ITGA3
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Also known as CD49cVLA3aVCA-2GAP-B3
Summary
ITGA3 (integrin subunit alpha 3, HGNC:6139) is a protein-coding gene on chromosome 17q21.33, encoding Integrin alpha-3 (P26006). Integrin alpha-3/beta-1 is a receptor for fibronectin, laminin, collagen, epiligrin, thrombospondin and CSPG4.
The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function as cell surface adhesion molecules. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 3 subunit. This subunit joins with a beta 1 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. Expression of this gene may be correlated with breast cancer metastasis.
Source: NCBI Gene 3675 — RefSeq curated summary.
At a glance
- Gene–disease (curated): epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome (Definitive, ClinGen)
- Clinical variants (ClinVar): 625 total — 5 pathogenic, 22 likely-pathogenic
- Phenotypes (HPO): 35
- Druggable target: yes
- Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
- MANE Select transcript:
NM_002204
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6139 |
| Approved symbol | ITGA3 |
| Name | integrin subunit alpha 3 |
| Location | 17q21.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CD49c, VLA3a, VCA-2, GAP-B3 |
| Ensembl gene | ENSG00000005884 |
| Ensembl biotype | protein_coding |
| OMIM | 605025 |
| Entrez | 3675 |
Gene structure
Transcript identifiers
Ensembl transcripts: 19 — 9 retained_intron, 7 protein_coding, 3 nonsense_mediated_decay
ENST00000007722, ENST00000320031, ENST00000504417, ENST00000505306, ENST00000505552, ENST00000505612, ENST00000506401, ENST00000506437, ENST00000506827, ENST00000507771, ENST00000508100, ENST00000510809, ENST00000512553, ENST00000514834, ENST00000515147, ENST00000570989, ENST00000876971, ENST00000876972, ENST00000876973
RefSeq mRNA: 1 — MANE Select: NM_002204
NM_002204
CCDS: CCDS11558
Canonical transcript exons
ENST00000320031 — 26 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000925071 | 50077379 | 50077447 |
| ENSE00000925073 | 50076974 | 50077121 |
| ENSE00002028816 | 50056110 | 50056645 |
| ENSE00002044743 | 50089110 | 50090481 |
| ENSE00003459318 | 50081310 | 50081408 |
| ENSE00003465654 | 50075459 | 50075526 |
| ENSE00003471267 | 50064077 | 50064204 |
| ENSE00003474704 | 50078824 | 50078926 |
| ENSE00003529186 | 50076584 | 50076681 |
| ENSE00003532073 | 50078207 | 50078284 |
| ENSE00003557526 | 50074448 | 50074534 |
| ENSE00003561204 | 50073916 | 50074004 |
| ENSE00003600504 | 50071311 | 50071518 |
| ENSE00003603461 | 50078046 | 50078125 |
| ENSE00003610389 | 50088225 | 50088366 |
| ENSE00003617587 | 50074144 | 50074280 |
| ENSE00003639446 | 50075599 | 50075735 |
| ENSE00003641332 | 50071986 | 50072182 |
| ENSE00003644478 | 50080262 | 50080375 |
| ENSE00003650723 | 50064528 | 50064607 |
| ENSE00003657377 | 50079435 | 50079557 |
| ENSE00003661042 | 50068056 | 50068305 |
| ENSE00003665798 | 50079076 | 50079258 |
| ENSE00003682794 | 50076326 | 50076475 |
| ENSE00003682928 | 50087744 | 50087869 |
| ENSE00003693256 | 50070844 | 50070930 |
Expression profiles
Bgee: expression breadth ubiquitous, 149 present calls, max score 98.50.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 51.1013 / max 551.4505, expressed in 1596 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 161572 | 31.3519 | 1497 |
| 161569 | 13.1287 | 1310 |
| 161571 | 4.0893 | 1275 |
| 161570 | 1.7322 | 957 |
| 161575 | 0.4179 | 248 |
| 161568 | 0.2577 | 97 |
| 208248 | 0.1236 | 50 |
Top tissues by expression
158 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| metanephric glomerulus | UBERON:0004736 | 98.50 | gold quality |
| right coronary artery | UBERON:0001625 | 98.32 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 97.79 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 97.76 | gold quality |
| metanephros cortex | UBERON:0010533 | 97.70 | gold quality |
| popliteal artery | UBERON:0002250 | 97.60 | gold quality |
| tibial artery | UBERON:0007610 | 97.60 | gold quality |
| right lung | UBERON:0002167 | 97.44 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 97.43 | gold quality |
| ascending aorta | UBERON:0001496 | 97.42 | gold quality |
| thoracic aorta | UBERON:0001515 | 97.42 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 97.36 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 97.24 | gold quality |
| thyroid gland | UBERON:0002046 | 97.23 | gold quality |
| left coronary artery | UBERON:0001626 | 96.66 | gold quality |
| islet of Langerhans | UBERON:0000006 | 96.49 | gold quality |
| mucosa of stomach | UBERON:0001199 | 96.35 | gold quality |
| lung | UBERON:0002048 | 96.30 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 95.53 | gold quality |
| right uterine tube | UBERON:0001302 | 94.98 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 94.82 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 94.72 | gold quality |
| pituitary gland | UBERON:0000007 | 94.27 | gold quality |
| kidney | UBERON:0002113 | 94.20 | gold quality |
| adenohypophysis | UBERON:0002196 | 94.11 | gold quality |
| cortex of kidney | UBERON:0001225 | 94.10 | gold quality |
| duodenum | UBERON:0002114 | 94.06 | gold quality |
| placenta | UBERON:0001987 | 93.95 | gold quality |
| transverse colon | UBERON:0001157 | 93.90 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 93.72 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 15.62 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): ETS1, HOXD3, IL1B, ITGB8, MYC, SNAI2, SP3, SPI1, TGFB1, YY1
Functional genomics
ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map
Literature-anchored findings (GeneRIF, showing 40)
- Data demonstrate that multiple tetraspanin (transmembrane 4 superfamily) proteins such as CD151 are palmitoylated, and that palmitoylation is not required for cd151-alpha3beta1 integrin association. (PMID:11907260)
