I membrane protein (By similarity)
5 PDB 3D structures from and Proteopedia for MERTK:
2DBJ (3D)        2P0C (3D)        3BPR (3D)        3BRB (3D)        3TCP (3D)    
Secondary accessions: Q9HBB4

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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q12866

  • 4/14 DME Specific Peptides for MERTK (Q12866) (see all 14)
     YSGDYYR  WVPGFDG  GDYYRQG  AVGPPEP 

    MERTK Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_006334.2  
    ENSEMBL proteins: 
     ENSP00000295408   ENSP00000387277   ENSP00000402129   ENSP00000412660   ENSP00000389152  
    Reactome Protein details: Q12866
    Human Recombinant Protein Products: 
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for MERTK

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001750photoreceptor outer segment IEA--
    GO:0005615extracellular space IDA18395422
    GO:0005625soluble fraction ----
    GO:0005737cytoplasm IDA19204785
    GO:0005886plasma membrane TAS--


    MERTK for ontologies           About GeneDecksing



    MERTK Antibody Products: 
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    Uscn ELISAs and CLIAs for MERTK


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    MERTK for domains           About GeneDecksing

    5/11 InterPro domains/families (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 families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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
    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

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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate MERTK:
    hsa-miR-656 hsa-miR-543
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    Inhib. RNA
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    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (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:0004872receptor activity ----
    GO:0005515protein binding IPI--


    MERTK for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-outs for MERTK: Mertktm1Gkm Mertktm1Grl Mertktm1Lex
         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 

    MERTK for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/12 super-pathways (see all 12About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1GPCR Pathway
    GPCR Pathway1.00
    Estrogen Pathway0.55
    Ras Pathway0.62
    Pancreatic Adenocarcinoma0.55
    Breast Cancer Regulation by Stathmin10.58
    Paxillin Interactions0.53
    NFAT in Immune Response0.58
    P2Y Receptor Signaling0.38
    2Rho Family GTPases
    Rho Family GTPases1.00
    MAPK Signaling0.51
    ERK Signaling0.61
    ILK Signaling0.45
    Molecular Mechanisms of Cancer0.51
    3Nanog in Mammalian ESC Pluripotency
    Nanog in Mammalian ESC Pluripotency1.00
    14-3-3 Induced Intracellular Signaling0.59
    GSK3 Signaling0.61
    eNOS Signaling0.48
    4Actin Nucleation by ARP-WASP Complex
    Actin Nucleation by ARP-WASP Complex1.00
    CDC42 Pathway0.34
    Actin Nucleation and Branching0.66
    5Akt Signaling
    Akt Signaling1.00
    p38 Signaling0.60

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5/28 Downloadable PowerPoint Slides of QIAGEN 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

    2        Reactome Pathways for MERTK
        Hemostasis
    Cell surface interactions at the vascular wall



    MERTK for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MERTK

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    5/23 Interacting proteins for MERTK (Q128663 ENSP000002954084) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    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): 5/17 biological process terms (GO ID links to tree view) (see all 17):    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


    MERTK for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MERTK for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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

    10 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about MERTK 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

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    Additional cDNA 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 

    24/83 AceView cDNA sequences (see all 83):

    AA948495 BM719997 AA436591 BM676842 AI421374 AA435890 BG545219 BM995442 
    BF196629 CR598172 AI168291 BX280572 AI857346 CD671142 Z38687 F02014 
    AA436564 AW627665 CA454601 AW241169 D16316 CD239155 BX366692 AK026681 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MERTK expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAAAAAGACA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    MERTK expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainBlood Brain BarrierAdult Endothelial CellsBlood Brain Barrier, Endothelium
    KidneyPodocyte LayerPodocytesKidney
    LiverLiver LobulePerivenous HepatocytesLiver
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    PureStem™ progenitor SM22 (Embryonic Progenitor Cell)
    Definitive endoderm-like cells (A scalable, suspensi...)

    See MERTK Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MERTK

    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

        SABiosciences Expression via Pathway-Focused PCR Array including MERTK: 
              Leukemia in human mouse rat

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    In Situ
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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for MERTK gene from 4/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves MERTK1 c-mer proto-oncogene tyrosine kinase 63.67(n)
    61.67(a)
      395836  NM_204988.1  NP_990319.1 
    lizard
    (Anolis carolinensis)
    Reptilia MERTK6
    --
    63(a)
    1 ↔ 1
    GL343437.1(213087-268419)
    zebrafish
    (Danio rerio)
    Actinopterygii mertk1 c-mer proto-oncogene tyrosine kinase 54.17(n)
    48.4(a)
      100322133  XM_002664231.2  XP_002664277.2 
    worm
    (Caenorhabditis elegans)
    Secernentea F11E6.83 Eukaryotic protein kinase domain 40(a)
    (best of 4)
      IV(17444692-17450635)   --


