ITGA11
gene geneOn this page
Also known as HsT18964
Summary
ITGA11 (integrin subunit alpha 11, HGNC:6136) is a protein-coding gene on chromosome 15q23, encoding Integrin alpha-11 (Q9UKX5). Integrin alpha-11/beta-1 is a receptor for collagen.
This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein contains an I domain, is expressed in muscle tissue, dimerizes with beta 1 integrin in vitro, and appears to bind collagen in this form. Therefore, the protein may be involved in attaching muscle tissue to the extracellular matrix. Alternative transcriptional splice variants have been found for this gene, but their biological validity is not determined.
Source: NCBI Gene 22801 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 233 total
- Druggable target: yes
- MANE Select transcript:
NM_001004439
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6136 |
| Approved symbol | ITGA11 |
| Name | integrin subunit alpha 11 |
| Location | 15q23 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HsT18964 |
| Ensembl gene | ENSG00000137809 |
| Ensembl biotype | protein_coding |
| OMIM | 604789 |
| Entrez | 22801 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 4 protein_coding, 3 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000315757, ENST00000423218, ENST00000562826, ENST00000565868, ENST00000566429, ENST00000568677, ENST00000569346, ENST00000902076, ENST00000902077
RefSeq mRNA: 1 — MANE Select: NM_001004439
NM_001004439
CCDS: CCDS45291
Canonical transcript exons
ENST00000315757 — 30 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000931668 | 68350617 | 68350782 |
| ENSE00000931669 | 68351258 | 68351402 |
| ENSE00000942594 | 68335697 | 68335845 |
| ENSE00000942597 | 68330981 | 68331111 |
| ENSE00000942598 | 68328096 | 68328262 |
| ENSE00000942599 | 68326654 | 68326796 |
| ENSE00000942600 | 68325131 | 68325241 |
| ENSE00000942601 | 68321418 | 68321503 |
| ENSE00000942602 | 68320185 | 68320392 |
| ENSE00000942603 | 68317265 | 68317363 |
| ENSE00000942604 | 68315651 | 68315727 |
| ENSE00000942605 | 68313779 | 68313868 |
| ENSE00000942606 | 68312773 | 68312863 |
| ENSE00000942607 | 68311290 | 68311403 |
| ENSE00000942608 | 68310994 | 68311080 |
| ENSE00000942609 | 68307586 | 68307696 |
| ENSE00000942610 | 68307348 | 68307443 |
| ENSE00000942611 | 68303772 | 68303885 |
| ENSE00001027007 | 68369184 | 68369284 |
| ENSE00001291516 | 68296532 | 68303130 |
| ENSE00001297847 | 68402918 | 68403029 |
| ENSE00002519031 | 68348830 | 68348900 |
| ENSE00003465113 | 68332338 | 68332478 |
| ENSE00003480261 | 68357151 | 68357299 |
| ENSE00003504022 | 68358458 | 68358585 |
| ENSE00003515460 | 68364707 | 68364798 |
| ENSE00003669827 | 68331859 | 68332062 |
| ENSE00003672575 | 68361590 | 68361704 |
| ENSE00003689623 | 68339500 | 68339644 |
| ENSE00003847613 | 68432015 | 68432163 |
Expression profiles
Bgee: expression breadth ubiquitous, 180 present calls, max score 96.89.
