FLT3 (fms related receptor tyrosine kinase 3)

Gene
Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2322
Gene name Gene Name - the full gene name approved by the HGNC.
Fms related receptor tyrosine kinase 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FLT3
Synonyms (NCBI Gene) Gene synonyms aliases
CD135, FLK-2, FLK2, STK1
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q12.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(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.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(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
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(2)
Transcription factor Regulation Reference
PML Activation 17124055
STAT3 Activation 16418395
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(49)
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
136351 3765 ENSG00000122025
Protein
Gene SNPs Transcription factors Other IDs Associated diseases
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
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
STYSTNRTMIRILFAFVSSVARNDTGYYTCSSSKHPSQSALVTIVEKGFINATNSSEDYE
IDQYEEFCFSVRFKAYPQIRCTWTFSRKSFPCEQKGLDNGYSISKFCNHKHQPGEYIFHA
ENDDAQFTKMFTLNIRRKPQVLAEASASQASCFSDGYPLPSWTWKKCSDKSPNCTEEITE
GVWNRKANRKVFGQWVSSSTLNMSEAIKGFLVKCCAYNSLGTSCETILLNSPGPFPFIQD
NISFYATIGVCLLFIVVLTLLICHKYKKQFRYESQLQMVQVTGSSDNEYFYVDFREYEYD
LKWEFPRENLEFGKVLGSGAFGKVMNATAYGISKTGVSIQVAVKMLKEKADSSEREALMS
ELKMMTQLGSHENIVNLLGACTLSGPIYLIFEYCCYGDLLNYLRSKREKFHRTWTEIFKE
HNFSFYPTFQSHPNSSMPGSREVQIHPDSDQISGLHGNSFHSEDEIEYENQKRLEEEEDL
NVLTFEDLLCFAYQVAKGMEFLEFKSCVHRDLAARNVLVTHGKVVKICDFGLARDIMSDS
NYVVRGNARLPVKWMAPESLFEGIYTIKSDVWSYGILLWEIFSLGVNPYPGIPVDANFYK
LIQNGFKMDQPFYATEEIYIIMQSCWAFDSRKRPSFPNLTSFLGCQLADAEEAMYQNVDG
RVSECPHTYQNRRPFSREMDLGLLSPQAQVEDS
Sequence length 993
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide Unknown Diseases (6)
Unknown
Disease term Disease name Evidence References Source
Hypothyroidism Hypothyroidism GWAS
Psoriasis Psoriasis GWAS
Tourette Syndrome Tourette Syndrome GWAS
Metabolic Syndrome Metabolic Syndrome GWAS
Show/Hide Text Mining Associations (174)
Associations from Text Mining
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 16938118, 25441683
Acute erythroleukemia Associate 11091200, 12036858, 28108543
Adenocarcinoma Associate 26315110, 26317919, 36357817, 36670542
Adenocarcinoma Follicular Associate 16570574
Adenocarcinoma of Lung Associate 32337264, 38327131
Adenoma Associate 16570574, 31248021
Adenosarcoma of the uterus Associate 28690098
Alcoholic Intoxication Stimulate 35281004
Androgen Insensitivity Syndrome Associate 16912228, 34876631
Anemia Hemolytic Associate 29859851