ITGAD
gene geneOn this page
Also known as CD11dADB2
Summary
ITGAD (integrin subunit alpha D, HGNC:6146) is a protein-coding gene on chromosome 16p11.2, encoding Integrin alpha-D (Q13349). Integrin alpha-D/beta-2 is a receptor for ICAM3 and VCAM1.
This gene belongs to the beta-2 integrin family of membrane glycoproteins, which are are composed of non-covalently linked alpha and beta subunits to form a heterodimer. It encodes the alpha subunit of the cell surface heterodimers and is involved in the activation and adhesion functions of leukocytes. The gene is located about 11kb downstream of the integrin subunit alpha X gene, another member of the integrin family. It is expressed in the tissue and circulating myeloid leukocytes. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 3681 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 197 total
- MANE Select transcript:
NM_005353
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6146 |
| Approved symbol | ITGAD |
| Name | integrin subunit alpha D |
| Location | 16p11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CD11d, ADB2 |
| Ensembl gene | ENSG00000156886 |
| Ensembl biotype | protein_coding |
| OMIM | 602453 |
| Entrez | 3681 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 2 retained_intron, 1 protein_coding
ENST00000389202, ENST00000444228, ENST00000567308
RefSeq mRNA: 2 — MANE Select: NM_005353
NM_001318185, NM_005353
CCDS: CCDS32438
Canonical transcript exons
ENST00000389202 — 30 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000944408 | 31418075 | 31418191 |
| ENSE00000944409 | 31418301 | 31418380 |
| ENSE00000944410 | 31418481 | 31418564 |
| ENSE00000944411 | 31423114 | 31423192 |
| ENSE00000944412 | 31423352 | 31423459 |
| ENSE00000944413 | 31423571 | 31423648 |
| ENSE00000944417 | 31426015 | 31426505 |
| ENSE00001028903 | 31416213 | 31416286 |
| ENSE00001028907 | 31416505 | 31416646 |
| ENSE00001028909 | 31407766 | 31407916 |
| ENSE00001028912 | 31414860 | 31414991 |
| ENSE00001028913 | 31414451 | 31414605 |
| ENSE00001028921 | 31413089 | 31413246 |
| ENSE00001172171 | 31408425 | 31408498 |
| ENSE00001297155 | 31407515 | 31407668 |
| ENSE00001505169 | 31424467 | 31424577 |
| ENSE00001610688 | 31410395 | 31410524 |
| ENSE00001626717 | 31412838 | 31412968 |
| ENSE00001648806 | 31411076 | 31411216 |
| ENSE00001679592 | 31423845 | 31423958 |
| ENSE00001687613 | 31424102 | 31424203 |
| ENSE00001699180 | 31410736 | 31410878 |
| ENSE00001802670 | 31411308 | 31411517 |
| ENSE00002292940 | 31393335 | 31393391 |
| ENSE00003462826 | 31397795 | 31397909 |
| ENSE00003464683 | 31402115 | 31402245 |
| ENSE00003508940 | 31397359 | 31397462 |
| ENSE00003556085 | 31403500 | 31403645 |
| ENSE00003692821 | 31394236 | 31394341 |
| ENSE00003692867 | 31397596 | 31397666 |
Expression profiles
Bgee: expression breadth ubiquitous, 123 present calls, max score 86.32.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0724 / max 14.6479, expressed in 31 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 153821 | 0.0544 | 20 |
| 153820 | 0.0180 | 9 |
Top tissues by expression
239 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 86.32 | gold quality |
| spleen | UBERON:0002106 | 81.00 | gold quality |
| endometrium epithelium | UBERON:0004811 | 69.52 | gold quality |
| gastrocnemius | UBERON:0001388 | 69.15 | gold quality |
| muscle of leg | UBERON:0001383 | 68.36 | gold quality |
| lymph node | UBERON:0000029 | 68.12 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 67.65 | gold quality |