- Human prostate tumors display on their cell surface the alpha6beta1 and/or alpha3beta1 integrins (PMID:11988844)
- initial adhesion of endometrial cells to mesothelium is not mediated by alpha(3)beta(1)integrin (PMID:12372459)
- Integrin-alpha 3 sub-unit participates the process of regulating growth of meningiomas. (PMID:12452046)
- expression of alpha3 integrin subunit is responsible for differentiation-associated changes in cells behavior in terminally differentiated oral keratinocytes (PMID:12699087)
- signaling through both constitutively expressed alpha2 integrin and Matrigel-induced alpha3 integrin expression is required to acquire a differentiated phenotype in Caco-2 cells. (PMID:12717361)
- Data show that macrophage stimulating protein (MSP) and its receptor (Ron) induce phosphorylation of both Ron and alpha6beta4 integrin, and result in activation of alpha3beta1 integrin. (PMID:12919677)
- Disulfide bonding patterns of the integrin alpha 3 chain are described; the alpha chain displays differences in the disulfide patterns of those bonds near their C-terminal regions linking the heavy and light chains. (PMID:14596610)
- Data demonstrate that alpha6beta4 integrin mediates pancreatic epithelial cell adhesion to Netrin-1, whereas recruitment of alpha6beta4 and alpha3beta1 regulate the migration of putative pancreatic progenitors on Netrin-1. (PMID:14602071)
- ligand-binding specificities of integrin alpha3beta1 and alpha6beta1 (PMID:14607975)
- alpha3beta1 integrin binding to laminin-5 depends on its proteolytic processing (PMID:14612440)
- results suggest that a direct interaction occurs between the Adenovirus penton base protein and the integrin receptor alpha3beta1 in vitro and in vivo (PMID:14645603)
- results show how laterally associated EWI-2 might regulate alpha3beta1 function in disease and development, and demonstrate how tetraspanin proteins can assemble multiple nontetraspanin proteins into functional complexes (PMID:14662754)
- alpha3beta1, alpha4beta1 and alphaVbeta1 integrins may play an important role in the implantation process (PMID:14666169)
- Data suggest that the early arrest of tumor cells in the pulmonary vasculature through interaction of alpha3beta1 integrin with laminin-5 in exposed basement membrane provides a basis for cell arrest during pulmonary metastasis. (PMID:15024036)
- Alpha 3 beta 1 integrin is necessary and sufficient for maximal keratinocyte survival on laminin-5. (PMID:15280429)
- cAMP-Epac-Rap1 pathway regulates cell spreading and cell adhesion to laminin-5 through the alpha3beta1 integrin but not the alpha6beta4 integrin (PMID:15302884)
- Results indicate that CD151 association modulates the ligand-binding activity of integrin alpha3beta1 through stabilizing its activated conformation not only with purified proteins but also in a physiological context. (PMID:15677332)
- Beta ig-h3 induces keratinocyte differentiation via modulation of involucrin and transglutaminase expression through the integrin alpha3beta1 and the phosphatidylinositol 3-kinase/Akt signaling pathway (PMID:15805105)
- KSHV gB can activate VEGFR-3 on the microvascular endothelium and modulate endothelial cell migration and proliferation via an interaction between the alpha3beta1 integrin and the VEGFR-3 receptor (PMID:15878864)
- alpha3beta1 integrin binding results in a suppression of the interleukin-1 signaling pathway leading to the activation of NF-(kappa)B (PMID:15919367)
- alpha3, alpha5, and alpha6 beta1 integrins are expressed in ductal cells at 8 weeks, before glucagon- and insulin-immunoreactive cells bud off in fetal pancrea. (PMID:15983209)
- the signaling network involving Smad-dependent TGFbeta, PKCdelta, and integrin alpha2beta1/alpha3beta1, regulates cell spreading, motility, and invasion of the SNU16mAd gastric carcinoma cell variant (PMID:16055706)
- phenotypic conversion and reversion of bladder cancer cells is controlled by a glycosynapse 3 microdomain through GM3-mediated interaction of alpha3beta1 integrin with CD9 (PMID:16103120)
- localized expression of the integrin alpha3 protein is regulated at the level of RNA localization by MBNL1; integrin alpha3 transcripts are physically associated with MLP1 in cells and MLP1 binds to a specific ACACCC motif in the integrin alpha3 3’ UTR (PMID:16273094)
- Thus, the integrin/Src pathway negatively regulates the induction of long-term plasticity at inhibitory synapses on a cerebellar Purkinje cells. (PMID:16307893)
- Data show that alpha6 and alpha3 integrin subunits interact with laminin 5 to increase expression of E-cadherin, and suggest that phosphoinositide 3-kinase (PI 3-kinase) activation plays a key role in this cross-talk. (PMID:16339173)
- Our data show that alpha3beta1 integrin function may be altered by glycosylation, that both subunits contribute to these changes, and glycosylation may be considered a newly found mechanism in the regulation of integrin function. (PMID:16373174)
- Results suggest that loss of E-cadherin function is linked to regulation of cell-cell and cell-matrix adhesion, based in part on cell surface expression of alpha2, alpha3 and beta1 integrins. (PMID:16390868)
- decreased podocyte expression of alpha3beta1 integrins is closely related with podocyte depletion, glomerular sclerosis, and daily protein loss in patients with primary focal glomerulosclerosis (PMID:16459165)
- TGF-beta1 stimulates hepatoma cells to express a higher level of alpha3 integrin by transcriptional upregulation via Ets transcription factors and to exhibit a more invasive phenotype. (PMID:16475024)
- This study supports matrix-induced clustering of alpha3beta1 integrin promotes uPAR/alpha3beta1 interaction; potentiating cellular signal transduction pathways culminating in activation of uPA expression and enhanced uPA-dependent invasive behavior. (PMID:16510444)
