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Aliases for MERTK Gene

Aliases for MERTK Gene

  • MER Proto-Oncogene, Tyrosine Kinase 2 3 5
  • 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 61
  • MER 3 4
  • MER Receptor Tyrosine Kinase 3
  • Tyrosine-Protein Kinase Mer 3
  • STK Kinase 3
  • EC 2.7.10 61
  • Tyro12 3
  • C-Eyk 3
  • C-Mer 3
  • RP38 3

External Ids for MERTK Gene

Previous GeneCards Identifiers for MERTK Gene

  • GC02P109892
  • GC02P110577
  • GC02P112563
  • GC02P112751
  • GC02P112372
  • GC02P112656
  • GC02P105169

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 Platelet activation, signaling and aggregation and GPCR Pathway. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is AXL.

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

Regulatory Elements for MERTK Gene

Enhancers for MERTK Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around MERTK on UCSC Golden Path with GeneCards custom track

Promoters for MERTK Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MERTK on UCSC Golden Path with GeneCards custom track

Genomic Location for MERTK Gene

Chromosome:
2
Start:
111,898,479 bp from pter
End:
112,039,953 bp from pter
Size:
141,475 bases
Orientation:
Plus strand

Genomic View for MERTK Gene

Genes around MERTK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MERTK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MERTK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

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).
  • Ubiquitination at Lys 856
  • Glycosylation at Asn 114, Asn 170, Asn 207, Asn 215, Asn 234, Asn 294, Asn 316, Asn 329, Asn 336, Asn 354, Asn 389, Asn 395, Asn 442, and Asn 454
  • Modification sites at PhosphoSitePlus

Other Protein References for MERTK Gene

Assay Products

  • Cloud-Clone Corp Assay Kits for MERTK
  • Abcam assays for MERTK

Domains & Families for MERTK Gene

Suggested Antigen Peptide Sequences for MERTK Gene

Graphical View of Domain Structure for InterPro Entry

Q12866

UniProtKB/Swiss-Prot:

MERTK_HUMAN :
  • Contains 2 fibronectin type-III domains.
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. AXL/UFO subfamily.
Domain:
  • Contains 2 fibronectin type-III domains.
  • Contains 2 Ig-like C2-type (immunoglobulin-like) domains.
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. AXL/UFO subfamily.
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: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

Human Phenotype Ontology for MERTK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MERTK Gene

MGI Knock Outs for MERTK:

Animal Model Products

  • Taconic Biosciences Mouse Models for MERTK

CRISPR Products

miRNA for MERTK Gene

miRTarBase miRNAs that target MERTK

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MERTK

Flow Cytometry Products

No data available for Transcription Factor Targets 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 5
nucleus 2
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1
mitochondrion 1
peroxisome 1
vacuole 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 & Interactions for MERTK Gene

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

SIGNOR curated interactions for MERTK Gene

Activates:
Is activated by:

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

Drugs & Compounds for MERTK Gene

(13) Drugs for MERTK Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
2-(2-HYDROXYETHYLAMINO)-6-(3-CHLOROANILINO)-9-ISOPROPYLPURINE Experimental Pharma Target 0
AT9283 Investigational Pharma inhibitor Aurora kinase/JAK inhibitor, Kinase Inhibitors, Inhibitors of mitosis Aurora kinase inhibitors 0
growth arrest specific protein 6 Pharma 0
UNC2250 Pharma Mer inhibitor,potent and selective 0

(3) Additional Compounds for MERTK Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0

(2) ApexBio Compounds for MERTK Gene

Compound Action Cas Number
UNC2250 Mer inhibitor,potent and selective 1493694-70-4
UNC2881 1493764-08-1
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MERTK

Flow Cytometry Products

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

Protein differential expression in normal tissues from HIPED for MERTK Gene

This gene is overexpressed in Pancreas (39.8), Spleen (8.9), Fetal ovary (8.9), and Testis (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MERTK Gene



Protein tissue co-expression partners for MERTK Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MERTK Gene:

MERTK

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 expression patterns with MERTK: view