| paraflocculus | UBERON:0005351 | 64.13 | gold quality |
| frontal pole | UBERON:0002795 | 63.96 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 63.85 | gold quality |
| vermiform appendix | UBERON:0001154 | 62.38 | gold quality |
| blood | UBERON:0000178 | 61.43 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 61.35 | gold quality |
| decidua | UBERON:0002450 | 58.42 | silver quality |
| cerebellar vermis | UBERON:0004720 | 57.71 | gold quality |
| right lobe of liver | UBERON:0001114 | 57.56 | gold quality |
| caecum | UBERON:0001153 | 57.54 | gold quality |
| gall bladder | UBERON:0002110 | 57.13 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 55.97 | gold quality |
| right lung | UBERON:0002167 | 55.81 | gold quality |
| bone marrow cell | CL:0002092 | 54.70 | silver quality |
| skeletal muscle tissue | UBERON:0001134 | 54.64 | gold quality |
| liver | UBERON:0002107 | 54.13 | gold quality |
| colonic epithelium | UBERON:0000397 | 53.62 | gold quality |
| endometrium | UBERON:0001295 | 53.37 | gold quality |
| heart left ventricle | UBERON:0002084 | 53.08 | gold quality |
| muscle tissue | UBERON:0002385 | 52.80 | gold quality |
| cardiac ventricle | UBERON:0002082 | 52.64 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 52.62 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 52.05 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6678 | yes | 28.66 |
| E-ANND-3 | yes | 5.92 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): KLF10, KLF2, KLF4, PAX3, SP1, SP3, ZNF354C
miRNA regulators (miRDB)
25 targeting ITGAD, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-9718 | 99.94 | 68.91 | 918 |
| HSA-MIR-3686 | 99.90 | 70.53 | 2432 |
| HSA-MIR-4495 | 99.82 | 72.08 | 3080 |
| HSA-MIR-587 | 99.64 | 70.86 | 2611 |
| HSA-MIR-298 | 99.63 | 67.56 | 1916 |
| HSA-MIR-6832-5P | 99.58 | 64.82 | 1132 |
| HSA-MIR-190A-5P | 99.54 | 71.45 | 933 |
| HSA-MIR-190B-5P | 99.54 | 71.40 | 925 |
| HSA-MIR-3182 | 99.40 | 68.15 | 2454 |
| HSA-MIR-4426 | 99.17 | 66.74 | 1949 |
| HSA-MIR-4292 | 99.16 | 65.57 | 1767 |
| HSA-MIR-6791-5P | 99.16 | 65.92 | 1844 |
| HSA-MIR-4504 | 99.10 | 69.14 | 1328 |
| HSA-MIR-4451 | 98.82 | 68.17 | 1455 |
| HSA-MIR-4520-3P | 98.75 | 66.55 | 963 |
| HSA-MIR-6804-3P | 98.72 | 64.82 | 852 |
| HSA-MIR-4536-5P | 98.47 | 64.39 | 657 |
| HSA-MIR-628-5P | 98.36 | 67.74 | 844 |
| HSA-MIR-4662B | 98.33 | 66.37 | 1163 |
| HSA-MIR-4647 | 98.30 | 66.41 | 1139 |
| HSA-MIR-5196-3P | 97.57 | 65.98 | 979 |
| HSA-MIR-6894-3P | 96.73 | 65.64 | 798 |
| HSA-MIR-9900 | 96.06 | 65.48 | 557 |
| HSA-MIR-584-5P | 95.82 | 68.05 | 848 |
| HSA-MIR-758-5P | 93.99 | 64.46 | 534 |
Literature-anchored findings (GeneRIF, showing 9)
- a longer isoform of gut-enriched Kruppel-like factor 4 (GKLF) we term GKLFa interacts with the CD11d promoter (PMID:15561714)
- multiple CD11d domains play a role in controlling intracellular location and association with CD18. (PMID:19571252)
- CD11d expression increased in the subcutaneous white adipose tissue of obese adult women; this appears to be a common feature of obesity. (PMID:21508205)
- the cross-talk between neutrophils and NK cells is mediated by ICAM-3 and CD11d/CD18, respectively. (PMID:21712539)
- The effects of anti-CD11d treatment improves functional recovery in a rat model of repeated concussion. (PMID:23414334)
- alpha(D)beta(2) is a major member of the integrin repertoire of both circulating and tissue myeloid leukocytes in humans (PMID:25415295)