FANTOM5 (CAGE): breadth broad, TPM avg 25.4645 / max 1405.8718, expressed in 897 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 150661 | 22.1133 | 856 |
| 150662 | 1.8502 | 504 |
| 150663 | 1.0414 | 349 |
| 150653 | 0.3215 | 150 |
| 150651 | 0.1381 | 63 |
Top tissues by expression
248 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| descending thoracic aorta | UBERON:0002345 | 96.89 | gold quality |
| thoracic aorta | UBERON:0001515 | 96.32 | gold quality |
| ascending aorta | UBERON:0001496 | 96.23 | gold quality |
| calcaneal tendon | UBERON:0003701 | 92.56 | gold quality |
| stromal cell of endometrium | CL:0002255 | 91.38 | gold quality |
| body of uterus | UBERON:0009853 | 91.23 | gold quality |
| aorta | UBERON:0000947 | 91.02 | gold quality |
| right coronary artery | UBERON:0001625 | 90.34 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 89.53 | gold quality |
| myometrium | UBERON:0001296 | 88.15 | gold quality |
| tendon | UBERON:0000043 | 87.34 | gold quality |
| left coronary artery | UBERON:0001626 | 87.21 | gold quality |
| popliteal artery | UBERON:0002250 | 87.12 | gold quality |
| coronary artery | UBERON:0001621 | 87.10 | gold quality |
| tibial artery | UBERON:0007610 | 87.06 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 86.78 | gold quality |
| upper arm skin | UBERON:0004263 | 85.56 | gold quality |
| kidney epithelium | UBERON:0004819 | 85.16 | gold quality |
| endocervix | UBERON:0000458 | 84.55 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 84.35 | gold quality |
| tibia | UBERON:0000979 | 83.20 | gold quality |
| cardiac atrium | UBERON:0002081 | 83.17 | gold quality |
| right atrium auricular region | UBERON:0006631 | 83.08 | gold quality |
| uterine cervix | UBERON:0000002 | 81.59 | gold quality |
| left uterine tube | UBERON:0001303 | 81.38 | gold quality |
| heart | UBERON:0000948 | 81.01 | gold quality |
| sperm | CL:0000019 | 81.00 | gold quality |
| ectocervix | UBERON:0012249 | 80.03 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 79.85 | gold quality |
| heart left ventricle | UBERON:0002084 | 79.58 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7037 | yes | 888.08 |
| E-ANND-3 | yes | 10.10 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): ITGB8, SMAD2, SMAD3, SP1, SP3
Literature-anchored findings (GeneRIF, showing 26)
- Major transcription start site mapped. A core promoter [nt (-)127-(+)25], a potential silencer region [nt (-)400-(-)127] and a potential enhancer region [nt (-)1519-(-)400] identified as important for alpha11 transcription in mesenchymal cells. (PMID:12392762)
- the GFOGER sequence in fibrillar collagens is a common recognition motif used by integrins, particularly alpha11beta1 (PMID:12496264)
- A new interferon stimulated gene. (Integrin alpha 11) (PMID:16697656)
- Through interaction between matrix collagen and stromal fibroblasts, integrin alpha 11 stimulates cancer cell growth. (PMID:17600088)
- analysis of a prokaryotic Scl1 collagen sequence motif that mediates binding to human collagen receptors, integrins alpha2beta1 and alpha11beta1 (PMID:18990704)
- is a major collagen receptor on human periodontal ligament cells [and plays] a role in collagen lattice remodeling [ITGA11B1] (PMID:19641149)
- Data show that the 3 kb alpha11 promoter contains most of the regulatory elements that direct ectomesenchymal and mesodermal fibroblast-specific expression. (PMID:19913614)
- The disturbance of alpha11beta1 mediated interactions to collagen I results in a tremendous reduction of hMSC numbers owing to mitochondrial leakage accompanied by Bcl-2-associated X protein upregulation. (PMID:21796158)
- Interactions between alpha11 integrins and the Smad-dependent TGF-beta2 signalling may contribute to the formation of pro-fibrotic myofibroblasts and the development of a fibrotic interstitium in diabetic cardiomyopathy. (PMID:22869616)
- Myometrium and uterine fibroids express ITGA11. (PMID:24520080)
- glycated collagen in the cardiac interstitium triggers an autocrine TGF-beta2 signaling pathway that stimulates alpha11 integrin expression through Smad2/3 binding elements in the alpha11 integrin promoter (PMID:24962729)
- FGF2 may be redirecting fibroblasts towards an anti-fibrotic phenotype during wound healing by overriding TGFb1 mediated ITGA11 expression. (PMID:26403263)
