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Aliases for HHEX Gene

Aliases for HHEX Gene

  • Hematopoietically Expressed Homeobox 2 3 5
  • Homeobox Protein HEX 3 4
  • Homeobox Protein PRH 3 4
  • PRHX 3 4
  • HEX 3 4
  • PRH 3 4
  • Proline-Rich Homeodomain-Containing Transcription Factor 3
  • Hematopoietically-Expressed Homeobox Protein HHEX 3
  • Homeobox, Hematopoietically Expressed 3
  • HOX11L-PEN 3
  • HMPH 3

External Ids for HHEX Gene

Previous HGNC Symbols for HHEX Gene

  • PRHX

Previous GeneCards Identifiers for HHEX Gene

  • GC10P093330
  • GC10P093671
  • GC10P094580
  • GC10P094114
  • GC10P094439
  • GC10P088077

Summaries for HHEX Gene

Entrez Gene Summary for HHEX Gene

  • This gene encodes a member of the homeobox family of transcription factors, many of which are involved in developmental processes. Expression in specific hematopoietic lineages suggests that this protein may play a role in hematopoietic differentiation. [provided by RefSeq, Jul 2008]

GeneCards Summary for HHEX Gene

HHEX (Hematopoietically Expressed Homeobox) is a Protein Coding gene. Diseases associated with HHEX include Gangliosidosis Gm2 and Sandhoff Disease. Among its related pathways are Transcriptional misregulation in cancer and Mesodermal Commitment Pathway. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is TLX3.

UniProtKB/Swiss-Prot for HHEX Gene

  • Recognizes the DNA sequence 5-ATTAA-3. Transcriptional repressor. May play a role in hematopoietic differentiation. Establishes anterior identity at two levels; acts early to enhance canonical WNT-signaling by repressing expression of TLE4, and acts later to inhibit NODAL-signaling by directly targeting NODAL (By similarity).

Gene Wiki entry for HHEX Gene

Additional gene information for HHEX Gene

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

Genomics for HHEX Gene

GeneHancer (GH) Regulatory Elements for HHEX Gene

Promoters and enhancers for HHEX 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
GH10I092688 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 565.9 +3.7 3687 10.1 HDGF PKNOX1 SMAD1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 HHEX BTAF1 RPL17P34 PDE6C KIF11 IDE TNKS2 EIF2S2P3 GC10M092666
GH10I092845 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 11.4 +157.9 157850 4.3 FOXA2 ZFP64 SIN3A DMAP1 GLI4 ZNF2 YY1 ZNF766 GLIS2 ZNF143 EXOC6 HHEX PDE6C ENSG00000225118
GH10I092644 Enhancer 1 Ensembl ENCODE 11.9 -45.3 -45310 1 HDAC1 ARID4B SIN3A RAD21 FOS USF2 MAFF KDM1A PRDM1 MGA HHEX KIF11 IDE RN7SL644P GC10P092612
GH10I092699 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 7 +10.0 9977 1.4 PKNOX1 ATF1 ZBTB40 RAD21 ETS1 ZNF335 ZNF366 CREM ZNF362 ZBTB11 EIF2S2P3 HHEX GC10M092666 GC10M092712 ENSG00000201412
GH10I093375 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 4.7 +687.1 687075 2.9 RB1 ARID4B MZF1 BMI1 ZNF2 IRF4 ZSCAN9 RAD21 RFX5 ZNF335 MYOF CYP26A1 HHEX GC10P093383 RPL17P34
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HHEX on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for HHEX Gene

Genomic Locations for HHEX Gene
chr10:92,689,924-92,695,651
(GRCh38/hg38)
Size:
5,728 bases
Orientation:
Plus strand
chr10:94,447,945-94,455,408
(GRCh37/hg19)

Genomic View for HHEX Gene

Genes around HHEX on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for HHEX Gene

Proteins for HHEX Gene

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

    Protein Symbol:
    Q03014-HHEX_HUMAN
    Recommended name:
    Hematopoietically-expressed homeobox protein HHEX
    Protein Accession:
    Q03014
    Secondary Accessions:
    • B1AQ17
    • Q96CE9

