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Aliases for TLX2 Gene

Aliases for TLX2 Gene

  • T Cell Leukemia Homeobox 2 2 3
  • Neural Crest Homeobox Protein 3 4
  • T-Cell Leukemia Homeobox 2 2 5
  • Homeobox Protein Hox-11L1 3 4
  • Homeo Box 11-Like 1 2 3
  • HOX11L1 3 4
  • NCX 3 4
  • T-Cell Leukemia Homeobox Protein 2 3
  • T-Cell Leukemia, Homeobox 2 2

External Ids for TLX2 Gene

Previous HGNC Symbols for TLX2 Gene

  • HOX11L1

Previous GeneCards Identifiers for TLX2 Gene

  • GC02U990046
  • GC02P074954
  • GC02P074698
  • GC02P074715
  • GC02P074652
  • GC02P074596
  • GC02P074740
  • GC02P074477

Summaries for TLX2 Gene

Entrez Gene Summary for TLX2 Gene

  • 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]

GeneCards Summary for TLX2 Gene

TLX2 (T Cell Leukemia Homeobox 2) is a Protein Coding gene. Diseases associated with TLX2 include T-Cell Leukemia and Intestinal Pseudo-Obstruction. Among its related pathways are Neural Crest Differentiation and ALK1 signaling events. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is TLX1.

UniProtKB/Swiss-Prot for TLX2 Gene

  • Transcription activator that binds DNA elements with the consensus sequence 5-CGGTAATTGG-3. Binds DNA via its homeobox. Required for normal cell death of enteric neurons in the gastrointestinal tract. Required for normal development of the enteric nervous system, and for proper development of normal motility of the gastrointestinal tract (By similarity).

Gene Wiki entry for TLX2 Gene

Additional gene information for TLX2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TLX2 Gene

Genomics for TLX2 Gene

GeneHancer (GH) Regulatory Elements for TLX2 Gene

Promoters and enhancers for TLX2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I074513 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 550.8 +1.8 1769 3 RING1 SUZ12 MAX NFYC BMI1 REST SP1 CBX8 POLR2A CTBP2 TLX2 LBX2 WBP1 INO80B PCGF1 ALMS1P1 MRPL53 CCDC142 ENSG00000159239 DQX1
GH02I074514 Enhancer 0.7 ENCODE 550.8 +0.0 6 0.2 ARID4B ZNF48 RARA POLR2A NR2F6 CHD2 THAP11 EZH2 TFE3 SP5 TLX2 DQX1
GH02I074550 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 11.1 +40.3 40259 5.6 HDGF PKNOX1 FOXA2 SIN3A DMAP1 YBX1 ZNF766 E2F8 ZNF207 ZNF143 DOK1 LOXL3 LBX2-AS1 HTRA2 AUP1 TLX2 PCGF1 DQX1 MRPL53 WBP1
GH02I074570 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.9 +59.4 59364 4.3 HDGF HDAC1 PKNOX1 FOXA2 ARID4B BMI1 BATF IRF4 RAD21 ZBTB40 AUP1 MOGS PCGF1 HTRA2 DOK1 TTC31 CCDC142 DUSP11 LBX2-AS1 MOB1A
GH02I074575 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 11 +63.6 63626 3.4 PKNOX1 MAX CEBPG EBF1 BATF IRF4 ZBTB40 GATA3 POLR2A ETV6 DOK1 LOXL3 HTRA2 AUP1 DQX1 TLX2 PCGF1 LBX2 CCDC142 TTC31
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TLX2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TLX2 gene promoter:

Genomic Locations for TLX2 Gene

Genomic Locations for TLX2 Gene
chr2:74,513,463-74,517,148
(GRCh38/hg38)
Size:
3,686 bases
Orientation:
Plus strand
chr2:74,740,590-74,744,275
(GRCh37/hg19)

Genomic View for TLX2 Gene

Genes around TLX2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TLX2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TLX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TLX2 Gene

Proteins for TLX2 Gene

  • Protein details for TLX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43763-TLX2_HUMAN
    Recommended name:
    T-cell leukemia homeobox protein 2
    Protein Accession:
    O43763
    Secondary Accessions:
    • Q9UD56
    • Q9UQ48

    Protein attributes for TLX2 Gene

    Size:
    284 amino acids
    Molecular mass:
    30251 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for TLX2 Gene

neXtProt entry for TLX2 Gene

Post-translational modifications for TLX2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TLX2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TLX2 Gene

Domains & Families for TLX2 Gene

Gene Families for TLX2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for TLX2 Gene

Suggested Antigen Peptide Sequences for TLX2 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TLX2: view

No data available for UniProtKB/Swiss-Prot for TLX2 Gene

Function for TLX2 Gene

Molecular function for TLX2 Gene

UniProtKB/Swiss-Prot Function:
Transcription activator that binds DNA elements with the consensus sequence 5-CGGTAATTGG-3. Binds DNA via its homeobox. Required for normal cell death of enteric neurons in the gastrointestinal tract. Required for normal development of the enteric nervous system, and for proper development of normal motility of the gastrointestinal tract (By similarity).

