Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	10461
Gene name Gene Name - the full gene name approved by the HGNC.	MER proto-oncogene, tyrosine kinase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MERTK
Synonyms (NCBI Gene) Gene synonyms aliases	MER, RP38, Tyro12, c-Eyk, c-mer
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2q13
Summary Summary of gene provided in NCBI Entrez 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 bee

Show/Hide all(35)

SNP ID	Visualize variation	Clinical significance	Consequence
rs2230516	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, missense variant
rs119489105	C>T	Pathogenic	Stop gained, coding sequence variant
rs142985827	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs371956016	G>T	Pathogenic	Splice donor variant
rs373198570	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs387907314	C>T	Pathogenic	Coding sequence variant, stop gained
rs527236083	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs527236084	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs527236134	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs541717028	C>T	Pathogenic	Coding sequence variant, stop gained
rs730880273	A>G	Pathogenic	Splice acceptor variant
rs746238212	C>A,G,T	Likely-pathogenic	Missense variant, synonymous variant, coding sequence variant, stop gained
rs746291728	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs772421550	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs774577413	G>A,C	Likely-pathogenic, pathogenic	Splice donor variant
rs778005207	A>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs778383770	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs786205533	A>T	Likely-pathogenic	Coding sequence variant, stop gained
rs786205534	T>G	Likely-pathogenic	Splice donor variant
rs786205535	C>G	Likely-pathogenic	Coding sequence variant, stop gained
rs863224894	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs878853354	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs878853355	CTC>TT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs886039422	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1309140887	G>A,C	Pathogenic	Splice donor variant
rs1553449458	G>T	Likely-pathogenic	Splice acceptor variant
rs1553454799	G>A	Likely-pathogenic	Intron variant
rs1553458060	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1573554264	G>A	Pathogenic	Splice donor variant
rs1573592033	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1573592124	G>A	Likely-pathogenic	Splice donor variant
rs1573607809	G>A	Likely-pathogenic	Splice donor variant
rs1573613491	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1573627154	T>G	Likely-pathogenic	Splice donor variant
rs1573638426	AGGAC>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(49)

miRTarBase ID	miRNA	Experiments	Reference
MIRT002429	hsa-miR-335-5p	Review	19935707
MIRT002429	hsa-miR-335-5p	Luciferase reporter assay, Microarray	18185580
MIRT006545	hsa-miR-126-3p	ELISA, Flow, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22170610
MIRT006545	hsa-miR-126-3p	ELISA, Flow, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22170610
MIRT006545	hsa-miR-126-3p	ELISA, Flow, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22170610
MIRT002429	hsa-miR-335-5p	Microarray;Other	18185580
MIRT031965	hsa-miR-16-5p	Proteomics	18668040
MIRT006545	hsa-miR-126-3p	Microarray, qRT-PCR	35816043
MIRT1143064	hsa-miR-181a	CLIP-seq
MIRT1143065	hsa-miR-181b	CLIP-seq
MIRT1143066	hsa-miR-181c	CLIP-seq
MIRT1143067	hsa-miR-181d	CLIP-seq
MIRT1143068	hsa-miR-3907	CLIP-seq
MIRT1143069	hsa-miR-4260	CLIP-seq
MIRT1143070	hsa-miR-4262	CLIP-seq
MIRT1143071	hsa-miR-4299	CLIP-seq
MIRT1143072	hsa-miR-4456	CLIP-seq
MIRT1143073	hsa-miR-543	CLIP-seq
MIRT1143074	hsa-miR-548q	CLIP-seq
MIRT1143064	hsa-miR-181a	CLIP-seq
MIRT1143065	hsa-miR-181b	CLIP-seq
MIRT1143066	hsa-miR-181c	CLIP-seq
MIRT1143067	hsa-miR-181d	CLIP-seq
MIRT2270426	hsa-miR-2277-3p	CLIP-seq
MIRT2270427	hsa-miR-3614-5p	CLIP-seq
MIRT2270428	hsa-miR-362-5p	CLIP-seq
MIRT2270429	hsa-miR-3691-3p	CLIP-seq
MIRT1143068	hsa-miR-3907	CLIP-seq
MIRT1143069	hsa-miR-4260	CLIP-seq
MIRT1143070	hsa-miR-4262	CLIP-seq
MIRT1143071	hsa-miR-4299	CLIP-seq
MIRT1143072	hsa-miR-4456	CLIP-seq
MIRT2270430	hsa-miR-4480	CLIP-seq
MIRT2270431	hsa-miR-4643	CLIP-seq
MIRT2270432	hsa-miR-4653-3p	CLIP-seq
MIRT2270433	hsa-miR-466	CLIP-seq
MIRT2270434	hsa-miR-4786-3p	CLIP-seq
MIRT2270435	hsa-miR-4789-3p	CLIP-seq
MIRT2270436	hsa-miR-4789-5p	CLIP-seq
MIRT2270437	hsa-miR-500b	CLIP-seq
MIRT2270438	hsa-miR-501-5p	CLIP-seq
MIRT2270439	hsa-miR-511	CLIP-seq
MIRT1143073	hsa-miR-543	CLIP-seq
MIRT1143074	hsa-miR-548q	CLIP-seq
MIRT2270440	hsa-miR-587	CLIP-seq
MIRT2390814	hsa-miR-2053	CLIP-seq
MIRT2390815	hsa-miR-3664-5p	CLIP-seq
MIRT2390816	hsa-miR-569	CLIP-seq
MIRT2390817	hsa-miR-889	CLIP-seq

Show/Hide all(44)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0001779	Process	Natural killer cell differentiation	IEA
GO:0001818	Process	Negative regulation of cytokine production	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IBA
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IEA
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	TAS	8086340
GO:0005515	Function	Protein binding	IPI	20103767
GO:0005524	Function	ATP binding	IEA
GO:0005615	Component	Extracellular space	IDA	18395422
GO:0005737	Component	Cytoplasm	IDA	18395422, 19204785
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8086340
GO:0006468	Process	Protein phosphorylation	TAS	8086340
GO:0006909	Process	Phagocytosis	IBA
GO:0006909	Process	Phagocytosis	IEA
GO:0006909	Process	Phagocytosis	IMP	19204785
GO:0007166	Process	Cell surface receptor signaling pathway	TAS	8086340
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IBA
GO:0007267	Process	Cell-cell signaling	TAS	8086340
GO:0007283	Process	Spermatogenesis	IEA
GO:0007399	Process	Nervous system development	IBA
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016477	Process	Cell migration	IBA
GO:0016740	Function	Transferase activity	IEA
GO:0030168	Process	Platelet activation	IEA
GO:0032940	Process	Secretion by cell	IEA
GO:0034446	Process	Substrate adhesion-dependent cell spreading	IEA
GO:0043235	Component	Receptor complex	IBA
GO:0043277	Process	Apoptotic cell clearance	IEA
GO:0046649	Process	Lymphocyte activation	IEA
GO:0050766	Process	Positive regulation of phagocytosis	IDA	18395422
GO:0050766	Process	Positive regulation of phagocytosis	IEA
GO:0051250	Process	Negative regulation of lymphocyte activation	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060068	Process	Vagina development	IEA
GO:0097350	Process	Neutrophil clearance	IEA
GO:2000107	Process	Negative regulation of leukocyte apoptotic process	IMP	23353780

MIM	HGNC	e!Ensembl
604705	7027	ENSG00000153208

Protein

UniProt ID

Q12866

Protein name

Tyrosine-protein kinase Mer (EC 2.7.10.1) (Proto-oncogene c-Mer) (Receptor tyrosine kinase MerTK)

Protein 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, diff

PDB

2DBJ , 2P0C , 3BPR , 3BRB , 3TCP , 4M3Q , 4MH7 , 4MHA , 5K0K , 5K0X , 5TC0 , 5TD2 , 5U6C , 6MEP , 7AAX , 7AAY , 7AAZ , 7AB0 , 7AB1 , 7AB2 , 7AVX , 7AVY , 7AVZ , 7AW0 , 7AW1 , 7AW2 , 7AW3 , 7AW4 , 7CQE , 7DXL , 7M5Z , 7OAM , 7OLS , 7OLV , 7OLX , 7XHY , 9BHI , 9BHJ , 9BHK

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00047	ig	102 → 187	Immunoglobulin domain	Domain
PF13927	Ig_3	197 → 266		Domain
PF00041	fn3	285 → 371	Fibronectin type III domain	Domain
PF07714	PK_Tyr_Ser-Thr	587 → 854	Protein tyrosine and serine/threonine kinase	Domain

