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FLT3 fms related receptor tyrosine kinase 3 [ Homo sapiens (human) ]

Gene ID: 2322, updated on 18-Apr-2024

Summary

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Official Symbol
FLT3provided by HGNC
Official Full Name
fms related receptor tyrosine kinase 3provided by HGNC
Primary source
HGNC:HGNC:3765
See related
Ensembl:ENSG00000122025 MIM:136351; AllianceGenome:HGNC:3765
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FLK2; STK1; CD135; FLK-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 leading to autophosphorylation of the receptor. The activated receptor kinase subsequently phosphorylates and activates multiple cytoplasmic effector molecules in pathways involved in apoptosis, proliferation, and differentiation of hematopoietic cells in bone marrow. Mutations that result in the constitutive activation of this receptor result in acute myeloid leukemia and acute lymphoblastic leukemia. [provided by RefSeq, Jan 2015]
Expression
Broad expression in spleen (RPKM 4.2), lymph node (RPKM 3.7) and 16 other tissues See more
Orthologs
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Genomic context

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Location:
13q12.2
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (28003274..28100576, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (27225623..27323127, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (28577411..28674713, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr13:28552766-28553299 Neighboring gene uncharacterized LOC105370132 Neighboring gene RNA, 7SL, cytoplasmic 272, pseudogene Neighboring gene ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:28596542-28597075 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:28597076-28597608 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:28624211-28624978 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:28625785-28626285 Neighboring gene katanin regulatory subunit B1 like 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5206 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5207 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7510 Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5209 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5210 Neighboring gene PAN3 antisense RNA 1 Neighboring gene poly(A) specific ribonuclease subunit PAN3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. [Research Progress of FLT3 Mutation in Acute Myeloid Leukemia --Review]. Guo L, et al. Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2023 Jun. PMID 37356962
  2. Revisiting the prognostic role of FLT3 mutations in acute myelogenous leukemia. Reikvam H. Expert Rev Hematol, 2023 May. PMID 37066885
  3. Correlation of blood cell counts with mutant subtypes and impact prognosis in acute myeloid leukemia patients with FLT3 mutations. Chen Y, et al. Hematology, 2023 Dec. PMID 36738279
  4. FLT3 Gene Mutations in Acute Myeloid Leukemia Patients in Northeast Thailand. Ei Ei Aung N, et al. Med Sci Monit Basic Res, 2022 Nov 24. PMID 36542496, Free PMC Article
  5. Association between FLT3-ITD and additional chromosomal abnormalities in the prognosis of acute promyelocytic leukemia. Vu MP, et al. J Int Med Res, 2022 Dec. PMID 36539954, Free PMC Article

See all (813) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Current knowledge about FLT3 gene mutations, exploring the isoforms, and protein importance in AML.
    Title: Current knowledge about FLT3 gene mutations, exploring the isoforms, and protein importance in AML.
  2. Leukemic mutation FLT3-ITD is retained in dendritic cells and disrupts their homeostasis leading to expanded Th17 frequency.
    Title: Leukemic mutation FLT3-ITD is retained in dendritic cells and disrupts their homeostasis leading to expanded Th17 frequency.
  3. Characterisation of FLT3 alterations in childhood acute lymphoblastic leukaemia.
    Title: Characterisation of FLT3 alterations in childhood acute lymphoblastic leukaemia.
  4. Clinical features and prognostic significance of DNMT3A, FLT3, and NPM1 mutations in de novo acute myeloid leukemia patients.
    Title: Clinical features and prognostic significance of DNMT3A, FLT3, and NPM1 mutations in de novo acute myeloid leukemia patients.
  5. Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation.
    Title: Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation.
  6. A T cell receptor targeting a recurrent driver mutation in FLT3 mediates elimination of primary human acute myeloid leukemia in vivo.
    Title: A T cell receptor targeting a recurrent driver mutation in FLT3 mediates elimination of primary human acute myeloid leukemia in vivo.
  7. Functional characterization and response to FLT3 inhibitors in acute myeloid leukaemia with a non-canonical FLT3 mutation: A proof of concept.
    Title: Functional characterization and response to FLT3 inhibitors in acute myeloid leukaemia with a non-canonical FLT3 mutation: A proof of concept.
  8. Targeting conditioned media dependencies and FLT-3 in chronic lymphocytic leukemia.
    Title: Targeting conditioned media dependencies and FLT-3 in chronic lymphocytic leukemia.
  9. Prognostic value of the mutation types and dynamics of FLT3-ITD in acute myeloid leukemia.
    Title: Prognostic value of the mutation types and dynamics of FLT3-ITD in acute myeloid leukemia.
  10. Mutation spectrum of FLT3 and significance of non-canonical FLT3 mutations in haematological malignancy.
    Title: Mutation spectrum of FLT3 and significance of non-canonical FLT3 mutations in haematological malignancy.
Submit: New GeneRIF Correction See all GeneRIFs (698)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables cytokine receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables growth factor binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables nuclear glucocorticoid receptor binding IEA
Inferred from Electronic Annotation
more info
  
enables phosphatidylinositol 3-kinase activator activity TAS
Traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein tyrosine kinase activity TAS
Traceable Author Statement
more info
  
enables protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
  
enables transmembrane receptor protein tyrosine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables transmembrane receptor protein tyrosine kinase activity TAS
Traceable Author Statement
more info
 PubMed 
enables vascular endothelial growth factor receptor activity TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in B cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in B cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in animal organ regeneration IEA
Inferred from Electronic Annotation
more info
  