- EWI proteins EWI-2 and EWI-F, alpha3beta1 and alpha6beta4 integrins, and protein palmitoylation have contrasting effects on cell surface CD9 organization (PMID:16537545)
- Both integrin alpha3beta1- and alpha6beta4-dependent cell adhesion to laminin-5 were also impaired in CD151-silenced cells. (PMID:16571677)
- Slug regulates integrin alpha3, beta1, and beta4 expression and cell proliferation in human epidermal keratinocytes (PMID:16707493)
- integrin alpha3beta1 is a receptor for the alpha3NC1 domain and transdominantly inhibits integrin alphavbeta3 activation (PMID:16731529)
- Acquisition of multiple antitumor drugs was accompanied by a drastically reduced expression of alpha3beta1 in the adenocarcinoma cells. (PMID:16732726)
- Binding of Borrelia burgdorferi to integrin alpha 3 beta 1 results in release of inflammatory mediators from human chondrocytes and is proposed as a Toll-like receptor-independent pathway for activation of the innate immune response. (PMID:16785564)
- Chondrocytes with low chondrogenic capacity expressed higher levels of IGF-1, MMP-2, aggrecanase 2, while chondrocytes with high chondrogenic capacity expressed higher levels of CD44, CD151, and CD49c. (PMID:17265493)
- Integrin-mediated adhesion via alpha3beta1, but not alpha6beta4 integrin, supports cell survival through EGFR by signaling downstream to Erk. (PMID:17475774)
Cross-species orthologs
11 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | itga3b | ENSDARG00000012824 |
| danio_rerio | itga3a | ENSDARG00000037917 |
| mus_musculus | Itga3 | ENSMUSG00000001507 |
| rattus_norvegicus | Itga3 | ENSRNOG00000004276 |
| drosophila_melanogaster | if | FBGN0001250 |
| drosophila_melanogaster | mew | FBGN0004456 |
| drosophila_melanogaster | ItgaPS4 | FBGN0034005 |
| drosophila_melanogaster | ItgaPS5 | FBGN0034880 |
| drosophila_melanogaster | scb | FBGN0286785 |
| caenorhabditis_elegans | WBGENE00002081 | |
| caenorhabditis_elegans | WBGENE00003929 |
Paralogs (17): ITGAL (ENSG00000005844), ITGA2B (ENSG00000005961), ITGA8 (ENSG00000077943), ITGAE (ENSG00000083457), ITGA6 (ENSG00000091409), ITGA4 (ENSG00000115232), ITGA7 (ENSG00000135424), ITGA11 (ENSG00000137809), ITGAV (ENSG00000138448), ITGAX (ENSG00000140678), ITGA10 (ENSG00000143127), ITGA9 (ENSG00000144668), ITGAD (ENSG00000156886), ITGA5 (ENSG00000161638), ITGA2 (ENSG00000164171), ITGAM (ENSG00000169896), ITGA1 (ENSG00000213949)
Protein
Protein identifiers
Integrin alpha-3 — P26006 (reviewed: P26006)
Alternative names: CD49 antigen-like family member C, FRP-2, Galactoprotein B3, VLA-3 subunit alpha
All UniProt accessions (7): P26006, A0A140VJM0, D6R9X8, H0YA32, H0YA49, K7EMU3, K7EQJ2
UniProt curated annotations — full annotation on UniProt →
Function. Integrin alpha-3/beta-1 is a receptor for fibronectin, laminin, collagen, epiligrin, thrombospondin and CSPG4. Integrin alpha-3/beta-1 provides a docking site for FAP (seprase) at invadopodia plasma membranes in a collagen-dependent manner and hence may participate in the adhesion, formation of invadopodia and matrix degradation processes, promoting cell invasion. Alpha-3/beta-1 may mediate with LGALS3 the stimulation by CSPG4 of endothelial cells migration. (Microbial infection) Integrin ITGA3:ITGB1 may act as a receptor for R.delemar CotH7 in alveolar epithelial cells, which may be an early step in pulmonary mucormycosis disease progression.
Subunit / interactions. Heterodimer of an alpha and a beta subunit. The alpha subunit is composed of a heavy and a light chain linked by a disulfide bond. Alpha-3 associates with beta-1. Interacts with HPS5. Interacts with FAP (seprase); the interaction occurs at the cell surface of invadopodia membrane in a collagen-dependent manner.
Subcellular location. Cell membrane. Cell projection. Invadopodium membrane. Filopodium membrane.
Tissue specificity. Isoform 1 is widely expressed. Isoform 2 is expressed in brain and heart. In brain, both isoforms are exclusively expressed on vascular smooth muscle cells, whereas in heart isoform 1 is strongly expressed on vascular smooth muscle cells, isoform 2 is detected only on endothelial vein cells.
Post-translational modifications. Isoform 1, but not isoform 2, is phosphorylated on serine residues. Phosphorylation increases after phorbol 12-myristate 13-acetate stimulation.
Disease relevance. Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome (JEB7) [MIM:614748] A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. JEB7 is an autosomal recessive form associated with congenital nephrotic syndrome and interstitial lung disease. The respiratory and renal features predominate, and lung involvement accounts for the lethal course of the disease. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the integrin alpha chain family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P26006-2 | 1, Alpha-3A | yes |
| P26006-1 | 2, Alpha-3B |
RefSeq proteins (1): NP_002195* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000413 | Integrin_alpha | Family |
| IPR013517 | FG-GAP | Repeat |
| IPR013519 | Int_alpha_beta-p | Repeat |
| IPR013649 | Integrin_alpha_Ig-like_1 | Domain |
| IPR018184 | Integrin_alpha_C_CS | Conserved_site |
| IPR028994 | Integrin_alpha_N | Homologous_superfamily |
| IPR032695 | Integrin_dom_sf | Homologous_superfamily |
| IPR048285 | Integrin_alpha_Ig-like_2 | Domain |
| IPR048286 | Integrin_alpha_Ig-like_3 | Domain |
Pfam: PF01839, PF08441, PF20805, PF20806
UniProt features (62 total): glycosylation site 14, binding site 13, disulfide bond 9, repeat 7, sequence variant 6, chain 3, region of interest 2, topological domain 2, signal peptide 1, short sequence motif 1, lipid moiety-binding region 1, transmembrane region 1, splice variant 1, mutagenesis site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P26006-F1 | 83.88 | 0.45 |
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 (13): 315; 317; 319; 323; 378; 380; 382; 386; 439; 441; 443; 445 …
