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

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; AllianceGenome:HGNC:7027
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: mouse all
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Genomic context

Location:: 2q13

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (111898607..112029561)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (112325012..112456507)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (112656184..112787138)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Important Role of Phosphatidylserine, ADAM17, TNF-Alpha, and Soluble MER on Efferocytosis Activity in Central Obesity.
Title: The Important Role of Phosphatidylserine, ADAM17, TNF-Alpha, and Soluble MER on Efferocytosis Activity in Central Obesity.
Axl and MerTK regulate synovial inflammation and are modulated by IL-6 inhibition in rheumatoid arthritis.
Title: Axl and MerTK regulate synovial inflammation and are modulated by IL-6 inhibition in rheumatoid arthritis.
Semaphorin3B promotes an anti-inflammatory and pro-resolving phenotype in macrophages from rheumatoid arthritis patients in a MerTK-dependent manner.
Title: Semaphorin3B promotes an anti-inflammatory and pro-resolving phenotype in macrophages from rheumatoid arthritis patients in a MerTK-dependent manner.
Big data analytics for MerTK genomics reveals its double-edged sword functions in human diseases.
Title: Big data analytics for MerTK genomics reveals its double-edged sword functions in human diseases.
Disruption of MerTK increases the efficacy of checkpoint inhibitor by enhancing ferroptosis and immune response in hepatocellular carcinoma.
Title: Disruption of MerTK increases the efficacy of checkpoint inhibitor by enhancing ferroptosis and immune response in hepatocellular carcinoma.
MerTK is a mediator of alpha-synuclein fibril uptake by human microglia.
Title: MerTK is a mediator of alpha-synuclein fibril uptake by human microglia.
HLA-DRB1*15:01 and the MERTK Gene Interact to Selectively Influence the Profile of MERTK-Expressing Monocytes in Both Health and MS.
Title: HLA-DRB1*15:01 and the MERTK Gene Interact to Selectively Influence the Profile of MERTK-Expressing Monocytes in Both Health and MS.
Regulation of brain endothelial cell physiology by the TAM receptor tyrosine kinase Mer.
Title: Regulation of brain endothelial cell physiology by the TAM receptor tyrosine kinase Mer.
Elevated expression of macrophage MERTK exhibits profibrotic effects and results in defective regulation of efferocytosis function in pulmonary fibrosis.
Title: Elevated expression of macrophage MERTK exhibits profibrotic effects and results in defective regulation of efferocytosis function in pulmonary fibrosis.
MERTK missense variants in three patients with retinitis pigmentosa.
Title: MERTK missense variants in three patients with retinitis pigmentosa.

Submit: New GeneRIF Correction See all GeneRIFs (154)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Retinitis pigmentosa 38 MedGen: C3151228 OMIM: 613862 GeneReviews: Nonsyndromic Retinitis Pigmentosa Overview	Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH70546 (e-PCR)
- UniSTS:29192

RH121080 (e-PCR)
- UniSTS:132367

SHGC-148485 (e-PCR)
- UniSTS:176420

SHGC-86295 (e-PCR)
- UniSTS:104514

SHGC-153615 (e-PCR)
- UniSTS:183369

D2S1896 (e-PCR), detects polymorphism
- UniSTS:45147

STS-U08023 (e-PCR)
- UniSTS:33373

D2S1987 (e-PCR)
- UniSTS:14468

SHGC-37233 (e-PCR)
- UniSTS:13970

D14S1201 (e-PCR)
- UniSTS:78514

MERTK (e-PCR)
- UniSTS:505021

GDB:372731 (e-PCR)
- UniSTS:156891

D2S212E (e-PCR)
- UniSTS:56555

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane receptor protein tyrosine kinase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell surface receptor protein tyrosine kinase signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell surface receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in cell-cell signaling	TAS Traceable Author Statement more info	PubMed
involved_in establishment of localization in cell	IEA Inferred from Electronic Annotation more info
involved_in multicellular organism development	IBA Inferred from Biological aspect of Ancestor more info
involved_in natural killer cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cytokine production	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of leukocyte apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of lymphocyte activation	IEA Inferred from Electronic Annotation more info
involved_in nervous system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in neutrophil clearance	IEA Inferred from Electronic Annotation more info
involved_in phagocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in phagocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in platelet activation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of kinase activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of phagocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA Inferred from Electronic Annotation more info
involved_in protein phosphorylation	TAS Traceable Author Statement more info	PubMed
involved_in retina development in camera-type eye	IEA Inferred from Electronic Annotation more info
involved_in secretion by cell	IEA Inferred from Electronic Annotation more info
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info
involved_in substrate adhesion-dependent cell spreading	IEA Inferred from Electronic Annotation more info
involved_in vagina development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor outer segment	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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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

EC 2.7.10.1

NCBI Reference Sequences (RefSeq)

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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

NG_011607.1 RefSeqGene

Range

4994..135948

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_006343.3 → NP_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, Q9HBB4

UniProtKB/TrEMBL

B2RE75

Related

ENSP00000295408.4, ENST00000295408.9

Conserved Domains (7) summary

cd00096
Location:111 → 176

Ig; Immunoglobulin domain

cd05749
Location:199 → 279

Ig2_Tyro3_like; Second immunoglobulin (Ig)-like domain of Axl/Tyro3 receptor tyrosine kinases (RTKs)

smart00409
Location:111 → 193

IG; Immunoglobulin

smart00410
Location:203 → 280

IG_like; Immunoglobulin like

cd00063
Location:284 → 378

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:579 → 862

PTKc_Mer; Catalytic Domain of the Protein Tyrosine Kinase, Mer

pfam07714
Location:587 → 854

Pkinase_Tyr; Protein tyrosine kinase