- Using MDR and RF, the overall best classifier of lung cancer status were SNPs rs1799732 (DRD2), rs5744256 (IL-18), rs2306022 (ITGA11) with training accuracy of 0.6592 and a testing accuracy of 0.6572 and a cross-validation consistency of 10/10 with permutation testing P<0.0001 (PMID:27121382)
- ITGA11 is a highly promising target that is selectively overexpressed in myofibroblasts during fibrotic diseases and regulates myofibroblast differentiation and key phenotypic characteristics. (PMID:29147013)
- By employing co-immunoprecipitation and confocal microscopy analysis we showed that integrin alpha11beta1 and protein disulfide isomerase (PDI) create complexes bounded by disulfide bonds. Using surface plasmon resonance we provide biochemical evidence that PDI can interact directly with integrin subunit alpha11. (PMID:29203246)
- Data show that integrin alpha-11 (integrin alpha11) is a physiologically important receptor for Osteolectin, mediating its effect on osteogenesis. (PMID:30632962)
- this study presents ITGA11 as an interesting stromal therapeutic target that plays a crucial role in the regulation of the differentiation of Pancreatic stellate cells into cancer-associated fibroblasts and paracrine effects. (PMID:30808244)
- integrin alpha11 pro-invasive activity relies on its ability to interact with PDGFRbeta in a ligand-dependent manner and to promote its downstream JNK activation, leading to the production of tenascin C, a pro-invasive matricellular protein. (PMID:31287804)
- Integrin alpha11 cytoplasmic tail is required for FAK activation to initiate 3D cell invasion and ERK-mediated cell proliferation. (PMID:31653900)
- ITGA11 expression may be a predictor of poor prognosis in patients with surgically resected NSCLC. (PMID:31778288)
- p75NTR optimizes the osteogenic potential of human periodontal ligament stem cells by up-regulating alpha1 integrin expression. (PMID:32424966)
- Long noncoding RNA FEZF1AS1 facilitates nonsmall cell lung cancer progression via the ITGA11/miR516b5p axis. (PMID:33174014)
- Cancer-associated fibroblast migration in non-small cell lung cancers is modulated by increased integrin alpha11 expression. (PMID:33682233)
- Inhibition of integrin subunit alpha 11 restrains gastric cancer progression through phosphatidylinositol 3-kinase/Akt pathway. (PMID:34802381)
- Osteosarcoma Cells Secrete CXCL14 That Activates Integrin alpha11beta1 on Fibroblasts to Form a Lung Metastatic Niche. (PMID:38295227)
- PDGFRalpha[+]ITGA11[+] fibroblasts foster early-stage cancer lymphovascular invasion and lymphatic metastasis via ITGA11-SELE interplay. (PMID:38428409)
Cross-species orthologs
9 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | itga11b | ENSDARG00000007950 |
| danio_rerio | itga11a | ENSDARG00000036086 |
| mus_musculus | Itga11 | ENSMUSG00000032243 |
| rattus_norvegicus | Itga11 | ENSRNOG00000006723 |
| drosophila_melanogaster | if | FBGN0001250 |
| drosophila_melanogaster | ItgaPS4 | FBGN0034005 |
| drosophila_melanogaster | ItgaPS5 | FBGN0034880 |
| drosophila_melanogaster | scb | FBGN0286785 |
| caenorhabditis_elegans | WBGENE00003929 |
Paralogs (17): ITGAL (ENSG00000005844), ITGA3 (ENSG00000005884), ITGA2B (ENSG00000005961), ITGA8 (ENSG00000077943), ITGAE (ENSG00000083457), ITGA6 (ENSG00000091409), ITGA4 (ENSG00000115232), ITGA7 (ENSG00000135424), ITGAV (ENSG00000138448), ITGAX (ENSG00000140678), ITGA10 (ENSG00000143127), ITGA9 (ENSG00000144668), ITGAD (ENSG00000156886), ITGA5 (ENSG00000161638), ITGA2 (ENSG00000164171), ITGAM (ENSG00000169896), ITGA1 (ENSG00000213949)
Protein
Protein identifiers
Integrin alpha-11 — Q9UKX5 (reviewed: Q9UKX5)
All UniProt accessions (1): Q9UKX5
UniProt curated annotations — full annotation on UniProt →
Function. Integrin alpha-11/beta-1 is a receptor for collagen.
Subunit / interactions. Heterodimer of an alpha and a beta subunit. Alpha-11 associates with beta-1. Interacts with RAB21.
Subcellular location. Membrane.
Tissue specificity. According to PubMed:10464311, highest levels of expression in uterus and heart, intermediate levels in skeletal muscle and intermediate to low levels in pancreas, kidney and placenta. According to PubMed:10486209, also found in brain, colon, lung, small intestine, stomach, testis, salivary glands, thyroid glands and prostate. Very low levels in peripheral blood lymphocytes, fetal brain and fetal liver.
