CD2AP
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Also known as CMS
Summary
CD2AP (CD2 associated protein, HGNC:14258) is a protein-coding gene on chromosome 6p12.3, encoding CD2-associated protein (Q9Y5K6). Seems to act as an adapter protein between membrane proteins and the actin cytoskeleton.
This gene encodes a scaffolding molecule that regulates the actin cytoskeleton. The protein directly interacts with filamentous actin and a variety of cell membrane proteins through multiple actin binding sites, SH3 domains, and a proline-rich region containing binding sites for SH3 domains. The cytoplasmic protein localizes to membrane ruffles, lipid rafts, and the leading edges of cells. It is implicated in dynamic actin remodeling and membrane trafficking that occurs during receptor endocytosis and cytokinesis. Haploinsufficiency of this gene is implicated in susceptibility to glomerular disease.
Source: NCBI Gene 23607 — RefSeq curated summary.
At a glance
- Gene–disease (curated): focal segmental glomerulosclerosis 3, susceptibility to (Definitive, ClinGen) — +2 more curated relationships
- GWAS associations: 22
- Clinical variants (ClinVar): 464 total — 9 pathogenic, 10 likely-pathogenic
- Phenotypes (HPO): 20
- Druggable target: yes
- MANE Select transcript:
NM_012120
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14258 |
| Approved symbol | CD2AP |
| Name | CD2 associated protein |
| Location | 6p12.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CMS |
| Ensembl gene | ENSG00000198087 |
| Ensembl biotype | protein_coding |
| OMIM | 604241 |
| Entrez | 23607 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 9 protein_coding, 2 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000359314, ENST00000463175, ENST00000477159, ENST00000479857, ENST00000486693, ENST00000865252, ENST00000865253, ENST00000865254, ENST00000931707, ENST00000931708, ENST00000931709, ENST00000960842, ENST00000960843
RefSeq mRNA: 1 — MANE Select: NM_012120
NM_012120
CCDS: CCDS34472
Canonical transcript exons
ENST00000359314 — 18 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000619362 | 47533602 | 47533755 |
| ENSE00000755720 | 47503280 | 47503440 |
| ENSE00001139019 | 47609123 | 47609304 |
| ENSE00001139023 | 47607927 | 47608028 |
| ENSE00001139029 | 47606165 | 47606277 |
| ENSE00001139036 | 47599301 | 47599443 |
| ENSE00001139043 | 47595861 | 47596026 |
| ENSE00001139049 | 47582003 | 47582065 |
| ENSE00001139061 | 47579385 | 47579489 |
| ENSE00001139077 | 47576524 | 47576602 |
| ENSE00001139085 | 47574064 | 47574251 |
| ENSE00001139093 | 47554646 | 47554766 |
| ENSE00001139103 | 47544606 | 47544706 |
| ENSE00001176400 | 47612473 | 47612536 |
| ENSE00001454693 | 47624186 | 47627263 |
| ENSE00001516297 | 47477789 | 47478248 |
| ENSE00003554329 | 47577009 | 47577103 |
| ENSE00003629079 | 47580864 | 47580900 |
Expression profiles
Bgee: expression breadth ubiquitous, 275 present calls, max score 98.97.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 33.4497 / max 565.7377, expressed in 1811 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 68157 | 23.3049 | 1802 |
| 68161 | 4.2379 | 1458 |
| 68158 | 3.8935 | 1134 |
| 68166 | 0.6140 | 350 |
| 68160 | 0.5927 | 280 |
| 68159 | 0.3496 | 140 |
| 68167 | 0.3439 | 120 |
| 204018 | 0.1132 | 35 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| jejunal mucosa | UBERON:0000399 | 98.97 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 97.04 | gold quality |
| colonic mucosa | UBERON:0000317 | 96.99 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 96.88 | gold quality |
| duodenum | UBERON:0002114 | 96.14 | gold quality |
| rectum | UBERON:0001052 | 94.49 | gold quality |
| renal glomerulus | UBERON:0000074 | 94.47 | gold quality |
| amniotic fluid | UBERON:0000173 | 94.41 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 94.32 | gold quality |
| oral cavity | UBERON:0000167 | 94.24 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 94.19 | gold quality |
| caput epididymis | UBERON:0004358 | 94.12 | gold quality |
| corpus epididymis | UBERON:0004359 | 93.99 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 93.91 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 93.89 | gold quality |
| bronchial epithelial cell | CL:0002328 | 93.23 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 92.94 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 92.89 | gold quality |
| islet of Langerhans | UBERON:0000006 | 92.82 | gold quality |
| visceral pleura | UBERON:0002401 | 92.74 | gold quality |
| calcaneal tendon | UBERON:0003701 | 92.39 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 92.19 | gold quality |
| nephron tubule | UBERON:0001231 | 92.02 | gold quality |
| colonic epithelium | UBERON:0000397 | 91.72 | gold quality |
| parietal pleura | UBERON:0002400 | 91.62 | gold quality |
| upper leg skin | UBERON:0004262 | 91.61 | gold quality |
| pleura | UBERON:0000977 | 91.56 | gold quality |
