ITGAX

gene
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Also known as CD11c

Summary

ITGAX (integrin subunit alpha X, HGNC:6152) is a protein-coding gene on chromosome 16p11.2, encoding Integrin alpha-X (P20702). Integrin alpha-X/beta-2 is a receptor for fibrinogen.

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.

Source: NCBI Gene 3687 — RefSeq curated summary.

At a glance

  • GWAS associations: 5
  • Clinical variants (ClinVar): 222 total
  • MANE Select transcript: NM_000887

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:6152
Approved symbolITGAX
Nameintegrin subunit alpha X
Location16p11.2
Locus typegene with protein product
StatusApproved
AliasesCD11c
Ensembl geneENSG00000140678
Ensembl biotypeprotein_coding
OMIM151510
Entrez3687

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 5 protein_coding, 4 retained_intron

ENST00000268296, ENST00000562138, ENST00000562522, ENST00000562918, ENST00000564308, ENST00000567409, ENST00000571644, ENST00000958326, ENST00000958327

RefSeq mRNA: 2 — MANE Select: NM_000887 NM_000887, NM_001286375

CCDS: CCDS10711, CCDS67014

Canonical transcript exons

ENST00000268296 — 30 exons

ExonStartEnd
ENSE000009443913137324931373390
ENSE000013895303138180331382999
ENSE000016815173135970031359830
ENSE000017384893135725331357364
ENSE000017726453136106331361213
ENSE000017876553135992031360065
ENSE000017949263136031031360463
ENSE000034586953135517631355291
ENSE000034780393137718231377265
ENSE000034903423137975731379864
ENSE000035202923135589331355998
ENSE000035338373137108431371214
ENSE000035446303137163031371784
ENSE000035512713136207531362204
ENSE000035528793137679931376915
ENSE000035608643137700031377079
ENSE000035768993138052331380624
ENSE000035822833135662531356728
ENSE000035876623137956831379646
ENSE000036105873137998231380065
ENSE000036319833136293531363075
ENSE000036415673138026631380379
ENSE000036423033136316531363374
ENSE000036423433137237831372509
ENSE000036678263136261131362753
ENSE000036704413136183631361909
ENSE000036719683137259731372670
ENSE000036780073137133431371497
ENSE000036792273138089731381007
ENSE000037283383135703131357101

Expression profiles

Bgee: expression breadth ubiquitous, 174 present calls, max score 99.12.

FANTOM5 (CAGE): breadth broad, TPM avg 61.6862 / max 4104.2043, expressed in 677 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
15380955.2300674
1538106.4562274

Top tissues by expression

278 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
granulocyteCL:000009499.12gold quality
monocyteCL:000057697.43gold quality
mononuclear cellCL:000084297.02gold quality
leukocyteCL:000073896.98gold quality
bloodUBERON:000017896.15gold quality
upper lobe of left lungUBERON:000895295.33gold quality
spleenUBERON:000210695.22gold quality
right lungUBERON:000216794.74gold quality
upper lobe of lungUBERON:000894893.56gold quality
vermiform appendixUBERON:000115492.45gold quality
C1 segment of cervical spinal cordUBERON:000646992.08gold quality
spinal cordUBERON:000224088.62gold quality
gall bladderUBERON:000211088.23gold quality
bone marrow cellCL:000209287.56gold quality
lymph nodeUBERON:000002986.62gold quality
caecumUBERON:000115386.29gold quality
lungUBERON:000204882.85gold quality
omental fat padUBERON:001041482.54gold quality
left uterine tubeUBERON:000130382.50gold quality
peritoneumUBERON:000235882.47gold quality
right coronary arteryUBERON:000162581.95gold quality
adipose tissue of abdominal regionUBERON:000780881.68gold quality
bone marrowUBERON:000237181.45gold quality
right lobe of liverUBERON:000111479.03gold quality
colonic epitheliumUBERON:000039778.75gold quality
substantia nigraUBERON:000203878.37gold quality
ascending aortaUBERON:000149678.30gold quality
subcutaneous adipose tissueUBERON:000219078.20gold quality
descending thoracic aortaUBERON:000234578.15gold quality
minor salivary glandUBERON:000183078.14gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 8.

ExperimentMarker?Max mean expression
E-MTAB-8498yes516.35
E-GEOD-106540yes346.35
E-GEOD-84465yes43.55
E-MTAB-6678yes29.86
E-MTAB-9221yes25.73
E-MTAB-9067yes12.74
E-MTAB-9801yes7.84
E-ANND-3no0.00

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

7 targets.

