TLX2 T cell leukemia homeobox 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TLX2provided by HGNC
Official Full Name: T cell leukemia homeobox 2provided by HGNC
Primary source: HGNC:HGNC:5057
See related: Ensembl:ENSG00000115297 MIM:604240; AllianceGenome:HGNC:5057
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: NCX; HOX11L1
Summary: This gene is a member of an orphan homeobox-containing transcription factor family. Studies of the mouse ortholog have shown that the encoded protein is crucial for the development of the enteric nervous system; in humans, loss-of-function may play a role in tumorigenesis of gastrointestinal stromal tumors. [provided by RefSeq, May 2010]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 2p13.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (74514450..74517148)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (74523015..74525713)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (74741577..74744275)

Chromosome 2 - NC_000002.12 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
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?

NCX-TRPC channel interaction constitutes an important functional unit in receptor-mediated divalent calcium ion influx in neuronal cells.
Title: Selective interference with TRPC3/6 channels disrupts OX1 receptor signalling via NCX and reveals a distinct calcium influx pathway.
NCX is functionally expressed in developing ventricular human embryonic stem cell-derived ventricular cardiomyocytes and contributes to their excitation-contraction coupling.
Title: Na+/Ca2+ exchanger is a determinant of excitation-contraction coupling in human embryonic stem cell-derived ventricular cardiomyocytes.
This paper describes sequencing and comparison of 5' flanking regions of the gene, and expression in several neuroblastoma cell lines, in both mouse and human.
Title: An enhancer element for expression of the Ncx (Enx, Hox11L1) gene in neural crest-derived cells.
TLX2 is an orphan homeodomain transcription factor whose expression is mainly associated with tissues derived from neural crest cells.
Title: Functional characterization of a minimal sequence essential for the expression of human TLX2 gene.
These results support the PHOX2B-TLX2 promoter interaction, suggesting a physiological role in the transcription-factor cascade underlying the differentiation of neuronal lineages of the Autonomic Nervous System during human embryogenesis.
Title: The TLX2 homeobox gene is a transcriptional target of PHOX2B in neural-crest-derived cells.
Alignment of sequences obtained from rat, human, and mouse indicates that putative regulatory elements of the Hox11L1 gene are conserved in rat, mice, and humans.
Title: Evaluation of Hox11L1 in the fmc/fmc rat model of chronic intestinal pseudo-obstruction.
Hox11L1 has a role in tumorigenesis in gastrointestinal stromal tumors
Title: Allelic loss of Hox11L1 gene locus predicts outcome of gastrointestinal stromal tumors.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in animal organ development	IBA Inferred from Biological aspect of Ancestor more info
involved_in enteric nervous system development	IEA Inferred from Electronic Annotation more info
involved_in mesoderm formation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of dendrite morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: T-cell leukemia homeobox protein 2

Names: homeo box 11-like 1; homeobox protein Hox-11L1; neural crest homeobox protein

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.

mRNA and Protein(s)

NM_016170.5 → NP_057254.1 T-cell leukemia homeobox protein 2

See identical proteins and their annotated locations for NP_057254.1

Status: REVIEWED

Source sequence(s)

AC005041, BC006356, BU740503

Consensus CDS

CCDS1947.1

UniProtKB/Swiss-Prot

O43763, Q9UD56, Q9UQ48

Related

ENSP00000233638.6, ENST00000233638.8

Conserved Domains (1) summary

pfam00046
Location:160 → 213

Homeobox; Homeobox domain

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_000002.12 Reference GRCh38.p14 Primary Assembly

Range

74514450..74517148

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

74523015..74525713

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001534.2: Suppressed sequence

Description

NM_001534.2: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.