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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HHEX Gene

protein-coding   GIFtS: 63
GCID: GC10P094439

Hematopoietically Expressed Homeobox


(Previous symbol: PRHX)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Hematopoietically Expressed Homeobox1 2     HMPH2
PRHX1 2 3 5     HOX11L-PEN2
PRH2 3 5     Hematopoietically-Expressed Homeobox Protein HHEX2
Homeobox Protein HEX2 3     Homeobox, Hematopoietically Expressed2
Homeobox Protein PRH2 3     Proline-Rich Homeodomain-Containing Transcription Factor2
HEX2 3     

External Ids:    HGNC: 49011   Entrez Gene: 30872   Ensembl: ENSG000001528047   OMIM: 6044205   UniProtKB: Q030143   

Export aliases for HHEX gene to outside databases

Previous GC identifers: GC10P093330 GC10P093671 GC10P094580 GC10P094114 GC10P088077


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 gestational diabetes, and gangliosidosis, and among its related super-pathways are Regulation of beta-cell development. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is HLX.

UniProtKB/Swiss-Prot: HHEX_HUMAN, Q03014
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 Wiki entry for HHEX Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.2  NT_030059.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HHEX gene promoter:
         SRF   PPAR-gamma1   E2F   SRF (504 AA)   STAT3   PPAR-gamma2   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHHEX promoter sequence
   Search SABiosciences Chromatin IP Primers for HHEX

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HHEX


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q23.33   Ensembl cytogenetic band:  10q23.33   HGNC cytogenetic band: 10q23.33

HHEX Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HHEX gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P094439:  view genomic region     (about GC identifiers)

Start:
94,447,945 bp from pter      End:
94,455,408 bp from pter
Size:
7,464 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: HHEX_HUMAN, Q03014 (See protein sequence)
Recommended Name: Hematopoietically-expressed homeobox protein HHEX  
Size: 270 amino acids; 30022 Da
Subcellular location: Nucleus (Probable)
Developmental stage: Expressed during hematopoiesis
1 PDB 3D structure from and Proteopedia for HHEX:
2E1O (3D)    
Secondary accessions: B1AQ17 Q96CE9

Explore the universe of human proteins at neXtProt for HHEX: NX_Q03014

Explore proteomics data for HHEX at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q03014

  • HHEX Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HHEX Protein Expression
    REFSEQ proteins: NP_002720.1  
    ENSEMBL proteins: 
     ENSP00000282728   ENSP00000450017   ENSP00000447953  

    Human Recombinant Protein Products for HHEX: 
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    OriGene Protein Over-expression Lysate for HHEX
    OriGene MassSpec for HHEX 
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    GenScript Custom Purified and Recombinant Proteins Services for HHEX
    Novus Biologicals HHEX Proteins
    Novus Biologicals HHEX Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HHEX 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA12554669
    GO:0005737cytoplasm IDA12554669
    GO:0032993protein-DNA complex IDA18755198

    HHEX for ontologies           About GeneDecksing



    HHEX Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for HHEX 

    Assay Products for HHEX: 
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    Cloud-Clone Corp. ELISAs for HHEX 
    Cloud-Clone Corp. CLIAs for HHEX


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    NKL: Homeoboxes / ANTP class : NKL subclass

    4 InterPro protein domains:
     IPR020479 Homeobox_metazoa
     IPR017970 Homeobox_CS
     IPR001356 Homeodomain
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry Q03014

    ProtoNet protein and cluster: Q03014

    1 Blocks protein domain: IPB000047 Lambda and other repressor helix-turn-helix signature

    UniProtKB/Swiss-Prot: HHEX_HUMAN, Q03014
    Similarity: Contains 1 homeobox DNA-binding domain


    HHEX for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HHEX_HUMAN, Q03014
    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)

         Genatlas biochemistry entry for HHEX:
    hematopoietically expressed homeo box

         Gene Ontology (GO): 5/13 molecular function terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003682chromatin binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding IPI10597310
    GO:0008134transcription factor binding IPI15016828
         