- These results expand the potential for CD11d to regulate lymphocyte migration and tissue retention, and illuminate the possibility of a previously unconsidered role for CD11d in leukocyte biology and disease. (PMID:27881604)
- findings suggest that CD11d/CD18 upregulation on proinflammatory macrophages may represent a common mechanism for macrophage retention at inflammatory sites, thereby promoting chronic inflammation and disease development. (PMID:28500072)
- LINC02190 inhibits the embryo-endometrial attachment by decreasing ITGAD expression. (PMID:35038314)
Cross-species orthologs
9 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Itgad | ENSMUSG00000070369 |
| rattus_norvegicus | Itgad | ENSRNOG00000068399 |
| 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), ITGA3 (ENSG00000005884), ITGA2B (ENSG00000005961), ITGA8 (ENSG00000077943), ITGAE (ENSG00000083457), ITGA6 (ENSG00000091409), ITGA4 (ENSG00000115232), ITGA7 (ENSG00000135424), ITGA11 (ENSG00000137809), ITGAV (ENSG00000138448), ITGAX (ENSG00000140678), ITGA10 (ENSG00000143127), ITGA9 (ENSG00000144668), ITGA5 (ENSG00000161638), ITGA2 (ENSG00000164171), ITGAM (ENSG00000169896), ITGA1 (ENSG00000213949)
Protein
Protein identifiers
Integrin alpha-D — Q13349 (reviewed: Q13349)
Alternative names: ADB2, CD11 antigen-like family member D, Leukointegrin alpha D
All UniProt accessions (1): Q13349
UniProt curated annotations — full annotation on UniProt →
Function. Integrin alpha-D/beta-2 is a receptor for ICAM3 and VCAM1. May play a role in the atherosclerotic process such as clearing lipoproteins from plaques and in phagocytosis of blood-borne pathogens, particulate matter, and senescent erythrocytes from the blood.
Subunit / interactions. Heterodimer of an alpha and a beta subunit. Alpha-D associates with beta-2.
Subcellular location. Cell membrane.
Tissue specificity. Expressed moderately on myelomonocytic cell lines and subsets of peripheral blood leukocytes and strongly on tissue-specialized cells, including macrophages foam cells within atherosclerotic plaques, and on splenic red pulp macrophages.
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_001305114, NP_005344* (*=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 |
| IPR018184 | Integrin_alpha_C_CS | Conserved_site |
| 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 |
| IPR048633 | ITGAX-like_Ig_3 | Domain |
Pfam: PF00092, PF00357, PF01839, PF08441, PF20805, PF21520
UniProt features (44 total): binding site 11, glycosylation site 9, repeat 7, disulfide bond 7, sequence conflict 3, topological domain 2, signal peptide 1, chain 1, short sequence motif 1, transmembrane region 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q13349-F1 | 85.48 | 0.52 |
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 (11): 465; 467; 469; 473; 529; 531; 533; 537; 592; 596; 600
Disulfide bonds (7): 67–74, 106–124, 654–709, 768–774, 845–860, 993–1017, 1022–1027
Glycosylation sites (9): 59, 87, 99, 391, 690, 732, 872, 956, 1045
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: 60 (showing top):
GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, GOCC_CELL_SURFACE, GOBP_CELL_CELL_ADHESION, SETLUR_PROSTATE_CANCER_TMPRSS2_ERG_FUSION_DN, chr16p11, GOBP_CELL_ADHESION_MEDIATED_BY_INTEGRIN, GOBP_CELL_SUBSTRATE_ADHESION, GOBP_CELL_MATRIX_ADHESION, GOBP_INTEGRIN_MEDIATED_SIGNALING_PATHWAY, SCHLOSSER_SERUM_RESPONSE_UP, REACTOME_INTEGRIN_CELL_SURFACE_INTERACTIONS, GOBP_HETEROTYPIC_CELL_CELL_ADHESION, PID_INTEGRIN2_PATHWAY, GOCC_PLASMA_MEMBRANE_SIGNALING_RECEPTOR_COMPLEX, GOCC_PROTEIN_COMPLEX_INVOLVED_IN_CELL_ADHESION
