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HHEX hematopoietically expressed homeobox [ Homo sapiens (human) ]

Gene ID: 3087, updated on 12-Aug-2018

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; Vega:OTTHUMG00000018762
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

Genomic context

See HHEX in Genome Data Viewer
Location:
10q23.33
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (92689924..92695651)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (94449681..94455408)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 644, pseudogene Neighboring gene eukaryotic translation initiation factor 2 subunit 2 beta pseudogene 3 Neighboring gene NUP98-HHEX recombination region Neighboring gene VISTA enhancer hs1866 Neighboring gene exocyst complex component 6

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding, bending IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific NAS
Non-traceable Author Statement
more info
PubMed 
DNA-binding transcription repressor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
HMG box domain binding IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase II proximal promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
TBP-class protein binding TAS
Traceable Author Statement
more info
PubMed 
chromatin binding IEA
Inferred from Electronic Annotation
more info
 
eukaryotic initiation factor 4E binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
repressing transcription factor binding IDA
Inferred from Direct Assay
more info
PubMed 
sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription regulatory region DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
transcription regulatory region DNA binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
B cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
DNA conformation change IDA
Inferred from Direct Assay
more info
PubMed 
Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
anterior/posterior pattern specification ISS
Inferred from Sequence or Structural Similarity
more info
 
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell differentiation IC
Inferred by Curator
more info
PubMed 
cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
embryonic heart tube development IEA
Inferred from Electronic Annotation
more info
 
endoderm development IEA
Inferred from Electronic Annotation
more info
 
forebrain morphogenesis IEA
Inferred from Electronic Annotation
more info
 
gall bladder development IEA
Inferred from Electronic Annotation
more info
 
hepatic duct development IEA
Inferred from Electronic Annotation
more info
 
hepatoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
hepatocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
interkinetic nuclear migration IEA
Inferred from Electronic Annotation
more info
 
mRNA export from nucleus IDA
Inferred from Direct Assay
more info
PubMed 
multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
myeloid leukocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of angiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
negative regulation of cyclin-dependent protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription by competitive promoter binding TAS
Traceable Author Statement
more info
PubMed 
negative regulation of transcription by transcription factor localization IC
Inferred by Curator
more info
PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of vascular endothelial growth factor receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
pancreas development IEA
Inferred from Electronic Annotation
more info
 
poly(A)+ mRNA export from nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of Wnt signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
primary lung bud formation IEA
Inferred from Electronic Annotation
more info
 
primitive streak formation IEA
Inferred from Electronic Annotation
more info
 
protein localization to nucleus IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
response to peptide hormone IEA
Inferred from Electronic Annotation
more info
 
response to wounding IEA
Inferred from Electronic Annotation
more info
 
thyroid gland development IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
vasculogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
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-containing transcription factor

NCBI Reference Sequences (RefSeq)

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_002729.4NP_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, DB504532
    Consensus CDS
    CCDS7423.1
    UniProtKB/Swiss-Prot
    Q03014
    Related
    ENSP00000282728.5, OTTHUMP00000020100, ENST00000282728.9, OTTHUMT00000049402
    Conserved Domains (1) summary
    pfam00046
    Location:143193
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    92689924..92695651
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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