TargetRegulation
AKT1Activation
CXCR4Activation
IGF1Activation
KDRActivation
MYCActivation
PIK3R1Activation
VEGFAActivation

Upstream regulators (CollecTRI, top): AP1, CCL2, CEBPA, CEBPB, CEBPG, CSF1, FOS, FOSL2, GATA1, GLI3, HAND1, HAND2, IFNG, IL34, IRF4, JUN, JUND, LHX2, MYB, NFKB1, NFKB, PAX3, POU2F1, POU2F2, RELA, RUNX1, SP1, SP3, SPI1, SSRP1, TFAP2A, WT1

miRNA regulators (miRDB)

41 targeting ITGAX, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-3613-3P100.0076.367965
HSA-MIR-150-5P99.9966.691976
HSA-MIR-371B-5P99.9975.344759
HSA-MIR-373-5P99.9875.364753
HSA-MIR-616-5P99.9875.584775
HSA-MIR-3912-5P99.9566.11925
HSA-MIR-629-3P99.8567.991875
HSA-MIR-3121-3P99.8271.963630
HSA-MIR-4713-5P99.7867.801794
HSA-MIR-92A-2-5P99.7567.012164
HSA-MIR-1296-3P99.7264.04636
HSA-MIR-451699.6167.783390
HSA-MIR-211399.5871.221521
HSA-MIR-186-3P99.5166.241685
HSA-MIR-544B99.1867.411632
HSA-MIR-892C-5P99.1670.562116
HSA-MIR-491-5P99.1365.981468
HSA-MIR-443499.1067.011984
HSA-MIR-570399.1067.092053
HSA-MIR-66199.0965.942062
HSA-MIR-3117-5P99.0467.93618
HSA-MIR-4650-3P99.0168.391062
HSA-MIR-6877-3P98.9865.83560
HSA-MIR-6819-3P98.9565.57572
HSA-MIR-4742-3P98.7369.821803
HSA-MIR-6804-5P98.3965.771084
HSA-MIR-653-3P98.3167.711542
HSA-MIR-6831-5P98.2667.20990
HSA-MIR-6867-3P98.1266.071305
HSA-MIR-340-3P98.1168.25679

Literature-anchored findings (GeneRIF, showing 40)

