TLX3 T cell leukemia homeobox 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TLX3provided by HGNC
Official Full Name: T cell leukemia homeobox 3provided by HGNC
Primary source: HGNC:HGNC:13532
See related: Ensembl:ENSG00000164438 MIM:604640
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: RNX; HOX11L2
Summary: The protein encoded by this gene is an orphan homeobox protein that encodes a DNA-binding nuclear transcription factor. A translocation [t(5;14)(q35;q32)] involving this gene is associated with T-cell acute lymphoblastic leukemia (T-ALL) in children and young adults. [provided by RefSeq, Nov 2015]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all

Genomic context

Location:: 5q35.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
109.20190607	current	GRCh38.p13 (GCF_000001405.39)	5	NC_000005.10 (171309248..171312139)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (170736288..170739138)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Egyptian T-cell acute lymphoblastic leukemia cases seemed to have a different genetic pattern compared to other populations, with a lower incidence of TLX3/HOX11L2 and SIL/TAL but a higher incidence of NKX2-5 expression than recorded in Western countries
Title: NKX2-5, SIL/TAL and TLX3/HOX11L2 expression in Egyptian pediatric T-cell acute lymphoblastic leukemia.
Immunophenotyping with CD135 and CD117 predicts the FLT3, IL-7R and TLX3 gene mutations in childhood T-cell acute leukemia.
Title: Immunophenotyping with CD135 and CD117 predicts the FLT3, IL-7R and TLX3 gene mutations in childhood T-cell acute leukemia.
Studies suggest that homeobox protein TLX3 expression is not an indicator for the prognosis of pediatric T cell acute lymphocytic leukemia (T-ALL).
Title: The effect of TLX3 expression on the prognosis of pediatric T cell acute lymphocytic leukemia--a systematic review.
these results place TLX1 and TLX3 at the top of an oncogenic transcriptional network controlling leukemia development, and identify RUNX1 as a tumor-suppressor gene in T-ALL
Title: Reverse engineering of TLX oncogenic transcriptional networks identifies RUNX1 as tumor suppressor in T-ALL.
The cortical thymic maturation arrest in T-lineage Acute lymphoblastic leukemias (ALLs) that overexpress TLX1 or TLX3 is due to binding of TLX1/TLX3 to ETS1.
Title: TLX homeodomain oncogenes mediate T cell maturation arrest in T-ALL via interaction with ETS1 and suppression of TCRα gene expression.
We found that 22 (21%) out of 110 clinical samples of bladder cancer showed the methylated pattern using the COBRA assay in TLX3. We found a correlation between TLX3 methylation and the sensitivity to cisplatin in the clinical samples by SDI test.
Title: Aberrant DNA methylation of T-cell leukemia, homeobox 3 modulates cisplatin sensitivity in bladder cancer.
Results identify Tlx3 as a novel target for canonical Wnt signaling that confers somatic stem cells with a sensory neuron phenotype upon neural induction.
Title: Wnt signaling promotes neuronal differentiation from mesenchymal stem cells through activation of Tlx3.
High TLX3/BCL11B fusion protein expression is associated with T/myeloid acute bilineal leukemia.
Title: Successful treatment of a child with T/myeloid acute bilineal leukemia associated with TLX3/BCL11B fusion and 9q deletion.
Aberrant HOX11L2 expression is associated with thymic adult T-cell acute lymphoblastic leukemia
Title: Thymic adult T-cell acute lymphoblastic leukemia stratified in standard- and high-risk group by aberrant HOX11L2 expression: experience of the German multicenter ALL study group.
five recurrent genomic deletions in TLX3 rearranged T-ALL; genome-wide overview of copy number changes in TLX3 rearranged T-ALL
Title: Cooperative genetic defects in TLX3 rearranged pediatric T-ALL.

Submit: New GeneRIF Correction See all GeneRIFs (21)

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

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated (2018-09-25) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated (2018-09-25) ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from BioSystems

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Cell Differentiation - Index, organism-specific biosystem (from WikiPathways)
Cell Differentiation - Index, organism-specific biosystemProteins and miRNAs associated with major cell type differentiation pathways.
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
Transcriptional misregulation in cancer, organism-specific biosystem (from KEGG)
Transcriptional misregulation in cancer, organism-specific biosystem
Transcriptional misregulation in cancer
Transcriptional misregulation in cancer, conserved biosystem (from KEGG)
Transcriptional misregulation in cancer, conserved biosystem
Transcriptional misregulation in cancer

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

Homologs of the TLX3 gene: The TLX3 gene is conserved in Rhesus monkey, dog, cow, mouse, rat, zebrafish, and frog.
Orthologs from Annotation Pipeline: 190 organisms have orthologs with human gene TLX3
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
DNA-binding transcription factor activity, RNA polymerase II-specific	ISM Inferred from Sequence Model more info	PubMed
DNA-binding transcription factor activity, RNA polymerase II-specific	NAS Non-traceable Author Statement more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
central nervous system development	IEA Inferred from Electronic Annotation more info
negative regulation of neuron differentiation	IEA Inferred from Electronic Annotation more info
neuron fate specification	IEA Inferred from Electronic Annotation more info
neuron migration	IEA Inferred from Electronic Annotation more info
regulation of respiratory gaseous exchange by neurological system process	IEA Inferred from Electronic Annotation more info
regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
respiratory gaseous exchange	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: T-cell leukemia homeobox protein 3

Names: homeo box 11-like 2; homeobox protein Hox-11L2

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.