| buccal mucosa cell | CL:0002336 | 91.50 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 91.35 | gold quality |
| seminal vesicle | UBERON:0000998 | 91.15 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 5.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-119 | yes | 29.40 |
| E-CURD-112 | yes | 14.47 |
| E-CURD-122 | yes | 13.54 |
| E-CURD-114 | yes | 9.70 |
| E-ANND-3 | yes | 9.02 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CREB1, E2F1, FOS, JUND, LMX1B, SP1, SP3
miRNA regulators (miRDB)
242 targeting CD2AP, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
Literature-anchored findings (GeneRIF, showing 40)
- PSTPIP1 acts downstream of CD2/CD2AP to link CD2 engagement to the WASp-evoked actin polymerization required for synapse formation and T cell activation. (PMID:12530983)
- cortactin links receptor endocytosis to actin polymerization by binding both CD2AP and the Arp2/3 complex, which may facilitate the trafficking of internalized growth factor receptors (PMID:12672817)
- Cd2 antigen is linked to CAPZ via this protein and CIN85 (PMID:12690097)
- two patients with focal segmental glomerulosclerosis had a mutation predicted to ablate expression of one CD2AP allele, implicating CD2AP as a determinant of human susceptibility to glomerular disease (PMID:12764198)
- exposure to normal and non-nephrotic human plasma leads to a concentration of nephrin, podocin, CD2AP, and actin at the cell surface in podocytes (PMID:15659563)
- CD2AP is involved in cytokinesis. (PMID:15800069)
- CD2AP has a role in the regulation of the actin cytoskeleton (PMID:16707503)
- CFBP is a novel tyrosine-phosphorylated protein that might function as a regulator of CIN85/CD2AP (PMID:16895919)
- structures support the notion that, despite clear differences in the interaction surface, both Cbl-b and CD2 can mediate multimerization of N-terminal CMS SH3 domains (PMID:17020880)
- This work indicates the solution structure of CMS_SH3_B bears the canonical beta-beta-beta-beta-alpha-beta fold and a new binding site in c-Cbl involved in its interaction with CMS, which probably contributes to the clustering of CMS. (PMID:17188587)
- CIN85 is expressed as multiple isoforms that share the coiled-coil domain, suggesting that heterotypic interactions with CMS provides a mechanism to regulate CMS binding to F-actin and thus for modulating dynamic rearrangements of the cytoskeleton. (PMID:17606992)
- Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation. (PMID:17713465)
- identified a polyproline-arginine sequence in the pTalpha cytoplasmic tail that interacted in vitro with SH3 domains of the CIN85/CMS family of adaptors, and mediated the recruitment of multiprotein complexes involving all (CMS, CIN85, and CD2BP3) members (PMID:17823309)
- that ALIX and TSG101/ESCRT-I also bind a series of proteins involved in cytokinesis, including CEP55, CD2AP, ROCK1, and IQGAP1. (PMID:17853893)
- The three-dimensional structure of CD2AP SH3-C contains all the features that are typically found in other SH3 domains, including the general binding site for the recognition of polyproline sequences. (PMID:17922258)
- promotor activity in rental tubular epithelial cells is regulated by CREB and Sp1 (PMID:18396147)
- Sp1/Sp3 binding sites play a critical role in the CD2AP regulation. (PMID:18791326)
- CD2AP mutations modify the interaction with CD2 in lymphocytes and alter the composition of the renal slit diaphragm. (PMID:19131354)
- CD2AP, through facilitating conjugate formation and directed transport of lytic granules, plays an important role in NK cells killing. (PMID:19945749)
- The absence of mutations of CD2AP in this study suggests that there are other genetic causes of steroid-resistant nephrotic syndrome (PMID:19956976)
- Data identify CD2AP as a novel Rac1-associated adapter protein that participates in the regulation of epithelial cell-cell contact. (PMID:20404345)
- Coexpression of CIN85/Ruk(L) with CD2AP led to a decreased binding of CIN85/Ruk(L) to nephrin and podocin, which indicates a functional competition between CD2AP and CIN85/Ruk(L). (PMID:20457601)
- The authors report that CD2AP, an endocytosis-associated and cortactin-binding protein, is a novel and important component of enteropathogenic Escherichia coli pedestal formation that also utilizes Y474 phosphorylation of the bacterial Tir. (PMID:20515931)
- found independent evidence for association for Alzheimer’s disease susceptibility loci at EPHA1, CD33 and CD2AP (PMID:21460840)
- Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer’s disease. (PMID:21460841)
- found that the N-terminal SH3 domain of both adaptor proteins CD2AP and CIN85 are the most stable SH3 domains that have been studied until now (PMID:21519904)
- The urinary mRNA profiles of synaptopodin, podocalyxin, CD2-AP, alpha-actin4, and podocin were found to increase with the progression of diabetic nephropathy. (PMID:21655212)
