Human Gene HHEX (ENST00000282728.10) from GENCODE V44
  Description: Homo sapiens hematopoietically expressed homeobox (HHEX), mRNA. (from RefSeq NM_002729)
RefSeq Summary (NM_002729): 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].
Gencode Transcript: ENST00000282728.10
Gencode Gene: ENSG00000152804.11
Transcript (Including UTRs)
   Position: hg38 chr10:92,689,955-92,695,647 Size: 5,693 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg38 chr10:92,689,987-92,694,768 Size: 4,782 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:92,689,955-92,695,647)mRNA (may differ from genome)Protein (270 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: HHEX_HUMAN
DESCRIPTION: RecName: Full=Hematopoietically-expressed homeobox protein HHEX; Short=Homeobox protein HEX; AltName: Full=Homeobox protein PRH;
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).
SUBCELLULAR LOCATION: Nucleus (Probable).
TISSUE SPECIFICITY: Liver and promyelocytic leukemia cell line HL- 60.
DEVELOPMENTAL STAGE: Expressed during hematopoiesis.
SIMILARITY: Contains 1 homeobox DNA-binding domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: HHEX
Diseases sorted by gene-association score: gangliosidosis gm2 (11), sandhoff disease, infantile, juvenile, and adult forms (8), blount's disease (8), mucolipidosis iv (7), tay-sachs disease (6), morgagni cataract (6), anterior horn cell disease (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D013749 Tetrachlorodibenzodioxin
  • D002635 Chenodeoxycholic Acid
  • C029141 2,2,5,7,8-pentamethyl-1-hydroxychroman
  • C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester
  • C532162 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine
  • C009505 4,4'-diaminodiphenylmethane
  • D000079 Acetaldehyde
  • D000082 Acetaminophen
  • D000643 Ammonium Chloride
  • D001554 Benzene
          more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 31.66 RPKM in Thyroid
Total median expression: 137.43 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -14.5032-0.453 Picture PostScript Text
3' UTR -192.10879-0.219 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR017970 - Homeobox_CS
IPR020479 - Homeobox_metazoa
IPR001356 - Homeodomain
IPR009057 - Homeodomain-like

Pfam Domains:
PF00046 - Homeobox domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2E1O - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q03014
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsemblWormBase 
Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence 
AlignmentAlignmentAlignmentAlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0008190 eukaryotic initiation factor 4E binding
GO:0008301 DNA binding, bending
GO:0017025 TBP-class protein binding
GO:0042803 protein homodimerization activity
GO:0043565 sequence-specific DNA binding
GO:0044212 transcription regulatory region DNA binding
GO:0070491 repressing transcription factor binding
GO:0071837 HMG box domain binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001570 vasculogenesis
GO:0001701 in utero embryonic development
GO:0001889 liver development
GO:0002009 morphogenesis of an epithelium
GO:0002573 myeloid leukocyte differentiation
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006406 mRNA export from nucleus
GO:0007165 signal transduction
GO:0007219 Notch signaling pathway
GO:0007275 multicellular organism development
GO:0007492 endoderm development
GO:0008283 cell proliferation
GO:0009611 response to wounding
GO:0009887 animal organ morphogenesis
GO:0009952 anterior/posterior pattern specification
GO:0010621 negative regulation of transcription by transcription factor localization
GO:0010944 negative regulation of transcription by competitive promoter binding
GO:0016055 Wnt signaling pathway
GO:0016525 negative regulation of angiogenesis
GO:0016973 poly(A)+ mRNA export from nucleus
GO:0022027 interkinetic nuclear migration
GO:0030097 hemopoiesis
GO:0030154 cell differentiation
GO:0030177 positive regulation of Wnt signaling pathway
GO:0030183 B cell differentiation
GO:0030878 thyroid gland development
GO:0030900 forebrain development
GO:0030948 negative regulation of vascular endothelial growth factor receptor signaling pathway
GO:0031016 pancreas development
GO:0034504 protein localization to nucleus
GO:0035050 embryonic heart tube development
GO:0035264 multicellular organism growth
GO:0042127 regulation of cell proliferation
GO:0043434 response to peptide hormone
GO:0045736 negative regulation of cyclin-dependent protein serine/threonine kinase activity
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048568 embryonic organ development
GO:0048729 tissue morphogenesis
GO:0048853 forebrain morphogenesis
GO:0060431 primary lung bud formation
GO:0061009 common bile duct development
GO:0061010 gall bladder development
GO:0061011 hepatic duct development
GO:0061017 hepatoblast differentiation
GO:0070365 hepatocyte differentiation
GO:0071103 DNA conformation change
GO:0090009 primitive streak formation

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0032993 protein-DNA complex


-  Descriptions from all associated GenBank mRNAs
  AK309463 - Homo sapiens cDNA, FLJ99504.
AK314891 - Homo sapiens cDNA, FLJ95793, Homo sapiens hematopoietically expressed homeobox (HHEX), mRNA.
BC014336 - Homo sapiens hematopoietically expressed homeobox, mRNA (cDNA clone MGC:22882 IMAGE:4046641), complete cds.
BC015110 - Homo sapiens hematopoietically expressed homeobox, mRNA (cDNA clone MGC:22885 IMAGE:4048691), complete cds.
L16499 - Human orphan homeobox protein (PRH) mRNA, complete cds.
X67235 - H.sapiens mRNA for proline rich homeobox (Prh) protein.
AB528006 - Synthetic construct DNA, clone: pF1KB7554, Homo sapiens HHEX gene for hematopoietically expressed homeobox protein, without stop codon, in Flexi system.
BC050638 - Homo sapiens hematopoietically expressed homeobox, mRNA (cDNA clone MGC:60128 IMAGE:6174612), complete cds.
EU446478 - Synthetic construct Homo sapiens clone IMAGE:100069948; IMAGE:100011687; FLH257052.01L hematopoietically expressed homeobox (HHEX) gene, encodes complete protein.
Z21533 - H.sapiens HEX gene encoding homeobox related protein.
JD361078 - Sequence 342102 from Patent EP1572962.
JD180413 - Sequence 161437 from Patent EP1572962.
JD053209 - Sequence 34233 from Patent EP1572962.
JD182028 - Sequence 163052 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04950 - Maturity onset diabetes of the young

-  Other Names for This Gene
  Alternate Gene Symbols: B1AQ17, ENST00000282728.1, ENST00000282728.2, ENST00000282728.3, ENST00000282728.4, ENST00000282728.5, ENST00000282728.6, ENST00000282728.7, ENST00000282728.8, ENST00000282728.9, HEX, HHEX_HUMAN, NM_002729, PRH, PRHX, Q03014, Q96CE9, uc001kid.1, uc001kid.2, uc001kid.3, uc001kid.4, uc001kid.5
UCSC ID: ENST00000282728.10
RefSeq Accession: NM_002729
Protein: Q03014 (aka HHEX_HUMAN)
CCDS: CCDS7423.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.