HEBP2 (Heme Binding Protein 2)
A mitochondrial heme chaperone involved in cellular stress responses and iron metabolism.
Gene Information Card
| Symbol | HEBP2 |
|---|---|
| Full Name | Heme Binding Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q24.1 |
| NCBI Gene ID | 23541 ncbi.nlm.nih.gov/gene/23541 |
| Ensembl ID | ENSG00000112297 |
| UniProt ID | Q9Y5Z4 |
| OMIM ID | 617227 |
| HGNC ID | 24985 |
| Aliases | HBP2, HEBP2, PP23, HBP2 |
Description
HEBP2 encodes a heme-binding protein that localizes to mitochondria and functions as a heme chaperone, facilitating heme delivery to target proteins. It is involved in cellular stress responses, iron homeostasis, and protection against oxidative damage. Expression is regulated by heme levels and hypoxia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Heme deficiency disorders | Impaired heme transport due to HEBP2 loss may disrupt mitochondrial function and erythropoiesis. | Limited; inferred from functional studies (UniProt). |
| Cancer (e.g., breast, colorectal) | Altered HEBP2 expression may affect heme-dependent signaling and oxidative stress resistance. | Observational; expression changes noted in tumor samples (COSMIC). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Bone marrow | 8.3 | Low |
| Heart | 6.1 | Low |
| Kidney | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Moderate expression |
| HepG2 | 10.8 | Hepatocyte model |
| K562 | 7.5 | Erythroleukemia line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200C>T (p.Pro67Leu) | Missense | <0.01% | Unknown functional impact; rare in population (gnomAD). |
| c.341G>A (p.Arg114His) | Missense | <0.01% | Predicted benign; no disease association reported. |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations described.
Dominant Negative (DN)
No dominant-negative variants identified.
View complete mutation data：
Gene Ontology (GO)
| • heme binding | • heme transport |
| • mitochondrion | • cellular response to oxidative stress |
| • iron ion homeostasis |
Pathways
• Heme biosynthesis and transport
• Cellular response to hypoxia
Protein Summary
HEBP2 is a 21 kDa mitochondrial protein that binds heme with high affinity. It acts as a chaperone to shuttle heme to hemoproteins, protecting cells from heme toxicity and oxidative stress. The protein is ubiquitously expressed, with highest levels in liver and bone marrow.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HEBP2 Knockout HEK293 Cell Line | EDJ-KQ7420 | Human | 23593 | Details Get a Quote |
| HEBP2 Knockout A-549 Cell Line | EDJ-KQ33946 | Human | 23593 | Details Get a Quote |
| HEBP2 Knockout HCT 116 Cell Line | EDJ-KQ33948 | Human | 23593 | Details Get a Quote |
| HEBP2 Knockout HeLa Cell Line | EDJ-KQ33949 | Human | 23593 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
