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Aliases for MERTK Gene

Aliases for MERTK Gene

  • MER Proto-Oncogene, Tyrosine Kinase 2 3
  • C-Mer Proto-Oncogene Tyrosine Kinase 2 3
  • Receptor Tyrosine Kinase MerTK 3 4
  • Proto-Oncogene C-Mer 3 4
  • EC 2.7.10.1 4 63
  • RP38 3 6
  • MER 3 4
  • MER Receptor Tyrosine Kinase 3
  • Tyrosine-Protein Kinase Mer 3
  • STK Kinase 3
  • EC 2.7.10 63
  • Tyro12 3
  • C-Eyk 3
  • C-Mer 3

External Ids for MERTK Gene

Summaries for MERTK Gene

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 (MER Proto-Oncogene, Tyrosine Kinase) is a Protein Coding gene. Diseases associated with MERTK include retinitis pigmentosa 38 and mertk-related retinitis pigmentosa. Among its related pathways are GPCR Pathway and Akt Signaling. GO annotations related to this gene include transmembrane receptor protein tyrosine kinase activity. An important paralog of this gene is MET.

UniProtKB/Swiss-Prot for MERTK Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MERTK Gene

Genomics for MERTK Gene

Genomic Location for MERTK Gene

Start:
111,898,479 bp from pter
End:
112,039,716 bp from pter
Size:
141,238 bases
Orientation:
Plus strand

Genomic View for MERTK Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MERTK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MERTK Gene

Regulatory Elements for MERTK Gene

Proteins for MERTK Gene

  • Protein details for MERTK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12866-MERTK_HUMAN
    Recommended name:
    Tyrosine-protein kinase Mer
    Protein Accession:
    Q12866
    Secondary Accessions:
    • Q9HBB4

    Protein attributes for MERTK Gene

    Size:
    999 amino acids
    Molecular mass:
    110249 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for MERTK Gene

neXtProt entry for MERTK Gene

Proteomics data for MERTK Gene at MOPED

Post-translational modifications for MERTK Gene

  • 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).
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys856
  • Glycosylation at Asn114, Asn170, Asn207, Asn215, Asn234, Asn294, Asn316, Asn329, Asn336, Asn354, Asn389, Asn395, Asn442, and Asn454

Other Protein References for MERTK Gene

Domains for MERTK Gene

Gene Families for MERTK Gene

HGNC:
  • ISET :Immunoglobulin superfamily / I-set domain containing
  • FN3 :Fibronectin type III domain containing
  • IGD :Immunoglobulin superfamily / Immunoglobulin-like domain containing
IUPHAR :

Suggested Antigen Peptide Sequences for MERTK Gene

Graphical View of Domain Structure for InterPro Entry

Q12866

UniProtKB/Swiss-Prot:

MERTK_HUMAN
Domain:
  • Contains 2 fibronectin type-III domains.:
    • Q12866
  • Contains 2 Ig-like C2-type (immunoglobulin-like) domains.:
    • Q12866
  • Contains 1 protein kinase domain.:
    • Q12866
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. AXL/UFO subfamily.:
    • Q12866
genes like me logo Genes that share domains with MERTK: view

Function for MERTK Gene

Molecular function for MERTK Gene

GENATLAS Biochemistry: c-mer protooncogene,receptor-like tyrosine kinase,AXL family,expressed in heart,skeletal muscle,brain,and epithelium and cells of reproductive origin
UniProtKB/Swiss-Prot CatalyticActivity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for MERTK Gene

Gene Ontology (GO) - Molecular Function for MERTK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity --
GO:0004713 protein tyrosine kinase activity --
GO:0004714 transmembrane receptor protein tyrosine kinase activity IEA --
GO:0005515 protein binding IPI 20103767
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with MERTK: view
genes like me logo Genes that share phenotypes with MERTK: view

Animal Models for MERTK Gene

MGI Knock Outs for MERTK:

miRNA for MERTK Gene

miRTarBase miRNAs that target MERTK

No data available for Transcription Factor Targeting and HOMER Transcription for MERTK Gene

Localization for MERTK Gene

Subcellular locations from UniProtKB/Swiss-Prot for MERTK Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MERTK Gene COMPARTMENTS Subcellular localization image for MERTK gene
Compartment Confidence
extracellular 5
plasma membrane 4
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for MERTK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IEA --
GO:0005615 extracellular space IDA 18395422
GO:0005737 cytoplasm IDA 18395422
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 8086340
genes like me logo Genes that share ontologies with MERTK: view

Pathways for MERTK Gene

genes like me logo Genes that share pathways with MERTK: view

Pathways by source for MERTK Gene

1 Cell Signaling Technology pathway for MERTK Gene
2 Reactome pathways for MERTK Gene

Gene Ontology (GO) - Biological Process for MERTK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001779 natural killer cell differentiation IEA --
GO:0006468 protein phosphorylation TAS 8086340
GO:0006909 phagocytosis IMP 19204785
GO:0007166 cell surface receptor signaling pathway TAS 8086340
GO:0007267 cell-cell signaling TAS 8086340
genes like me logo Genes that share ontologies with MERTK: view

Compounds for MERTK Gene

(2) HMDB Compounds for MERTK Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0

(1) Drugbank Compounds for MERTK Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
2-(2-HYDROXYETHYLAMINO)-6-(3-CHLOROANILINO)-9-ISOPROPYLPURINE
target

(1) IUPHAR Ligand for MERTK Gene

Ligand Type Action Affinity Pubmed IDs
growth arrest specific protein 6 None None

