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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. 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

Regulatory Elements for HLX Gene

Enhancers for HLX 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
GH01H220875 1.6 FANTOM5 ENCODE dbSUPER 31.4 +0.9 887 9 FOXA2 YY1 GLIS2 RUNX3 SP3 JUNB REST NBN HNF4A CTCF HLX ENSG00000272823 HLX-AS1 LINC01352 RNU6ATAC35P GC01P220882
GH01H220961 1.4 FANTOM5 Ensembl ENCODE 29.6 +82.8 82844 1 PKNOX1 FOXA2 TAL1 MAX RAD21 YY1 ZNF316 POLR2A HNF4G FOS HLX GC01P220953 LOC105372930
GH01H220954 1.3 FANTOM5 Ensembl ENCODE 29.9 +77.4 77362 3 MAFG BACH1 CEBPB CEBPG DPF2 FOSL1 JUND ZNF316 EGR1 SMARCA4 HLX LINC01352 GC01P220953 LOC105372930
GH01H221097 1.5 FANTOM5 Ensembl ENCODE 24.7 +220.1 220100 4 HDAC1 PKNOX1 FEZF1 RAD21 YY1 TCF12 FOS CEBPB REST ZNF589 HLX HLX-AS1 GC01P221076 GC01M220652
GH01H221000 1.1 FANTOM5 Ensembl ENCODE 28.6 +121.2 121201 1 POLR2A MAX RAD21 HLX ENSG00000272823 GC01P221007 GC01P220990
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HLX on UCSC Golden Path with GeneCards custom track

Promoters for HLX Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000020421 900 3401 TBP ZSCAN4 KLF17 RAD21 YY1 GLIS2 SCRT2 EGR2 SP3 ZNF362

Genomic Location for HLX Gene

Chromosome:
1
Start:
220,879,400 bp from pter
End:
220,885,059 bp from pter
Size:
5,660 bases
Orientation:
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:
    Q14774-HLX_HUMAN
    Recommended name:
    H2.0-like homeobox protein
    Protein Accession:
    Q14774
    Secondary Accessions:
    • B2R8A8
    • Q15988
    • Q59HE7
    • Q9NZ75

    Protein attributes for HLX Gene

    Size:
    488 amino acids
    Molecular mass:
    50789 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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

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

Suggested Antigen Peptide Sequences for HLX Gene

Graphical View of Domain Structure for InterPro Entry

Q14774

UniProtKB/Swiss-Prot:

HLX_HUMAN :
  • Belongs to the H2.0 homeobox family.
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: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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HLX
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Nucleus.

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 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:0007275 multicellular organism development TAS 8094082
GO:0007519 skeletal muscle tissue development IEA --
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

Unigene Clusters for HLX Gene

H2.0-like homeobox:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HLX
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for HLX Gene

GeneLoc Exon Structure for
HLX
ECgene alternative splicing isoforms for
HLX

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, PaxDb, 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:

HLX

SOURCE GeneReport for Unigene cluster for HLX Gene:

Hs.74870

mRNA Expression by UniProt/SwissProt for HLX Gene:

Q14774-HLX_HUMAN
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

  • Intestine(4.3)
  • Nervous system(4.3)
  • 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
chimpanzee
(Pan troglodytes)
Mammalia HLX 33 34
  • 99.11 (n)
dog
(Canis familiaris)
Mammalia HLX 33 34
  • 89.84 (n)
cow
(Bos Taurus)
Mammalia HLX 33 34
  • 85.46 (n)
rat
(Rattus norvegicus)
Mammalia Hlx 33
  • 84.73 (n)
mouse
(Mus musculus)
Mammalia Hlx 33 16 34
  • 84.31 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HLX 34
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HLX 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves HLX 34
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HLX 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hlx 33
  • 67.86 (n)
zebrafish
(Danio rerio)
Actinopterygii hlx1 33 34
  • 65.51 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2656 33
fruit fly
(Drosophila melanogaster)
Insecta H2.0 34
  • 26 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 16 (a)
OneToOne
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

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

Paralogs for HLX Gene

Paralogs for HLX Gene

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 Sequence Context AA Info Type
rs1000296405 -- 220,884,582(+) CCAGT(A/G)CGGGT reference, missense
rs1000544653 -- 220,878,827(+) GGAGG(A/G)TCTCC intron-variant, upstream-variant-2KB
rs1001151255 -- 220,879,804(+) GCGCG(C/T)CCACC intron-variant, utr-variant-5-prime
rs1001419455 -- 220,881,125(+) AGGGG(A/G)GGAAC intron-variant, upstream-variant-2KB
rs1001812349 -- 220,884,922(+) CGAAC(A/G)CTTCT utr-variant-3-prime

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)

Relevant External Links for HLX Gene

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

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

Disorders for HLX Gene

MalaCards: The human disease database

(5) 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
  • hlp3
diaphragm disease
  • abnormality of the diaphragm
usher syndrome, type 2a
  • retinal disease in usher syndrome type iia, modifier of
- elite association - COSMIC cancer census association via MalaCards
Search HLX in MalaCards View complete list of genes associated with diseases

Relevant External Links for HLX

Genetic Association Database (GAD)
HLX
Human Genome Epidemiology (HuGE) Navigator
HLX
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HLX
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 60
  2. Genomic structure, promoter sequence, and revised translation of human homeobox gene HLX1. (PMID: 7806220) Kennedy MA … Morris CM (Genomics 1994) 2 3 4 60
  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 60
  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 45 60
  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 45 60

Products for HLX Gene

Sources for HLX Gene

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