- identifies CD2AP as the gatekeeper of the podocyte TGF-beta response through its regulation of CatL expression and defines a molecular mechanism underlying proteinuric kidney disease (PMID:21911934)
- CD2AP is highly expressed in human plasmacytoid dendritic cells (DC) and positively regulates blood DC antigen 2 (BDCA2)/Fc fragment of IgE high affinity I receptor (FcepsilonR1gamma) signaling. (PMID:22706086)
- E2F1 up-regulates the human CD2AP promoter. (PMID:22880102)
- an FRS2beta-CIN85/CD2AP-Cbl axis for downregulation of ErbB2 may regulate ErbB2 protein levels in physiological and pathological settings (PMID:23279575)
- CD2AP gene variants may contribute to susceptibility to end-stage renal disease in patients with type 1 diabetes. (PMID:23681557)
- FSGS3/CD2AP has a role of barbed-end capping in junctional actin dynamics. (PMID:24322428)
- CD2AP rs9349407 polymorphism contributes to Alzheimer’s disease susceptibility. (PMID:25092125)
- we present the first demonstration that the purified SH3 domains of the CD2AP/Cin85 protein family are able to directly bind the p53 protein, and to discriminate between the two polymorphic variants P72R (PMID:25261582)
- CD2-Associated Protein affects Abeta levels and Abeta42/Abeta40 ratio in vitro (PMID:25887956)
- discovered novel interaction candidates for CD2AP and characterized subtle yet significant differences in the recognition preferences of its three SH3 domains for c-CBL, ALIX, and RIN3 (PMID:26296892)
- Study found a novel association of CD2AP with plasma homocysteine in participants with African ancestry and found a new variant in the candidate gene CBS associated with homocysteine (PMID:26519441)
- CD2AP expression in renal tubules may histologically associate with tissue hypoxia and reflected recovery from CsA-mediated renal injury in nephrotic syndrome patients. (PMID:26975192)
- data thus reveal a Golgi-traversing pathway for exosomal release of the cargo protein GPRC5B in which CD2AP facilitates the entry and LMAN2 impedes the exit of the flux, respectively. (PMID:27765817)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cd2ap | ENSDARG00000015224 |
| mus_musculus | Cd2ap | ENSMUSG00000061665 |
| rattus_norvegicus | Cd2ap | ENSRNOG00000011987 |
| drosophila_melanogaster | cindr | FBGN0027598 |
| caenorhabditis_elegans | cdap-2 | WBGENE00021549 |
Paralogs (3): SH3KBP1 (ENSG00000147010), NOSTRIN (ENSG00000163072), SH3D21 (ENSG00000214193)
Protein
Protein identifiers
CD2-associated protein — Q9Y5K6 (reviewed: Q9Y5K6)
Alternative names: Adapter protein CMS, Cas ligand with multiple SH3 domains
All UniProt accessions (1): Q9Y5K6
UniProt curated annotations — full annotation on UniProt →
Function. Seems to act as an adapter protein between membrane proteins and the actin cytoskeleton. In collaboration with CBLC, modulates the rate of RET turnover and may act as regulatory checkpoint that limits the potency of GDNF on neuronal survival. Controls CBLC function, converting it from an inhibitor to a promoter of RET degradation. May play a role in receptor clustering and cytoskeletal polarity in the junction between T-cell and antigen-presenting cell. May anchor the podocyte slit diaphragm to the actin cytoskeleton in renal glomerolus. Also required for cytokinesis. Plays a role in epithelial cell junctions formation.
Subunit / interactions. Homodimer. Interacts with F-actin, PKD2, NPHS1 and NPHS2. Interacts with WTIP. Interacts with DDN; interaction is direct. Interacts (via SH3 2 domain) with CBL (via phosphorylated C-terminus). Interacts with BCAR1/p130Cas (via SH3 domain). Interacts with MVB12A and ARHGAP17. Interacts with ANLN, CD2 and CBLB. Interacts with PDCD6IP and TSG101. Interacts with RIN3. Interacts directly with RET (inactive) and CBLC; upon RET activation by GDNF suggested to dissociate from RET as CBLC:CD2AP complex (PubMed:10339567, PubMed:11067845, PubMed:15800069, PubMed:16678097, PubMed:16895919, PubMed:17020880, PubMed:17853893, PubMed:18753381, Ref.30). Interacts with CGNL1 and SH3BP1; probably part of a complex at cell junctions. Interacts with CAPZA1. (Microbial infection) Interacts (via SH3 domains) with Chikungunya virus non-structural protein 3 (via C-terminus); this interaction plays a role in initiation of viral replication.
Subcellular location. Cytoplasm. Cytoskeleton. Cell projection. Ruffle. Cell junction.
Tissue specificity. Widely expressed in fetal and adult tissues.
Post-translational modifications. Phosphorylated on tyrosine residues; probably by c-Abl, Fyn and c-Src.
Disease relevance. Focal segmental glomerulosclerosis 3 (FSGS3) [MIM:607832] A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. Disease susceptibility is associated with variants affecting the gene represented in this entry.
Domain organisation. The Pro-rich domain may mediate binding to SH3 domains. Potential homodimerization is mediated by the coiled coil domain.