GO Biological Process (5): immune response (GO:0006955), integrin-mediated signaling pathway (GO:0007229), heterotypic cell-cell adhesion (GO:0034113), cell-cell adhesion (GO:0098609), cell adhesion (GO:0007155)
GO Molecular Function (2): signaling receptor activity (GO:0038023), metal ion binding (GO:0046872)
GO Cellular Component (5): plasma membrane (GO:0005886), integrin complex (GO:0008305), cell surface (GO:0009986), integrin alphaD-beta2 complex (GO:0034690), membrane (GO:0016020)
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 |
|---|---|
| cellular anatomical structure | 2 |
| immune system process | 1 |
| response to stimulus | 1 |
| cell surface receptor signaling pathway | 1 |
| cell-cell adhesion | 1 |
| cell adhesion | 1 |
| cellular process | 1 |
| molecular transducer activity | 1 |
| cation binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| protein complex involved in cell adhesion | 1 |
| plasma membrane signaling receptor complex | 1 |
| integrin complex | 1 |
Protein interactions and networks
STRING
588 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ITGAD | ITGB2 | P05107 | 997 |
| ITGAD | VCAM1 | P19320 | 962 |
| ITGAD | ICAM1 | P05362 | 647 |
| ITGAD | VTN | P01141 | 639 |
| ITGAD | CCN1 | O00622 | 575 |
| ITGAD | FN1 | P02751 | 510 |
| ITGAD | ICAM3 | P32942 | 463 |
| ITGAD | ALB | P02768 | 462 |
| ITGAD | PLG | P00747 | 454 |
| ITGAD | CD86 | P42081 | 451 |
| ITGAD | CD80 | P33681 | 429 |
| ITGAD | FERMT3 | Q86UX7 | 407 |
| ITGAD | ITGA2 | P17301 | 398 |
| ITGAD | ITGAX | P20702 | 390 |
| ITGAD | ITGB6 | P18564 | 386 |
IntAct
6 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RRP1B | YY2 | psi-mi:“MI:0914”(association) | 0.350 |
| RPL32 | MRPL3 | psi-mi:“MI:0914”(association) | 0.350 |
| ITGAD | HSPA5 | psi-mi:“MI:0914”(association) | 0.350 |
| ITGAD | DUSP14 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (46): SHARPIN (Protein-peptide), ITGB2 (Affinity Capture-Western), ICAM3 (Reconstituted Complex), ITGAD (Reconstituted Complex), HIGD2A (Affinity Capture-MS), HIST2H2AC (Affinity Capture-MS), ITGAD (Affinity Capture-MS), SLC25A6 (Affinity Capture-MS), HSPA5 (Affinity Capture-MS), TUBA1B (Affinity Capture-MS), MESDC2 (Affinity Capture-MS), NDUFA9 (Affinity Capture-MS), NDUFA6 (Affinity Capture-MS), POLD3 (Affinity Capture-MS), EDEM2 (Affinity Capture-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
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ITGAD | “form complex” | “AD/b2 integrin” | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
197 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 176 |
| Likely benign | 12 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4912 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:31393387:GAGTG:G | donor_gain | 1.0000 |
| 16:31393389:GTG:G | donor_gain | 1.0000 |
| 16:31394252:T:TA | acceptor_gain | 1.0000 |
| 16:31397355:CCAGA:C | acceptor_loss | 1.0000 |
| 16:31397356:CAGA:C | acceptor_loss | 1.0000 |
| 16:31397357:A:AG | acceptor_gain | 1.0000 |
| 16:31397357:AGAC:A | acceptor_loss | 1.0000 |
| 16:31397358:G:GA | acceptor_gain | 1.0000 |
| 16:31397358:GACTC:G | acceptor_gain | 1.0000 |
| 16:31397458:GCACA:G | donor_gain | 1.0000 |
| 16:31397463:G:GG | donor_gain | 1.0000 |
| 16:31397594:A:AG | acceptor_gain | 1.0000 |
| 16:31397595:G:GG | acceptor_gain | 1.0000 |
| 16:31397667:GTGA:G | donor_gain | 1.0000 |
| 16:31397669:GA:G | donor_gain | 1.0000 |
| 16:31397671:G:GG | donor_gain | 1.0000 |