Post-translational modifications (1): 1016
Disulfide bonds (9): 94–103, 140–162, 185–197, 485–490, 496–550, 615–621, 694–702, 846–904, 911–916
Glycosylation sites (14): 86, 107, 265, 500, 511, 573, 605, 656, 697, 841, 857, 926, 935, 969
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 1016 | abolishes palmitoylation. |
Function
Pathways and Gene Ontology
Reactome pathways
11 pathways
| ID | Pathway |
|---|---|
| R-HSA-210991 | Basigin interactions |
| R-HSA-216083 | Integrin cell surface interactions |
| R-HSA-3000157 | Laminin interactions |
| R-HSA-8874081 | MET activates PTK2 signaling |
| R-HSA-109582 | Hemostasis |
| R-HSA-1474244 | Extracellular matrix organization |
| R-HSA-162582 | Signal Transduction |
| R-HSA-202733 | Cell surface interactions at the vascular wall |
| R-HSA-6806834 | Signaling by MET |
| R-HSA-8875878 | MET promotes cell motility |
| R-HSA-9006934 | Signaling by Receptor Tyrosine Kinases |
MSigDB gene sets: 490 (showing top):
GOBP_MEMORY, MODULE_52, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, CHIBA_RESPONSE_TO_TSA_UP, GOBP_COGNITION, HNF3ALPHA_Q6, GOBP_BEHAVIOR, GOBP_FORMATION_OF_PRIMARY_GERM_LAYER, MODULE_64, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOCC_CELL_SURFACE, GOBP_CELLULAR_COMPONENT_MAINTENANCE, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY
GO Biological Process (35): neuron migration (GO:0001764), cell-matrix adhesion (GO:0007160), integrin-mediated signaling pathway (GO:0007229), Rho protein signal transduction (GO:0007266), heart development (GO:0007507), memory (GO:0007613), response to xenobiotic stimulus (GO:0009410), positive regulation of gene expression (GO:0010628), positive regulation of epithelial cell migration (GO:0010634), positive regulation of cell-substrate adhesion (GO:0010811), positive regulation of neuron projection development (GO:0010976), regulation of transforming growth factor beta receptor signaling pathway (GO:0017015), regulation of Wnt signaling pathway (GO:0030111), lung development (GO:0030324), regulation of BMP signaling pathway (GO:0030510), negative regulation of cell projection organization (GO:0031345), response to gonadotropin (GO:0034698), negative regulation of Rho protein signal transduction (GO:0035024), exploration behavior (GO:0035640), skin development (GO:0043588), mesodermal cell differentiation (GO:0048333), leukocyte migration (GO:0050900), maternal process involved in female pregnancy (GO:0060135), nephron development (GO:0072006), dendritic spine maintenance (GO:0097062), renal filtration (GO:0097205), cell-cell adhesion (GO:0098609), synaptic membrane adhesion (GO:0099560), positive regulation of protein localization to plasma membrane (GO:1903078), system process (GO:0003008), cell adhesion (GO:0007155), regulation of signal transduction (GO:0009966), cell differentiation (GO:0030154), system development (GO:0048731), postsynapse organization (GO:0099173)
GO Molecular Function (11): fibronectin binding (GO:0001968), protease binding (GO:0002020), integrin binding (GO:0005178), collagen binding (GO:0005518), protein domain specific binding (GO:0019904), signaling receptor activity (GO:0038023), laminin binding (GO:0043236), metal ion binding (GO:0046872), protein heterodimerization activity (GO:0046982), protein binding (GO:0005515), protein-containing complex binding (GO:0044877)
GO Cellular Component (24): plasma membrane (GO:0005886), focal adhesion (GO:0005925), integrin complex (GO:0008305), external side of plasma membrane (GO:0009897), cell surface (GO:0009986), basolateral plasma membrane (GO:0016323), filopodium membrane (GO:0031527), neuromuscular junction (GO:0031594), integrin alpha3-beta1 complex (GO:0034667), signaling receptor complex (GO:0043235), postsynaptic membrane (GO:0045211), perinuclear region of cytoplasm (GO:0048471), presynaptic active zone membrane (GO:0048787), excitatory synapse (GO:0060076), extracellular exosome (GO:0070062), cell periphery (GO:0071944), synaptic membrane (GO:0097060), glutamatergic synapse (GO:0098978), growth cone filopodium (GO:1990812), membrane (GO:0016020), growth cone (GO:0030426), cell projection (GO:0042995), synapse (GO:0045202), anchoring junction (GO:0070161)
Reactome top-level categories
Rollup of top-7 pathways:
| Category | Pathways |
|---|---|
| Extracellular matrix organization | 2 |
| Cell surface interactions at the vascular wall | 1 |
| MET promotes cell motility | 1 |
| Hemostasis | 1 |
| Signaling by Receptor Tyrosine Kinases | 1 |
| Signaling by MET | 1 |
| Signal Transduction | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| synapse | 4 |
| animal organ development | 3 |
| protein binding | 3 |
| cell-substrate adhesion | 2 |
| regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 2 |
| protein-containing complex binding | 2 |
| binding | 2 |
| plasma membrane region | 2 |
| filopodium | 2 |
| synaptic membrane | 2 |
| cell migration | 1 |
| generation of neurons | 1 |
| cell surface receptor signaling pathway | 1 |
| small GTPase-mediated signal transduction | 1 |
| circulatory system development | 1 |
| learning or memory | 1 |
| response to chemical | 1 |
| gene expression | 1 |
| regulation of gene expression | 1 |
| positive regulation of macromolecule biosynthetic process | 1 |
| epithelial cell migration | 1 |
| regulation of epithelial cell migration | 1 |
| positive regulation of cell migration | 1 |
| regulation of cell-substrate adhesion | 1 |
| positive regulation of cell adhesion | 1 |
| regulation of neuron projection development | 1 |
| neuron projection development | 1 |
| positive regulation of cell projection organization | 1 |
| transforming growth factor beta receptor signaling pathway | 1 |
| regulation of cellular response to transforming growth factor beta stimulus | 1 |
| regulation of signal transduction | 1 |