RefSeq proteins (1): NP_036252* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001452 | SH3_domain | Domain |
| IPR035775 | CD2AP_SH3_1 | Domain |
| IPR035776 | CD2AP_SH_2 | Domain |
| IPR035777 | CD2AP_SH3_3 | Domain |
| IPR036028 | SH3-like_dom_sf | Homologous_superfamily |
| IPR050384 | Endophilin_SH3RF | Family |
Pfam: PF00018, PF14604
UniProt features (46 total): modified residue 11, strand 10, compositionally biased region 5, region of interest 4, domain 3, short sequence motif 3, sequence variant 3, helix 3, cross-link 2, chain 1, coiled-coil region 1
Structure
Experimental structures (PDB)
12 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3U23 | X-RAY DIFFRACTION | 1.11 |
| 4X1V | X-RAY DIFFRACTION | 1.58 |
| 4WCI | X-RAY DIFFRACTION | 1.65 |
| 7DS6 | X-RAY DIFFRACTION | 1.69 |
| 2J6F | X-RAY DIFFRACTION | 1.7 |
| 3AA6 | X-RAY DIFFRACTION | 1.9 |
| 7DS8 | X-RAY DIFFRACTION | 1.95 |
| 3LK4 | X-RAY DIFFRACTION | 1.99 |
| 2J6O | X-RAY DIFFRACTION | 2.23 |
| 2J6K | X-RAY DIFFRACTION | 2.77 |
| 2J7I | X-RAY DIFFRACTION | 2.9 |
| 2FEI | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y5K6-F1 | 63.04 | 0.31 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (13): 67, 80, 86, 224, 458, 463, 469, 510, 514, 565, 582, 58, 523
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-373753 | Nephrin family interactions |
| R-HSA-1500931 | Cell-Cell communication |
MSigDB gene sets: 594 (showing top):
ATF_B, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_NEGATIVE_REGULATION_OF_NEURON_APOPTOTIC_PROCESS, GOBP_HEPATICOBILIARY_SYSTEM_DEVELOPMENT, GOBP_CARBOHYDRATE_TRANSPORT, GOBP_EPITHELIUM_DEVELOPMENT, FREAC2_01, GOBP_INFLAMMATORY_RESPONSE, GCANCTGNY_MYOD_Q6, AREB6_03, GOBP_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_GROWTH, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION
GO Biological Process (59): immunological synapse formation (GO:0001771), liver development (GO:0001889), endothelium development (GO:0003158), lipid metabolic process (GO:0006629), apoptotic process (GO:0006915), substrate-dependent cell migration, cell extension (GO:0006930), inflammatory response (GO:0006954), response to oxidative stress (GO:0006979), actin filament organization (GO:0007015), signal transduction (GO:0007165), cell population proliferation (GO:0008283), male gonad development (GO:0008584), protein secretion (GO:0009306), response to wounding (GO:0009611), response to virus (GO:0009615), cell migration (GO:0016477), actin filament polymerization (GO:0030041), protein catabolic process (GO:0030163), Rab protein signal transduction (GO:0032482), response to insulin (GO:0032868), transforming growth factor beta1 production (GO:0032905), negative regulation of transforming growth factor beta1 production (GO:0032911), regulation of actin cytoskeleton organization (GO:0032956), maintenance of blood-brain barrier (GO:0035633), nerve growth factor signaling pathway (GO:0038180), phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0043491), negative regulation of neuron apoptotic process (GO:0043524), cell-cell adhesion mediated by cadherin (GO:0044331), cell-cell junction organization (GO:0045216), obsolete D-glucose import (GO:0046323), filopodium assembly (GO:0046847), neurotrophin TRK receptor signaling pathway (GO:0048011), regulation of synaptic plasticity (GO:0048167), lymph node development (GO:0048535), collateral sprouting (GO:0048668), positive regulation of protein secretion (GO:0050714), synapse organization (GO:0050808), T cell receptor signaling pathway (GO:0050852), negative regulation of small GTPase mediated signal transduction (GO:0051058), protein heterooligomerization (GO:0051291)
GO Molecular Function (9): structural constituent of cytoskeleton (GO:0005200), SH3 domain binding (GO:0017124), clathrin binding (GO:0030276), phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312), identical protein binding (GO:0042802), cadherin binding (GO:0045296), actin filament binding (GO:0051015), actin binding (GO:0003779), protein binding (GO:0005515)