| 16:31403641:GTGGT:G | donor_gain | 1.0000 |
| 16:31403644:GT:G | donor_gain | 1.0000 |
| 16:31403646:G:GG | donor_gain | 1.0000 |
| 16:31407911:T:G | donor_gain | 1.0000 |
| 16:31407915:GG:G | donor_gain | 1.0000 |
| 16:31407916:GG:G | donor_gain | 1.0000 |
| 16:31407924:G:GT | donor_gain | 1.0000 |
| 16:31411212:GGGGG:G | donor_gain | 1.0000 |
| 16:31411213:GGGGG:G | donor_gain | 1.0000 |
| 16:31411214:GGG:G | donor_gain | 1.0000 |
| 16:31411215:GGG:G | donor_gain | 1.0000 |
| 16:31412831:T:TA | acceptor_gain | 1.0000 |
| 16:31413088:GGA:G | acceptor_gain | 1.0000 |
| 16:31413243:C:G | donor_gain | 1.0000 |
AlphaMissense
7600 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:31424129:A:C | S1063R | 0.989 |
| 16:31424131:T:A | S1063R | 0.989 |
| 16:31424131:T:G | S1063R | 0.989 |
| 16:31394307:T:C | F35L | 0.982 |
| 16:31394309:T:A | F35L | 0.982 |
| 16:31394309:T:G | F35L | 0.982 |
| 16:31411088:T:C | F457L | 0.981 |
| 16:31411090:C:A | F457L | 0.981 |
| 16:31411090:C:G | F457L | 0.981 |
| 16:31411368:T:C | F520L | 0.981 |
| 16:31411370:T:A | F520L | 0.981 |
| 16:31411370:T:G | F520L | 0.981 |
| 16:31402165:A:C | S160R | 0.977 |
| 16:31402167:C:A | S160R | 0.977 |
| 16:31402167:C:G | S160R | 0.977 |
| 16:31402201:T:C | F172L | 0.977 |
| 16:31402203:T:A | F172L | 0.977 |
| 16:31402203:T:G | F172L | 0.977 |
| 16:31410810:G:T | G430W | 0.974 |
| 16:31410524:G:C | G405R | 0.972 |
| 16:31407600:G:C | D264H | 0.971 |
| 16:31411371:G:T | G521W | 0.970 |
| 16:31402183:T:C | F166L | 0.969 |
| 16:31402185:T:A | F166L | 0.969 |
| 16:31402185:T:G | F166L | 0.969 |
| 16:31407568:T:C | L253P | 0.969 |
| 16:31410789:G:C | A423P | 0.969 |
| 16:31411369:T:G | F520C | 0.969 |
| 16:31394308:T:G | F35C | 0.968 |
| 16:31407584:T:A | D258E | 0.968 |
dbSNP variants (sampled 300 via entrez): RS1000044275 (16:31409966 A>T), RS1000065253 (16:31426651 G>T), RS1000132604 (16:31417591 G>T), RS1000180487 (16:31404540 G>A,C), RS1000270394 (16:31417796 T>A,C), RS1000290676 (16:31411105 C>T), RS1000373061 (16:31417281 G>A,T), RS1000382597 (16:31422891 A>G), RS1000457508 (16:31424593 A>C), RS1000524313 (16:31406114 G>A), RS1000582476 (16:31411964 T>C), RS1000617600 (16:31392192 A>G,T), RS1000649139 (16:31409679 G>A), RS1000731877 (16:31392502 G>T), RS1000766014 (16:31424319 A>G,T)
Disease associations
OMIM: gene MIM:602453 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): prostate cancer (MONDO:0008315)
Orphanet (1): Familial prostate cancer (Orphanet:1331)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004621_184 | Red cell distribution width | 5.000000e-19 |
| GCST004630_202 | Mean corpuscular hemoglobin | 1.000000e-11 |
| GCST90002385_78 | High light scatter reticulocyte count | 6.000000e-14 |
| GCST90002386_285 | High light scatter reticulocyte percentage of red cells | 1.000000e-16 |
| GCST90002400_176 | Plateletcrit | 3.000000e-10 |
| GCST90002402_458 | Platelet count | 2.000000e-14 |
| GCST90002404_338 | Red cell distribution width | 2.000000e-32 |
| GCST90002405_308 | Reticulocyte count | 1.000000e-15 |
| GCST90002406_434 | Reticulocyte fraction of red cells | 2.000000e-19 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009188 | Red cell distribution width |
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0007986 | reticulocyte count |
| EFO:0007985 | platelet crit |
| EFO:0004309 | platelet count |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
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
18 total (human), top 18 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, increases methylation | 2 |
