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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ITIH4
inter-alpha-trypsin inhibitor heavy chain 4
Chromosome 3 · 3p21.1
NCBI Gene: 3700Ensembl: ENSG00000055955.17HGNC: HGNC:6169UniProt: B2RMS9
77PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
blood microparticleextracellular matrixprotein bindingacute-phase responseAbnormality of the skeletal systemcoronary artery diseasetype 2 diabetes mellitusdiabetes mellitus
✦AI Summary

ITIH4 (inter-alpha-trypsin inhibitor heavy chain 4) is a Type II acute-phase protein involved in inflammatory responses and extracellular matrix stabilization. ITIH4 functions as an endopeptidase inhibitor that responds to cytokine signaling, particularly IL-6, which positively regulates its expression 1. The protein is upregulated during acute inflammatory states, including H. pylori infection-induced gastric inflammation 1, and serves as a diagnostic biomarker for neurosyphilis in cerebrospinal fluid alongside inflammatory pathway activation 2. ITIH4 has emerging roles in vascular and pulmonary diseases. It is expressed by smooth muscle cells in atherosclerotic plaques, with genetic associations to coronary artery disease 3. In chr3 obstructive pulmonary disease and emphysema, ITIH4 deficiency exacerbates oxidative stress-induced apoptosis in airway epithelial cells through JNK-dependent signaling 4. The protein exhibits cytoprotective functions through extracellular mechanisms, protecting cells from oxidative damage and particulate matter exposure 4. Genetically, ITIH4 polymorphisms associate with infant rapid weight gain 5, depressive symptoms during pregnancy 6, and reduced viral control in HIV-1 infection 7. ITIH4 participates in psychoneuroimmunological signaling relevant to well-being modulation 8. These findings suggest ITIH4 functions as both an acute-phase inflammatory mediator and a protective factor against cellular stress in multiple disease contexts.

Sources cited
1
ITIH4 is a validated biomarker in cerebrospinal fluid for neurosyphilis diagnosis and contributes to understanding inflammatory responses in CNS infection
PMID: 38380496
2
ITIH4 SNP rs2535633 is associated with infant rapid weight gain in early life, linking obesity-related genetic loci to neonatal growth
PMID: 34247200
3
ITIH4 is a novel smooth muscle cell-specific gene expressed in atherosclerotic plaques with genetic evidence linking it to coronary artery disease
PMID: 38289873
4
ITIH4 deficiency is associated with emphysema phenotype in COPD through JNK-dependent signaling and protects airway epithelial cells from oxidative stress-induced apoptosis
PMID: 40404214
5
ITIH4 SNP rs2239547 and GCCT haplotype are significantly associated with reduced risk of depressive symptoms during pregnancy
PMID: 29992445
6
Decreased ITIH4 levels during hyperacute HIV-1 infection are associated with decreased viral control
PMID: 39632834
7
ITIH4 is an acute phase response protein positively regulated by IL-6 and upregulated during H. pylori infection, serving as a potential early biomarker for gastric cancer
PMID: 35117829
8
ITIH4 gene variants regulate well-being through acute phase response signaling and psychoneuroimmunological pathways
PMID: 34883412
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.47Moderate
coronary artery diseaseOpen Targets
0.43Moderate
type 2 diabetes mellitusOpen Targets
0.39Weak
diabetes mellitusOpen Targets
0.34Weak
hemorrhoidOpen Targets
0.34Weak
Hallux valgusOpen Targets
0.32Weak
schizophreniaOpen Targets
0.31Weak
major depressive disorderOpen Targets
0.30Weak
anxiety disorderOpen Targets
0.28Weak
bipolar disorderOpen Targets
0.25Weak
obesityOpen Targets
0.25Weak
psychiatric disorderOpen Targets
0.20Weak
osteoarthritisOpen Targets
0.19Weak
colorectal cancerOpen Targets
0.19Weak
osteoarthritis, kneeOpen Targets
0.19Weak
placental retentionOpen Targets
0.16Weak
attention deficit hyperactivity disorderOpen Targets
0.16Weak
smoking initiationOpen Targets
0.16Weak
risk-taking behaviourOpen Targets
0.15Weak
substance abuseOpen Targets
0.14Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CXCR5Protein interaction100%CD4Protein interaction100%CCR5Protein interaction100%CR2Protein interaction100%ENPEPProtein interaction100%ICAM3Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
2%
Lung
2%
Ovary
1%
Heart
0%
Brain
0%
Gene Interaction Network
Click a node to explore
ITIH4CXCR5CD4CCR5CR2ENPEPICAM3
PROTEIN STRUCTURE
Preparing viewer…
PDB9C4N · 2.90 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.83LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.69 [0.58–0.83]
RankingsWhere ITIH4 stands among ~20K protein-coding genes
  • #6,173of 20,598
    Most Researched77
  • #7,138of 17,882
    Most Constrained (LOEUF)0.83
Genes detectedITIH4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Large-Scale Proteome Profiling Identifies Biomarkers Associated with Suspected Neurosyphilis Diagnosis.
PMID: 38380496
Adv Sci (Weinh) · 2024
1.00
2
Associations between KCNQ1 and ITIH4 gene polymorphisms and infant weight gain in early life.
PMID: 34247200
Pediatr Res · 2022
0.90
3
Translatome profiling reveals Itih4 as a novel smooth muscle cell-specific gene in atherosclerosis.
PMID: 38289873
Cardiovasc Res · 2024
0.80
4
Particulate matter-related ITIH4 deficiency is associated with an emphysema phenotype of COPD through JNK-dependent and JNK-independent signalling.
PMID: 40404214
Eur Respir J · 2025
0.70
5
ITIH3 and ITIH4 polymorphisms and depressive symptoms during pregnancy in Japan: the Kyushu Okinawa Maternal and Child Health Study.
PMID: 29992445
J Neural Transm (Vienna) · 2018
0.60