Gene Gene information from NCBI Gene database.
Entrez ID 10461
Gene name MER proto-oncogene, tyrosine kinase
Gene symbol MERTK
Synonyms (NCBI Gene)
MERRP38Tyro12c-Eykc-mer
Chromosome 2
Chromosome location 2q13
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 bee
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
49
miRTarBase ID miRNA Experiments Reference
MIRT002429 hsa-miR-335-5p Review 19935707
MIRT002429 hsa-miR-335-5p Luciferase reporter assayMicroarray 18185580
MIRT006545 hsa-miR-126-3p ELISAFlowImmunohistochemistryLuciferase reporter assayMicroarrayqRT-PCRWestern blot 22170610
MIRT006545 hsa-miR-126-3p ELISAFlowImmunohistochemistryLuciferase reporter assayMicroarrayqRT-PCRWestern blot 22170610
MIRT006545 hsa-miR-126-3p ELISAFlowImmunohistochemistryLuciferase reporter assayMicroarrayqRT-PCRWestern blot 22170610
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604705 7027 ENSG00000153208
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
NEEIVSD
PIYIEVQGLPHFTKQPESMNVTRNTAFNLTCQAVGPPEPVNIFWVQNSSRVNE
QPEKSPSVLTVPGLTEMAVFSCEAHN
DKGLTVSKGVQINIKAIPSPPTEVSIRNSTAHSI
LISWVPGFDGYSPFRNCSIQVKEADPLSNGSVMIFNTSALPHLYQIKQLQALANYSIGVS
CMNEIGWSAVS
PWILASTTEGAPSVAPLNVTVFLNESSDNVDIRWMKPPTKQQDGELVGY
RISHVWQSAGISKELLEEVGQNGSRARISVQVHNATCTVRIAAVTRGGVGPFSDPVKIFI
PAHGWVDYAPSSTPAPGNADPVLIIFGCFCGFILIGLILYISLAIRKRVQETKFGNAFTE
EDSELVVNYIAKKSFCRRAIELTLHSLGVSEELQNKLEDVVIDRNLLILGKILGEGEFGS
VMEGNLKQEDGTSLKVAVKTMKLDNSSQREIEEFLSEAACMKDFSHPNVIRLLGVCIEMS
SQGIPKPMVILPFMKYGDLHTYLLYSRLETGPKHIPLQTLLKFMVDIALGMEYLSNRNFL
HRDLAARNCMLRDDMTVCVADFGLSKKIYSGDYYRQGRIAKMPVKWIAIESLADRVYTSK
SDVWAFGVTMWEIATRGMTPYPGVQNHEMYDYLLHGHRLKQPEDCLDELYEIMYSCWRTD
PLDRPTFSVLRLQL
EKLLESLPDVRNQADVIYVNTQLLESSEGLAQGSTLAPLDLNIDPD
SIIASCTPRAAISVVTAEVHDSKPHEGRYILNGGSEEWEDLTSAPSAAVTAEKNSVLPGE
RLVRNGVSWSHSSMLPLGSSLPDELLFADDSSEGSEVLM
Sequence length 999
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Efferocytosis   Cell surface interactions at the vascular wall
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
402
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal recessive retinitis pigmentosa Pathogenic; Likely pathogenic rs890258715, rs786205533, rs786205534, rs786205535, rs119489105, rs371956016, rs886039422, rs387907314, rs776644374, rs1676689811, rs1677065097, rs911057284 RCV003108009
RCV001257798
RCV001257900
RCV001257796
RCV001257901
RCV001257903
RCV001257795
RCV001257797
RCV001257898
RCV001257899
RCV001257902
RCV001257904
Clear cell carcinoma of kidney Pathogenic rs371956016 RCV005887321
MERTK-related disorder Likely pathogenic; Pathogenic rs772421550, rs1573613491 RCV004756037
RCV003413772
Ovarian serous cystadenocarcinoma Likely pathogenic; Pathogenic rs774577413 RCV005912254
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Conflicting classifications of pathogenicity; Benign; Likely benign rs35898499, rs7588635 RCV005886507
RCV005895905
Adrenocortical carcinoma, hereditary Conflicting classifications of pathogenicity rs35898499 RCV005886510
Cervical cancer Conflicting classifications of pathogenicity; Benign; Likely benign rs35898499, rs3761702, rs7588635 RCV005886511
RCV005894905
RCV005895908
Cholangiocarcinoma Benign; Likely benign rs7588635 RCV005895914
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
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