HLX Gene (Protein Coding)

H2.0 Like Homeobox

GC01P220879
GIFtS:
41
See more...

Aliases for HLX Gene

Aliases for HLX Gene

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

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 Diaphragmatic Hernia-Short Bowel-Asplenia Syndrome and Ovarian Endodermal Sinus 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 Summary 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 , Rfam classification and piRNA Summary for HLX Gene

Genomics for HLX Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for HLX Gene
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HLX

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

Genomic Locations for HLX Gene

Latest Assembly
chr1:220,879,431-220,885,059
(GRCh38/hg38)
Size:
5,629 bases
Orientation:
Plus strand

Previous Assembly
chr1:221,052,785-221,058,401
(GRCh37/hg19 by Entrez Gene)
Size:
5,617 bases
Orientation:
Plus strand

chr1:221,051,699-221,058,401
(GRCh37/hg19 by Ensembl)
Size:
6,703 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 Structure • Gene Density

RefSeq DNA sequence for HLX Gene

Proteins for HLX Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • 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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAD92049.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=M60721; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for HLX Gene

Protein Expression for HLX Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for HLX Gene

  • Ubiquitination at Lys175
  • 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

Protein Domains for HLX Gene

InterPro:
Blocks:
  • Lambda and other repressor helix-turn-helix signature
ProtoNet:

Suggested Antigen Peptide Sequences for HLX Gene

GenScript: Design optimal peptide antigens:
  • Homeobox protein HLX1 (HLX_HUMAN)
  • HLX1 protein (Q15989_HUMAN)
  • H2.0-like homeobox (Q5VVT2_HUMAN)

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

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

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 DNA-binding transcription factor activity, RNA polymerase II-specific IEA,ISA --
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 23455154
GO:0043565 sequence-specific DNA binding 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 Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HLX

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
extracellular 2
cytosol 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
lysosome 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:0000785 chromatin ISA --
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with HLX: view

Pathways & Interactions for HLX Gene

PathCards logo

SuperPathways for HLX Gene

SuperPathway Contained pathways
1 IL12-mediated signaling events
IL12-mediated signaling events
.31
genes like me logo Genes that share pathways with HLX: view

Pathways by source for HLX Gene

1 BioSystems pathway for HLX Gene

SIGNOR curated interactions for HLX Gene

Activates:
Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for HLX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001889 liver development 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
GO:0007519 skeletal muscle tissue development IEA --
genes like me logo Genes that share ontologies with HLX: view

Drugs & Compounds for HLX Gene

Products:

  1. Drug products for research
No Compound Related Data Available

Transcripts for HLX Gene

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  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for HLX Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HLX

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

No ASD Table

Relevant External Links for HLX Gene

GeneLoc Exon Structure for
HLX

Expression for HLX Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for HLX Gene
mRNA expression by BioGPS for HLX GenemRNA expression by GTEx 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

  • Nervous system(4.4)
  • Intestine(4.4)
  • Eye(4.2)
  • Bone marrow(2.4)
  • Liver(2.1)
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 30 31
  • 99.11 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia HLX 30 31
  • 89.84 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia HLX 30 31
  • 85.46 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Hlx 30
  • 84.73 (n)
Mouse
(Mus musculus)
 Mammalia Hlx 30 17 31
  • 84.31 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia HLX 31
  • 81 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia HLX 31
  • 75 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves HLX 31
  • 66 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia HLX 31
  • 67 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia hlx 30
  • 67.86 (n)
Zebrafish
(Danio rerio)
 Actinopterygii hlx1 30 31
  • 65.51 (n)
 OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.2656 30
Fruit Fly
(Drosophila melanogaster)
 Insecta H2.0 31
  • 26 (a)
 OneToOne
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 16 (a)
 OneToOne
Species where no ortholog for HLX was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for HLX: view image

Paralogs for HLX Gene

Paralogs for HLX Gene

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

  • HLX_HUMAN
  • F8VVX3_HUMAN
  • F8VWZ5_HUMAN
genes like me logo Genes that share paralogs with HLX: view

Variants for HLX Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HLX Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs140376930 Benign: not provided 220,881,305(+) C/T
NM_021958.4(HLX):c.704C>T (p.Ala235Val) 		MISSENSE
rs149152615 Benign: not provided 220,884,186(+) G/A
NM_021958.4(HLX):c.958-9G>A 		INTRON
rs11578466 - p.Ala387Gly
rs12141189 - p.Ser116Pro
rs2738755 - p.Pro356Leu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for HLX Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)
HLX
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HLX

SNP Genotyping and Copy Number Assays for research

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: ORP and COP

- 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 23
  2. Genomic structure, promoter sequence, and revised translation of human homeobox gene HLX1. (PMID: 7806220) Kennedy MA … Morris CM (Genomics 1994) 2 3 4
  3. Linkage localization of TGFB2 and the human homeobox gene HLX1 to chromosome 1q. (PMID: 8095486) Nishimura DY … Murray JC (Genomics 1993) 3 4 23
  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 41
  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 41

ExternalLinks

View latest publications for HLX gene in Mastermind

Products for HLX Gene

Sources for HLX Gene