| triphenyl phosphate | affects expression | 1 |
| butyraldehyde | increases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| tebuconazole | decreases expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| perfluorohexanesulfonic acid | decreases expression | 1 |
| Air Pollutants | increases abundance, affects expression | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Methapyrilene | increases methylation | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Triclosan | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Cadmium Chloride | decreases expression, increases abundance | 1 |
| Okadaic Acid | increases expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | PHASE4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | PHASE4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | PHASE4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | PHASE4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | PHASE4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | PHASE4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | PHASE4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | PHASE4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | PHASE4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | PHASE4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | PHASE4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | PHASE4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | PHASE4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | PHASE4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | PHASE4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | PHASE4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | PHASE4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | PHASE4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | PHASE4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | PHASE4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
| NCT00953277 | PHASE4 | COMPLETED | Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer |
| NCT00982800 | PHASE4 | COMPLETED | Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? |
| NCT01083199 | PHASE4 | COMPLETED | Global Performance Evaluation of the AMS CONTINUUM™ Device |
| NCT01136226 | PHASE4 | COMPLETED | Evaluate Recovery of Testosterone for Patients Using Eligard |
| NCT01161563 | PHASE4 | COMPLETED | Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration |
| NCT01230905 | PHASE4 | COMPLETED | Study to Monitor the Effects of Androgen Suppression Treatment on the Heart |
| NCT01296672 | PHASE4 | COMPLETED | 3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer |
| NCT01365143 | PHASE4 | TERMINATED | Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy |
| NCT01379742 | PHASE4 | UNKNOWN | Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy |
| NCT01486563 | PHASE4 | COMPLETED | Hydroxyethyl Starch and Renal Function After Radical Prostatectomy |
| NCT01511874 | PHASE4 | COMPLETED | Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer |
| NCT01512472 | PHASE4 | TERMINATED | Firmagon (Degarelix) Intermittent Therapy |
| NCT01547416 | PHASE4 | COMPLETED | The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function |
| NCT01571544 | PHASE4 | COMPLETED | The Use of Thermal Suits as Preventing Hypothermia During Surgery |
| NCT01581749 | PHASE4 | UNKNOWN | Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer |
| NCT01649635 | PHASE4 | COMPLETED | Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.