  • Activation of the CD11c gene promoter is mediated by Puralpha during phorbol myristate acetate-induced differentiation of monocytic U937 cells. (PMID:11937543)
  • The presence of CR1 (CD35) and CR4 (CD1c/CD18) on HUVEC indicates that endothelial cells (EC) have the potential to bind C3b and iC3b, respectively, which both mediate biological effects in the course of complement activation. (PMID:12083416)
  • serum amyloid P component does not circulate in complex with C4-binding protein (CD11c antigen), fibronectin or any other major protein ligand (PMID:12100475)
  • myeloid dendritic cells containing this antigen are able to stimulate T lymphocytes (PMID:12351396)
  • abnormal expression of the CD11c gene characteristic of hairy cell leukemia is dependent upon activation of the proto-oncogenes ras and junD (PMID:12576324)
  • adhesion of human neutrophil granulocytes to fibrinogen is greatly increased by plasmin digestion in a mode where alphaXbeta2 dominates the integrin-dependent binding (PMID:15665082)
  • The maturation of dendritic cells induced by CD11c- T cells through TNF-alpha production appears to result in the efficient expansion and activation of killer cells. (PMID:15900581)
  • In DVT subjects, at baseline, the phenotypical expression of CD11b was decreased and that of CD11c was increased, and upon PMN activation in DVT subjects CD11b, CD11c and CD18 increased, while CD11a expression did not show any change (PMID:16037628)
  • expression of the CD11c gene is regulated by PLD1 and is enhanced by Se-MSC during PMA-induced U937 differentiation. (PMID:16716806)
  • Negative stain electron microscopy was used to examine the conformational changes in the ectodomains required for activation of the leukocyte integrins alpha(X)beta(2) and alpha(L)beta(2). (PMID:17045822)
  • The results from this study present TANGO as a novel ligand for CD11c, regulating migratory processes of hematopoietic cells. (PMID:17726152)
  • These data indicate that AP-2 and Ets-1 regulated expression of integrin alpha10 plays a role in migration of malignant melanoma cells. (PMID:17726260)
  • Expression of alpha10 increases during aggregate culture of mesenchymal stem cells in a chondrogenic medium. (PMID:18047418)
  • CD11c transgene identifies a discrete network of dendritic cells in mouse embryonic central nervous system and in postnatal brain cells. (PMID:18386786)
  • The differential involvement of CD11c and CD11b in adhesion and subsequent cytoskeletal changes in monocytes exposed to different conditions. (PMID:18541300)
  • The CD11c antibody was both sensitive and specific for hairy cell leukemia, even in cases with minimal infiltration. (PMID:18580071)
  • CD11c levels decreased in response to anti-TB treatment. CD11c/Arg47Trp polymorphism is not associated with pulmonary tuberculosis. (PMID:19237023)
  • Data show high expression of CD86 and CD11C, moderate expression of CD1a and CD123, low levels of CD83 on dendritic cells after induction by GM-CSF and IL-4. (PMID:19257981)
  • The combination of high environmental stress and low CNS serotonin lead to increased expression of the beta(2)-integrins CD11b and CD11c on monocyte cell surfaces. (PMID:19800635)
  • Diet-induced obesity increased CD11c in both adipose tissue and blood. (PMID:19910635)
  • There was increased expression of CD11c in monocytes of responders to adalimumab monotherapy. (PMID:20032971)
  • Structure of an integrin with an alphaI domain, complement receptor type 4. (PMID:20033057)
  • Depletion of CD11c-positive dendritic cells (DCs) increases the susceptibility of CD11c-diphtheria toxin receptor transgenic mice to infection with cell-free virus in both CD4 cell and non-CD4 fractions. (PMID:20382884)
  • CD141+ dendritic cells are the only cells in human blood that express the chemokine receptor XCR1 and respond to the specific ligand XCL1 by Ca2+ mobilization and potent chemotaxis. (PMID:20479115)
  • Case Report: Possible acceleration of regression by antibiotic treatment in benign cephalic histiocytosis with infiltration of CD11a/CD11c+ macrophages. (PMID:20574620)
  • CD11c-positive dendritic cells play an important role in CD8 T cell responses following replication-defective adenovirus serotype 5 immunization, but striking redundancy for innate cytokines and signaling is revealed. (PMID:20610651)
  • CD11c expression is rare in MCL and may aid in differentiation of CD5+ B-cell neoplasms (PMID:20660331)
  • Data revealed that alpha(X)beta(2) in the extended-open headpiece conformation had high affinity for ligand, whereas both the bent conformation and the extended-closed headpiece conformation represented the low affinity state. (PMID:20679211)
  • Expression of dendritic cell markers CD11c/BDCA-1 and CD123/BDCA-2 in coronary artery disease upon activation in whole blood. (PMID:20888334)
  • During hypertriglyceridemia, monocytes internalize lipids, upregulate CD11c/CD18, and increase adhesion to VCAM-1. (PMID:21030716)
  • CD56(bright)CD11c(positive) cells play a key role in the interleukin (IL)-18-mediated proliferation of gammadelta T cells. (PMID:21239711)
  • CD11c(HI)-expressing first-trimester decidual macrophages are associated with lipid metabolism and inflammation; CD11c(LO)-expressing macrophages are involved in extracellular matrix formation, muscle regulation and tissue growth. (PMID:21257965)
  • Mycobacterial hypersensitivity pneumonitis requires TLR9-MyD88 in lung CD11b+ CD11c+ cells (PMID:21273385)
  • Two large cohorts of systemic sclerosis (SSc) patients of European Caucasian ancestry do not support the implication of ITGAM, ITGAX, and CD58 genes in the genetic susceptibility of SSc, although they were identified as autoimmune disease risk genes. (PMID:21362770)
  • CD11c-positive dendritic cells of transgenic mice express natural killer (NK) cell marker NK1.1 in the thyroid, indicating their NK cell origin. (PMID:21666055)
  • The data obtained suggest that spontaneous cell adhesion to fibrinogen is mediated to a greater extent by CD11b/CD18 integrins, while chemokine-stimulated adhesion and migration is mostly dependent on CD11c/CD18 molecules. (PMID:21874872)
  • CD11c+HLADR+ dendritic cells are present in human ovarian follicular fluid, and their maturity correlates with serum estradiol levels in response to gonadotropins. (PMID:22244783)
  • analysis of complement recognition by integrin alphaXbeta2 (PMID:22393018)
  • Mice lacking protein tyrosine phosphatase Shp1 specifically in dendritic cells (DCs) develop splenomegaly associated with more CD11c+ DCs. (PMID:22539788)
  • Upon expression on surface of human embryonic kidney (HEK)293 cells, alphaXbeta2 supports adhesive, migratory and phagocytic activities of human cells toward Candida albicans. (PMID:22844116)