GO Cellular Component (27): fibrillar center (GO:0001650), ruffle (GO:0001726), podosome (GO:0002102), nuclear envelope lumen (GO:0005641), cytoplasm (GO:0005737), late endosome (GO:0005770), plasma membrane (GO:0005886), actin cytoskeleton (GO:0015629), axon (GO:0030424), dendrite (GO:0030425), growth cone (GO:0030426), cell leading edge (GO:0031252), neuromuscular junction (GO:0031594), filamentous actin (GO:0031941), vesicle (GO:0031982), trans-Golgi network membrane (GO:0032588), centriolar satellite (GO:0034451), slit diaphragm (GO:0036057), extracellular exosome (GO:0070062), cytoskeleton (GO:0005856), actin filament (GO:0005884), cell-cell junction (GO:0005911), protein-containing complex (GO:0032991), cell projection (GO:0042995), neuron projection (GO:0043005), anchoring junction (GO:0070161), cell periphery (GO:0071944)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Cell-Cell communication | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| response to stress | 2 |
| cellular process | 2 |
| cytoskeleton | 2 |
| protein binding | 2 |
| neuron projection | 2 |
| cell-cell recognition | 1 |
| lymphocyte activation | 1 |
| gland development | 1 |
| hepaticobiliary system development | 1 |
| epithelium development | 1 |
| primary metabolic process | 1 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| substrate-dependent cell migration | 1 |
| plasma membrane bounded cell projection assembly | 1 |
| defense response | 1 |
| actin cytoskeleton organization | 1 |
| supramolecular fiber organization | 1 |
| cell communication | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| gonad development | 1 |
| development of primary male sexual characteristics | 1 |
| protein transport | 1 |
| secretion by cell | 1 |
| establishment of protein localization to extracellular region | 1 |
| protein localization to extracellular region | 1 |
| response to other organism | 1 |
| cell motility | 1 |
| actin polymerization or depolymerization | 1 |
| protein polymerization | 1 |
| macromolecule catabolic process | 1 |
| protein metabolic process | 1 |
| small GTPase-mediated signal transduction | 1 |
| response to peptide hormone | 1 |
| structural molecule activity | 1 |
| cytoskeleton organization | 1 |
Protein interactions and networks
STRING
1904 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CD2AP | NPHS1 | O60500 | 999 |
| CD2AP | NPHS2 | Q9NP85 | 999 |
| CD2AP | KIRREL1 | Q96J84 | 990 |
| CD2AP | TJP1 | Q07157 | 982 |
| CD2AP | SYNPO | Q8N3V7 | 962 |
| CD2AP | CD2 | P06729 | 948 |
| CD2AP | ACTN4 | O43707 | 939 |
| CD2AP | CTTN | Q14247 | 933 |
| CD2AP | INF2 | Q27J81 | 925 |
| CD2AP | PLCE1 | Q9P212 | 913 |
| CD2AP | CBL | P22681 | 910 |
| CD2AP | HCLS1 | P14317 | 904 |
| CD2AP | TRPC6 | Q9Y210 | 903 |
| CD2AP | KIRREL3 | Q8IZU9 | 900 |
| CD2AP | ABCA7 | Q8IZY2 | 883 |
IntAct
185 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MED4 | MED19 | psi-mi:“MI:2364”(proximity) | 0.900 |
| SGF29 | NDC80 | psi-mi:“MI:0914”(association) | 0.840 |
| CD2 | CD2AP | psi-mi:“MI:0915”(physical association) | 0.800 |
| CBL | CD2AP | psi-mi:“MI:0915”(physical association) | 0.800 |
| CD2AP | CBL | psi-mi:“MI:0914”(association) | 0.800 |
| CBL | CD2AP | psi-mi:“MI:0407”(direct interaction) | 0.800 |
| CD2AP | CBL | psi-mi:“MI:0915”(physical association) | 0.800 |
| CD2AP | CD2 | psi-mi:“MI:0407”(direct interaction) | 0.800 |
| CD2 | CD2AP | psi-mi:“MI:0407”(direct interaction) | 0.800 |
| INO80E | TFPT | psi-mi:“MI:0914”(association) | 0.790 |
| CAPZA1 | CAPZB | psi-mi:“MI:0915”(physical association) | 0.750 |
| CAPZA1 | CAPZB | psi-mi:“MI:0407”(direct interaction) | 0.750 |
| CBLB | CD2AP | psi-mi:“MI:0915”(physical association) | 0.750 |
| CD2AP | CBLB | psi-mi:“MI:0914”(association) | 0.750 |
| CBLB | CD2AP | psi-mi:“MI:0407”(direct interaction) | 0.750 |
| CD2AP | CBLB | psi-mi:“MI:0407”(direct interaction) | 0.750 |
BioGRID (319): CD2AP (Affinity Capture-Western), CD2AP (Biochemical Activity), CD2AP (Affinity Capture-MS), CD2AP (Affinity Capture-MS), CD2AP (Affinity Capture-MS), CD2AP (Affinity Capture-MS), CD2AP (Co-crystal Structure), CD2AP (Co-crystal Structure), CD2AP (Reconstituted Complex), CD2 (Reconstituted Complex), CBLB (Reconstituted Complex), CD2AP (Co-fractionation), CD2AP (Co-fractionation), CD2AP (Co-fractionation), CD2AP (Co-fractionation)
ESM2 similar proteins: A6QP06, A7KAX9, F1LRS8, F1QIC4, G5EBZ8, O18195, O42287, O43432, O43491, O60237, O75167, O76337, O82171, O94519, O97902, P11171, P11434, P34416, P41110, P41993, P48820, Q09459, Q15811, Q1AAU6, Q501J7, Q52KW0, Q5HYK7, Q5M775, Q5RAU1, Q5RDE1, Q69ZW3, Q6NZJ6, Q801E2, Q8BG95, Q8IZ21, Q8R550, Q91X43, Q925Q9, Q96B97, Q9HCH5
Diamond homologs: A0JNJ1, A1CEK6, A1DFN5, A2QW93, A4RF61, A6QLK6, A7A261, F1LRS8, O35179, O35964, O43307, O74749, O75791, O75886, O88811, O89100, O93436, P02549, P07751, P09215, P09216, P10830, P13395, P16054, P16086, P16546, P23298, P24723, P28867, P29355, P32793, P34885, P38753, P43603, P53281, P62993, P62994, P70297, P87379, P97306