Tissue specificity

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

Sequence

MGPAPLPLLLGLFLPALWRRAITEAREEAKPYPLFPGPFPGSLQTDHTPLLSLPHASGYQ
PALMFSPTQPGRPHTGNVAIPQVTSVESKPLPPLAFKHTVGHIILSEHKGVKFNCSISVP
NIYQDTTISWWKDGKELLGAHHAITQFYPDDEVTAIIASFSITSVQRSDNGSYICKMKIN
NEEIVSDPIYIEVQGLPHFTKQPESMNVTRNTAFNLTCQAVGPPEPVNIFWVQNSSRVNE
QPEKSPSVLTVPGLTEMAVFSCEAHNDKGLTVSKGVQINIKAIPSPPTEVSIRNSTAHSI
LISWVPGFDGYSPFRNCSIQVKEADPLSNGSVMIFNTSALPHLYQIKQLQALANYSIGVS
CMNEIGWSAVSPWILASTTEGAPSVAPLNVTVFLNESSDNVDIRWMKPPTKQQDGELVGY
RISHVWQSAGISKELLEEVGQNGSRARISVQVHNATCTVRIAAVTRGGVGPFSDPVKIFI
PAHGWVDYAPSSTPAPGNADPVLIIFGCFCGFILIGLILYISLAIRKRVQETKFGNAFTE
EDSELVVNYIAKKSFCRRAIELTLHSLGVSEELQNKLEDVVIDRNLLILGKILGEGEFGS
VMEGNLKQEDGTSLKVAVKTMKLDNSSQREIEEFLSEAACMKDFSHPNVIRLLGVCIEMS
SQGIPKPMVILPFMKYGDLHTYLLYSRLETGPKHIPLQTLLKFMVDIALGMEYLSNRNFL
HRDLAARNCMLRDDMTVCVADFGLSKKIYSGDYYRQGRIAKMPVKWIAIESLADRVYTSK
SDVWAFGVTMWEIATRGMTPYPGVQNHEMYDYLLHGHRLKQPEDCLDELYEIMYSCWRTD
PLDRPTFSVLRLQLEKLLESLPDVRNQADVIYVNTQLLESSEGLAQGSTLAPLDLNIDPD
SIIASCTPRAAISVVTAEVHDSKPHEGRYILNGGSEEWEDLTSAPSAAVTAEKNSVLPGE
RLVRNGVSWSHSSMLPLGSSLPDELLFADDSSEGSEVLM

Sequence length

999

Interactions

View interactions

	KEGG		Reactome
	Efferocytosis		Cell surface interactions at the vascular wall

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
retinal dystrophy	Retinal dystrophy	rs878853354, rs119489105, rs1684627892, rs1684979540, rs878853353, rs1309140887, rs371956016, rs746291728, rs1252719064, rs774755041, rs1676904823, rs772421550, rs775776288, rs730880273, rs541717028 View all (5 more)	N/A
Retinitis Pigmentosa	Retinitis pigmentosa 38, retinitis pigmentosa, Autosomal recessive retinitis pigmentosa	rs1487540503, rs1553454799, rs778383770, rs527236083, rs878853354, rs1309140887, rs371956016, rs746291728, rs527236134, rs786205533, rs878853353, rs1573592033, rs774577413, rs886039422, rs772421550 View all (19 more)	N/A