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.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9UKX5-1 | 1 | yes |
| Q9UKX5-2 | 2 |
RefSeq proteins (1): NP_001004439* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000413 | Integrin_alpha | Family |
| IPR002035 | VWF_A | Domain |
| IPR013517 | FG-GAP | Repeat |
| IPR013519 | Int_alpha_beta-p | Repeat |
| IPR013649 | Integrin_alpha_Ig-like_1 | Domain |
| IPR028994 | Integrin_alpha_N | Homologous_superfamily |
| IPR032695 | Integrin_dom_sf | Homologous_superfamily |
| IPR036465 | vWFA_dom_sf | Homologous_superfamily |
| IPR048285 | Integrin_alpha_Ig-like_2 | Domain |
Pfam: PF00092, PF01839, PF08441, PF20805
UniProt features (57 total): glycosylation site 16, binding site 12, repeat 7, disulfide bond 7, sequence variant 7, topological domain 2, signal peptide 1, chain 1, transmembrane region 1, splice variant 1, mutagenesis site 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UKX5-F1 | 85.13 | 0.47 |
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 (12): 488; 490; 492; 496; 551; 553; 555; 559; 613; 615; 617; 621
Disulfide bonds (7): 76–83, 121–139, 129–159, 659–668, 674–729, 781–787, 881–893
Glycosylation sites (16): 82, 95, 291, 331, 358, 449, 462, 528, 642, 694, 857, 894, 973, 1031, 1039, 1059
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 1170 | no effect on rab21-binding. |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-216083 | Integrin cell surface interactions |
| R-HSA-1474244 | Extracellular matrix organization |
MSigDB gene sets: 117 (showing top):
RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOCC_CELL_SURFACE, GOBP_OSTEOBLAST_DIFFERENTIATION, GOBP_CELL_CELL_ADHESION, CEBP_Q2, PID_CXCR4_PATHWAY, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, GOBP_OSSIFICATION, AFP1_Q6, WANG_CISPLATIN_RESPONSE_AND_XPC_DN, GOBP_SUBSTRATE_DEPENDENT_CELL_MIGRATION, chr15q23, GOBP_CELL_ADHESION_MEDIATED_BY_INTEGRIN, RGAGGAARY_PU1_Q6, GOBP_CELL_SUBSTRATE_ADHESION
GO Biological Process (9): osteoblast differentiation (GO:0001649), substrate-dependent cell migration (GO:0006929), cell adhesion (GO:0007155), cell-matrix adhesion (GO:0007160), integrin-mediated signaling pathway (GO:0007229), muscle organ development (GO:0007517), cell adhesion mediated by integrin (GO:0033627), collagen-activated signaling pathway (GO:0038065), cell-cell adhesion (GO:0098609)
GO Molecular Function (5): collagen binding (GO:0005518), signaling receptor activity (GO:0038023), collagen receptor activity (GO:0038064), metal ion binding (GO:0046872), collagen binding involved in cell-matrix adhesion (GO:0098639)
GO Cellular Component (6): plasma membrane (GO:0005886), focal adhesion (GO:0005925), integrin complex (GO:0008305), cell surface (GO:0009986), membrane (GO:0016020), integrin alpha11-beta1 complex (GO:0034681)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Extracellular matrix organization | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cell surface receptor signaling pathway | 2 |
| cell adhesion | 2 |
| collagen binding | 2 |
| cellular anatomical structure | 2 |
| ossification | 1 |
| cell differentiation | 1 |
| cell migration | 1 |
| cellular process | 1 |
| cell-substrate adhesion | 1 |
| animal organ development | 1 |
| muscle structure development | 1 |
| protein-containing complex binding | 1 |
| molecular transducer activity | 1 |
| transmembrane signaling receptor activity | 1 |
| collagen-activated signaling pathway | 1 |
| cation binding | 1 |
| cell-matrix adhesion | 1 |
| cell-matrix adhesion mediator activity | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cell-substrate junction | 1 |
| protein complex involved in cell adhesion | 1 |
| plasma membrane signaling receptor complex | 1 |
| integrin complex | 1 |
Protein interactions and networks
STRING
1040 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ITGA11 | CORO2B | Q9UQ03 | 834 |
| ITGA11 | TLE3 | Q04726 | 829 |
