ITGAX

Chr 16

integrin subunit alpha X

Also known as: CD11C, SLEB6

NCBI Gene: 3687ENSG00000140678UniProt: P20702

This gene encodes the integrin alpha X chain protein. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as inactivated-C3b (iC3b) receptor 4 (CR4). The alpha X beta 2 complex seems to overlap the properties of the alpha M beta 2 integrin in the adherence of neutrophils and monocytes to stimulated endothelium cells, and in the phagocytosis of complement coated particles. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

196
ClinVar variants
9
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— ITGAX
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
9 Pathogenic / Likely Pathogenic· 161 VUS of 196 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.72LOEUF
pLI 0.000
Z-score 3.39
OE 0.54 (0.41–0.72)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.55Z-score
OE missense 0.94 (0.88–1.00)
658 obs / 699.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.54 (0.41–0.72)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.94 (0.88–1.00)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.05
0≤1.21.6
LoF obs/exp: 35 / 64.4Missense obs/exp: 658 / 699.2Syn Z: -0.69

ClinVar Variant Classifications

196 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic8
Likely Pathogenic1
VUS161
Likely Benign23
Benign3
8
Pathogenic
1
Likely Pathogenic
161
VUS
23
Likely Benign
3
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
8
0
8
Likely Pathogenic
0
0
1
0
1
VUS
0
154
7
0
161
Likely Benign
0
17
0
6
23
Benign
0
2
0
1
3
Total0173167196

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

ITGAX · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
INTEGRIN, ALPHA-X; ITGAX
MIM #151510 · *
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Tape strips detect distinct immune and barrier profiles in atopic dermatitis and psoriasis.
He H et al.·J Allergy Clin Immunol
2021
Interferon regulatory factor-5-dependent CD11c+ macrophages contribute to the formation of rupture-prone atherosclerotic plaques.
Edsfeldt A et al.·Eur Heart J
2022
Causal relationship, shared genes between rheumatoid arthritis and pulp and periapical disease: evidence from GWAS and transcriptome data.
Wu H et al.·Front Immunol
2024
Cefadroxil Targeting of SLC15A2/PEPT2 Protects From Colistin Nephrotoxicity.
Fernandez-Prado R et al.·Lab Invest
2025
Intrapatient comparison of atopic dermatitis skin transcriptome shows differences between tape-strips and biopsies.
Del Duca E et al.·Allergy
2024
IgA Nephropathy Susceptibility Loci and Disease Progression.
Shi M et al.·Clin J Am Soc Nephrol
2018
Pathogenic alleles in microtubule, secretory granule and extracellular matrix-related genes in familial keratoconus.
Shinde V et al.·Hum Mol Genet
2021
CD8+T Cell-Related Gene Biomarkers in Macular Edema of Diabetic Retinopathy.
Huang J et al.·Front Endocrinol (Lausanne)
2022
Focusing on tumor and it's microenvironmental immune members for head and neck cancer patients.
Pamuk S et al.·Pathol Res Pract
2024Cohort
CD11c(+)CD88(+)CD317(+) myeloid cells are critical mediators of persistent CNS autoimmunity.
Manouchehri N et al.·Proc Natl Acad Sci U S A
2021
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
ITGAX downregulation activates NLRP3 inflammasome and ameliorates LPS-induced acute liver injury by regulating macrophage M1 polarization and the DNMT1/PPAR-γ axis.
Song W et al.·Biochem Biophys Res Commun
2025
Elevated ITGAX/CD11c in CSF-Derived Extracellular Vesicles Reflects Disability Progression in Multiple Sclerosis.
Iwahara N et al.·Neurol Neuroimmunol Neuroinflamm
2025🔓 Open Access
ITGAX promotes Th17-cell differentiation and drives pathogenesis in pediatric ulcerative colitis.
Xie W et al.·Histol Histopathol
2026
ITGAX promotes gastric cancer progression via epithelial-mesenchymal transition pathway.
Hu J et al.·Front Pharmacol
2024🔓 Open Access
The Downregulation of ITGAX Exacerbates Amyloid-β Plaque Deposition in Alzheimer's Disease by Increasing Polarization of M1 Microglia.
Hu Y et al.·J Alzheimers Dis
2024
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools