FLT3 (fms related receptor tyrosine kinase 3)

Gene

• Entrez ID: 2322
• Gene name: Fms related receptor tyrosine kinase 3
• Gene symbol: FLT3
• Synonyms: CD135, FLK-2, FLK2, STK1
• Chromosome: 13
• Chromosome location: 13q12.2
• Summary: This gene encodes a class III receptor tyrosine kinase that regulates hematopoiesis. This receptor is activated by binding of the fms-related tyrosine kinase 3 ligand to the extracellular domain, which induces homodimer formation in the plasma membrane le

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121909646	T>A,G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121913232	G>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121913486	ATC>-	Pathogenic-likely-pathogenic	Inframe deletion, non coding transcript variant, coding sequence variant
rs121913487	A>C,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121913488	C>A,G,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121913490	GAT>-	Likely-pathogenic	Inframe deletion, non coding transcript variant, coding sequence variant
rs121913491	T>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs376588714	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs398122514	->TCCGGA	Pathogenic	Coding sequence variant, non coding transcript variant, inframe insertion
rs587776834	TCA>-	Pathogenic	Non coding transcript variant, inframe deletion, coding sequence variant
rs749281035	G>A,T	Likely-pathogenic	Non coding transcript variant, synonymous variant, missense variant, coding sequence variant
rs772061268	T>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs864321619	->CATATTCTCTGAAATCAACGT	Pathogenic	Inframe insertion, coding sequence variant, non coding transcript variant
rs991132188	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057519726	T>A,C,G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057519762	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057519763	TC>AA	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057519764	A>C,T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057519765	T>A,C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057519766	G>C,T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057519767	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057519768	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057519769	C>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057520021	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057520022	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057520023	A>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057520024	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057520025	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057520026	T>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057520043	A>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1208575764	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1555256794	G>-	Drug-response	5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT007053	hsa-miR-150-5p	Luciferase reporter assay	23079661
MIRT017462	hsa-miR-335-5p	Microarray	18185580
MIRT999065	hsa-miR-15a	CLIP-seq
MIRT999066	hsa-miR-15b	CLIP-seq
MIRT999067	hsa-miR-16	CLIP-seq
MIRT999068	hsa-miR-195	CLIP-seq
MIRT999069	hsa-miR-3161	CLIP-seq
MIRT999070	hsa-miR-424	CLIP-seq
MIRT999071	hsa-miR-4299	CLIP-seq
MIRT999072	hsa-miR-4456	CLIP-seq
MIRT999073	hsa-miR-497	CLIP-seq
MIRT999074	hsa-miR-548q	CLIP-seq
MIRT999065	hsa-miR-15a	CLIP-seq
MIRT999066	hsa-miR-15b	CLIP-seq
MIRT999067	hsa-miR-16	CLIP-seq
MIRT999068	hsa-miR-195	CLIP-seq
MIRT999069	hsa-miR-3161	CLIP-seq
MIRT999070	hsa-miR-424	CLIP-seq
MIRT999071	hsa-miR-4299	CLIP-seq
MIRT999072	hsa-miR-4456	CLIP-seq
MIRT999073	hsa-miR-497	CLIP-seq
MIRT999074	hsa-miR-548q	CLIP-seq
MIRT2681049	hsa-miR-3140-3p	CLIP-seq
MIRT2681050	hsa-miR-3924	CLIP-seq
MIRT2681051	hsa-miR-4699-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
PML	Activation	17124055
STAT3	Activation	16418395

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	TAS
GO:0001776	Process	Leukocyte homeostasis	ISS
GO:0002318	Process	Myeloid progenitor cell differentiation	ISS
GO:0002328	Process	Pro-B cell differentiation	ISS
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IBA	21873635
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	TAS	19549778
GO:0004896	Function	Cytokine receptor activity	ISS
GO:0005021	Function	Vascular endothelial growth factor-activated receptor activity	TAS	8394751
GO:0005515	Function	Protein binding	IPI	16982329, 20098747, 23246379, 23650535, 24525236, 27458164, 28086240
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0007169	Process	Transmembrane receptor protein tyrosine kinase signaling pathway	IBA	21873635
GO:0007275	Process	Multicellular organism development	IBA	21873635
GO:0008284	Process	Positive regulation of cell population proliferation	TAS	19549778
GO:0010243	Process	Response to organonitrogen compound	IEA
GO:0014068	Process	Positive regulation of phosphatidylinositol 3-kinase signaling	TAS	12951584
GO:0016032	Process	Viral process	IEA
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	TAS	19549778
GO:0019221	Process	Cytokine-mediated signaling pathway	IBA	21873635
GO:0019221	Process	Cytokine-mediated signaling pathway	ISS
GO:0019221	Process	Cytokine-mediated signaling pathway	TAS
GO:0019838	Function	Growth factor binding	IBA	21873635
GO:0030097	Process	Hemopoiesis	IDA	7507245
GO:0030183	Process	B cell differentiation	IBA	21873635
GO:0030183	Process	B cell differentiation	ISS
GO:0031100	Process	Animal organ regeneration	IEA
GO:0033674	Process	Positive regulation of kinase activity	IBA	21873635
GO:0035259	Function	Glucocorticoid receptor binding	IEA
GO:0035726	Process	Common myeloid progenitor cell proliferation	ISS
GO:0038084	Process	Vascular endothelial growth factor signaling pathway	IEA
GO:0042531	Process	Positive regulation of tyrosine phosphorylation of STAT protein	TAS	19549778
GO:0042981	Process	Regulation of apoptotic process	TAS	19549778
GO:0043235	Component	Receptor complex	IBA	21873635
GO:0043406	Process	Positive regulation of MAP kinase activity	TAS	19549778
GO:0043410	Process	Positive regulation of MAPK cascade	TAS	19549778
GO:0043552	Process	Positive regulation of phosphatidylinositol 3-kinase activity	TAS	12951584
GO:0043621	Function	Protein self-association	IMP	14759363
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0046651	Process	Lymphocyte proliferation	ISS
GO:0046777	Process	Protein autophosphorylation	TAS	19549778
GO:0071345	Process	Cellular response to cytokine stimulus	ISS
GO:0071345	Process	Cellular response to cytokine stimulus	TAS	19549778
GO:0071385	Process	Cellular response to glucocorticoid stimulus	IEA
GO:0097028	Process	Dendritic cell differentiation	ISS