Cross-species orthologs

9 orthologs

OrganismSymbolGene ID
danio_rerioitgam.1ENSDARG00000002956
danio_rerioitgam.2ENSDARG00000096587
mus_musculusItgaxENSMUSG00000030789
rattus_norvegicusItgaxENSRNOG00000036703
drosophila_melanogasterifFBGN0001250
drosophila_melanogasterItgaPS4FBGN0034005
drosophila_melanogasterItgaPS5FBGN0034880
drosophila_melanogasterscbFBGN0286785
caenorhabditis_elegansWBGENE00003929

Paralogs (17): ITGAL (ENSG00000005844), ITGA3 (ENSG00000005884), ITGA2B (ENSG00000005961), ITGA8 (ENSG00000077943), ITGAE (ENSG00000083457), ITGA6 (ENSG00000091409), ITGA4 (ENSG00000115232), ITGA7 (ENSG00000135424), ITGA11 (ENSG00000137809), ITGAV (ENSG00000138448), ITGA10 (ENSG00000143127), ITGA9 (ENSG00000144668), ITGAD (ENSG00000156886), ITGA5 (ENSG00000161638), ITGA2 (ENSG00000164171), ITGAM (ENSG00000169896), ITGA1 (ENSG00000213949)

Protein

Protein identifiers

Integrin alpha-XP20702 (reviewed: P20702)

Alternative names: CD11 antigen-like family member C, Leu M5, Leukocyte adhesion glycoprotein p150,95 alpha chain, Leukocyte adhesion receptor p150,95

All UniProt accessions (3): A0A087X131, P20702, H3BN02

UniProt curated annotations — full annotation on UniProt →

Function. Integrin alpha-X/beta-2 is a receptor for fibrinogen. It recognizes the sequence G-P-R in fibrinogen. It mediates cell-cell interaction during inflammatory responses. It is especially important in monocyte adhesion and chemotaxis. Functions as a receptor of the erythrocyte-specific adhesion molecule ICAM4 and mediates erythrophagocytosis.

Subunit / interactions. Heterodimer of an alpha and a beta subunit. Alpha-X associates with beta-2.

Subcellular location. Cell membrane.

Tissue specificity. Predominantly expressed in monocytes and granulocytes.

Domain organisation. The integrin I-domain (insert) is a VWFA domain. Integrins with I-domains do not undergo protease cleavage.

Similarity. Belongs to the integrin alpha chain family.

RefSeq proteins (2): NP_000878, NP_001273304 (=MANE)

Domains & families (InterPro)

IDNameType
IPR000413Integrin_alphaFamily
IPR002035VWF_ADomain
IPR013517FG-GAPRepeat
IPR013519Int_alpha_beta-pRepeat
IPR013649Integrin_alpha_Ig-like_1Domain
IPR018184Integrin_alpha_C_CSConserved_site
IPR028994Integrin_alpha_NHomologous_superfamily
IPR032695Integrin_dom_sfHomologous_superfamily
IPR036465vWFA_dom_sfHomologous_superfamily
IPR048285Integrin_alpha_Ig-like_2Domain
IPR048633ITGAX-like_Ig_3Domain

Pfam: PF00092, PF00357, PF01839, PF08441, PF20805, PF21520

UniProt features (189 total): strand 81, helix 21, turn 18, binding site 15, sequence conflict 14, disulfide bond 10, glycosylation site 8, sequence variant 8, repeat 7, topological domain 2, signal peptide 1, chain 1, short sequence motif 1, transmembrane region 1, domain 1

Structure

Experimental structures (PDB)

9 structures.