| ITGA11 | ITGB1 | P05556 | 797 |
| ITGA11 | COL1A2 | P02464 | 765 |
| ITGA11 | ITGB5 | P18084 | 699 |
| ITGA11 | KIF23 | Q02241 | 669 |
| ITGA11 | ITGB8 | P26012 | 658 |
| ITGA11 | ITGB3 | P05106 | 653 |
| ITGA11 | COL3A1 | P02461 | 643 |
| ITGA11 | COL5A1 | P20908 | 624 |
| ITGA11 | FN1 | P02751 | 606 |
| ITGA11 | COL6A1 | P12109 | 602 |
| ITGA11 | COL1A1 | P02452 | 597 |
| ITGA11 | PDGFRB | P09619 | 589 |
| ITGA11 | COL4A1 | P02462 | 588 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ITGA11 | Rab21 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ITGA11 | Fabp3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| IQCB1 | PCP4L1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (5): ITGA11 (Proximity Label-MS), ITGA11 (Cross-Linking-MS (XL-MS)), ITGA11 (Cross-Linking-MS (XL-MS)), ITGA11 (Affinity Capture-MS), ITGA11 (Affinity Capture-MS)
ESM2 similar proteins: A2ARA8, B0S5N4, B8JK39, F1MMS9, O08665, P05555, P06756, P08514, P08648, P11215, P11688, P13612, P17301, P17852, P18564, P20701, P23229, P24063, P26006, P26007, P26008, P26009, P38570, P43406, P53708, P53710, P53711, P61622, P61625, P80746, Q00651, Q06274, Q13683, Q13797, Q60677, Q61738, Q61739, Q62469, Q62470, Q63258
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
4 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SP1 | “up-regulates quantity by expression” | ITGA11 | |
| SP3 | “up-regulates quantity by expression” | ITGA11 | |
| ETS1 | “up-regulates quantity by expression” | ITGA11 | |
| ITGA11 | “form complex” | “A11/b1 integrin” | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
233 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 192 |
| Likely benign | 13 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4814 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:68307342:GCTCA:G | donor_loss | 1.0000 |
| 15:68307343:CTCAC:C | donor_loss | 1.0000 |
| 15:68307344:TCA:T | donor_loss | 1.0000 |
| 15:68307345:CACCT:C | donor_loss | 1.0000 |
| 15:68307439:TTGAG:T | acceptor_gain | 1.0000 |
| 15:68307440:TGAG:T | acceptor_gain | 1.0000 |
| 15:68307441:GAG:G | acceptor_gain | 1.0000 |
| 15:68307443:GCTGT:G | acceptor_loss | 1.0000 |
| 15:68307444:C:CC | acceptor_gain | 1.0000 |
| 15:68307446:G:C | acceptor_gain | 1.0000 |
| 15:68307446:G:GC | acceptor_gain | 1.0000 |
| 15:68307581:CTTA:C | donor_gain | 1.0000 |
| 15:68307582:TTA:T | donor_loss | 1.0000 |
| 15:68307583:TAC:T | donor_loss | 1.0000 |
| 15:68307584:A:AC | donor_gain | 1.0000 |
| 15:68307584:ACTG:A | donor_gain | 1.0000 |
| 15:68307585:C:CA | donor_gain | 1.0000 |
| 15:68307585:CT:C | donor_gain | 1.0000 |
| 15:68307585:CTG:C | donor_gain | 1.0000 |
| 15:68307585:CTGC:C | donor_gain | 1.0000 |
| 15:68307585:CTGCT:C | donor_gain | 1.0000 |
| 15:68307692:TGATT:T | acceptor_gain | 1.0000 |
| 15:68307693:GATT:G | acceptor_gain | 1.0000 |
| 15:68307694:ATT:A | acceptor_gain | 1.0000 |
| 15:68307695:TT:T | acceptor_gain | 1.0000 |
| 15:68307697:C:CC | acceptor_gain | 1.0000 |
| 15:68307698:T:G | acceptor_loss | 1.0000 |
| 15:68310986:ACACT:A | donor_loss | 1.0000 |
| 15:68310987:CACT:C | donor_loss | 1.0000 |
| 15:68310988:ACTCA:A | donor_loss | 1.0000 |
AlphaMissense
7869 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:68339500:C:A | G426W | 1.000 |
| 15:68339601:C:T | G392E | 1.000 |
| 15:68339606:C:A | W390C | 1.000 |
| 15:68339606:C:G | W390C | 1.000 |
| 15:68339608:A:G | W390R | 1.000 |
| 15:68339608:A:T | W390R | 1.000 |
| 15:68350664:A:G | L338S | 1.000 |
| 15:68350715:G:T | A321D | 1.000 |
| 15:68351259:G:T | A298D | 1.000 |
| 15:68351337:C:T | G272E | 1.000 |
| 15:68351338:C:A | G272W | 1.000 |
| 15:68351339:A:C | D271E | 1.000 |
| 15:68351339:A:T | D271E | 1.000 |
| 15:68351340:T:A | D271V | 1.000 |
| 15:68351341:C:G | D271H | 1.000 |
| 15:68358524:C:A | W178C | 1.000 |
| 15:68358524:C:G | W178C | 1.000 |
| 15:68358526:A:G | W178R | 1.000 |
| 15:68358526:A:T | W178R | 1.000 |