| Wnt signaling pathway | 1 |
| respiratory tube development | 1 |
| respiratory system development | 1 |
| BMP signaling pathway | 1 |
| regulation of cellular response to growth factor stimulus | 1 |
| cell projection organization | 1 |
| regulation of cell projection organization | 1 |
| negative regulation of cellular component organization | 1 |
Protein interactions and networks
STRING
1890 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ITGA3 | ITGB1 | P05556 | 995 |
| ITGA3 | FN1 | P02751 | 990 |
| ITGA3 | CD151 | P48509 | 967 |
| ITGA3 | CD9 | P21926 | 918 |
| ITGA3 | ITGB4 | P16144 | 890 |
| ITGA3 | ITGB5 | P18084 | 796 |
| ITGA3 | PTK2 | Q05397 | 784 |
| ITGA3 | ITGB3 | P05106 | 775 |
| ITGA3 | ITGB6 | P18564 | 745 |
| ITGA3 | LAMA3 | Q16787 | 736 |
| ITGA3 | CD81 | P18582 | 716 |
| ITGA3 | SRC | P12931 | 706 |
| ITGA3 | ITGA2 | P17301 | 694 |
| ITGA3 | ITGAV | P06756 | 689 |
| ITGA3 | RICTOR | Q6R327 | 687 |
IntAct
75 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TSPAN15 | ADAM10 | psi-mi:“MI:0914”(association) | 0.840 |
| TSPAN5 | ADAM10 | psi-mi:“MI:0914”(association) | 0.800 |
| CD151 | ITGA3 | psi-mi:“MI:0915”(physical association) | 0.760 |
| CD151 | ITGA3 | psi-mi:“MI:0403”(colocalization) | 0.760 |
| ITGA3 | CD151 | psi-mi:“MI:0403”(colocalization) | 0.760 |
| CD9 | ADAM10 | psi-mi:“MI:0914”(association) | 0.750 |
| ADAM10 | CD9 | psi-mi:“MI:0914”(association) | 0.750 |
| TSPAN14 | ADAM10 | psi-mi:“MI:0914”(association) | 0.740 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| SH3KBP1 | USP27X | psi-mi:“MI:0914”(association) | 0.640 |
| CFTR | HAX1 | psi-mi:“MI:0914”(association) | 0.610 |
| ITGA3 | LGALS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCGB1D1 | FAM234B | psi-mi:“MI:0914”(association) | 0.530 |
| LGALS1 | PODXL | psi-mi:“MI:0914”(association) | 0.530 |
| LGALS1 | LAMA5 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (114): ITGA3 (Affinity Capture-MS), ITGA3 (Affinity Capture-MS), FHL2 (Affinity Capture-Western), BIN1 (Two-hybrid), ITGA3 (Affinity Capture-MS), ITGA3 (Affinity Capture-MS), ITGA3 (Affinity Capture-MS), ITGA3 (Affinity Capture-MS), ITGA3 (Affinity Capture-MS), ITGA3 (Affinity Capture-Western), ITGA3 (Reconstituted Complex), ITGA3 (Affinity Capture-MS), ITGA3 (Proximity Label-MS), ITGA3 (Proximity Label-MS), RABIF (Two-hybrid)
ESM2 similar proteins: A1A5Y0, A1KZ92, A2AJ76, B0S5N4, D3YXG0, D3ZPX4, F1MMS9, O00187, O55005, O60500, O75093, O88279, O88280, P11627, P17852, P26006, P32004, P51805, P57110, P59511, P70208, P85171, Q05695, Q0PMG2, Q13219, Q3UH53, Q4KMG0, Q62470, Q62918, Q7Z5N4, Q80TR4, Q8AV58, Q8AXZ4, Q8CIY2, Q8HZK2, Q8HZK3, Q8NDA2, Q8R4K8, Q8TE57, Q91WP0
Diamond homologs: F1MMS9, P05555, P17852, P23229, P26006, P26007, P80108, P80109, Q13683, Q61738, Q61739, Q62470, Q63258, Q8R2H5, A2ARA8, O70362, O75578, P08514, P08648, P11688, P12080, P20701, P26009, P34446, P38570, P53708, Q00651, Q06274, Q13797, Q24247, Q27977, Q60677, Q91687, Q9QUM0, Q9W1M8, P13612, P06756, P43406, P80746, Q03600
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| TGFB1 | “down-regulates quantity by repression” | ITGA3 | “transcriptional regulation” |
| IL1B | “down-regulates quantity by repression” | ITGA3 | “transcriptional regulation” |
| ITGA3 | “form complex” | “A3/b1 integrin” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 69 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Signaling by Receptor Tyrosine Kinases | 7 | 8.4× | 2e-03 |
| Axon guidance | 7 | 7.3× | 3e-03 |
| Nervous system development | 7 | 7.0× | 3e-03 |
| Infectious disease | 9 | 5.2× | 3e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
625 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 5 |
| Likely pathogenic | 22 |
| Uncertain significance | 264 |
| Likely benign | 196 |
| Benign | 62 |
Top pathogenic / likely-pathogenic (27)
| Variant ID | HGVS | Classification |
|---|---|---|
| 209163 | NM_002204.4(ITGA3):c.2070+1G>A | Pathogenic |
| 35570 | NM_002204.4(ITGA3):c.1173_1174del (p.Pro392fs) | Pathogenic |
| 35571 | NM_002204.4(ITGA3):c.1538-1G>A | Pathogenic |
| 3675073 | NM_002204.4(ITGA3):c.1528C>T (p.Arg510Ter) | Pathogenic |
| 4535843 | NM_002204.4(ITGA3):c.2577_2583+13del | Pathogenic |
| 1344695 | NM_002204.4(ITGA3):c.2593del (p.Asp865fs) | Likely pathogenic |
| 208455 | NM_002204.4(ITGA3):c.1387C>T (p.Arg463Trp) | Likely pathogenic |
| 2631652 | NM_002204.4(ITGA3):c.826C>T (p.Arg276Ter) | Likely pathogenic |
| 2633774 | NM_002204.4(ITGA3):c.2794C>T (p.Arg932Ter) | Likely pathogenic |
| 2781185 | NM_002204.4(ITGA3):c.2219+1G>A | Likely pathogenic |
| 2869441 | NM_002204.4(ITGA3):c.1469+2T>A | Likely pathogenic |
| 3067864 | NM_002204.4(ITGA3):c.*32-1G>C | Likely pathogenic |
| 3349940 | NM_002204.4(ITGA3):c.2692del (p.Ser898fs) | Likely pathogenic |
| 3358856 | NM_002204.4(ITGA3):c.821G>A (p.Arg274Gln) | Likely pathogenic |
| 3382048 | NM_002204.4(ITGA3):c.2685dup (p.Ala896fs) | Likely pathogenic |
| 3382049 | NM_002204.4(ITGA3):c.1133A>T (p.Asp378Val) | Likely pathogenic |
| 3582231 | NM_002204.4(ITGA3):c.446G>A (p.Trp149Ter) | Likely pathogenic |
| 3582234 | NM_002204.4(ITGA3):c.493C>T (p.Arg165Ter) | Likely pathogenic |
| 3582237 | NM_002204.4(ITGA3):c.665-1G>A | Likely pathogenic |
| 3582279 | NM_002204.4(ITGA3):c.2261_2264dup (p.Val756fs) | Likely pathogenic |
| 3582280 | NM_002204.4(ITGA3):c.2299del | Likely pathogenic |
| 3582284 | NM_002204.4(ITGA3):c.2401-11_2409del | Likely pathogenic |
| 3582292 | NM_002204.4(ITGA3):c.2641G>T (p.Gly881Ter) | Likely pathogenic |
| 817532 | NM_002204.4(ITGA3):c.2623C>T (p.Arg875Ter) | Likely pathogenic |
| 818042 | NM_002204.4(ITGA3):c.864_867del (p.Gly289fs) | Likely pathogenic |
| 995569 | NM_002204.4(ITGA3):c.1621G>C (p.Gly541Arg) | Likely pathogenic |
| 996793 | NM_002204.4(ITGA3):c.1912A>T (p.Lys638Ter) | Likely pathogenic |
SpliceAI