Gene Ontology (GO) - Molecular Function for TLX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 10869550
GO:0003677 DNA binding IEA --
GO:0043565 sequence-specific DNA binding IDA 10869550
genes like me logo Genes that share ontologies with TLX2: view
genes like me logo Genes that share phenotypes with TLX2: view

Animal Models for TLX2 Gene

MGI Knock Outs for TLX2:

Animal Model Products

CRISPR Products

miRNA for TLX2 Gene

miRTarBase miRNAs that target TLX2

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TLX2 Gene

Localization for TLX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TLX2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TLX2 gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TLX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with TLX2: view

Pathways & Interactions for TLX2 Gene

genes like me logo Genes that share pathways with TLX2: view

Pathways by source for TLX2 Gene

Gene Ontology (GO) - Biological Process for TLX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001707 mesoderm formation IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription by RNA polymerase II IEA --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with TLX2: view

No data available for SIGNOR curated interactions for TLX2 Gene

Drugs & Compounds for TLX2 Gene

No Compound Related Data Available

Transcripts for TLX2 Gene

Unigene Clusters for TLX2 Gene

T-cell leukemia homeobox 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for TLX2 Gene

No ASD Table

Relevant External Links for TLX2 Gene

GeneLoc Exon Structure for
TLX2
ECgene alternative splicing isoforms for
TLX2

Expression for TLX2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TLX2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TLX2 Gene

This gene is overexpressed in Testis (x8.3), Colon - Sigmoid (x7.0), Small Intestine - Terminal Ileum (x5.2), and Colon - Transverse (x4.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TLX2 Gene



NURSA nuclear receptor signaling pathways regulating expression of TLX2 Gene:

TLX2

SOURCE GeneReport for Unigene cluster for TLX2 Gene:

Hs.168586

Evidence on tissue expression from TISSUES for TLX2 Gene

  • Nervous system(4.4)
  • Bone marrow(4.1)
genes like me logo Genes that share expression patterns with TLX2: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TLX2 Gene

Orthologs for TLX2 Gene

This gene was present in the common ancestor of animals.

Orthologs for TLX2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TLX2 34
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TLX2 33 34
  • 90.26 (n)
dog
(Canis familiaris)
Mammalia TLX2 33 34
  • 89.2 (n)
mouse
(Mus musculus)
Mammalia Tlx2 33 16 34
  • 88.15 (n)
rat
(Rattus norvegicus)
Mammalia Tlx2 33
  • 87.68 (n)
oppossum
(Monodelphis domestica)
Mammalia TLX2 34
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves TLX2 33
  • 78.95 (n)
zebrafish
(Danio rerio)
Actinopterygii tlx2 34
  • 57 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta C15 35 34
  • 63 (a)
worm
(Caenorhabditis elegans)
Secernentea ceh-9 34
  • 35 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 28 (a)
OneToMany
Species where no ortholog for TLX2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for TLX2 Gene

ENSEMBL:
Gene Tree for TLX2 (if available)
TreeFam:
Gene Tree for TLX2 (if available)

Paralogs for TLX2 Gene

Paralogs for TLX2 Gene

(2) SIMAP similar genes for TLX2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with TLX2: view

Variants for TLX2 Gene

Sequence variations from dbSNP and Humsavar for TLX2 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1001269723 -- 74,516,524(+) C/A/G 3_prime_UTR_variant
rs1002299434 -- 74,516,533(+) C/A 3_prime_UTR_variant
rs1002650546 -- 74,513,174(+) G/A upstream_transcript_variant
rs1003302491 -- 74,514,315(+) T/C/G upstream_transcript_variant
rs1004568469 -- 74,513,134(+) A/G upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for TLX2 Gene

Variant ID Type Subtype PubMed ID
esv2759061 CNV loss 17122850
nsv458185 CNV loss 19166990
nsv515851 CNV loss 19592680
nsv582214 CNV loss 21841781

Variation tolerance for TLX2 Gene

Residual Variation Intolerance Score: 50% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.45; 28.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TLX2 Gene

Human Gene Mutation Database (HGMD)
TLX2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TLX2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TLX2 Gene

Disorders for TLX2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for TLX2 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
t-cell leukemia
  • leukemia t-cell
intestinal pseudo-obstruction
  • intestine pseudoobstruction
neuronal intestinal dysplasia
megacolon
  • dilatation of colon
central hypoventilation syndrome, congenital
  • cchs
- elite association - COSMIC cancer census association via MalaCards
Search TLX2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TLX2

genes like me logo Genes that share disorders with TLX2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TLX2 Gene

Publications for TLX2 Gene

  1. An enhancer element for expression of the Ncx (Enx, Hox11L1) gene in neural crest-derived cells. (PMID: 10446220) Iitsuka Y … Hatano M (The Journal of biological chemistry 1999) 3 4 22 58
  2. The TLX2 homeobox gene is a transcriptional target of PHOX2B in neural-crest-derived cells. (PMID: 16402914) Borghini S … Ceccherini I (The Biochemical journal 2006) 3 22 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. HOX11L1, a gene involved in peripheral nervous system development, maps to human chromosome 2p13.1-->p12 and mouse chromosome 6C3-D1. (PMID: 10343123) Puliti A … Ceccherini I (Cytogenetics and cell genetics 1999) 2 3 58
  5. Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. (PMID: 21697133) Oshikawa M … Kato S (Investigative ophthalmology & visual science 2011) 3 58

Products for TLX2 Gene

Sources for TLX2 Gene

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