Show/Hide Unknown Diseases (7)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Coronary artery disease	Coronary artery disease	N/A	N/A	GWAS
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Gout	Gout	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Multiple Sclerosis	Multiple sclerosis	N/A	N/A	GWAS
Myocardial Infarction	Myocardial infarction	N/A	N/A	GWAS
Optic Atrophy	optic atrophy	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (105)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
AA amyloidosis	Associate	29530050
Acute On Chronic Liver Failure	Associate	25479139
Adenoma	Stimulate	35260162
Adenoma Pleomorphic	Associate	33727696
Alzheimer Disease	Associate	29530050
Arthritis Rheumatoid	Inhibit	2969703
Arthritis Rheumatoid	Associate	38283352
Atherosclerosis	Associate	22942426
Atrophy	Associate	20300561
Autoimmune Diseases	Stimulate	28727830
Blood Coagulation Disorders	Associate	37673933
Blood Platelet Disorders	Associate	33114206
Brain Neoplasms	Associate	8692923
Breast Neoplasms	Associate	25074939
Carcinogenesis	Stimulate	20423999
Carcinogenesis	Associate	35728303
Carcinoma Hepatocellular	Associate	32955083, 35728303, 36003399
Carcinoma Non Small Cell Lung	Associate	25372020, 25826078, 35708914
Carcinoma Renal Cell	Associate	36216827
Cardiomyopathy Dilated	Associate	39762897
Cholestasis Extrahepatic	Associate	25479139
Cluster Headache	Associate	34180076, 36404298
Colitis	Associate	28727830
Colorectal Neoplasms	Associate	29101300
Communicable Diseases	Associate	31075180
Cone Rod Dystrophies	Associate	20300561, 29555955
Coronary Artery Disease	Associate	33761885
COVID 19	Associate	33254534, 35145507, 36924127
Demyelinating Autoimmune Diseases CNS	Associate	38150649
Demyelinating Diseases	Associate	21347448, 26990204
Diabetes Mellitus	Inhibit	28668213
Diabetes Mellitus Type 1	Associate	30978214
Diabetic Nephropathies	Associate	28668213
Disease	Associate	24807792
Endometrial Neoplasms	Associate	36965901
Eye Diseases	Associate	32976546
Fibrosis	Associate	22841784, 33512463, 36003399
Giant Cell Tumor of Tendon Sheath	Associate	33727696
Glioblastoma	Associate	27783662
Glioma	Associate	24410805
Graft vs Host Disease	Associate	31300420
Head and Neck Neoplasms	Associate	27081701
Hearing Loss	Associate	33353011
Hepatitis C	Associate	22841784
Hepatitis C Chronic	Associate	36003399
Idiopathic Pulmonary Fibrosis	Associate	31221805
Immunoglobulin G4 Related Disease	Associate	33512463
Immunologic Deficiency Syndromes	Inhibit	28246391
Inflammation	Associate	22907951, 22942426, 25479139, 28727830, 29530050, 31075180, 33512463, 36003399, 37671615, 38283352
Inflammation	Inhibit	29359540
Leber Congenital Amaurosis	Associate	20300561, 21602930, 30416334
Leukemia	Associate	19922767, 22363695, 36960055
Leukemia Lymphocytic Chronic B Cell	Associate	6956889
Leukemia Myeloid Acute	Associate	23474756, 36960055
Leukoplakia Hairy	Stimulate	15479819
Lewy Body Disease	Associate	37671615
Liver Cirrhosis	Associate	22841784, 36003399
Liver Diseases	Associate	30978214, 36003399
Liver Diseases Alcoholic	Associate	30978214
Lung Neoplasms	Associate	33114206
Lupus Erythematosus Systemic	Associate	22942426, 24325951, 24741600, 25878564
Lupus Erythematosus Systemic	Stimulate	24650765
Macrophage Activation Syndrome	Associate	30713533
Melanoma	Associate	16946712, 23617806, 35007555
Meningioma	Associate	38102708, 39179860
MINOCA	Associate	33761885
Multiple Myeloma	Associate	28154173, 35967396
Multiple Sclerosis	Stimulate	19541935
Multiple Sclerosis	Associate	21347448, 38150649
Multiple Sclerosis	Inhibit	26990204
Neoplasm Metastasis	Associate	34830178
Neoplasms	Associate	20423999, 22363695, 22942426, 24326683, 25074939, 25826078, 27081701, 27231203, 27783662, 28034848, 28727830, 33101282, 33114206, 35007555, 35708914 View all (7 more)
Neoplasms	Stimulate	35728303
Neoplastic Syndromes Hereditary	Associate	30416334
Neuhauser syndrome	Associate	8855970
Neurilemmoma	Associate	39179860
Night Blindness	Associate	33353011
Non alcoholic Fatty Liver Disease	Associate	30978214
Osteosarcoma	Associate	39174890
Pancreatic Neoplasms	Associate	23872419, 37628967
Parkinson Disease	Associate	37671615
Patterned dystrophy of retinal pigment epithelium	Associate	33672445
Peri Implantitis	Associate	34858391
Personality Disorders	Associate	35007555
Pheochromocytoma	Associate	26700204
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	19922767
Rectal Diseases	Associate	37387515
Retinal Degeneration	Associate	11727200, 33252167
Retinal Diseases	Associate	16714263, 38184646
Retinal Dystrophies	Associate	11727200, 16714263, 20300561, 21677792, 24625443, 30416334, 33173045, 33353011, 34996991, 37165311
Retinitis Pigmentosa	Associate	16710167, 20300561, 20538656, 21677792, 22128245, 26147992, 27122965, 28246391, 28462455, 30416333, 30612079, 30790467, 32160519, 32976546, 33242397, 33353011, 33609509, 33672445 View all (3 more)
Segmentation syndrome 1	Associate	33242397
Squamous Cell Carcinoma of Head and Neck	Associate	27081701
Stroke	Associate	37673933
Synucleinopathies	Associate	37671615
Thrombotic Microangiopathies	Associate	31300420
Thyroid cancer medullary	Associate	26700204
Thyroid Cancer Papillary	Associate	37733241
Triple Negative Breast Neoplasms	Associate	27231203
Turcot syndrome	Associate	8855970
Uveal melanoma	Associate	37506796
Uveitis Anterior	Associate	32492107
Vascular Diseases	Associate	31300420
Virus Diseases	Associate	37673933
Vision Disorders	Associate	27122965, 30790467, 32160519

MERTK (MER proto-oncogene, tyrosine kinase)