3697 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:50056641:TACCT:T | donor_gain | 1.0000 |
| 17:50056642:ACCT:A | donor_gain | 1.0000 |
| 17:50056643:CCT:C | donor_gain | 1.0000 |
| 17:50056644:CT:C | donor_gain | 1.0000 |
| 17:50056644:CTGTA:C | donor_loss | 1.0000 |
| 17:50056646:G:GG | donor_gain | 1.0000 |
| 17:50056646:GTAA:G | donor_loss | 1.0000 |
| 17:50064198:G:GG | donor_gain | 1.0000 |
| 17:50064205:G:GG | donor_gain | 1.0000 |
| 17:50068302:A:T | donor_gain | 1.0000 |
| 17:50068302:AAAGG:A | donor_loss | 1.0000 |
| 17:50068303:AAGG:A | donor_loss | 1.0000 |
| 17:50068304:AG:A | donor_loss | 1.0000 |
| 17:50068305:GGTGG:G | donor_loss | 1.0000 |
| 17:50068306:GTG:G | donor_loss | 1.0000 |
| 17:50070831:A:AG | acceptor_gain | 1.0000 |
| 17:50070832:A:G | acceptor_gain | 1.0000 |
| 17:50070833:T:G | acceptor_gain | 1.0000 |
| 17:50070837:T:TA | acceptor_gain | 1.0000 |
| 17:50070839:T:TA | acceptor_gain | 1.0000 |
| 17:50070927:ATTGG:A | donor_loss | 1.0000 |
| 17:50070928:TTGGT:T | donor_loss | 1.0000 |
| 17:50070929:TG:T | donor_gain | 1.0000 |
| 17:50070929:TGG:T | donor_loss | 1.0000 |
| 17:50070930:GG:G | donor_gain | 1.0000 |
| 17:50070930:GGT:G | donor_loss | 1.0000 |
| 17:50070931:G:A | donor_loss | 1.0000 |
| 17:50070931:G:GG | donor_gain | 1.0000 |
| 17:50070932:T:A | donor_loss | 1.0000 |
| 17:50071983:TAGGT:T | acceptor_loss | 1.0000 |
AlphaMissense
6822 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:50068061:T:G | C140W | 0.999 |
| 17:50068125:T:A | C162S | 0.999 |
| 17:50068125:T:C | C162R | 0.999 |
| 17:50068126:G:C | C162S | 0.999 |
| 17:50068194:T:A | C185S | 0.999 |
| 17:50068195:G:C | C185S | 0.999 |
| 17:50076591:T:G | F611C | 0.999 |
| 17:50079133:T:A | W820R | 0.999 |
| 17:50079133:T:C | W820R | 0.999 |
| 17:50068059:T:C | C140R | 0.998 |
| 17:50068060:G:A | C140Y | 0.998 |
| 17:50068069:G:C | R143P | 0.998 |
| 17:50068119:G:T | G160C | 0.998 |
| 17:50068120:G:T | G160V | 0.998 |
| 17:50068127:C:G | C162W | 0.998 |
| 17:50068230:T:C | C197R | 0.998 |
| 17:50068232:C:G | C197W | 0.998 |
| 17:50068301:G:C | W220C | 0.998 |
| 17:50068301:G:T | W220C | 0.998 |
| 17:50070844:G:T | G222V | 0.998 |
| 17:50076620:T:A | C621S | 0.998 |
| 17:50076621:G:C | C621S | 0.998 |
| 17:50064135:G:T | G89C | 0.997 |
| 17:50064150:T:A | C94S | 0.997 |
| 17:50064151:G:C | C94S | 0.997 |
| 17:50068120:G:A | G160D | 0.997 |
| 17:50068126:G:A | C162Y | 0.997 |
| 17:50068172:G:C | W177C | 0.997 |
| 17:50068172:G:T | W177C | 0.997 |
| 17:50068196:C:G | C185W | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000060536 (17:50056398 C>T), RS1000105828 (17:50082097 C>T), RS1000288108 (17:50062455 C>A,T), RS1000304676 (17:50063464 C>T), RS1000541321 (17:50056738 C>A,G,T), RS1000563888 (17:50087277 G>T), RS1000623791 (17:50061140 C>G,T), RS1000678353 (17:50086979 G>A), RS1000803746 (17:50056468 G>A,C), RS1001042287 (17:50085332 A>T), RS1001060497 (17:50080652 C>T), RS1001155779 (17:50079118 G>C), RS1001196168 (17:50066963 C>T), RS1001242796 (17:50055944 A>G), RS1001292766 (17:50079455 A>G)
Disease associations
OMIM: gene MIM:605025 | disease phenotypes: MIM:614748
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | Definitive | Autosomal recessive |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | Definitive | AR |
Mondo (7): epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome (MONDO:0013881), anemia (MONDO:0002280), phimosis (MONDO:0006904), penoscrotal transposition (MONDO:0017285), bronchopulmonary dysplasia (MONDO:0019091), respiratory failure (MONDO:0021113), nephrotic syndrome (MONDO:0005377)
Orphanet (3): Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome (Orphanet:306504), Penoscrotal transposition (Orphanet:2842), Bronchopulmonary dysplasia (Orphanet:70589)
HPO phenotypes
35 total (30 of 35 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000083 | Renal insufficiency |
| HP:0000092 | Renal tubular atrophy |
| HP:0000093 | Proteinuria |
| HP:0000097 | Focal segmental glomerulosclerosis |
| HP:0000100 | Nephrotic syndrome |
| HP:0000160 | Narrow mouth |
| HP:0000252 | Microcephaly |
| HP:0000311 | Round face |
| HP:0000316 | Hypertelorism |
| HP:0000400 | Macrotia |
| HP:0000448 | Prominent nose |
| HP:0000653 | Sparse eyelashes |
| HP:0000771 | Gynecomastia |
| HP:0000774 | Narrow chest |
| HP:0001030 | Fragile skin |
| HP:0001252 | Hypotonia |
| HP:0001806 | Onycholysis |
| HP:0002098 | Respiratory distress |
| HP:0002205 | Recurrent respiratory infections |
| HP:0002209 | Sparse scalp hair |
| HP:0002213 | Fine hair |
| HP:0002643 | Neonatal respiratory distress |
| HP:0003073 | Hypoalbuminemia |
| HP:0003577 | Congenital onset |
| HP:0003593 | Infantile onset |
| HP:0003623 | Neonatal onset |
| HP:0005972 | Respiratory acidosis |
| HP:0006530 | Abnormal pulmonary interstitial morphology |
| HP:0008066 | Abnormal blistering of the skin |
GWAS associations
0 associations (top):
MeSH disease descriptors (6)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D000740 | Anemia | C15.378.050 |
| D001997 | Bronchopulmonary Dysplasia | C08.381.520.750.500; C16.614.521.125 |
| D009404 | Nephrotic Syndrome | C12.050.351.968.419.630.643; C12.200.777.419.630.643; C12.950.419.630.643 |
| D010688 | Phimosis | C12.100.500.494.684; C12.200.294.494.684 |
| D012131 | Respiratory Insufficiency | C08.618.846 |
| C536650 | Penoscrotal transposition (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL3525 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: catalytic receptor — Integrins
Most potent curated ligand interactions (1 total), top 1:
| Ligand | Action | Affinity | Parameter |
|---|---|---|---|
| peptide ligand 2 [PMID: 19055415] | Binding | 7.24 | pIC50 |
ChEMBL bioactivities
8 potent at pChembl≥5 of 8 total, top 8 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.24 | IC50 | 57 | nM | CHEMBL2372225 |
| 7.17 | IC50 | 68 | nM | CHEMBL2372227 |
