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Aliases for HLX Gene

Aliases for HLX Gene

  • H2.0 Like Homeobox 2 3 5
  • Homeobox Protein HB24 3 4
  • Homeobox Protein HLX1 3 4
  • H2.0-Like Homeobox 1 2 3
  • HLX1 3 4
  • H2.0 (Drosophila)-Like Homeo Box 1 2
  • H2.0-Like Homeobox 1 (Drosophila) 2
  • H2.0-Like Homeobox Protein 3
  • H2.0-Like Homeo Box-1 3
  • H2.0-Like Homeobox 2
  • HB24 3

External Ids for HLX Gene

Previous HGNC Symbols for HLX Gene

  • HLX1

Previous GeneCards Identifiers for HLX Gene

  • GC01P219120
  • GC01P221052
  • GC01P191727

Summaries for HLX Gene

GeneCards Summary for HLX Gene

HLX (H2.0 Like Homeobox) is a Protein Coding gene. Diseases associated with HLX include Ovarian Endodermal Sinus Tumor and Ovarian Primitive Germ Cell Tumor. Among its related pathways are IL12-mediated signaling events. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is DBX1.

UniProtKB/Swiss-Prot for HLX Gene

  • Transcription factor required for TBX21/T-bet-dependent maturation of Th1 cells as well as maintenance of Th1-specific gene expression. Involved in embryogenesis and hematopoiesis (By similarity).

Gene Wiki entry for HLX Gene

Additional gene information for HLX Gene

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

Genomics for HLX Gene

GeneHancer (GH) Regulatory Elements for HLX Gene

Promoters and enhancers for HLX Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J220875 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 681.4 +0.9 886 9.7 FOXA2 YY1 GLIS2 ZNF213 ZNF143 RUNX3 SP3 RXRA JUNB REST HLX HLX-AS1 ENSG00000272823 LINC01352 RNU6ATAC35P GC01P220882 GC01M220652
GH01J220961 Enhancer 1.3 FANTOM5 Ensembl ENCODE 29.6 +82.8 82844 1.9 PKNOX1 FOXA2 RAD21 YY1 EGR1 ATF7 FOS RUNX3 CREM RXRA HLX GC01P220953 LOC105372930 GC01M220652
GH01J220954 Enhancer 1.2 FANTOM5 Ensembl ENCODE 29.9 +77.4 77362 3.7 TEAD4 BACH1 CEBPG FOSL1 ZNF316 EGR1 FOSL2 FOS NFE2 TRIM24 HLX LINC01352 GC01P220953 LOC105372930 GC01M220652
GH01J221097 Enhancer 1.4 FANTOM5 Ensembl ENCODE 24.7 +220.1 220100 4.7 HDAC1 PKNOX1 FEZF1 RAD21 YY1 TCF12 FOS RXRA CEBPB REST HLX HLX-AS1 GC01M220652 GC01P221076 LOC101929750
GH01J221000 Enhancer 1 FANTOM5 Ensembl ENCODE 28.6 +121.2 121200 1.2 SP1 POLR2A MAX RAD21 HLX ENSG00000272823 GC01P221007 GC01P220990 GC01M220652
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HLX on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HLX gene promoter:
  • STAT1
  • IRF-1
  • Sox5
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a

Genomic Locations for HLX Gene

Genomic Locations for HLX Gene
5,660 bases
Plus strand
6,703 bases
Plus strand

Genomic View for HLX Gene

Genes around HLX on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for HLX Gene

Proteins for HLX Gene

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

    Protein Symbol:
    Recommended name:
    H2.0-like homeobox protein
    Protein Accession:
    Secondary Accessions:
    • B2R8A8
    • Q15988
    • Q59HE7
    • Q9NZ75

    Protein attributes for HLX Gene

    488 amino acids
    Molecular mass:
    50789 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAD92049.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAD92049.1; Type=Frameshift; Positions=198, 259, 321; Evidence={ECO:0000305}; Sequence=M60721; Type=Frameshift; Positions=69, 115, 152, 167; Evidence={ECO:0000305};

neXtProt entry for HLX Gene

Post-translational modifications for HLX Gene

  • Ubiquitination at isoforms=175
  • Modification sites at PhosphoSitePlus

Other Protein References for HLX Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HLX Gene

Domains & Families for HLX Gene

Gene Families for HLX Gene

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

Suggested Antigen Peptide Sequences for HLX Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the H2.0 homeobox family.
  • Belongs to the H2.0 homeobox family.
genes like me logo Genes that share domains with HLX: view

Function for HLX Gene

Molecular function for HLX Gene

UniProtKB/Swiss-Prot Function:
Transcription factor required for TBX21/T-bet-dependent maturation of Th1 cells as well as maintenance of Th1-specific gene expression. Involved in embryogenesis and hematopoiesis (By similarity).