    HHEX for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for HHEX:
     Lamellipodia and high actin ra 

         15/16 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Hhex) (see all 16):
     cardiovascular system  cellular  craniofacial  embryogenesis  endocrine/exocrine gland 
     growth/size  hematopoietic system  homeostasis/metabolism  immune system  liver/biliary system 
     mortality/aging  muscle  nervous system  respiratory system  taste/olfaction 

    HHEX for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for HHEX: Hhextm1Cwb Hhextm1Ngu

       inGenious Targeting Laboratory - Custom generated mouse model solutions for HHEX 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HHEX

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HHEX 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HHEX 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HHEX
    8/19 QIAGEN miScript miRNA Assays for microRNAs that regulate HHEX (see all 19):
    hsa-miR-3938 hsa-miR-4328 hsa-miR-148b hsa-miR-767-5p hsa-miR-340 hsa-miR-223 hsa-miR-204 hsa-miR-148a
    SwitchGear 3'UTR luciferase reporter plasmidHHEX 3' UTR sequence
    Inhib. RNA
    Products:
        
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HHEX


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for HHEX About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Regulation of beta-cell development
    Maturity onset diabetes of the young0.56
    2Transcriptional misregulation in cancer
    Transcriptional misregulation in cancer

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2         Kegg Pathways  (Kegg details for HHEX):
        Maturity onset diabetes of the young
    Transcriptional misregulation in cancer


    HHEX for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HHEX

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/16 Interacting proteins for HHEX (Q030142, 3 ENSP000002827284) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EFEMP2O959672, 3, ENSP000003099534MINT-68355 I2D: score=4 STRING: ENSP00000309953
    KRTAP4-12Q9BQ662, 3, ENSP000003775824MINT-67054 I2D: score=5 STRING: ENSP00000377582
    JUNP054123, ENSP000003602664I2D: score=3 STRING: ENSP00000360266
    PMLP295903, ENSP000002680584I2D: score=3 STRING: ENSP00000268058
    GATA2P237693, ENSP000003456814I2D: score=1 STRING: ENSP00000345681
    About this table

    Gene Ontology (GO): 5/49 biological process terms (GO ID links to tree view) (see all 49):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA10871399
    GO:0001570vasculogenesis IEA--
    GO:0001701in utero embryonic development IEA--
    GO:0001889liver development ----
    GO:0002009morphogenesis of an epithelium ----

    HHEX for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HHEX

    Search CenterWatch for drugs/clinical trials and news about HHEX

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for HHEX gene: 
    NM_002729.4  

    Unigene Cluster for HHEX:

    Hematopoietically expressed homeobox
    Hs.118651  [show with all ESTs]
    Unigene Representative Sequence: BC015110
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000282728(uc001kid.3) ENST00000551454 ENST00000472590 ENST00000492654


    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HHEX
    8/19 QIAGEN miScript miRNA Assays for microRNAs that regulate HHEX (see all 19):
    hsa-miR-3938 hsa-miR-4328 hsa-miR-148b hsa-miR-767-5p hsa-miR-340 hsa-miR-223 hsa-miR-204 hsa-miR-148a
    SwitchGear 3'UTR luciferase reporter plasmidHHEX 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HHEX
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    GenScript: all cDNA clones in your preferred vector: HHEX (NM_002729)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HHEX
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HHEX
    Sirion Biotech Customized lentivirus for stable overexpression of HHEX 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HHEX
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HHEX

    Additional mRNA sequence: 

    AK309463.1 AK314891.1 BC014336.1 BC015110.1 BC050638.1 L16499.1 X67235.1 Z21533.1 

    4 DOTS entries:

    DT.75129186  DT.95265621  DT.91724822  DT.121255822 

    24/77 AceView cDNA sequences (see all 77):