PDBMethodResolution (Å)
1N3YX-RAY DIFFRACTION1.65
4NEHX-RAY DIFFRACTION2.75
4NENX-RAY DIFFRACTION2.9
5ES4X-RAY DIFFRACTION3.3
3K6SX-RAY DIFFRACTION3.5
3K72X-RAY DIFFRACTION3.7
3K71X-RAY DIFFRACTION3.95
2LUVSOLUTION NMR
9ECMSOLUTION NMR

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-P20702-F188.020.65

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (15): 157; 159; 161; 259; 466; 468; 470; 474; 530; 532; 534; 538

Disulfide bonds (10): 69–76, 108–126, 116–145, 495–506, 639–722, 655–712, 771–777, 848–863, 998–1022, 1027–1032

Glycosylation sites (8): 61, 89, 392, 697, 735, 899, 939, 1050

Function

Pathways and Gene Ontology

Reactome pathways

11 pathways

IDPathway
R-HSA-202733Cell surface interactions at the vascular wall
R-HSA-216083Integrin cell surface interactions
R-HSA-3000178ECM proteoglycans
R-HSA-6785807Interleukin-4 and Interleukin-13 signaling
R-HSA-6798695Neutrophil degranulation
R-HSA-109582Hemostasis
R-HSA-1280215Cytokine Signaling in Immune system
R-HSA-1474244Extracellular matrix organization
R-HSA-168249Innate Immune System
R-HSA-168256Immune System
R-HSA-449147Signaling by Interleukins

MSigDB gene sets: 356 (showing top): GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, AP1_01, GOBP_EPITHELIUM_DEVELOPMENT, MULLIGHAN_NPM1_SIGNATURE_3_UP, REACTOME_INNATE_IMMUNE_SYSTEM, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, RORA1_01, GOCC_SECRETORY_GRANULE, STEARMAN_LUNG_CANCER_EARLY_VS_LATE_DN, MODULE_64, GOBP_POSITIVE_REGULATION_OF_VASCULATURE_DEVELOPMENT, GOCC_CELL_SURFACE, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_MYELINATION, GOBP_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT

GO Biological Process (14): cell adhesion (GO:0007155), cell-matrix adhesion (GO:0007160), integrin-mediated signaling pathway (GO:0007229), positive regulation of cell population proliferation (GO:0008284), animal organ morphogenesis (GO:0009887), positive regulation of gene expression (GO:0010628), positive regulation of cell migration (GO:0030335), positive regulation of myelination (GO:0031643), heterotypic cell-cell adhesion (GO:0034113), positive regulation of angiogenesis (GO:0045766), defense response to virus (GO:0051607), cell-cell adhesion (GO:0098609), positive regulation of endothelial tube morphogenesis (GO:1905956), positive regulation of metabolic process (GO:0009893)

GO Molecular Function (5): integrin binding (GO:0005178), receptor tyrosine kinase binding (GO:0030971), signaling receptor activity (GO:0038023), metal ion binding (GO:0046872), protein binding (GO:0005515)

GO Cellular Component (9): plasma membrane (GO:0005886), integrin complex (GO:0008305), external side of plasma membrane (GO:0009897), cell surface (GO:0009986), membrane (GO:0016020), secretory granule membrane (GO:0030667), integrin alphaX-beta2 complex (GO:0034689), tertiary granule membrane (GO:0070821), ficolin-1-rich granule membrane (GO:0101003)

Reactome top-level categories

Rollup of top-6 pathways:

CategoryPathways
Extracellular matrix organization2
Immune System2
Hemostasis1
Signaling by Interleukins1
Innate Immune System1
Cytokine Signaling in Immune system1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
positive regulation of cellular process3
signaling receptor binding2
cellular anatomical structure2
secretory granule membrane2
tertiary granule2
cellular process1
cell-substrate adhesion1
cell surface receptor signaling pathway1
cell population proliferation1
regulation of cell population proliferation1
anatomical structure morphogenesis1
animal organ development1
gene expression1
regulation of gene expression1
positive regulation of macromolecule biosynthetic process1
cell migration1
regulation of cell migration1
positive regulation of cell motility1
regulation of myelination1
positive regulation of nervous system process1
myelination1
cell-cell adhesion1
angiogenesis1
regulation of angiogenesis1
positive regulation of vasculature development1
defense response1
response to virus1
cell adhesion1
positive regulation of multicellular organismal process1
endothelial tube morphogenesis1
regulation of endothelial tube morphogenesis1
positive regulation of morphogenesis of an epithelium1
metabolic process1
regulation of metabolic process1
protein-containing complex binding1
cell adhesion molecule binding1
protein tyrosine kinase binding1
molecular transducer activity1
cation binding1
binding1