SIGNOR signaling
4 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| E2F1 | “up-regulates quantity by expression” | CD2AP | “transcriptional regulation” |
| FAM83G | “up-regulates activity” | CD2AP | binding |
| CD2AP | “up-regulates quantity” | F-actin_assembly | binding |
| CD2AP | “up-regulates activity” | ACTB | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 159 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 |
|---|---|---|---|
| Regulation of KIT signaling | 5 | 26.8× | 7e-05 |
| Regulation of signaling by CBL | 6 | 26.6× | 3e-05 |
| Antigen activates B Cell Receptor (BCR) leading to generation of second messengers | 6 | 19.1× | 6e-05 |
| Signaling by CSF1 (M-CSF) in myeloid cells | 6 | 18.5× | 6e-05 |
| DAP12 signaling | 5 | 16.4× | 5e-04 |
| Signaling by SCF-KIT | 6 | 13.3× | 3e-04 |
| RHOQ GTPase cycle | 6 | 9.7× | 1e-03 |
| Golgi-to-ER retrograde transport | 8 | 9.5× | 1e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of epidermal growth factor receptor signaling pathway | 5 | 26.6× | 1e-03 |
| B cell receptor signaling pathway | 5 | 13.9× | 8e-03 |
| ephrin receptor signaling pathway | 5 | 11.9× | 9e-03 |
| regulation of embryonic development | 5 | 11.5× | 9e-03 |
| regulation of actin cytoskeleton organization | 7 | 7.7× | 8e-03 |
| regulation of small GTPase mediated signal transduction | 7 | 7.0× | 9e-03 |
| regulation of cell cycle | 10 | 5.2× | 8e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
464 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 9 |
| Likely pathogenic | 10 |
| Uncertain significance | 245 |
| Likely benign | 88 |
| Benign | 56 |
Top pathogenic / likely-pathogenic (19)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1179195 | NM_012120.3(CD2AP):c.1742dup (p.Asn581fs) | Pathogenic |
| 2052128 | NM_012120.3(CD2AP):c.1386_1387del (p.Ser463fs) | Pathogenic |
| 2425759 | NC_000006.11:g.(?47471016)(47471176_?)del | Pathogenic |
| 3246214 | NC_000006.11:g.(?47564630)(47567630_?)del | Pathogenic |
| 3639749 | NM_012120.3(CD2AP):c.494del (p.Glu164_Leu165insTer) | Pathogenic |
| 4734644 | NM_012120.3(CD2AP):c.301del (p.Thr101fs) | Pathogenic |
| 4771695 | NM_012120.3(CD2AP):c.1742del (p.Asn581fs) | Pathogenic |
| 522522 | NM_012120.3(CD2AP):c.1045+1G>A | Pathogenic |
| 5703 | NM_012120.3(CD2AP):c.730-1_730delinsCT | Pathogenic |
| 1179189 | NM_012120.3(CD2AP):c.250C>T (p.Arg84Ter) | Likely pathogenic |
| 2633510 | NM_012120.3(CD2AP):c.1193_1196del (p.Ala398fs) | Likely pathogenic |
| 3065595 | NM_012120.3(CD2AP):c.30T>G (p.Tyr10Ter) | Likely pathogenic |
| 3066210 | NM_012120.3(CD2AP):c.1108+1G>T | Likely pathogenic |
| 3593667 | NM_012120.3(CD2AP):c.298C>T (p.Gln100Ter) | Likely pathogenic |
| 3593683 | NM_012120.3(CD2AP):c.865_868del (p.Thr289fs) | Likely pathogenic |
| 3593685 | NM_012120.3(CD2AP):c.865del (p.Thr289fs) | Likely pathogenic |
| 4081232 | NM_012120.3(CD2AP):c.720dup (p.Pro241fs) | Likely pathogenic |
| 4292755 | NM_012120.3(CD2AP):c.330_334del (p.Arg111fs) | Likely pathogenic |
| 4845711 | NM_012120.3(CD2AP):c.764del (p.Gln255fs) | Likely pathogenic |
SpliceAI
4158 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:47503276:TTAG:T | acceptor_loss | 1.0000 |
| 6:47503277:TAG:T | acceptor_loss | 1.0000 |
| 6:47503278:A:AC | acceptor_loss | 1.0000 |
| 6:47503278:A:AG | acceptor_gain | 1.0000 |
| 6:47503278:AGTT:A | acceptor_gain | 1.0000 |
| 6:47503279:G:GG | acceptor_gain | 1.0000 |
| 6:47503279:GT:G | acceptor_gain | 1.0000 |
| 6:47503279:GTT:G | acceptor_gain | 1.0000 |
| 6:47503279:GTTG:G | acceptor_gain | 1.0000 |
| 6:47503279:GTTGA:G | acceptor_gain | 1.0000 |
| 6:47503436:TTAAG:T | donor_gain | 1.0000 |
| 6:47503437:TAAG:T | donor_gain | 1.0000 |
| 6:47503438:AAG:A | donor_gain | 1.0000 |
| 6:47503439:AG:A | donor_gain | 1.0000 |
| 6:47503439:AGGTA:A | donor_loss | 1.0000 |
| 6:47503440:GG:G | donor_gain | 1.0000 |
| 6:47503441:G:GG | donor_gain | 1.0000 |
| 6:47503441:GTAA:G | donor_loss | 1.0000 |
| 6:47526741:G:GG | donor_gain | 1.0000 |
| 6:47531417:T:TA | acceptor_gain | 1.0000 |
| 6:47531418:G:A | acceptor_gain | 1.0000 |
| 6:47533597:T:TA | acceptor_gain | 1.0000 |
| 6:47533597:TGTA:T | acceptor_loss | 1.0000 |
| 6:47533597:TGTAG:T | acceptor_gain | 1.0000 |
| 6:47533598:GTA:G | acceptor_loss | 1.0000 |
| 6:47533598:GTAGG:G | acceptor_gain | 1.0000 |
| 6:47533600:A:AC | acceptor_loss | 1.0000 |
| 6:47533600:A:AG | acceptor_gain | 1.0000 |
