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

Gene ID: 10461, updated on 8-Jul-2018
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; Vega:OTTHUMG00000131278
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
See MERTK in Genome Data Viewer
Location:
2q13
Exon count:
24
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (111898479..112039946)
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 uncharacterized LOC105373560 Neighboring gene transmembrane protein 87B Neighboring gene fibulin 7 Neighboring gene zinc finger CCCH-type containing 8

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC133349

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
MAP kinase kinase kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Wnt-protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitogen-activated protein kinase kinase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein tyrosine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane receptor protein tyrosine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane receptor protein tyrosine kinase activity IEA
Inferred from Electronic Annotation
more info
 
transmembrane signaling receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
Wnt signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
apoptotic cell clearance IEA
Inferred from Electronic Annotation
more info
 
cell differentiation 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
 
multicellular organism development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
natural killer cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
negative regulation of signal transduction 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 ERK1 and ERK2 cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of MAPK cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
vagina development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
integral component of plasma membrane TAS
Traceable Author Statement
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 
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
XP_005263622.1
XP_005263625.1
XP_011508792.1
XP_016858653.1
XP_016858654.1

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
    5001..135755
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_006334.2

    Status: REVIEWED

    Source sequence(s)
    AC093675, AL705756, AW627665, BM719997, BX474860, CA454601, CN371299, CN371300, U08023
    Consensus CDS
    CCDS2094.1
    UniProtKB/Swiss-Prot
    Q12866
    Related
    ENSP00000295408.4, OTTHUMP00000161952, ENST00000295408.8, OTTHUMT00000254046
    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 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    111898479..112039946
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005263565.4XP_005263622.1  tyrosine-protein kinase Mer isoform X2

    Conserved Domains (6) 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)
    smart00219
    Location:587832
    TyrKc; Tyrosine kinase, catalytic domain
    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 ...
    cl21453
    Location:579832
    PKc_like; Protein Kinases, catalytic domain
  2. XM_005263568.4XP_005263625.1  tyrosine-protein kinase Mer isoform X3

    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 ...
    cl17171
    Location:59118
    PH-like; Pleckstrin homology-like domain
    cl21453
    Location:579730
    PKc_like; Protein Kinases, catalytic domain
  3. XM_017003165.2XP_016858654.1  tyrosine-protein kinase Mer isoform X4

    Conserved Domains (2) summary
    cd14204
    Location:174457
    PTKc_Mer; Catalytic Domain of the Protein Tyrosine Kinase, Mer
    pfam07714
    Location:182449
    Pkinase_Tyr; Protein tyrosine kinase
  4. XM_011510490.3XP_011508792.1  tyrosine-protein kinase Mer isoform X1

    Conserved Domains (7) summary
    cd00096
    Location:48113
    Ig; Immunoglobulin domain
    cd05749
    Location:136216
    Ig2_Tyro3_like; Second immunoglobulin (Ig)-like domain of Axl/Tyro3 receptor tyrosine kinases (RTKs)
    smart00409
    Location:48130
    IG; Immunoglobulin
    smart00410
    Location:140217
    IG_like; Immunoglobulin like
    cd00063
    Location:221315
    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:516799
    PTKc_Mer; Catalytic Domain of the Protein Tyrosine Kinase, Mer
    pfam07714
    Location:524791
    Pkinase_Tyr; Protein tyrosine kinase
  5. XM_017003164.1XP_016858653.1  tyrosine-protein kinase Mer isoform X1

    Conserved Domains (7) summary
    cd00096
    Location:48113
    Ig; Immunoglobulin domain
    cd05749
    Location:136216
    Ig2_Tyro3_like; Second immunoglobulin (Ig)-like domain of Axl/Tyro3 receptor tyrosine kinases (RTKs)
    smart00409
    Location:48130
    IG; Immunoglobulin
    smart00410
    Location:140217
    IG_like; Immunoglobulin like
    cd00063
    Location:221315
    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:516799
    PTKc_Mer; Catalytic Domain of the Protein Tyrosine Kinase, Mer
    pfam07714
    Location:524791
    Pkinase_Tyr; Protein tyrosine kinase
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