Phenotypes From GWAS Catalog for HLX Gene

Gene Ontology (GO) - Molecular Function for HLX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS 19274049
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 23455154
GO:0043565 sequence-specific DNA binding IEA,IDA 9073066
genes like me logo Genes that share ontologies with HLX: view
genes like me logo Genes that share phenotypes with HLX: view

Animal Models for HLX Gene

MGI Knock Outs for HLX:
  • Hlx Hlx<tm1Rph>

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HLX Gene

Localization for HLX Gene

Subcellular locations from UniProtKB/Swiss-Prot for HLX Gene


Subcellular locations from

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 HLX gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HLX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with HLX: view

Pathways & Interactions for HLX Gene

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

Pathways by source for HLX Gene

1 BioSystems pathway for HLX Gene

Gene Ontology (GO) - Biological Process for HLX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001889 liver development IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0007275 multicellular organism development TAS 8094082
genes like me logo Genes that share ontologies with HLX: view

No data available for SIGNOR curated interactions for HLX Gene

Drugs & Compounds for HLX Gene

No Compound Related Data Available

Transcripts for HLX Gene

mRNA/cDNA for HLX Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(66) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HLX Gene

H2.0-like homeobox:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for HLX Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HLX Gene

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

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

This gene is overexpressed in Whole Blood (x8.1) and Colon - Sigmoid (x4.5).

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

Protein tissue co-expression partners for HLX Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HLX Gene:


SOURCE GeneReport for Unigene cluster for HLX Gene:


mRNA Expression by UniProt/SwissProt for HLX Gene:

Tissue specificity: Low level in normal B and T-cells, high level in activated lymphocytes and monocytes. Also found in thymus, tonsil, bone marrow, developing vessels, and fetal brain.

Evidence on tissue expression from TISSUES for HLX Gene

  • Nervous system(4.3)
  • Intestine(4.2)
  • Eye(4)
  • Bone marrow(2)
genes like me logo Genes that share expression patterns with HLX: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for HLX Gene

Orthologs for HLX Gene

This gene was present in the common ancestor of animals.

Orthologs for HLX Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia HLX 34 33
  • 99.11 (n)
(Canis familiaris)
Mammalia HLX 34 33
  • 89.84 (n)
(Bos Taurus)
Mammalia HLX 34 33
  • 85.46 (n)
(Rattus norvegicus)
Mammalia Hlx 33
  • 84.73 (n)
(Mus musculus)
Mammalia Hlx 16 34 33
  • 84.31 (n)
(Ornithorhynchus anatinus)
Mammalia HLX 34
  • 81 (a)
(Monodelphis domestica)
Mammalia HLX 34
  • 75 (a)
(Gallus gallus)
Aves HLX 34
  • 66 (a)
(Anolis carolinensis)
Reptilia HLX 34
  • 67 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia hlx 33
  • 67.86 (n)
(Danio rerio)
Actinopterygii hlx1 34 33
  • 65.51 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2656 33
fruit fly
(Drosophila melanogaster)
Insecta H2.0 34
  • 26 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 16 (a)
Species where no ortholog for HLX 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HLX Gene

Gene Tree for HLX (if available)
Gene Tree for HLX (if available)
Evolutionary constrained regions (ECRs) for HLX: view image

Paralogs for HLX Gene

(29) SIMAP similar genes for HLX Gene using alignment to 3 proteins:

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

Variants for HLX Gene

Sequence variations from dbSNP and Humsavar for HLX Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000296405 -- 220,884,582(+) G/A coding_sequence_variant, missense_variant
rs1000544653 -- 220,878,827(+) A/G upstream_transcript_variant
rs1001151255 -- 220,879,804(+) C/T 5_prime_UTR_variant
rs1001419455 -- 220,881,125(+) A/G intron_variant
rs1001812349 -- 220,884,922(+) A/G 3_prime_UTR_variant

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

Variant ID Type Subtype PubMed ID
nsv819685 CNV gain 19587683

Variation tolerance for HLX Gene

Residual Variation Intolerance Score: 55.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.70; 94.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HLX Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for HLX Gene

MalaCards: The human disease database

(7) MalaCards diseases for HLX Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
ovarian endodermal sinus tumor
  • endodermal sinus tumor of ovary
ovarian primitive germ cell tumor
holoprosencephaly 3
  • hpe3
ovarian germ cell cancer
  • germ cell neoplasm of ovary
diaphragm disease
  • abnormality of the diaphragm
- elite association - COSMIC cancer census association via MalaCards
Search HLX in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HLX

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HLX: view

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

Publications for HLX Gene

  1. Cloning of a human homeobox gene that resembles a diverged Drosophila homeobox gene and is expressed in activated lymphocytes. (PMID: 1676597) Deguchi Y … Kehrl JH (The New biologist 1991) 2 3 4 22 58
  2. Genomic structure, promoter sequence, and revised translation of human homeobox gene HLX1. (PMID: 7806220) Kennedy MA … Morris CM (Genomics 1994) 2 3 4 58
  3. Linkage localization of TGFB2 and the human homeobox gene HLX1 to chromosome 1q. (PMID: 8095486) Nishimura DY … Murray JC (Genomics 1993) 3 4 22 58
  4. TBX21 gene variants increase childhood asthma risk in combination with HLX1 variants. (PMID: 19362357) Suttner K … Kabesch M (The Journal of allergy and clinical immunology 2009) 3 44 58
  5. HLX1 gene variants influence the development of childhood asthma. (PMID: 19038437) Suttner K … Kabesch M (The Journal of allergy and clinical immunology 2009) 3 44 58

Products for HLX Gene

Sources for HLX Gene

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