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Aliases for TLX2 Gene

Aliases for TLX2 Gene

  • T-Cell Leukemia Homeobox 2 2 3 5
  • Neural Crest Homeobox Protein 3 4
  • 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 Central Hypoventilation Syndrome, Congenital. Among its related pathways are ALK2 signaling events and Neural Crest Differentiation. 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

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

Genomics for TLX2 Gene

Regulatory Elements for TLX2 Gene

Enhancers for TLX2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G074570 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.9 +59.4 59365 4.3 HDGF PKNOX1 FOXA2 ARID4B SIN3A YY1 ZNF766 CBX5 ZNF207 JUNB DOK1 LBX2-AS1 AUP1 HTRA2 PCGF1 LBX2 TLX2 DQX1 MRPL53 MOGS
GH02G074575 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11 +63.6 63626 3.4 CTCF PKNOX1 MAX CEBPG ZBTB40 EED SMC3 ETV6 CREM ZNF639 DOK1 LOXL3 HTRA2 AUP1 DQX1 TLX2 PCGF1 LBX2 CCDC142 TTC31
GH02G074566 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.9 +54.4 54365 3.1 ZFP64 EBF1 ZNF697 CBX5 SCRT2 FOS RELB IKZF2 NFE2L2 EZH2 SEMA4F LBX2 BOLA3-AS1 DUSP11 WBP1 AUP1 HTRA2 TLX2 PCGF1 ENSG00000270571
GH02G074583 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.3 +70.5 70490 1.6 PKNOX1 BACH1 ZNF316 CBX5 FOS NFE2 MAFK CREM NFE2L2 MTA2 LOXL3 DOK1 AUP1 HTRA2 TLX2 PCGF1 TTC31 CCDC142 DQX1 LBX2
GH02G074739 1.5 FANTOM5 Ensembl ENCODE 10.6 +227.6 227554 3.6 PKNOX1 ATF1 ARNT MLX ARID4B SIN3A DMAP1 BRCA1 ZNF48 GTF3C2 MOGS SEMA4F DUSP11 PCGF1 WBP1 ENSG00000273245 DGUOK-AS1 CCDC142 M1AP TLX2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TLX2 on UCSC Golden Path with GeneCards custom track

Genomic Location for TLX2 Gene

Chromosome:
2
Start:
74,513,463 bp from pter
End:
74,517,148 bp from pter
Size:
3,686 bases
Orientation:
Plus strand

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

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 binding IDA 10869550
GO:0003674 molecular_function ND --
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

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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

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 from RNA polymerase II promoter 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

Clone 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

Primer Products

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 35
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TLX2 35 34
  • 90.26 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TLX2 35 34
  • 89.2 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tlx2 35 16 34
  • 88.15 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tlx2 34
  • 87.68 (n)
oppossum
(Monodelphis domestica)
Mammalia TLX2 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves TLX2 34
  • 78.95 (n)
zebrafish
(Danio rerio)
Actinopterygii tlx2 35
  • 57 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta C15 36 35
  • 63 (a)
worm
(Caenorhabditis elegans)
Secernentea ceh-9 35
  • 35 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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

(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 Sequence Context AA Info Type
rs1001269723 -- 74,516,524(+) GGACT(C/G)GAAAT utr-variant-3-prime
rs1002299434 -- 74,516,533(+) ATTCT(A/C)CGGCG utr-variant-3-prime
rs1002650546 -- 74,513,174(+) ACCAC(A/G)TGTCA upstream-variant-2KB
rs1003302491 -- 74,514,315(+) CCCTG(C/T)CCCCC upstream-variant-2KB
rs1004568469 -- 74,513,134(+) AGGGT(A/G)GAGGG upstream-variant-2KB

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)

Relevant External Links for TLX2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TLX2

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

Disorders for TLX2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TLX2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
t-cell leukemia
  • leukemia t-cell
central hypoventilation syndrome, congenital
  • central hypoventilation syndrome, congenital, with or without hirschsprung disease
- elite association - COSMIC cancer census association via MalaCards
Search TLX2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for TLX2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (J. Biol. Chem. 1999) 3 4 22 64
  2. The TLX2 homeobox gene is a transcriptional target of PHOX2B in neural-crest-derived cells. (PMID: 16402914) Borghini S. … Ceccherini I. (Biochem. J. 2006) 3 22 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  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. (Cytogenet. Cell Genet. 1999) 2 3 64
  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. (Invest. Ophthalmol. Vis. Sci. 2011) 3 64

Products for TLX2 Gene

Sources for TLX2 Gene

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