Gene Gene information from NCBI Gene database.
Entrez ID 2322
Gene name Fms related receptor tyrosine kinase 3
Gene symbol FLT3
Synonyms (NCBI Gene)
CD135FLK-2FLK2STK1
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 information provided by dbSNP.
32
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
miRNA miRNA information provided by mirtarbase database.
25
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
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
PML Activation 17124055
STAT3 Activation 16418395
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
60
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001776 Process Leukocyte homeostasis ISS
GO:0002318 Process Myeloid progenitor cell differentiation ISS
GO:0002328 Process Pro-B cell differentiation ISS
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
136351 3765 ENSG00000122025
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Tissue specificity TISSUE SPECIFICITY: Detected in bone marrow, in hematopoietic stem cells, in myeloid progenitor cells and in granulocyte/macrophage progenitor cells (at protein level). Detected in bone marrow, liver, thymus, spleen and lymph node, and at low levels in ki
Sequence
MPALARDGGQLPLLVVFSAMIFGTITNQDLPVIKCVLINHKNNDSSVGKSSSYPMVSESP
EDLGCALRPQSSGTVYEAAAVEVDVSASITLQVLVDAPGNISCLWVFKHSSLNCQPHFDL
QNRGVVSMVILKMTETQAGEYLLFIQSEATNYTILFTVSIRNTLLYTLRRPYFRKMENQD
ALVCISESVPEPIVEWVLCDSQGESCKEESPAVVKKEEKVLHELFGTDIRCCARNELGRE
CTRLFTIDLNQTPQTTLPQLFLKVGEPLWIRCKAVHVNHGFGLTWELENKALEEGNYFEM
STYSTNRTMIRILFAFVSSVARNDTGYYTCSSSKHPSQSALVTIV
EKGFINATNSSEDYE
IDQYEEFCFSVRFKAYPQIRCTWTFSRKSFPCEQKGLDNGYSISKFCNHKHQPGEYIFHA
ENDDAQFTKMFTLNIRRKPQVLAEASASQASCFSDGYPLPSWTWKKCSDKSPNCTEEITE
GVWNRKANRKVFGQWVSSSTLNMSEAIKGFLVKCCAYNSLGTSCETILLNSPGPFPFIQD
NISFYATIGVCLLFIVVLTLLICHKYKKQFRYESQLQMVQVTGSSDNEYFYVDFREYEYD
LKWEFPRENLEFGKVLGSGAFGKVMNATAYGISKTGVSIQVAVKMLKEKADSSEREALMS
ELKMMTQLGSHENIVNLLGACTLSGPIYLIFEYCCYGDLLNYLRSKREKFHRTWTEIFKE
HNFSFYPTFQSHPNSSMPGSREVQIHPDSDQISGLHGNSFHSEDEIEYENQKRLEEEEDL
NVLTFEDLLCFAYQVAKGMEFLEFKSCVHRDLAARNVLVTHGKVVKICDFGLARDIMSDS
NYVVRGNARLPVKWMAPESLFEGIYTIKSDVWSYGILLWEIFSLGVNPYPGIPVDANFYK
LIQNGFKMDQPFYATEEIYIIMQSCWAFDSRKRPSFPNLTSFL
GCQLADAEEAMYQNVDG
RVSECPHTYQNRRPFSREMDLGLLSPQAQVEDS
Sequence length 993
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
33
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Acute lymphoid leukemia Pathogenic rs121909646, rs121913488, rs587776834 RCV000017661
RCV000017666
RCV000017668
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acute myeloid leukemia Likely pathogenic; Pathogenic rs2137622655, rs398122514, rs121909646, rs121913488, rs121913486, rs121913487, rs121913491 RCV003314385
RCV000017659
RCV000017660
RCV000017662
RCV000017663
View all (4 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple myeloma Likely pathogenic rs1208575764 RCV000984136
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myelodysplastic syndrome progressed to acute myeloid leukemia Pathogenic rs864321619 RCV000203482
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTOIMMUNE DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
B-LYMPHOBLASTIC LEUKEMIA/LYMPHOMA WITH T Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 30858955
★☆☆☆☆
Found in Text Mining only
Acute erythroleukemia Erythroleukemia CTD_human_DG 30926971
★☆☆☆☆
Found in Text Mining only
Acute erythroleukemia - M6a subtype Erythroleukemia CTD_human_DG 30926971
★☆☆☆☆
Found in Text Mining only
Acute erythroleukemia - M6b subtype Erythroleukemia CTD_human_DG 30926971
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 12908554, 12969963, 1384791, 15161429, 15778081, 15996732, 15996933, 16025155, 16146839, 16418499, 17233551, 17268528, 17387224, 17943971, 18925699
View all (25 more)
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 10233379, 12400596, 12529667, 14504097, 14604973, 15044257, 15604885, 15956279, 15982343, 16116483, 16533526, 16867903, 17156841, 17205058, 17942916
View all (33 more)
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Acute Megakaryocytic Leukemias Megakaryocytic Leukemia BEFREE 21387358
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 11756186, 12115363, 12200684, 12357354, 12393388, 12468433, 12750701, 12791658, 12816873, 12926083, 14504097, 14630076, 14716027, 15120929, 15178581
View all (132 more)
★☆☆☆☆
Found in Text Mining only
Acute myeloblastic leukemia with maturation Myeloblastic Leukemia With Maturation Orphanet
★☆☆☆☆
Found in Text Mining only