| 15:68358543:G:A | S172F | 1.000 |
| 15:68358544:A:G | S172P | 1.000 |
| 15:68358549:T:A | D170V | 1.000 |
| 15:68361647:A:G | C139R | 1.000 |
| 15:68361652:C:T | G137E | 1.000 |
| 15:68361653:C:A | G137W | 1.000 |
| 15:68361687:C:A | W125C | 1.000 |
| 15:68361687:C:G | W125C | 1.000 |
| 15:68361699:G:C | C121W | 1.000 |
| 15:68361701:A:G | C121R | 1.000 |
| 15:68332462:C:T | G481E | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000004062 (15:68301020 G>A), RS1000017215 (15:68359744 A>G), RS1000035229 (15:68301307 G>C), RS1000050345 (15:68382356 C>T), RS1000082629 (15:68354449 C>T), RS1000082919 (15:68379391 G>A,T), RS1000085519 (15:68318693 G>A), RS1000106515 (15:68433220 G>C), RS1000111623 (15:68316482 A>G), RS1000144836 (15:68323898 C>A,T), RS1000152570 (15:68379618 G>A), RS1000153489 (15:68376981 T>C,G), RS1000175952 (15:68306516 C>G,T), RS1000176702 (15:68342325 C>T), RS1000183599 (15:68308886 G>A)
Disease associations
OMIM: gene MIM:604789 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000246_9 | Attention deficit hyperactivity disorder | 1.000000e-07 |
| GCST001850_12 | Major depressive disorder | 9.000000e-07 |
| GCST001850_6 | Major depressive disorder | 3.000000e-07 |
| GCST003670_1 | Systolic blood pressure | 3.000000e-08 |
| GCST003670_10 | Systolic blood pressure | 1.000000e-07 |
| GCST004858_20 | Dupuytren’s disease | 9.000000e-11 |
| GCST008763_1 | Perceived intensity of fructose | 3.000000e-06 |
| GCST012227_295 | Hip circumference adjusted for BMI | 2.000000e-09 |
| GCST012229_222 | Hip index | 5.000000e-09 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006335 | systolic blood pressure |
| EFO:0004229 | Dupuytren Contracture |
| EFO:0008039 | BMI-adjusted hip circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5883 (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
CTD chemical–gene interactions
53 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | increases expression, increases methylation | 2 |
| sodium arsenite | decreases expression, increases expression | 2 |
| Acetaminophen | decreases expression, increases expression | 2 |
| Benzo(a)pyrene | decreases methylation, increases expression, increases methylation | 2 |
| Copper | affects binding, increases expression | 2 |
| Dexamethasone | decreases expression, affects cotreatment | 2 |
| Valproic Acid | increases expression, increases methylation | 2 |
| Aflatoxin B1 | affects methylation, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| bisphenol F | affects cotreatment, increases methylation | 1 |
| methyleugenol | increases expression | 1 |
| propionaldehyde | decreases expression | 1 |
| cinnamaldehyde | increases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| rutecarpine | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | decreases expression, affects cotreatment | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| CD 437 | decreases expression | 1 |
| entinostat | increases expression | 1 |
| 3-(4’-hydroxy-3’-adamantylbiphenyl-4-yl)acrylic acid | decreases expression | 1 |
| 2,2’,4,4’,5-brominated diphenyl ether | increases expression | 1 |
| abrine | decreases expression | 1 |
| quinocetone | decreases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Dasatinib | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Bleomycin | decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL905726 | Binding | Inhibition of integrin alpha-11 binding to collagen 1 at 50 uM | Small molecule designed to target metal binding site in the alpha2I domain inhibits integrin function. — J Med Chem |
Cellosaurus cell lines
3 cell lines: 2 cancer cell line, 1 spontaneously immortalized cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A0NQ | C2C12-hITGA11 | Spontaneously immortalized cell line | Female |
| CVCL_B1UU | Abcam HeLa ITGA11 KO | Cancer cell line | Female |
| CVCL_E0FF | Ubigene HeLa ITGA11 KO | Cancer cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.