    BP381515 AA385079 AI432673 CD673144 AA384685 BE675192 AI913057 AI285592 
    BC050638 NM_002729 BM719909 X67235 AI219552 BQ017608 BE549982 BU162190 
    BV188291 BG616027 AI435444 BC015110 BM543214 BC014336 CB135686 AW612404 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HHEX expression in normal human tissues (normalized intensities)      HHEX embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGACCTTAA
    HHEX Expression
    About this image


    HHEX expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/21 selected tissues (see all 21) fully expand
     
     Endothelium (Cardiovascular System)    fully expand to see all 15 entries
             PureStem endothelial progenitor RP1-MV2-18
             Human Cardiac Microvascular Endothelial Cells (HCMEC)   
     
     Liver (Hepatobiliary System)    fully expand to see all 10 entries
             Mature Hepatocytes Liver Lobule
             Fetal Liver Stromal Cells   
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 7 entries
             Hindgut Endoderm Cells Hindgut
             Foregut
             Endoderm progenitor-like cells ( Generation and expansion of endodermal progenitor...
     
     Kidney (Urinary System)    fully expand to see all 6 entries
             Proximal Tubule Cells Proximal Tubule
             Proximal Tubule
             Human Renal Glomerular Endothelial Cells (HRGEC)   
     
     Endoderm (Gastrulation Derivatives)    fully expand to see all 5 entries
             Definitive Endoderm Cells Definitive Endoderm
             Endoderm-like cells ( Functional hepatocyte generation from human embryonic stem...

    See HHEX Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HHEX

    SOURCE GeneReport for Unigene cluster: Hs.118651

    UniProtKB/Swiss-Prot: HHEX_HUMAN, Q03014
    Tissue specificity: Liver and promyelocytic leukemia cell line HL-60

        SABiosciences Expression via Pathway-Focused PCR Array including HHEX: 
              Homeobox (HOX) Genes in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HHEX

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for HHEX gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hhex1 , 5 hematopoietically expressed homeobox1, 5 88.89(n)1
    92.96(a)1
      19 (32.28 cM)5
    152421  NM_008245.31  NP_032271.11 
     374328875 
    chicken
    (Gallus gallus)
    Aves HHEX1 hematopoietically expressed homeobox 75.13(n)
    79.17(a)
      396182  NM_205252.1  NP_990583.1 
    lizard
    (Anolis carolinensis)
    Reptilia HHEX6
    Uncharacterized protein
    70(a)
    1 ↔ 1
    GL343219.1(2483929-2508879)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC690422 hypothetical protein MGC69042 77.67(n)    BC059320.1 
    zebrafish
    (Danio rerio)
    Actinopterygii hhex2 hematopoietically expressed homeobox 79.97(n)   30098  AF131070.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG70566
    --
    19(a)
    1 ↔ 1
    3R(16902635-16906405)
    worm
    (Caenorhabditis elegans)
    Secernentea pha-26
    cog-16
    Protein COG-1, isoform a
    33(a)
    15(a)
    1 ↔ 1
    possible ortholog
    X(633703-637043)
    II(14902493-14907533)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HHEX gene
    HLX2  DBX22  DBX12  
    10 SIMAP similar genes for HHEX using alignment to 2 protein entries:     HHEX_HUMAN (see all proteins):
    GBX2    GBX1    MNX1    homeobox gene    EMX1    HOXD8
    HOXB8    MEOX2    HOXA1    HLX

