ITIH5: Inter-Alpha-Trypsin Inhibitor Heavy Chain 5
A potential tumor suppressor gene involved in extracellular matrix organization and cancer progression
Gene Information Card
| Symbol | ITIH5 |
|---|---|
| Full Name | Inter-Alpha-Trypsin Inhibitor Heavy Chain 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 10p14 |
| NCBI Gene ID | 80760 ncbi.nlm.nih.gov/gene/80760 |
| Ensembl ID | ENSG00000120063 |
| UniProt ID | Q86UX2 |
| OMIM ID | 614394 |
| HGNC ID | 21449 |
| Aliases | ITI-HC5, IHRP, PRO1851 |
Description
ITIH5 encodes a member of the inter-alpha-trypsin inhibitor (ITI) heavy chain family. The encoded protein is involved in extracellular matrix stabilization and may function as a tumor suppressor. ITIH5 is frequently downregulated in various cancers, and its loss is associated with increased tumor invasion and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | ITIH5 promoter hypermethylation leads to reduced expression, promoting tumor invasion and metastasis. | ClinVar, COSMIC |
| Prostate Cancer | Loss of ITIH5 expression correlates with aggressive disease and poor prognosis. | NCBI Gene, OMIM |
| Colorectal Cancer | ITIH5 downregulation via methylation contributes to tumor progression. | COSMIC, ClinVar |
| Pancreatic Cancer | Reduced ITIH5 expression is associated with increased cell migration and invasion. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Low |
| Lung | 6.7 | Low |
| Breast | 4.2 | Low |
| Prostate | 3.1 | Low |
| Colon | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (Breast) | 1.5 | Low expression |
| PC3 (Prostate) | 0.9 | Very low expression |
| HepG2 (Liver) | 10.2 | Moderate expression |
| A549 (Lung) | 2.1 | Low expression |
| HT29 (Colon) | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.1% | Unknown significance |
| c.245C>T | Nonsense | <0.1% | Likely loss of function |
| c.789_790insA | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in ITIH5 are predicted to cause loss of function, consistent with its proposed tumor suppressor role.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ITIH5.
Dominant Negative (DN)
No dominant-negative mutations have been described for ITIH5.
View complete mutation data：
Gene Ontology (GO)
| • extracellular matrix organization | • hyaluronan metabolic process |
| • serine-type endopeptidase inhibitor activity | • extracellular space |
Pathways
• Inter-alpha-trypsin inhibitor pathway
• Extracellular matrix organization
Protein Summary
ITIH5 is a secreted glycoprotein that belongs to the inter-alpha-trypsin inhibitor heavy chain family. It is involved in stabilizing the extracellular matrix by cross-linking hyaluronan. The protein is expressed in various tissues, with highest levels in liver. Reduced expression is observed in multiple cancers, often due to promoter methylation, suggesting a tumor suppressor function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ITIH5 Knockout HEK293 Cell Line | EDJ-KQ9567 | Human | 80760 | Details Get a Quote |
| ITIH5 Knockout HeLa Cell Line | EDJ-KQ57345 | Human | 80760 | Details Get a Quote |
| ITIH5 Knockout A-549 Cell Line | EDJ-KQ65851 | Human | 80760 | Details Get a Quote |
| ITIH5 Knockout HCT 116 Cell Line | EDJ-KQ74275 | Human | 80760 | Details Get a Quote |