(10) Novoseek inferred chemical compound relationships for MERTK Gene

Compound -log(P) Hits PubMed IDs
tyrosine 70 57
estrogen 44.9 9
phosphatidylinositol 42.1 2
estradiol 36.4 1
phosphatidylserine 29.1 1
genes like me logo Genes that share compounds with MERTK: view

Transcripts for MERTK Gene

Unigene Clusters for MERTK Gene

C-mer proto-oncogene tyrosine kinase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MERTK Gene

No ASD Table

Relevant External Links for MERTK Gene

GeneLoc Exon Structure for
MERTK
ECgene alternative splicing isoforms for
MERTK

Expression for MERTK Gene

mRNA expression in normal human tissues for MERTK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MERTK Gene

SOURCE GeneReport for Unigene cluster for MERTK Gene Hs.306178

mRNA Expression by UniProt/SwissProt for MERTK Gene

Q12866-MERTK_HUMAN
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
genes like me logo Genes that share expressions with MERTK: view

No data available for mRNA differential expression in normal tissues for MERTK Gene

Orthologs for MERTK Gene

This gene was present in the common ancestor of animals.

Orthologs for MERTK Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MERTK 35
  • 99.4 (n)
  • 99.1 (a)
MERTK 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MERTK 35
  • 83.88 (n)
  • 81.75 (a)
MERTK 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MERTK 35
  • 87.78 (n)
  • 86.1 (a)
MERTK 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mertk 35
  • 82.63 (n)
  • 81.88 (a)
Mertk 16
Mertk 36
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MERTK 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MERTK 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mertk 35
  • 82.5 (n)
  • 81.37 (a)
chicken
(Gallus gallus)
Aves MERTK 35
  • 64.58 (n)
  • 62.83 (a)
MERTK 36
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MERTK 36
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mertk 35
  • 60.12 (n)
  • 56.46 (a)
zebrafish
(Danio rerio)
Actinopterygii mertk 35
  • 56.49 (n)
  • 51.04 (a)
mertk 36
  • 47 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta tor 37
  • 43 (a)
worm
(Caenorhabditis elegans)
Secernentea ZK593.9 37
  • 29 (a)
F11E6.8 37
  • 40 (a)
T14E8.1a 37
  • 30 (a)
T14E8.1b 37
  • 32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 29 (a)
OneToMany
Species with no ortholog for MERTK:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MERTK Gene

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

Paralogs for MERTK Gene

Paralogs for MERTK Gene

genes like me logo Genes that share paralogs with MERTK: view

Variants for MERTK Gene

Sequence variations from dbSNP and Humsavar for MERTK Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs867311 -- 111,920,393(+) CACCC(G/T)CTTTC intron-variant
rs868500 -- 111,919,419(+) GTGGG(A/C)CATGG intron-variant
rs869016 -- 111,901,533(-) TTCCA(C/T)TCAGC intron-variant
rs870761 -- 111,987,713(+) ACAAA(A/T)TATTG intron-variant
rs870762 -- 111,987,850(+) TTATA(C/T)GTGCG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MERTK Gene

Variant ID Type Subtype PubMed ID
nsv521956 CNV Loss 19592680
nsv428402 CNV Loss 18775914
dgv1236e1 CNV Complex 17122850
nsv834333 CNV Gain 17160897
nsv874863 CNV Loss 21882294
dgv4278n71 CNV Gain 21882294
nsv526647 CNV Loss 19592680
nsv515698 CNV Loss 19592680
esv2442067 CNV Insertion 19546169
nsv512776 CNV Insertion 21212237
esv1040623 CNV Insertion 17803354
esv272913 CNV Insertion 20981092
esv271080 CNV Insertion 20981092
nsv213801 CNV Loss 16902084
esv2676232 CNV Deletion 23128226

Relevant External Links for MERTK Gene

HapMap Linkage Disequilibrium report
MERTK
Human Gene Mutation Database (HGMD)
MERTK
Locus Specific Mutation Databases (LSDB)
MERTK

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MERTK Gene

Disorders for MERTK Gene

(1) OMIM Diseases for MERTK Gene (604705)

UniProtKB/Swiss-Prot

MERTK_HUMAN
  • 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. {ECO:0000269 PubMed:11062461}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for MERTK Gene

(9) Novoseek inferred disease relationships for MERTK Gene

Disease -log(P) Hits PubMed IDs
lebers congenital amaurosis 82.4 2
retinitis pigmentosa 74.2 8
retinal degeneration 64.1 6
retinopathy 29.5 1
thrombosis 18.8 4

Relevant External Links for MERTK

Genetic Association Database (GAD)
MERTK
Human Genome Epidemiology (HuGE) Navigator
MERTK
genes like me logo Genes that share disorders with MERTK: view

Publications for MERTK Gene

  1. Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa. (PMID: 11062461) Gal A. … Vollrath D. (Nat. Genet. 2000) 3 4 23
  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. (PMID: 12920122) Mahajan N.P. … Earp H.S. (J. Biol. Chem. 2003) 3 4 23
  3. MERTK polymorphisms associated with risk of haematological disorders among Korean SLE patients. (PMID: 16837475) Cheong H.S. … Bae S.C. (Rheumatology (Oxford) 2007) 3 23 48
  4. Cloning and mRNA expression analysis of a novel human protooncogene, c-mer. (PMID: 8086340) Graham D.K. … Earp H.S. (Cell Growth Differ. 1994) 2 3 4
  5. Identification of the major autophosphorylation sites of Nyk/Mer, an NCAM-related receptor tyrosine kinase. (PMID: 8702477) Ling L. … Kung H.J. (J. Biol. Chem. 1996) 3 4

Products for MERTK Gene

  • Addgene plasmids for MERTK

Sources for MERTK Gene

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