| 6.72 | IC50 | 190 | nM | CHEMBL2372226 |
| 6.66 | IC50 | 220 | nM | CHEMBL2372228 |
| 6.54 | IC50 | 290 | nM | CHEMBL510395 |
| 6.47 | IC50 | 340 | nM | CHEMBL2372229 |
| 6.40 | Kd | 400 | nM | CHEMBL2372224 |
| 6.26 | IC50 | 550 | nM | CHEMBL2372224 |
PubChem BioAssay actives
8 with measured affinity, of 12 total; 7 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 2-[(6S,12R,15R,20R,23S,26S,28R)-15-amino-23-(2-amino-2-oxoethyl)-20-carbamoyl-28-hydroxy-6-[(4-hydroxy-3-nitrophenyl)methyl]-2,5,8,11,14,22,25-heptaoxo-17,18-dithia-1,4,7,10,13,21,24-heptazabicyclo[24.3.0]nonacosan-12-yl]acetic acid | 411719: Binding affinity to integrin alpha3 expressed in human MDA-MB-231 cells by flow cytometry | ic50 | 0.0570 | uM |
| 2-[(6S,12R,15R,20R,23S,26S,28R)-15-amino-20-carbamoyl-28-hydroxy-23-[(1R)-1-hydroxyethyl]-6-[(4-hydroxy-3-nitrophenyl)methyl]-2,5,8,11,14,22,25-heptaoxo-17,18-dithia-1,4,7,10,13,21,24-heptazabicyclo[24.3.0]nonacosan-12-yl]acetic acid | 411719: Binding affinity to integrin alpha3 expressed in human MDA-MB-231 cells by flow cytometry | ic50 | 0.0680 | uM |
| 2-[(6S,12R,15R,20R,23S,26S,28R)-15-amino-20-carbamoyl-28-hydroxy-23-(2-hydroxyethyl)-6-[(4-hydroxy-3-nitrophenyl)methyl]-2,5,8,11,14,22,25-heptaoxo-17,18-dithia-1,4,7,10,13,21,24-heptazabicyclo[24.3.0]nonacosan-12-yl]acetic acid | 411719: Binding affinity to integrin alpha3 expressed in human MDA-MB-231 cells by flow cytometry | ic50 | 0.1900 | uM |
| 2-[(6S,12R,15R,20R,23S,26S,28R)-15-amino-20-carbamoyl-6-[(3-chlorophenyl)methyl]-28-hydroxy-23-[(1R)-1-hydroxyethyl]-2,5,8,11,14,22,25-heptaoxo-17,18-dithia-1,4,7,10,13,21,24-heptazabicyclo[24.3.0]nonacosan-12-yl]acetic acid | 411719: Binding affinity to integrin alpha3 expressed in human MDA-MB-231 cells by flow cytometry | ic50 | 0.2200 | uM |
| 2-[(6S,12R,15R,20R,23S,26S)-15-amino-20-carbamoyl-6-(cyclohexylmethyl)-23-methyl-2,5,8,11,14,22,25-heptaoxo-17,18-dithia-1,4,7,10,13,21,24-heptazabicyclo[24.3.0]nonacosan-12-yl]acetic acid | 411719: Binding affinity to integrin alpha3 expressed in human MDA-MB-231 cells by flow cytometry | ic50 | 0.2900 | uM |
| 2-[(6S,12R,15R,20R,23S,26S,28R)-15-amino-20-carbamoyl-6-(cyclohexylmethyl)-28-hydroxy-2,5,8,11,14,22,25-heptaoxo-23-(2-phenylethyl)-17,18-dithia-1,4,7,10,13,21,24-heptazabicyclo[24.3.0]nonacosan-12-yl]acetic acid | 411719: Binding affinity to integrin alpha3 expressed in human MDA-MB-231 cells by flow cytometry | ic50 | 0.3400 | uM |
| 2-[(6S,12R,15R,20R,23S,26S,28R)-15-amino-23-(2-amino-2-oxoethyl)-20-carbamoyl-28-hydroxy-6-(2-methylpropyl)-2,5,8,11,14,22,25-heptaoxo-17,18-dithia-1,4,7,10,13,21,24-heptazabicyclo[24.3.0]nonacosan-12-yl]acetic acid | 411712: Binding affinity to integrin alpha3beta1 expressed in human MDA-MB-231 cells by flow cytometry | kd | 0.4000 | uM |
CTD chemical–gene interactions
103 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tobacco Smoke Pollution | affects expression, decreases expression, increases expression | 4 |
| Aflatoxin B1 | affects expression, decreases methylation, increases expression | 4 |
| Benzo(a)pyrene | decreases expression, increases expression, increases methylation | 3 |
| Cisplatin | affects expression, increases expression | 3 |
| Copper | affects binding, decreases expression, increases expression | 3 |
| manganese chloride | increases expression, affects cotreatment, decreases expression, increases abundance | 2 |
| Troglitazone | increases expression | 2 |
| Acetaminophen | increases expression | 2 |
| Air Pollutants | increases expression, affects cotreatment, decreases expression, increases abundance | 2 |
| Cadmium | increases expression, affects binding, increases activity, increases reaction | 2 |
| Calcitriol | increases expression, affects cotreatment | 2 |
| Estradiol | increases expression, affects cotreatment | 2 |
| Lipopolysaccharides | affects expression, affects response to substance, affects cotreatment, decreases expression | 2 |
| Manganese | increases expression, affects cotreatment, decreases expression, increases abundance | 2 |
| Ozone | affects cotreatment, decreases expression, increases abundance, increases expression, increases oxidation | 2 |
| Cyclosporine | increases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, decreases expression, increases abundance | 1 |
| propionaldehyde | increases expression | 1 |
| bisphenol A | affects cotreatment, decreases expression | 1 |
| lead acetate | increases expression | 1 |
| methylselenic acid | increases expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, affects localization, increases expression | 1 |
| ethyl-p-hydroxybenzoate | increases expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| dimethylselenide | increases expression, increases oxidation, decreases expression | 1 |
| beta-lapachone | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | decreases expression, increases abundance, affects cotreatment | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
ChEMBL screening assays
5 unique, capped per target: 5 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL1012891 | Binding | Binding affinity to integrin alpha3 expressed in human MDA-MB-231 cells at 15 mins by flow cytometry in presence of 0.5 ug/mL anti-integrin alpha3 antibody | Discovery of targeting ligands for breast cancer cells using the one-bead one-compound combinatorial method. — J Med Chem |
Cellosaurus cell lines
6 cell lines: 6 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D1X0 | Abcam A-549 ITGA3 KO | Cancer cell line | Male |
| CVCL_D2BB | Abcam HCT 116 ITGA3 KO | Cancer cell line | Male |
| CVCL_D7SL | Ubigene A-549 ITGA3 KO | Cancer cell line | Male |
| CVCL_E0FG | Ubigene HeLa ITGA3 KO | Cancer cell line | Female |
| CVCL_ST25 | HAP1 ITGA3 (-) 1 | Cancer cell line | Male |
