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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, Infantile, Juvenile, And Adult Forms. Among its related pathways are Regulation of beta-cell development and Transcriptional misregulation in cancer. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and sequence-specific DNA binding. An important paralog of this gene is NKX6-2.

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

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

Genomics for HHEX Gene

Regulatory Elements for HHEX Gene

Enhancers for HHEX 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
GH10F092688 1.8 FANTOM5 Ensembl ENCODE 20.8 +4.8 4795 12.3 PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 FOS PAF1 BTAF1 HHEX KIF11 RPL17P34 PDE6C IDE TNKS2 EIF2S2P3 CYP26C1 GC10M092666
GH10F092644 1.2 Ensembl ENCODE 11.9 -45.3 -45310 1.0 TBP PKNOX1 ARID4B SIN3A FEZF1 ZNF2 RAD21 YY1 ZEB1 ZNF335 HHEX KIF11 IDE RN7SL644P GC10P092612
GH10F092602 1.1 Ensembl 11.8 -86.5 -86524 1.2 PKNOX1 MLX CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 BTAF1 RPL17P34 HHEX GC10M092594 GC10P092612
GH10F092846 1 ENCODE 11.4 +158.4 158392 3.3 ZFP64 SIN3A GLI4 DMAP1 ZNF2 YY1 GLIS2 ELK1 SP3 JUNB HHEX EXOC6 ENSG00000225118
GH10F093375 1.4 FANTOM5 Ensembl ENCODE 4.7 +687.1 687076 2.9 CTCF TAL1 WRNIP1 ARID4B ZSCAN9 ZNF2 RAD21 RFX5 ZNF324 ZBTB48 MYOF CYP26A1 HHEX GC10P093383 RPL17P34
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HHEX on UCSC Golden Path with GeneCards custom track

Promoters for HHEX Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000359398 976 4201 PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SP3 MXD4 SMARCB1

Genomic Location for HHEX Gene

Chromosome:
10
Start:
92,689,924 bp from pter
End:
92,695,651 bp from pter
Size:
5,728 bases
Orientation:
Plus strand

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 Lys 122
  • 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

Suggested Antigen Peptide Sequences for HHEX Gene

Graphical View of Domain Structure for InterPro Entry

Q03014

UniProtKB/Swiss-Prot:

HHEX_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
Domain:
  • Contains 1 homeobox DNA-binding domain.
genes like me logo Genes that share domains with HHEX: view

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).

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 core promoter proximal region sequence-specific DNA binding IDA 15016828
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 15016828
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific 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

miRNA for HHEX Gene

miRTarBase miRNAs that target HHEX

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for HHEX

Flow Cytometry Products

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

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 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

Gene Ontology (GO) - Biological Process for HHEX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter 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

Transcripts for HHEX Gene

Unigene Clusters for HHEX Gene

Hematopoietically expressed homeobox:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for HHEX

Flow Cytometry Products

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 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.
genes like me logo Genes that share expression patterns with HHEX: view

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 34 35
  • 100 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HHEX 35
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HHEX 34 35
  • 94.92 (n)
cow
(Bos Taurus)
Mammalia HHEX 34 35
  • 93.8 (n)
rat
(Rattus norvegicus)
Mammalia Hhex 34
  • 89.51 (n)
mouse
(Mus musculus)
Mammalia Hhex 34 16 35
  • 88.89 (n)
oppossum
(Monodelphis domestica)
Mammalia HHEX 35
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves HHEX 34 35
  • 75 (n)
lizard
(Anolis carolinensis)
Reptilia HHEX 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hhex 34
  • 72.68 (n)
Hex 34
African clawed frog
(Xenopus laevis)
Amphibia MGC69042 34
zebrafish
(Danio rerio)
Actinopterygii hhex 34
  • 71.34 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9768 34
fruit fly
(Drosophila melanogaster)
Insecta CG7056 35
  • 24 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea pha-2 35
  • 39 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4376 35
  • 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

(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 Sequence Context AA Info Type
rs111794686 -- 92,688,357(+) TCTTG(C/T)CTGTC upstream-variant-2KB
rs11187135 -- 92,688,999(+) TGCCC(C/T)GGAGG upstream-variant-2KB
rs111896676 -- 92,690,992(+) GGGAT(A/G)TGACT intron-variant
rs111994905 -- 92,691,506(+) GGAGG(A/G)GGATT intron-variant
rs112686755 -- 92,695,100(+) AGTTA(C/T)AGCTT utr-variant-3-prime

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

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

Relevant External Links for HHEX Gene

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

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

Disorders for HHEX Gene

MalaCards: The human disease database

(8) MalaCards diseases for HHEX Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
gangliosidosis gm2
  • gm>2< gangliosidosis
sandhoff disease, infantile, juvenile, and adult forms
  • sandhoff disease
mucolipidosis iv
  • gangliosidosis
tay-sachs disease
  • gm2-gangliosidosis, several forms
morgagni cataract
  • hypermature cataract
- elite association - COSMIC cancer census association via MalaCards
Search HHEX in MalaCards View complete list of genes associated with diseases

Relevant External Links for HHEX

Genetic Association Database (GAD)
HHEX
Human Genome Epidemiology (HuGE) Navigator
HHEX
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HHEX
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.A. … Radich J. (Biochem. Biophys. Res. Commun. 1993) 2 3 4 22 64
  2. Contribution of type 2 diabetes associated loci in the Arabic population from Tunisia: a case-control study. (PMID: 19368707) Ezzidi I. … Vaxillaire M. (BMC Med. Genet. 2009) 3 22 46 64
  3. The influence of genetic variations in HHEX gene on insulin metabolism in the German MESYBEPO cohort. (PMID: 19117022) Pivovarova O. … Rudovich N. (Diabetes Metab. Res. Rev. 2009) 3 22 46 64
  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 D.K. … Kamboh M.I. (BMC Med. Genet. 2008) 3 22 46 64
  5. HEX: a novel homeobox gene expressed during haematopoiesis and conserved between mouse and human. (PMID: 8096636) Bedford F.K. … Wiedemann L.M. (Nucleic Acids Res. 1993) 2 3 4 64

Products for HHEX Gene

Sources for HHEX Gene

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