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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
  • 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 Transcriptional misregulation in cancer and Regulation of beta-cell development. 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 BARX2.

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

Promoters for HHEX Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HHEX on UCSC Golden Path with GeneCards custom track

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

Proteomics data for HHEX Gene at MOPED

Post-translational modifications for HHEX Gene

  • Ubiquitination at Lys 122
  • Modification sites at PhosphoSitePlus

Other Protein References for HHEX Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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:0005515 protein binding IPI 10597310
GO:0044212 transcription regulatory region DNA binding TAS 19324893
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

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
Jensen Localization Image for HHEX Gene COMPARTMENTS Subcellular localization image for HHEX gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 2
lysosome 2
vacuole 2
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for HHEX Gene

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:0001889 liver development IEA --
GO:0002009 morphogenesis of an epithelium IEA --
GO:0002573 myeloid leukocyte differentiation IEA --
GO:0006355 regulation of transcription, DNA-templated 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:

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 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, MOPED, and MaxQB for HHEX Gene



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

Protein tissue co-expression partners for HHEX Gene

Primer Products

In Situ Assay Products

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 36
  • 100 (a)
OneToOne
HHEX 35
  • 100 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia HHEX 36
  • 95 (a)
OneToOne
HHEX 35
  • 93.8 (n)
  • 95.91 (a)
dog
(Canis familiaris)
Mammalia HHEX 35
  • 94.92 (n)
  • 98.14 (a)
HHEX 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hhex 16
Hhex 35
  • 88.89 (n)
  • 92.96 (a)
Hhex 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HHEX 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HHEX 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hhex 35
  • 89.51 (n)
  • 94.44 (a)
chicken
(Gallus gallus)
Aves HHEX 35
  • 75 (n)
  • 79.17 (a)
HHEX 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HHEX 36
  • 72 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC69042 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Hex 35
hhex 35
  • 72.68 (n)
  • 75.19 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9768 35
zebrafish
(Danio rerio)
Actinopterygii hhex 35
  • 71.34 (n)
  • 74.66 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7056 36
  • 24 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea pha-2 36
  • 39 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4376 36
  • 21 (a)
OneToOne
Species with no ortholog for HHEX:
  • 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
rs949579 -- 92,688,154(+) CATGC(C/T)CCCTC upstream-variant-2KB
rs2275729 -- 92,692,673(-) CTTGC(A/C)ACGAG intron-variant
rs2275730 -- 92,692,585(-) CCTTC(C/T)CTTCC intron-variant
rs2901618 -- 92,690,369(+) AGGGT(C/G)GGGGC intron-variant
rs2901619 -- 92,690,370(+) GGGTG(C/G)GGGCG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv895894 CNV Loss 21882294
dgv168n67 CNV Gain 20364138
dgv802n71 CNV Loss 21882294
esv29580 CNV Loss 19812545

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

HapMap Linkage Disequilibrium report
HHEX
Human Gene Mutation Database (HGMD)
HHEX

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

Disorders for HHEX Gene

MalaCards: The human disease database

(9) MalaCards diseases for HHEX Gene - From: DISEASES

Disorder Aliases PubMed IDs
gangliosidosis gm2
  • gm>2< gangliosidosis
sandhoff disease, infantile, juvenile, and adult forms
  • sandhoff disease
tay-sachs disease
  • gm2-gangliosidosis, several forms
gangliosidosis
  • mucolipidosis type iv
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 23 67
  2. PRH/Hhex controls cell survival through coordinate transcriptional regulation of vascular endothelial growth factor signaling. (PMID: 20176809) Noy P. … Jayaraman P.S. (Mol. Cell. Biol. 2010) 3 23
  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 Med. Genet. 2009) 3 23
  4. 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 23
  5. 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 23

Products for HHEX Gene

Sources for HHEX Gene

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