involved_in cell surface receptor protein tyrosine kinase signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell surface receptor protein tyrosine kinase signaling pathway TAS
Traceable Author Statement
more info
 PubMed 
involved_in cellular response to cytokine stimulus ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cellular response to cytokine stimulus TAS
Traceable Author Statement
more info
 PubMed 
involved_in cellular response to glucocorticoid stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in common myeloid progenitor cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cytokine-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cytokine-mediated signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cytokine-mediated signaling pathway TAS
Traceable Author Statement
more info
  
involved_in dendritic cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
acts_upstream_of_or_within hemopoiesis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in leukocyte homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in lymphocyte proliferation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in multicellular organism development IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in myeloid progenitor cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in peptidyl-tyrosine phosphorylation TAS
Traceable Author Statement
more info
 PubMed 
involved_in positive regulation of MAP kinase activity TAS
Traceable Author Statement
more info
 PubMed 
involved_in positive regulation of MAPK cascade TAS
Traceable Author Statement
more info
 PubMed 
involved_in positive regulation of cell population proliferation TAS
Traceable Author Statement
more info
 PubMed 
involved_in positive regulation of kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction TAS
Traceable Author Statement
more info
 PubMed 
involved_in positive regulation of tyrosine phosphorylation of STAT protein TAS
Traceable Author Statement
more info
 PubMed 
involved_in pro-B cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in protein autophosphorylation TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of apoptotic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in response to organonitrogen compound IEA
Inferred from Electronic Annotation
more info
  
involved_in vascular endothelial growth factor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
  
located_in endoplasmic reticulum lumen IEA
Inferred from Electronic Annotation
more info
  
located_in endosome membrane TAS
Traceable Author Statement
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
part_of receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
receptor-type tyrosine-protein kinase FLT3
Names
CD135 antigen
FL cytokine receptor
fetal liver kinase 2
fms related tyrosine kinase 3
fms-like tyrosine kinase 3
growth factor receptor tyrosine kinase type III
stem cell tyrosine kinase 1
NP_004110.2
XP_011533317.1
XP_011533320.1
XP_016875975.1
XP_016875977.1
XP_047286172.1
XP_054230287.1
XP_054230288.1
XP_054230289.1
XP_054230290.1
XP_054230291.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007066.1 RefSeqGene

    Range
    4977..102295
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_457

mRNA and Protein(s)

  1. NM_004119.3 → NP_004110.2  receptor-type tyrosine-protein kinase FLT3 precursor

    See identical proteins and their annotated locations for NP_004110.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the protein.
    Source sequence(s)
    AL356915, AL591024, AW057705, BI461248, U02687, Z26652
    Consensus CDS
    CCDS31953.1
    UniProtKB/Swiss-Prot
    A0AVG9, B7ZLT7, B7ZLT8, F5H0A0, P36888, Q13414
    Related
    ENSP00000241453.7, ENST00000241453.12
    Conserved Domains (3) summary
    pfam00047
    Location:256 → 345
    ig; Immunoglobulin domain
    pfam07714
    Location:610 → 943
    Pkinase_Tyr; Protein tyrosine kinase
    cl21453
    Location:572 → 947
    PKc_like; Protein Kinases, catalytic domain

RNA

  1. NR_130706.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon as used in variant 1 renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL356915, AL445262, AW057705, AW772610, BC036028
    Related
    ENST00000380987.2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    28003274..28100576 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017020486.2 → XP_016875975.1  receptor-type tyrosine-protein kinase FLT3 isoform X4

  2. XM_011535015.3 → XP_011533317.1  receptor-type tyrosine-protein kinase FLT3 isoform X1

    Conserved Domains (3) summary
    pfam00047
    Location:237 → 326
    ig; Immunoglobulin domain
    pfam07714
    Location:591 → 924
    Pkinase_Tyr; Protein tyrosine kinase
    cl21453
    Location:553 → 928
    PKc_like; Protein Kinases, catalytic domain

  3. XM_011535018.3 → XP_011533320.1  receptor-type tyrosine-protein kinase FLT3 isoform X2

    See identical proteins and their annotated locations for XP_011533320.1

    Conserved Domains (3) summary
    pfam00047
    Location:81 → 170
    ig; Immunoglobulin domain
    pfam07714
    Location:435 → 768
    Pkinase_Tyr; Protein tyrosine kinase
    cl21453
    Location:397 → 772
    PKc_like; Protein Kinases, catalytic domain

  4. XM_017020488.2 → XP_016875977.1  receptor-type tyrosine-protein kinase FLT3 isoform X3

  5. XM_047430216.1 → XP_047286172.1  receptor-type tyrosine-protein kinase FLT3 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    27225623..27323127 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054374312.1 → XP_054230287.1  receptor-type tyrosine-protein kinase FLT3 isoform X1

  2. XM_054374314.1 → XP_054230289.1  receptor-type tyrosine-protein kinase FLT3 isoform X2

  3. XM_054374315.1 → XP_054230290.1  receptor-type tyrosine-protein kinase FLT3 isoform X5

  4. XM_054374313.1 → XP_054230288.1  receptor-type tyrosine-protein kinase FLT3 isoform X2

  5. XM_054374316.1 → XP_054230291.1  receptor-type tyrosine-protein kinase FLT3 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P36888.2 GenPept UniProtKB/Swiss-Prot:P36888

Gene LinkOut

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Chemical Information
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