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    HHEX hematopoietically expressed homeobox [ Homo sapiens (human) ]

    Gene ID: 3087, updated on 9-Dec-2024

    Summary

    Official Symbol
    HHEXprovided by HGNC
    Official Full Name
    hematopoietically expressed homeoboxprovided by HGNC
    Primary source
    HGNC:HGNC:4901
    See related
    Ensembl:ENSG00000152804 MIM:604420; AllianceGenome:HGNC:4901
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HEX; PRH; HMPH; PRHX; HOX11L-PEN
    Summary
    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]
    Expression
    Broad expression in thyroid (RPKM 53.2), liver (RPKM 28.6) and 14 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See HHEX in Genome Data Viewer
    Location:
    10q23.33
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (92689955..92695647)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (93569602..93575294)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (94449712..94455404)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902594 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2620 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2621 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2622 Neighboring gene eukaryotic translation initiation factor 2 subunit 2 beta pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2623 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:94451023-94451830 Neighboring gene NUP98-HHEX recombination region Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3775 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3776 Neighboring gene NANOG hESC enhancer GRCh37_chr10:94480033-94480588 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:94487019-94487521 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3777 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2624 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3778 Neighboring gene VISTA enhancer hs1866 Neighboring gene Sharpr-MPRA regulatory region 4238 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2625 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2626 Neighboring gene exocyst complex component 6 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:94652149-94652648 Neighboring gene NANOG hESC enhancer GRCh37_chr10:94653981-94654616 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:94667799-94667959 Neighboring gene Sharpr-MPRA regulatory region 15544 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3780 Neighboring gene Sharpr-MPRA regulatory region 5548 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:94820573-94821482 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3781 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3782 Neighboring gene cytochrome P450 family 26 subfamily C member 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies novel risk loci for type 2 diabetes.
    EBI GWAS Catalog
    A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.
    EBI GWAS Catalog
    Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population.
    EBI GWAS Catalog
    Eight common genetic variants associated with serum DHEAS levels suggest a key role in ageing mechanisms.
    EBI GWAS Catalog
    Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
    EBI GWAS Catalog
    Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.
    EBI GWAS Catalog
    Genome-wide association study identifies three novel loci for type 2 diabetes.
    EBI GWAS Catalog
    Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
    EBI GWAS Catalog
    Identification of new genetic risk variants for type 2 diabetes.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.
    EBI GWAS Catalog
    Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.
    EBI GWAS Catalog
    Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases.
    EBI GWAS Catalog
    Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding, bending IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
     
    enables DNA-binding transcription factor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables TBP-class protein binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables eukaryotic initiation factor 4E binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transcription cis-regulatory region binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transcription cis-regulatory region binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in B cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in DNA conformation change IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in anterior/posterior pattern specification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell differentiation IC
    Inferred by Curator
    more info
    PubMed 
    involved_in mRNA export from nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of angiogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in negative regulation of cyclin-dependent protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription by competitive promoter binding TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of transcription by transcription factor localization IC
    Inferred by Curator
    more info
    PubMed 
    involved_in negative regulation of vascular endothelial growth factor receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in poly(A)+ mRNA export from nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of Wnt signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization to nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of leukocyte proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-DNA complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    hematopoietically-expressed homeobox protein HHEX
    Names
    homeobox protein HEX
    homeobox protein PRH
    homeobox, hematopoietically expressed
    proline-rich homeodomain protein
    proline-rich homeodomain-containing transcription factor

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_002729.5NP_002720.1  hematopoietically-expressed homeobox protein HHEX

      See identical proteins and their annotated locations for NP_002720.1

      Status: REVIEWED

      Source sequence(s)
      BC015110, BM543214
      Consensus CDS
      CCDS7423.1
      UniProtKB/Swiss-Prot
      B1AQ17, Q03014, Q96CE9
      Related
      ENSP00000282728.5, ENST00000282728.10
      Conserved Domains (1) summary
      pfam00046
      Location:142194
      Homeobox; Homeobox domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      92689955..92695647
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      93569602..93575294
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)