| 6:47533600:AG:A | acceptor_gain | 1.0000 |
| 6:47533601:G:A | acceptor_gain | 1.0000 |
AlphaMissense
4168 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:47503421:T:C | F49S | 1.000 |
| 6:47503436:T:A | V54D | 1.000 |
| 6:47503328:T:C | L18S | 0.999 |
| 6:47503384:T:A | W37R | 0.999 |
| 6:47503384:T:C | W37R | 0.999 |
| 6:47503386:G:C | W37C | 0.999 |
| 6:47503386:G:T | W37C | 0.999 |
| 6:47503388:T:C | L38P | 0.999 |
| 6:47503393:G:A | G40R | 0.999 |
| 6:47503393:G:C | G40R | 0.999 |
| 6:47503394:G:A | G40E | 0.999 |
| 6:47503432:T:C | F53L | 0.999 |
| 6:47503434:C:A | F53L | 0.999 |
| 6:47503434:C:G | F53L | 0.999 |
| 6:47544672:T:C | L129P | 0.999 |
| 6:47554658:T:A | W145R | 0.999 |
| 6:47554658:T:C | W145R | 0.999 |
| 6:47554660:G:C | W145C | 0.999 |
| 6:47554660:G:T | W145C | 0.999 |
| 6:47554668:G:A | G148E | 0.999 |
| 6:47554695:T:C | F157S | 0.999 |
| 6:47579440:T:C | F320S | 0.999 |
| 6:47606226:A:C | R493S | 0.999 |
| 6:47606226:A:T | R493S | 0.999 |
| 6:47503352:T:A | I26N | 0.998 |
| 6:47503415:G:A | G47E | 0.998 |
| 6:47503423:C:A | P50T | 0.998 |
| 6:47503423:C:T | P50S | 0.998 |
| 6:47503424:C:A | P50H | 0.998 |
| 6:47544666:T:C | L127P | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000017010 (6:47625642 T>C), RS1000021512 (6:47533096 A>G,T), RS1000067858 (6:47622677 A>T), RS1000071154 (6:47539722 G>A), RS1000073778 (6:47579938 A>G), RS1000085230 (6:47575886 A>C), RS1000096046 (6:47579138 G>A), RS1000101097 (6:47562496 T>A), RS1000113981 (6:47490637 T>C), RS1000116415 (6:47510321 C>A), RS1000121509 (6:47622447 C>A), RS1000130009 (6:47619084 T>G), RS1000131875 (6:47533860 C>T), RS1000182565 (6:47552847 C>G), RS1000196792 (6:47559830 G>A,T)
Disease associations
OMIM: gene MIM:604241 | disease phenotypes: MIM:607832, MIM:603278
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| focal segmental glomerulosclerosis 3, susceptibility to | Strong | Autosomal dominant |
| familial idiopathic steroid-resistant nephrotic syndrome | Supportive | Autosomal dominant |
ClinGen Gene-Disease Validity (2)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| inherited focal segmental glomerulosclerosis | Moderate | AD |
| focal segmental glomerulosclerosis 3, susceptibility to | Definitive | AR |
Mondo (6): focal segmental glomerulosclerosis 3, susceptibility to (MONDO:0011917), inherited focal segmental glomerulosclerosis (MONDO:0005363), focal segmental glomerulosclerosis (MONDO:0100313), prostate cancer (MONDO:0008315), kidney disorder (MONDO:0005240), familial idiopathic steroid-resistant nephrotic syndrome (MONDO:0019006)
Orphanet (2): Hereditary steroid-resistant nephrotic syndrome (Orphanet:656), Familial prostate cancer (Orphanet:1331)
HPO phenotypes
20 total (20 of 20 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000083 | Renal insufficiency |
| HP:0000093 | Proteinuria |
| HP:0000097 | Focal segmental glomerulosclerosis |
| HP:0000707 | Abnormality of the nervous system |
| HP:0000737 | Irritability |
| HP:0000790 | Hematuria |
| HP:0000822 | Hypertension |
| HP:0000969 | Edema |
| HP:0001945 | Fever |
| HP:0001967 | Diffuse mesangial sclerosis |
| HP:0002027 | Abdominal pain |
| HP:0002315 | Headache |
| HP:0002586 | Peritonitis |
| HP:0003073 | Hypoalbuminemia |
| HP:0003774 | Stage 5 chronic kidney disease |
| HP:0011947 | Respiratory tract infection |
| HP:0012579 | Minimal change glomerulonephritis |
| HP:0012622 | Chronic kidney disease |
| HP:0031504 | Foamy urine |
| HP:0100539 | Periorbital edema |
GWAS associations
22 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001026_7 | Alzheimer’s disease (late onset) | 9.000000e-09 |
| GCST002245_7 | Alzheimer’s disease (late onset) | 5.000000e-11 |
| GCST002337_129 | Amyotrophic lateral sclerosis (sporadic) | 5.000000e-06 |
| GCST003157_1 | Plasma homocysteine levels | 5.000000e-08 |
| GCST004611_61 | High light scatter reticulocyte count | 7.000000e-18 |
| GCST004612_22 | High light scatter reticulocyte percentage of red cells | 5.000000e-17 |
| GCST004619_50 | Reticulocyte fraction of red cells | 2.000000e-11 |
| GCST004621_103 | Red cell distribution width | 4.000000e-15 |
| GCST004622_195 | Reticulocyte count | 7.000000e-12 |
| GCST004628_83 | Immature fraction of reticulocytes | 1.000000e-17 |
| GCST007319_30 | Alzheimer’s disease (late onset) | 7.000000e-08 |
| GCST007319_5 | Alzheimer’s disease (late onset) | 5.000000e-09 |
| GCST007320_1 | Alzheimer’s disease or family history of Alzheimer’s disease | 3.000000e-10 |