Protein interactions and networks

STRING

3320 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ITGAXITGB2P05107998
ITGAXICAM1P05362980
ITGAXCD4P01730941
ITGAXCD8AP01732932
ITGAXIFNGP01579926
ITGAXPTPRCP08575911
ITGAXCD19P15391903
ITGAXVCAM1P19320894
ITGAXCD86P42081890
ITGAXCD80P33681883
ITGAXFCGR3AP08637881
ITGAXFCGR3BO75015881
ITGAXCD1CP29017879
ITGAXFOXP3Q9BZS1874
ITGAXCD40P25942872

IntAct

5 interactions, top by confidence:

ABTypeScore
ITGAXITGB2psi-mi:“MI:0407”(direct interaction)0.660
ITGAXpepTpsi-mi:“MI:0915”(physical association)0.000

BioGRID (7): ITGAX (Affinity Capture-MS), ITGAX (Reconstituted Complex), ITGAX (Proximity Label-MS), ITGAX (Reconstituted Complex), NDUFB10 (Cross-Linking-MS (XL-MS)), ITGAX (Cross-Linking-MS (XL-MS)), PGM2 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A2ARA8, B0S5N4, B8JK39, F1MMS9, O75578, O94985, P05555, P08514, P08648, P11215, P11688, P13612, P17301, P17852, P18614, P20701, P20702, P24063, P26006, P26009, P38570, P43406, P53708, P53710, P53711, P61622, P61625, P70206, P70275, P80747, Q00651, Q06274, Q13219, Q13349, Q13683, Q13797, Q3V0T4, Q3V3R4, Q5STE3, Q60677

Diamond homologs: A2AX52, A6H584, A6NMZ7, A6QLN9, A8TX70, E7FF10, O00339, O08746, O42401, O75578, O89029, P05099, P05555, P11215, P12111, P15989, P20701, P20702, P34576, P51942, P61625, Q02388, Q13349, Q21281, Q21540, Q28902, Q3V0T4, Q63870, Q642A6, Q6PCB0, Q6UXI7, Q8C6K9, Q8NFW1, Q8R2Z5, Q90615, Q91145, Q923P0, Q95LI2, Q96P44, Q9P218

SIGNOR signaling

3 interactions.

AEffectBMechanism
FGAup-regulatesITGAXbinding
ICAM1up-regulatesITGAXbinding
ITGAX“form complex”“AX/b2 integrin”binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

222 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance156
Likely benign22
Benign3

Top pathogenic / likely-pathogenic (0)

SpliceAI

4932 predictions. Top by Δscore:

VariantEffectΔscore
16:31355289:CAGG:Cdonor_loss1.0000
16:31355292:G:Tdonor_loss1.0000
16:31355984:G:GGdonor_gain1.0000
16:31356620:C:CAacceptor_gain1.0000
16:31356620:CGCAG:Cacceptor_loss1.0000
16:31356621:GCAGG:Gacceptor_loss1.0000
16:31356622:CA:Cacceptor_loss1.0000
16:31356623:A:AGacceptor_gain1.0000
16:31356623:A:Tacceptor_loss1.0000
16:31356623:AG:Aacceptor_gain1.0000
16:31356623:AGG:Aacceptor_gain1.0000
16:31356623:AGGGT:Aacceptor_gain1.0000
16:31356624:G:Aacceptor_gain1.0000
16:31356624:G:GAacceptor_gain1.0000
16:31356624:GGG:Gacceptor_gain1.0000
16:31356624:GGGT:Gacceptor_gain1.0000
16:31356624:GGGTG:Gacceptor_gain1.0000
16:31356724:GCAGG:Gdonor_gain1.0000
16:31356727:GG:Gdonor_gain1.0000
16:31356727:GGGT:Gdonor_loss1.0000
16:31356728:GG:Gdonor_gain1.0000
16:31356728:GGTG:Gdonor_loss1.0000
16:31356729:G:GCdonor_loss1.0000
16:31356729:G:GGdonor_gain1.0000
16:31356730:T:Adonor_loss1.0000
16:31357029:A:AGacceptor_gain1.0000
16:31357029:AGT:Aacceptor_gain1.0000
16:31357030:G:GCacceptor_gain1.0000
16:31357030:GT:Gacceptor_gain1.0000
16:31357030:GTG:Gacceptor_gain1.0000