    Protein attributes for HHEX Gene

    Size:
    270 amino acids
    Molecular mass:
    30022 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for HHEX Gene

neXtProt entry for HHEX Gene

Post-translational modifications for HHEX Gene

  • Ubiquitination at posLast=122122
  • Modification sites at PhosphoSitePlus

Other Protein References for HHEX Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HHEX Gene

Domains & Families for HHEX Gene

Gene Families for HHEX Gene

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

Suggested Antigen Peptide Sequences for HHEX Gene

Graphical View of Domain Structure for InterPro Entry

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

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

Function for HHEX Gene

Molecular function for HHEX Gene

GENATLAS Biochemistry:
hematopoietically expressed homeo box
UniProtKB/Swiss-Prot Function:
Recognizes the DNA sequence 5-ATTAA-3. Transcriptional repressor. May play a role in hematopoietic differentiation. Establishes anterior identity at two levels; acts early to enhance canonical WNT-signaling by repressing expression of TLE4, and acts later to inhibit NODAL-signaling by directly targeting NODAL (By similarity).

Phenotypes From GWAS Catalog for HHEX Gene

Gene Ontology (GO) - Molecular Function for HHEX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 15016828
GO:0001078 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA 15016828
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA --
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with HHEX: view
genes like me logo Genes that share phenotypes with HHEX: view

Animal Models for HHEX Gene

MGI Knock Outs for HHEX:

Animal Model Products

CRISPR Products

miRNA for HHEX Gene

miRTarBase miRNAs that target HHEX

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for HHEX

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

Localization for HHEX Gene

Subcellular locations from UniProtKB/Swiss-Prot for HHEX 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 HHEX gene
Compartment Confidence
nucleus 5
extracellular 2
cytosol 2
lysosome 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for HHEX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 12554669
GO:0005737 cytoplasm IDA,IEA 12554669
GO:0032993 protein-DNA complex IDA 18755198
genes like me logo Genes that share ontologies with HHEX: view

Pathways & Interactions for HHEX Gene

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

Pathways by source for HHEX Gene

1 BioSystems pathway for HHEX Gene

Gene Ontology (GO) - Biological Process for HHEX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 10871399
GO:0001570 vasculogenesis IEA --
GO:0001701 in utero embryonic development IEA --
GO:0001889 liver development IEA --
GO:0002009 morphogenesis of an epithelium IEA --
genes like me logo Genes that share ontologies with HHEX: view

No data available for SIGNOR curated interactions for HHEX Gene

Drugs & Compounds for HHEX Gene

No Compound Related Data Available

Transcripts for HHEX Gene

Unigene Clusters for HHEX Gene

Hematopoietically expressed homeobox:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for HHEX

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

No ASD Table

Relevant External Links for HHEX Gene

GeneLoc Exon Structure for
HHEX
ECgene alternative splicing isoforms for
HHEX

Expression for HHEX Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Thyroid (x8.5), Liver (x7.8), and Whole Blood (x5.7).

Protein differential expression in normal tissues from HIPED for HHEX Gene

This gene is overexpressed in Pancreatic juice (50.1) and Blymphocyte (18.9).

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



Protein tissue co-expression partners for HHEX Gene

NURSA nuclear receptor signaling pathways regulating expression of HHEX Gene:

HHEX

SOURCE GeneReport for Unigene cluster for HHEX Gene:

Hs.118651

mRNA Expression by UniProt/SwissProt for HHEX Gene:

Q03014-HHEX_HUMAN
Tissue specificity: Liver and promyelocytic leukemia cell line HL-60.

Evidence on tissue expression from TISSUES for HHEX Gene

  • Blood(4.5)
  • Bone marrow(4.4)
  • Liver(2.9)
  • Thyroid gland(2.6)
  • Pancreas(2.3)
  • Nervous system(2.1)
  • Heart(2)
  • Intestine(2)
  • Spleen(2)
genes like me logo Genes that share expression patterns with HHEX: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for HHEX Gene

Orthologs for HHEX Gene

This gene was present in the common ancestor of animals.

Orthologs for HHEX Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HHEX 33 34
  • 100 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HHEX 34
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HHEX 33 34
  • 94.92 (n)
cow
(Bos Taurus)
Mammalia HHEX 33 34
  • 93.8 (n)
rat
(Rattus norvegicus)
Mammalia Hhex 33
  • 89.51 (n)
mouse
(Mus musculus)
Mammalia Hhex 33 16 34
  • 88.89 (n)
oppossum
(Monodelphis domestica)
Mammalia HHEX 34
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves HHEX 33 34
  • 75 (n)
lizard
(Anolis carolinensis)
Reptilia HHEX 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hhex 33
  • 72.68 (n)
Hex 33
African clawed frog
(Xenopus laevis)
Amphibia MGC69042 33
zebrafish
(Danio rerio)
Actinopterygii hhex 33
  • 71.34 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9768 33
fruit fly
(Drosophila melanogaster)
Insecta CG7056 34
  • 24 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea pha-2 34
  • 39 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4376 34
  • 21 (a)
OneToOne
Species where no ortholog for HHEX was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)

Evolution for HHEX Gene

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

Paralogs for HHEX Gene

Paralogs for HHEX Gene

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

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

Variants for HHEX Gene

Sequence variations from dbSNP and Humsavar for HHEX Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000267586 -- 92,688,140(+) A/G upstream_transcript_variant
rs1000305349 -- 92,694,145(+) C/T intron_variant
rs1000326112 -- 92,695,133(+) C/T 3_prime_UTR_variant
rs1000378559 -- 92,694,782(+) T/G 3_prime_UTR_variant
rs1000668024 -- 92,693,239(+) A/G/T intron_variant

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

Variant ID Type Subtype PubMed ID
dgv1350n54 CNV gain 21841781
dgv1351n54 CNV gain 21841781
dgv1352n54 CNV gain+loss 21841781
dgv168n67 CNV gain 20364138
esv29580 CNV loss 19812545
nsv1046258 CNV gain 25217958
nsv551929 CNV gain+loss 21841781
nsv551938 CNV loss 21841781
nsv551939 CNV gain+loss 21841781

Variation tolerance for HHEX Gene

Residual Variation Intolerance Score: 53.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.51; 10.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HHEX Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for HHEX Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
gangliosidosis gm2
  • gm>2< gangliosidosis
sandhoff disease
  • gm2-gangliosidosis, type ii
mucolipidosis iv
  • ml4
tay-sachs disease
  • tsd
blount's disease
  • blount disease, infantile
- elite association - COSMIC cancer census association via MalaCards
Search HHEX in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HHEX

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

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

Publications for HHEX Gene

  1. PCR cloning of an orphan homeobox gene (PRH) preferentially expressed in myeloid and liver cells. (PMID: 8103988) Hromas R … Collins S (Biochemical and biophysical research communications 1993) 2 3 4 22 58
  2. The influence of genetic variations in HHEX gene on insulin metabolism in the German MESYBEPO cohort. (PMID: 19117022) Pivovarova O … Rudovich N (Diabetes/metabolism research and reviews 2009) 3 22 44 58
  3. Contribution of type 2 diabetes associated loci in the Arabic population from Tunisia: a case-control study. (PMID: 19368707) Ezzidi I … Vaxillaire M (BMC medical genetics 2009) 3 22 44 58
  4. Impact of nine common type 2 diabetes risk polymorphisms in Asian Indian Sikhs: PPARG2 (Pro12Ala), IGF2BP2, TCF7L2 and FTO variants confer a significant risk. (PMID: 18598350) Sanghera DK … Kamboh MI (BMC medical genetics 2008) 3 22 44 58
  5. HEX: a novel homeobox gene expressed during haematopoiesis and conserved between mouse and human. (PMID: 8096636) Bedford FK … Wiedemann LM (Nucleic acids research 1993) 2 3 4 58

Products for HHEX Gene

  • Addgene plasmids for HHEX

Sources for HHEX Gene

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