    HHEX for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/150 SNPs in HHEX are shown (see all 150)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1871391141,2
    --94447860(+) GAATAC/GGTCAT 1 -- us2k10--------
    rs9495791,2
    C,F,H--94447911(+) CATGCC/TCCCTC 1 -- us2k14Minor allele frequency- T:0.00NS EA 418
    rs1150672641,2
    F--94448002(+) TTTATG/AATTTA 1 -- us2k11Minor allele frequency- A:0.01WA 118
    rs1505459311,2
    C--94448041(+) TCTTAA/CCTACC 1 -- us2k10--------
    rs1924250381,2
    --94448079(+) TGTAGC/TACACT 1 -- us2k10--------
    rs741491061,2
    C,F--94448101(+) CTGGGC/TTTGTA 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs1455842021,2
    --94448252(+) ACGCTC/TACATG 1 -- us2k10--------
    rs1808351821,2
    --94448260(+) ATGCTA/GTTCTC 1 -- us2k10--------
    rs741491071,2
    C,F--94448475(+) CATCTG/ATCCTT 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs1852206121,2
    --94448532(+) AAACTC/TGAACA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for HHEX (94447945 - 94455408 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for HHEX:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv802n71CNV Loss21882294
    esv29580CNV Loss19812545
    nsv895894CNV Loss21882294
    dgv168n67CNV Gain20364138


    Human Gene Mutation Database (HGMD): HHEX
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing HHEX
    DNA2.0 Custom Variant and Variant Library Synthesis for HHEX

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604420    OMIM disorders: --

    19 diseases for HHEX:    About MalaCards
    gestational diabetes    gangliosidosis    maturity-onset diabetes of the young    polycystic ovary syndrome
    coronary heart disease    acute myeloid leukemia    diabetes mellitus    type 1 diabetes
    obesity    myeloid leukemia    endotheliitis    alzheimer's disease
    multiple sclerosis    thyroiditis    prostate cancer    leukemia
    prostatitis    pancreatitis    hepatitis

    1 disease from the University of Copenhagen DISEASES database for HHEX:
    Diabetes mellitus

    HHEX for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): HHEX
    Human Genome Epidemiology (HuGE) Navigator: HHEX (110 documents)

    Export disorders for HHEX gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for HHEX gene, integrated from 9 sources (see all 157):
    (articles sorted by number of sources associating them with HHEX)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. PCR cloning of an orphan homeobox gene (PRH) preferentially expressed in myeloid and liver cells. (PubMed id 8103988)1, 2, 3, 9 Hromas R.A.... Radich J. (1993)
    2. HEX: a novel homeobox gene expressed during haematopoiesis and conserved between mouse and human. (PubMed id 8096636)1, 2, 3 Bedford F.K.... Wiedemann L.M. (1993)
    3. The influence of genetic variations in HHEX gene on insulin metabolism in the German MESYBEPO cohort. (PubMed id 19117022)1, 4, 9 Pivovarova O....Rudovich N. (2009)
    4. Contribution of type 2 diabetes associated loci in the Arabic population from Tunisia: a case-control study. (PubMed id 19368707)1, 4, 9 Ezzidi I....Vaxillaire M. (2009)
    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. (PubMed id 18598350)1, 4, 9 Sanghera D.K....Kamboh M.I. (2008)
    6. Eight common genetic variants associated with serum D HEAS levels suggest a key role in ageing mechanisms. (PubMed id 21533175)1, 4 Zhai G....Wallaschofski H. (2011)
    7. Genetic risk and a primary role for cell-mediated immu ne mechanisms in multiple sclerosis. (PubMed id 21833088)1, 4  ....Compston A. (2011)
    8. Association study of genetic variants in eight genes/ loci with type 2 diabetes in a Han Chinese population. (PubMed id 20550665)1, 4 Lin Y....Yang Z. (2010)
    9. Evaluating the discriminative power of multi-trait ge netic risk scores for type 2 diabetes in a northern Swedish population. (PubMed id 20571754)1, 4 Fontaine-Bisson B....Franks P.W. (2010)
    10. Glycemia determines the effect of type 2 diabetes ris k genes on insulin secretion. (PubMed id 20802253)1, 4 Heni M....HAoring H.U. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3087 HGNC: 4901 AceView: HHEX Ensembl:ENSG00000152804 euGenes: HUgn3087
    ECgene: HHEX Kegg: 3087 H-InvDB: HHEX

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HHEX Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HHEX gene:
    Search GeneIP for patents involving HHEX

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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     Regulatory tfbs in HHEX promoter
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