AlphaMissense

7631 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
16:31359935:T:CF193L0.993
16:31359937:C:AF193L0.993
16:31359937:C:GF193L0.993
16:31371699:T:GF692C0.988
16:31380550:A:CS1068R0.988
16:31380552:T:AS1068R0.988
16:31380552:T:GS1068R0.988
16:31372604:T:GF767C0.986
16:31363225:T:CF521L0.985
16:31363227:T:AF521L0.985
16:31363227:T:GF521L0.985
16:31355964:T:CF37L0.983
16:31355966:T:AF37L0.983
16:31355966:T:GF37L0.983
16:31380954:A:CS1112R0.982
16:31380956:C:AS1112R0.982
16:31380956:C:GS1112R0.982
16:31359786:T:CF173L0.981
16:31359788:C:AF173L0.981
16:31359788:C:GF173L0.981
16:31361156:T:CF319L0.981
16:31361158:T:AF319L0.981
16:31361158:T:GF319L0.981
16:31359740:T:AD157E0.979
16:31359740:T:GD157E0.979
16:31356686:T:AC69S0.978
16:31356687:G:CC69S0.978
16:31357312:C:GC126W0.978
16:31360363:T:CL254P0.978
16:31359768:T:CF167L0.977

dbSNP variants (sampled 300 via entrez): RS1000145527 (16:31376223 A>G), RS1000200595 (16:31373783 G>A), RS1000211681 (16:31368603 A>G,T), RS1000391622 (16:31370154 C>T), RS1000404770 (16:31379529 A>G), RS1000635249 (16:31371454 C>A,T), RS1000724957 (16:31371270 G>A,C), RS1000762295 (16:31375779 C>G), RS1000827863 (16:31374355 C>T), RS1000979372 (16:31365013 C>G), RS1001159391 (16:31363452 C>G,T), RS1001196016 (16:31376260 T>C), RS1001362567 (16:31381270 G>A,T), RS1001507316 (16:31363642 G>A,T), RS1001560645 (16:31360252 C>A)

Disease associations

OMIM: gene MIM:151510 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

5 associations (top):

StudyTraitp-value
GCST000144_6Systemic lupus erythematosus3.000000e-11
GCST002655_1IgA nephropathy1.000000e-08
GCST002655_10IgA nephropathy8.000000e-13
GCST002655_9IgA nephropathy1.000000e-11
GCST003262_328Post bronchodilator FEV11.000000e-07

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0004314forced expiratory volume

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: catalytic receptor — Integrins

CTD chemical–gene interactions

60 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Tretinoindecreases reaction, increases expression6
Benzo(a)pyreneaffects methylation, increases expression, increases methylation3
sodium arseniteincreases expression2
tesmilifenedecreases expression2
Arsenic Trioxidedecreases expression, increases expression, decreases reaction2
Cisplatinaffects expression, affects cotreatment, increases expression2
Zincaffects cotreatment, affects expression, increases expression2
GSK-J4increases expression1
sotorasibaffects cotreatment, decreases expression1
lasiocarpineincreases expression1
methyleugenolincreases expression1
triphenyl phosphateaffects expression1
propionaldehydeincreases expression1
bisphenol Adecreases expression, decreases reaction1
tris(2-butoxyethyl) phosphateaffects expression1
sodium bichromatedecreases expression1
sulforaphaneincreases expression1
tris(1,3-dichloro-2-propyl)phosphateincreases expression1
butyraldehydeincreases expression1
aflatoxin B2increases methylation1
endotoxin, Escherichia colidecreases expression, decreases reaction1
pentanalincreases expression1
bryostatin 1increases expression1
di-n-butylphosphoric acidaffects expression1
perfluorooctane sulfonic acidincreases expression1
CGP 52608affects binding, increases reaction1
abrineincreases expression1
bisphenol Sdecreases expression1
jinfukangaffects cotreatment, increases expression1
gardiquimoddecreases expression, decreases reaction1

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_B8IVAbcam HCT 116 ITGAX KOCancer cell lineMale
CVCL_B8XQAbcam MCF-7 ITGAX KOCancer cell lineFemale
CVCL_B9L5Abcam A-549 ITGAX KOCancer cell lineMale
CVCL_E4AJK-562 P/5Cancer cell lineFemale

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): IgA glomerulonephritis