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    MERTK MER proto-oncogene, tyrosine kinase [ Homo sapiens (human) ]

    Gene ID: 10461, updated on 10-Oct-2019

    Summary

    Official Symbol
    MERTKprovided by HGNC
    Official Full Name
    MER proto-oncogene, tyrosine kinaseprovided by HGNC
    Primary source
    HGNC:HGNC:7027
    See related
    Ensembl:ENSG00000153208 MIM:604705
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MER; RP38; c-Eyk; c-mer; Tyro12
    Summary
    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]
    Expression
    Broad expression in adrenal (RPKM 25.0), spleen (RPKM 11.3) and 21 other tissues See more
    Orthologs

    Genomic context

    See MERTK in Genome Data Viewer
    Location:
    2q13
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    109.20190905 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (111898607..112029561)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (112656056..112797293)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene microRNA 4771-2 Neighboring gene anaphase promoting complex subunit 1 Neighboring gene eukaryotic translation elongation factor 1 epsilon 1 pseudogene 1 Neighboring gene RNA transcription, translation and transport factor pseudogene Neighboring gene RNA, 7SL, cytoplasmic 297, pseudogene Neighboring gene solute carrier family 30 member 6 pseudogene Neighboring gene Sharpr-MPRA regulatory region 3720 Neighboring gene uncharacterized LOC105373560 Neighboring gene transmembrane protein 87B Neighboring gene fibulin 7 Neighboring gene zinc finger CCCH-type containing 8

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Retinitis pigmentosa 38 Compare labs

    NHGRI GWAS Catalog

    Description
    Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
    NHGRI GWA Catalog
    Genome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Cell surface interactions at the vascular wall, organism-specific biosystem (from REACTOME)
      Cell surface interactions at the vascular wall, organism-specific biosystemLeukocyte extravasation is a rigorously controlled process that guides white cell movement from the vascular lumen to sites of tissue inflammation. The powerful adhesive interactions that are require...
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC133349

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transmembrane receptor protein tyrosine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    apoptotic cell clearance IEA
    Inferred from Electronic Annotation
    more info
     
    cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell surface receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    cell-cell signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    leukocyte migration TAS
    Traceable Author Statement
    more info
     
    natural killer cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cytokine production IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of leukocyte apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of lymphocyte activation IEA
    Inferred from Electronic Annotation
    more info
     
    nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    neutrophil clearance IEA
    Inferred from Electronic Annotation
    more info
     
    peptidyl-tyrosine phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    phagocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    phagocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    platelet activation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of phagocytosis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein kinase B signaling IEA
    Inferred from Electronic Annotation
    more info
     
    protein phosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    retina development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
     
    secretion by cell IEA
    Inferred from Electronic Annotation
    more info
     
    spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    substrate adhesion-dependent cell spreading IEA
    Inferred from Electronic Annotation
    more info
     
    transmembrane receptor protein tyrosine kinase signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    vagina development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    photoreceptor outer segment IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    rhabdomere IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    tyrosine-protein kinase Mer
    Names
    MER receptor tyrosine kinase
    STK kinase
    c-mer proto-oncogene tyrosine kinase
    proto-oncogene c-Mer
    receptor tyrosine kinase MerTK
    NP_006334.2

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011607.1 RefSeqGene

      Range
      4994..135948
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_006343.3NP_006334.2  tyrosine-protein kinase Mer precursor

      See identical proteins and their annotated locations for NP_006334.2

      Status: REVIEWED

      Source sequence(s)
      AC093675, AC104651, AL705756, AW627665, BM719997, BX474860, CA454601, CN371299, CN371300, U08023
      Consensus CDS
      CCDS2094.1
      UniProtKB/Swiss-Prot
      Q12866
      Related
      ENSP00000295408.4, ENST00000295408.9
      Conserved Domains (7) summary
      cd00096
      Location:111176
      Ig; Immunoglobulin domain
      cd05749
      Location:199279
      Ig2_Tyro3_like; Second immunoglobulin (Ig)-like domain of Axl/Tyro3 receptor tyrosine kinases (RTKs)
      smart00409
      Location:111193
      IG; Immunoglobulin
      smart00410
      Location:203280
      IG_like; Immunoglobulin like
      cd00063
      Location:284378
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd14204
      Location:579862
      PTKc_Mer; Catalytic Domain of the Protein Tyrosine Kinase, Mer
      pfam07714
      Location:587854
      Pkinase_Tyr; Protein tyrosine kinase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      111898607..112029561
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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