Other IDs

• MIM: 136351
• HGNC: 3765
• e!Ensembl: ENSG00000122025

Protein

• UniProt ID: P36888
• Protein name: Receptor-type tyrosine-protein kinase FLT3 (EC 2.7.10.1) (FL cytokine receptor) (Fetal liver kinase-2) (FLK-2) (Fms-like tyrosine kinase 3) (FLT-3) (Stem cell tyrosine kinase 1) (STK-1) (CD antigen CD135)
• Protein function: Tyrosine-protein kinase that acts as a cell-surface receptor for the cytokine FLT3LG and regulates differentiation, proliferation and survival of hematopoietic progenitor cells and of dendritic cells. Promotes phosphorylation of SHC1 and AKT1, a
• PDB: 1RJB, 3QS7, 3QS9, 4RT7, 4XUF, 5X02, 6IL3, 6JQR, 7QDP, 7ZV9, 8XB1
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00047	ig	255 → 345	Immunoglobulin domain	Domain
  PF07714	PK_Tyr_Ser-Thr	610 → 943	Protein tyrosine and serine/threonine kinase	Domain

• Sequence:

  MPALARDGGQLPLLVVFSAMIFGTITNQDLPVIKCVLINHKNNDSSVGKSSSYPMVSESP
  EDLGCALRPQSSGTVYEAAAVEVDVSASITLQVLVDAPGNISCLWVFKHSSLNCQPHFDL
  QNRGVVSMVILKMTETQAGEYLLFIQSEATNYTILFTVSIRNTLLYTLRRPYFRKMENQD
  ALVCISESVPEPIVEWVLCDSQGESCKEESPAVVKKEEKVLHELFGTDIRCCARNELGRE
  CTRLFTIDLNQTPQTTLPQLFLKVGEPLWIRCKAVHVNHGFGLTWELENKALEEGNYFEM
  STYSTNRTMIRILFAFVSSVARNDTGYYTCSSSKHPSQSALVTIVEKGFINATNSSEDYE
  IDQYEEFCFSVRFKAYPQIRCTWTFSRKSFPCEQKGLDNGYSISKFCNHKHQPGEYIFHA
  ENDDAQFTKMFTLNIRRKPQVLAEASASQASCFSDGYPLPSWTWKKCSDKSPNCTEEITE
  GVWNRKANRKVFGQWVSSSTLNMSEAIKGFLVKCCAYNSLGTSCETILLNSPGPFPFIQD
  NISFYATIGVCLLFIVVLTLLICHKYKKQFRYESQLQMVQVTGSSDNEYFYVDFREYEYD
  LKWEFPRENLEFGKVLGSGAFGKVMNATAYGISKTGVSIQVAVKMLKEKADSSEREALMS
  ELKMMTQLGSHENIVNLLGACTLSGPIYLIFEYCCYGDLLNYLRSKREKFHRTWTEIFKE
  HNFSFYPTFQSHPNSSMPGSREVQIHPDSDQISGLHGNSFHSEDEIEYENQKRLEEEEDL
  NVLTFEDLLCFAYQVAKGMEFLEFKSCVHRDLAARNVLVTHGKVVKICDFGLARDIMSDS
  NYVVRGNARLPVKWMAPESLFEGIYTIKSDVWSYGILLWEIFSLGVNPYPGIPVDANFYK
  LIQNGFKMDQPFYATEEIYIIMQSCWAFDSRKRPSFPNLTSFLGCQLADAEEAMYQNVDG
  RVSECPHTYQNRRPFSREMDLGLLSPQAQVEDS

• Sequence length: 993