| CVCL_ST26 | HAP1 ITGA3 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00003398 | PHASE4 | COMPLETED | Bone Marrow Transplantation in Treating Patients With Hematologic Cancer |
| NCT00022386 | PHASE4 | COMPLETED | Epoetin Alfa in Treating Chemotherapy-Related Anemia in Women With Stage I, Stage II, or Stage III Breast Cancer |
| NCT00046969 | PHASE4 | COMPLETED | Epoetin Beta in Treating Anemia in Patients With Cervical Cancer |
| NCT00111995 | PHASE4 | COMPLETED | Evaluating Aranesp® for the Treatment of Anemia in African-American Subjects With Chronic Renal Failure (CRF) Receiving Hemodialysis |
| NCT00117039 | PHASE4 | COMPLETED | A Study to Evaluate the Effectiveness of Aranesp® for Cancer Patients With Anemia |
| NCT00117065 | PHASE4 | COMPLETED | Study of Transplant Related Anemia Treated With Aranesp® (STRATA) |
| NCT00117117 | PHASE4 | COMPLETED | A Study to Assess Symptom Burden in Subjects With Nonmyeloid Malignancies Receiving Chemotherapy and Aranesp® |
| NCT00126334 | PHASE4 | COMPLETED | Conservative Versus Liberal Red Cell Transfusion in Myocardial Infarction Trial: The CRIT Pilot |
| NCT00153868 | PHASE4 | COMPLETED | A Web-based Study of Quality of Life Benefits Associated Aranesp in Anemic Patients With Cancer |
| NCT00168948 | PHASE4 | UNKNOWN | Intermittent Antimalaria Treatment With SP in African Children |
| NCT00173706 | PHASE4 | UNKNOWN | Evaluation of the Effects of L-Carnitine Injection in Patients Undergoing Hemodialysis |
| NCT00194857 | PHASE4 | TERMINATED | Treatment of Anemia and Neutropenia in HIV/HCV Coinfected Patients Treated With Pegylated Interferon and Ribavirin |
| NCT00204334 | PHASE4 | COMPLETED | Effects of Anemia Correction on Vascular and Monocyte Function in Renal Transplant Recipients |
| NCT00206739 | PHASE4 | COMPLETED | Intermittent Treatment With Sulfadoxine-pyrimethamine for Malaria Control in Infants |
| NCT00211120 | PHASE4 | TERMINATED | Correction of Hemoglobin and Outcomes in Renal Insufficiency (CHOIR) |
| NCT00216541 | PHASE4 | COMPLETED | A Study of the Safety and Effectiveness of Epoetin Alfa on Hemoglobin Levels and Blood Transfusions in Cancer Patients Receiving Chemotherapy |
| NCT00223938 | PHASE4 | TERMINATED | Study of the Efficacy and Safety of Ferrlecit in the Maintenance Dosing in Hemodialysis Patients. |
| NCT00223964 | PHASE4 | COMPLETED | Study of the Efficacy of Two Doses of Ferrlecit in the Treatment of Iron Deficiency in Pediatric Hemodialysis Patients |
| NCT00224003 | PHASE4 | COMPLETED | Study of the Safety and Efficacy of Ferrlecit® Maintenance Dosing in Pediatric Hemodialysis Patients |
| NCT00224068 | PHASE4 | COMPLETED | Effect of Iron Therapy as an Adjunct to Epoetin Alfa in the Anemia of Cancer Chemotherapy |
| NCT00239642 | PHASE4 | COMPLETED | Safety and Efficacy of Iron Sucrose in Children |
| NCT00247507 | PHASE4 | UNKNOWN | The Effects of Acetylcysteine on Alleviating Damage of Oxidative Stress in Hemodialysis Patients |
| NCT00248716 | PHASE4 | UNKNOWN | Treatment of Anemia in the 2nd Year of Life. Comparison of the Efficacy of Two Different Iron Preparations. |
| NCT00283465 | PHASE4 | COMPLETED | A Study of the Effectiveness and Safety of Treatment With Epoetin Alfa on Hemoglobin Levels, Red Blood Cell Transfusions, and Quality of Life in Patients With Cancer Receiving Platinum-containing Chemotherapy |
| NCT00312871 | PHASE4 | TERMINATED | Effects of Early Correction of Anemia in Patients With Chronic Renal Insufficiency |
| NCT00315484 | PHASE4 | COMPLETED | Hematologic Response of Epoetin Alfa (PROCRIT) Versus Darbepoetin Alfa (ARANESP) in Chemotherapy Induced Anemia |
| NCT00317902 | PHASE4 | COMPLETED | An Open-Label Study to Evaluate the Effect of Every Other Week PROCRIT� (Epoetin Alfa) Dosing (40,000-60,000 Units) On Maintaining Quality of Life and Target Hemoglobin Levels in Anemic HIV-Infected Patients (CHAMPS II) |
| NCT00335023 | PHASE4 | COMPLETED | Well Being of Obstetric Patients on Minimal Blood Transfusions |
| NCT00338468 | PHASE4 | TERMINATED | A Study to Assess Disability in Anemic Elderly Patients With Kidney Disease Receiving PROCRIT (Epoetin Alfa) |
| NCT00377481 | PHASE4 | COMPLETED | COMFORT Study: A Crossover Study of NeoRecormon (Epoetin Beta) and Darbepoetin Alfa in Patients With Renal Anemia. |
| NCT00396435 | PHASE4 | COMPLETED | Correction of Anaemia and Progression of Renal Failure on Transplanted Patients |
| NCT00401869 | PHASE4 | COMPLETED | The Effect of PROCRIT (Epoetin Alfa) on Postoperative Vigor and Handgrip Strength (VIGOR Study) |
| NCT00413101 | PHASE4 | COMPLETED | A Study of NeoRecormon (Epoetin Beta) in Patients With End Stage Renal Disease. |
| NCT00431496 | PHASE4 | COMPLETED | A Study of Cinacalcet to Improve Achievement of National Kidney Foundation Kidney Disease Outcomes Quality Initiative (K/DOQI) Targets in Patients With End Stage Renal Disease (ESRD) |
| NCT00437723 | PHASE4 | COMPLETED | A Study of NeoRecormon in Patients With Chronic Kidney Disease. |
| NCT00440063 | PHASE4 | TERMINATED | A Study of NeoRecormon (Epoetin Beta) in Patients With Renal Anemia. |
| NCT00470158 | PHASE4 | COMPLETED | Delivery of Iron and Zinc Supplements: Evaluation of Interaction Effect on Biochemical and Clinical Outcomes |
| NCT00479102 | PHASE4 | UNKNOWN | Prevention of Iron Deficiency in 2nd Year of Life |
| NCT00495365 | PHASE4 | TERMINATED | A Dose Conversion Study of Epoetin Alfa in Subjects With the Anemia of Chronic Kidney Disease. |
| NCT00495378 | PHASE4 | TERMINATED | RAPID-2. A Study to Evaluate the Effectiveness of Alternate Dosing of PROCRIT (Epoetin Alfa) in Maintaining Hemoglobin Levels in Patients With Chemotherapy Related Anemia |
Related Atlas pages
- Associated diseases: epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): anemia, bronchopulmonary dysplasia, epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome, nephrotic syndrome, penoscrotal transposition, phimosis, respiratory failure