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

Summary

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: mouse all
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Genomic context

Location:: 13q12.2

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (28003274..28100576, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (27225623..27323127, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (28577411..28674713, complement)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Advances in the pathogenesis of FLT3 -mutated acute myeloid leukemia and targeted treatments.
Title: Advances in the pathogenesis of FLT3 -mutated acute myeloid leukemia and targeted treatments.
Inhibition of NOTCH4 sensitizes FLT3/ITD acute myeloid leukemia cells to FLT3 tyrosine kinase inhibition.
Title: Inhibition of NOTCH4 sensitizes FLT3/ITD acute myeloid leukemia cells to FLT3 tyrosine kinase inhibition.
FLT3-ITD regulation of the endoplasmic reticulum functions in acute myeloid leukemia.
Title: FLT3-ITD regulation of the endoplasmic reticulum functions in acute myeloid leukemia.
Clinico-Radio-Pathologic Correlation of Leukostasis in Acute Myeloid Leukemia with FLT3 Mutation.
Title: Clinico-Radio-Pathologic Correlation of Leukostasis in Acute Myeloid Leukemia with FLT3 Mutation.
High FLT3 expression increases immune-cell infiltration in the tumor microenvironment and correlates with prolonged disease-free survival in patients with non-small cell lung cancer.
Title: High FLT3 expression increases immune-cell infiltration in the tumor microenvironment and correlates with prolonged disease-free survival in patients with non-small cell lung cancer.
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.
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.
Characterisation of FLT3 alterations in childhood acute lymphoblastic leukaemia.
Title: Characterisation of FLT3 alterations in childhood acute lymphoblastic leukaemia.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (703)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Acute lymphoid leukemia MedGen: C0023449 OMIM: 613065 GeneReviews: Not available	Compare labs
Acute myeloid leukemia MedGen: C0023467 OMIM: 601626 GeneReviews: CEBPA-Associated Familial Acute Myeloid Leukemia (AML), ETV6 Thrombocytopenia and Predisposition to Leukemia, RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies, DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia	Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D13S993 (e-PCR)
- UniSTS:152326

D13S1380 (e-PCR)
- UniSTS:36880

D13S1716 (e-PCR)
- UniSTS:474389

SHGC-143954 (e-PCR)
- UniSTS:174110

D13S802 (e-PCR)
- UniSTS:24199

SHGC-143958 (e-PCR)
- UniSTS:181975

PMC137521P1 (e-PCR)
- UniSTS:270831

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 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 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

EC 2.7.10.1

XP_011533317.1

EC 2.7.10.1

XP_011533320.1

EC 2.7.10.1

XP_016875975.1

EC 2.7.10.1

XP_016875977.1

EC 2.7.10.1

XP_047286172.1

EC 2.7.10.1

XP_054230287.1

EC 2.7.10.1

XP_054230288.1

EC 2.7.10.1

XP_054230289.1

EC 2.7.10.1

XP_054230290.1

EC 2.7.10.1

XP_054230291.1

EC 2.7.10.1

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

NG_007066.1 RefSeqGene

Range

4977..102295

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_457

mRNA and Protein(s)

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

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000013.11 Reference GRCh38.p14 Primary Assembly

Range

28003274..28100576 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017020486.2 → XP_016875975.1 receptor-type tyrosine-protein kinase FLT3 isoform X4
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
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
XM_017020488.2 → XP_016875977.1 receptor-type tyrosine-protein kinase FLT3 isoform X3
XM_047430216.1 → XP_047286172.1 receptor-type tyrosine-protein kinase FLT3 isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060937.1 Alternate T2T-CHM13v2.0

Range

27225623..27323127 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054374312.1 → XP_054230287.1 receptor-type tyrosine-protein kinase FLT3 isoform X1
XM_054374314.1 → XP_054230289.1 receptor-type tyrosine-protein kinase FLT3 isoform X2
XM_054374315.1 → XP_054230290.1 receptor-type tyrosine-protein kinase FLT3 isoform X5
XM_054374313.1 → XP_054230288.1 receptor-type tyrosine-protein kinase FLT3 isoform X2
XM_054374316.1 → XP_054230291.1 receptor-type tyrosine-protein kinase FLT3 isoform X3