| GCST007320_96 | Alzheimer’s disease or family history of Alzheimer’s disease | 1.000000e-08 |
| GCST007321_6 | Family history of Alzheimer’s disease | 8.000000e-06 |
| GCST009021_15 | Alzheimer’s disease | 5.000000e-09 |
| GCST009391_1790 | Metabolite levels | 9.000000e-06 |
| GCST012490_346 | Femur bone mineral density x serum urate levels interaction | 1.000000e-13 |
| GCST90002387_284 | Immature fraction of reticulocytes | 9.000000e-37 |
| GCST90002397_148 | Mean spheric corpuscular volume | 3.000000e-12 |
| GCST90002404_262 | Red cell distribution width | 1.000000e-31 |
| GCST90020028_598 | Hip circumference adjusted for BMI | 8.000000e-12 |
EFO canonical traits (9, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004578 | homocysteine measurement |
| EFO:0007986 | reticulocyte count |
| EFO:0009188 | Red cell distribution width |
| EFO:0009268 | family history of Alzheimer’s disease |
| EFO:0004468 | glucose measurement |
| EFO:0010477 | fructose measurement |
| EFO:0010481 | galactose measurement |
| EFO:0004531 | urate measurement |
| EFO:0008039 | BMI-adjusted hip circumference |
MeSH disease descriptors (3)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D005923 | Glomerulosclerosis, Focal Segmental | C12.050.351.968.419.570.363.640; C12.200.777.419.570.363.660; C12.950.419.570.363.640 |
| D007674 | Kidney Diseases | C12.050.351.968.419; C12.200.777.419; C12.950.419 |
| 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: yes
ChEMBL targets (1): CHEMBL5465369 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| perfluorooctane sulfonic acid | decreases expression | 2 |
| Acetaminophen | decreases expression | 2 |
| Arsenic | increases expression, affects methylation, increases abundance | 2 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | decreases sumoylation | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases expression | 1 |
| sodium arsenate | decreases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| sodium arsenite | increases abundance, increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| potassium chromate(VI) | decreases expression, affects cotreatment | 1 |
| epigallocatechin gallate | decreases expression, affects cotreatment | 1 |
| K 7174 | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | decreases expression, affects cotreatment | 1 |
| jinfukang | decreases expression | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Air Pollutants, Occupational | affects expression | 1 |
| Caffeine | increases phosphorylation | 1 |
| Carbamazepine | affects expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Ivermectin | decreases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Quercetin | decreases phosphorylation | 1 |
| Ribonucleotides | affects binding | 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 |
|---|---|---|---|
| CHEMBL5338441 | Binding | Binding affinity to Cd2ap (unknown origin) at 200 uM preincubated for 2 hrs followed by pronase addition and measured after 30 mins by coomassie blue staining based SDS-PAGE gel analysis | Structurally Diverse Alkaloids with Anti-Renal-Fibrosis Activity from the Centipede Scolopendra subspinipes mutilans. — J Nat Prod |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT01129557 | PHASE4 | TERMINATED | Aldosterone Breakthrough During Diovan, Tekturna, and Combination Therapy in Patients With Proteinuric Kidney Disease |
| NCT02399462 | PHASE4 | WITHDRAWN | Acthar for Treatment of Post-transplant FSGS |
| NCT02585804 | PHASE4 | COMPLETED | Treating to Reduce Albuminuria and Normalize Hemodynamic Function in Focal ScLerosis With dApagliflozin Trial Effects |
| NCT02633046 | PHASE4 | COMPLETED | Acthar for Treatment-Resistant or Treatment-Intolerant Proteinuria |
| NCT07219121 | PHASE4 | RECRUITING | Sparsentan in Posttransplant Immunoglobulin A Nephropathy or Focal Segmental Glomerulosclerosis |
| 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 |
Related Atlas pages
- Associated diseases: focal segmental glomerulosclerosis 3, susceptibility to, familial idiopathic steroid-resistant nephrotic syndrome, inherited focal segmental glomerulosclerosis
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Alzheimer disease, familial idiopathic steroid-resistant nephrotic syndrome, focal segmental glomerulosclerosis, focal segmental glomerulosclerosis 3, susceptibility to, inherited focal segmental glomerulosclerosis, kidney disorder, sporadic amyotrophic lateral sclerosis