    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)
    About This Section
    Paralogs for MERTK gene
    AXL2  TIE12  MET2  RYK2  TEK2  TYRO32  MST1R2  
    18/41 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    FLT1
    AXL    RYK    TIE1    FGFR1    FGFR3    FLT4
    MST1R    FES    SRC    urf-ret    BTK kinase deficient isoform 6    CCDC6-RETa

    MERTK for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2343 NCBI SNPs in MERTK are shown (see all 2343    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs22305171,2
    C,F,H,untested105975196(+) CAGACG/ATTATT 2 /I /V mis1 ese331Minor allele frequency- A:0.08MN NS EA NA CSA WA EU 8972
    rs340720931,2
    C,F,untested106035411(+) CATCCG/ATAACA 2 /H /R mis13Minor allele frequency- A:0.01NA EU 5875
    rs358984991,2
    C,untested106105016(+) CGTAGA/TGGTGA 2 R S mis11Minor allele frequency- T:0.00NA 2
    rs764809311,2
    --105167546(+) GCTGAC/TATTTT 1 -- us2k11Minor allele frequency- T:0.01NA 120
    rs1129019521,2
    --105168235(+) TGTTAC/TCTTGT 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs589832731,2
    C,--105168330(+) GCTGCC/TTGTCT 1 -- us2k12Minor allele frequency- T:0.09WA 120
    rs729363001,2
    C,--105168417(+) ATTGAA/CGAGGC 1 -- us2k12Minor allele frequency- C:0.15CSA WA 119
    rs753196021,2
    --105168716(+) GCCTCT/CTGGAC 1 -- us2k11Minor allele frequency- C:0.01NA 120
    rs728234711,2
    C,--105168746(+) CCCATG/TAGAGT 1 -- us2k10--------
    rs777953201,2
    F,--105168820(+) CTCCTT/AGAGTG 1 -- us2k11Minor allele frequency- A:0.02NA 120

    HapMap Linkage Disequilibrium report for MERTK (112656056 - 112787138 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for MERTK
         3 CNVs: 5995 3384 50262
         1 Indel: 97937
    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.)
    About This Section

    MERTK for disorders           About GeneDecksing

    OMIM gene information: 604705   
    OMIM disorders: 268000  
    UniProtKB/Swiss-Prot: MERTK_HUMAN, Q12866
  • Defects in MERTK are the cause of retinitis pigmentosa type 38 (RP38) [MIM:613862]. RP38 is 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

    20/26 diseases for MERTK (see all 26):    About MalaCards
    retinitis pigmentosa    retinitis    retinitis pigmentosa-38    leber congenital amaurosis
    pigmentary retinopathy    fundus dystrophy    cone dystrophy    retinal degeneration
    systemic lupus erythematosus    lupus erythematosus    acute lymphoblastic leukemia    lymphoblastic leukemia
    thrombosis    multiple sclerosis    retinal disease    choroiditis
    gastric cancer    blindness    leukemia    astrocytoma

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

    9 Novoseek 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)

    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)
    About This Section

    PubMed articles for MERTK gene, integrated from 9 sources (see all 127):
    (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. (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. (2003)
    3. 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. (2000)
    4. Galectin-3 is a new MerTK-specific eat-me signal. (PubMed id 21792939)1, 2 Caberoy N.B.... Li W. (2012)
    5. Tyro3 family-mediated cell entry of Ebola and Marburg viruses. (PubMed id 17005688)1, 2 Shimojima M.... Kawaoka Y. (2006)
    6. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (2005)
    7. Activated tyrosine kinase Ack1 promotes prostate tumorigenesis: role of Ack1 in polyubiquitination of tumor suppressor Wwox. (PubMed id 16288044)1, 2 Mahajan N.P.... Earp H.S. (2005)
    8. Assignment of protooncogene MERTK (a.k.a. c-mer) to human chromosome 2q14.1 by in situ hybridization. (PubMed id 10343112)1, 3 Weier H.U....Lersch R.A. (1999)
    9. Identification of the major autophosphorylation sites of Nyk/Mer, an NCAM-related receptor tyrosine kinase. (PubMed id 8702477)1, 2 Ling L....Kung H.J. (1996)
    10. [Expression of mer on jurkat cells and its anti-apoptosis effect] (PubMed id 17626743)1, 9 Fan L....Ruan C.G. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 10461 HGNC: 7027 AceView: MERTK Ensembl:ENSG00000153208 euGenes: HUgn10461
    ECgene: MERTK H-InvDB: MERTK

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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    About This Section

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