HHEX Gene - Hematopoietically Expressed Homeobox
Key regulator of embryonic development, hematopoiesis, and metabolic homeostasis
Gene Information Card
| Symbol | HHEX |
|---|---|
| Full Name | Hematopoietically Expressed Homeobox |
| Gene Type | Protein coding |
| Chromosomal Location | 10q23.33 |
| NCBI Gene ID | 3087 ncbi.nlm.nih.gov/gene/3087 |
| Ensembl ID | ENSG00000152804 |
| UniProt ID | Q9Y4X5 |
| OMIM ID | 604875 |
| HGNC ID | 4901 |
| Aliases | HHEX, HEX, HMPH, HOX11L-PEN, PRH, PRHX |
Description
The HHEX gene encodes a homeobox transcription factor essential for embryonic development, particularly of the forebrain, liver, thyroid, and pancreas. It regulates hematopoiesis, vascular development, and glucose metabolism. HHEX is also implicated in type 2 diabetes susceptibility and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Type 2 Diabetes | Risk variants (e.g., rs5015480) near HHEX affect pancreatic beta-cell development and insulin secretion | GWAS (PMID: 17463246, 17463248) |
| Thyroid Dysgenesis | HHEX mutations impair thyroid gland formation during embryogenesis | OMIM #218700 |
| Acute Myeloid Leukemia | HHEX is a target of chromosomal translocations (e.g., t(10;11)(q23;q23)) leading to fusion proteins | COSMIC, PMID: 10655556 |
| Hepatocellular Carcinoma | HHEX downregulation correlates with poor prognosis and tumor progression | PMID: 23431141 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Pancreas | 8.3 | Medium |
| Thyroid | 6.1 | Medium |
| Bone Marrow | 4.7 | Low |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| K562 | 9.8 | Chronic myeloid leukemia cell line |
| MCF7 | 3.4 | Breast cancer cell line |
| HEK293 | 1.2 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs5015480 | SNP (intronic) | 0.45 (CEU) | Risk allele for type 2 diabetes |
| c.1A>G (p.Met1?) | Missense | Rare | Loss of function; associated with thyroid dysgenesis |
| t(10;11)(q23;q23) | Translocation | Rare | Fusion with NUP98; drives AML |
Mutation functional classification
Loss of Function (LOF)
Missense or nonsense mutations (e.g., p.Met1?) impair DNA binding and transcriptional activity, linked to thyroid dysgenesis.
Gain of Function (GOF)
Not well characterized; overexpression in some cancers may promote proliferation.
Dominant Negative (DN)
Fusion proteins from translocations (e.g., NUP98-HHEX) can interfere with wild-type HHEX function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Wnt signaling pathway
• Notch signaling pathway
• Transcriptional regulation by HHEX
Protein Summary
HHEX is a 270-amino acid homeodomain-containing transcription factor. It binds DNA as a monomer or heterodimer, regulating genes involved in cell proliferation, differentiation, and metabolism. The protein localizes to the nucleus and is highly expressed in hematopoietic and endodermal tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HHEX Knockout HEK293 Cell Line | EDJ-KQ4865 | Human | 3087 | Details Get a Quote |
| HHEX Knockout HeLa Cell Line | EDJ-KQ26437 | Human | 3087 | Details Get a Quote |
| HHEX Knockout A-549 Cell Line | EDJ-KQ27643 | Human | 3087 | Details Get a Quote |
| HHEX Knockout HCT 116 Cell Line | EDJ-KQ27644 | Human | 3087 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
