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

Gene ID: 10461, updated on 11-Oct-2020

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
109.20200815 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, 7SL, cytoplasmic 297, pseudogene Neighboring gene SLC30A6 pseudogene 1 Neighboring gene RTRAF pseudogene 1 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
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
GeneReviews: Not available
Genome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection.
GeneReviews: Not available
Retinitis pigmentosa 38 Compare labs

Pathways from PubChem

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
 
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 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 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
 
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 Updated Annotation Release 109.20200815

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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