Primer Products

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
cow
(Bos Taurus)
Mammalia MERTK 34
  • 83.88 (n)
  • 81.75 (a)
MERTK 35
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MERTK 34
  • 87.78 (n)
  • 86.1 (a)
MERTK 35
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mertk 34
  • 82.63 (n)
  • 81.88 (a)
Mertk 16
Mertk 35
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MERTK 34
  • 99.4 (n)
  • 99.1 (a)
MERTK 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mertk 34
  • 82.5 (n)
  • 81.37 (a)
oppossum
(Monodelphis domestica)
Mammalia MERTK 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MERTK 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves MERTK 34
  • 64.58 (n)
  • 62.83 (a)
MERTK 35
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MERTK 35
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mertk 34
  • 60.12 (n)
  • 56.46 (a)
zebrafish
(Danio rerio)
Actinopterygii mertk 34
  • 56.49 (n)
  • 51.04 (a)
mertk 35
  • 47 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta tor 36
  • 43 (a)
worm
(Caenorhabditis elegans)
Secernentea F11E6.8 36
  • 40 (a)
T14E8.1a 36
  • 30 (a)
T14E8.1b 36
  • 32 (a)
ZK593.9 36
  • 29 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 29 (a)
OneToMany
Species where no ortholog for MERTK was found in the sources mined by GeneCards:
  • 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
rs2230516 - 112,028,457(+) ACGTT(C/T)GGAAC intron-variant, reference, missense
rs35898499 - 111,898,795(+) CGTAG(A/T)GGTGA upstream-variant-2KB, reference, missense
rs13027171 - 111,929,411(+) AATCA(A/G)TGTAC reference, missense
rs7588635 - 111,965,277(+) TCAAA(A/G)GTAAG reference, missense
rs34072093 - 111,968,170(+) CATCC(A/G)TAACA reference, missense

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

Variant ID Type Subtype PubMed ID
dgv4047n100 CNV loss 25217958
dgv4053n100 CNV loss 25217958
dgv7008n54 CNV loss 21841781
esv1040623 CNV insertion 17803354
esv2442067 CNV insertion 19546169
esv2676232 CNV deletion 23128226
esv2759083 CNV gain+loss 17122850
esv2760607 CNV loss 21179565
esv3306804 CNV mobile element insertion 20981092
esv3308640 CNV mobile element insertion 20981092
esv3342812 CNV insertion 20981092
esv3379725 CNV insertion 20981092
esv3423812 CNV insertion 20981092
esv3591999 CNV loss 21293372
esv3592000 CNV loss 21293372
esv3893093 CNV gain 25118596
nsv1149522 OTHER inversion 26484159
nsv213801 CNV deletion 16902084
nsv428402 CNV loss 18775914
nsv476979 CNV novel sequence insertion 20440878
nsv512776 CNV insertion 21212237
nsv515698 CNV loss 19592680
nsv521956 CNV loss 19592680
nsv526647 CNV loss 19592680
nsv582699 CNV loss 21841781
nsv834333 CNV gain 17160897
nsv961870 CNV duplication 23825009
nsv998028 CNV loss 25217958

Variation tolerance for MERTK Gene

Residual Variation Intolerance Score: 50.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.80; 79.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MERTK Gene

Human Gene Mutation Database (HGMD)
MERTK
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MERTK

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

Disorders for MERTK Gene

MalaCards: The human disease database

(7) MalaCards diseases for MERTK Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 38
  • rp38
mertk-related retinitis pigmentosa
  • retinitis pigmentosa 38
retinitis pigmentosa
  • retinitis pigmentosa 1
filamentary keratitis
la crosse encephalitis
  • california encephalitis
- elite association - COSMIC cancer census association via MalaCards
Search MERTK in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for MERTK

Genetic Association Database (GAD)
MERTK
Human Genome Epidemiology (HuGE) Navigator
MERTK
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MERTK
genes like me logo Genes that share disorders with MERTK: view

No data available for Genatlas for MERTK Gene

Publications for MERTK Gene

  1. MERTK polymorphisms associated with risk of haematological disorders among Korean SLE patients. (PMID: 16837475) Cheong H.S. … Bae S.C. (Rheumatology (Oxford) 2007) 3 22 46 65
  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 22 65
  3. 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 22 65
  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 65
  5. Galectin-3 is a new MerTK-specific eat-me signal. (PMID: 21792939) Caberoy N.B. … Li W. (J. Cell. Physiol. 2012) 3 4 65

Products for MERTK Gene

Sources for MERTK Gene

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