Focal segmental glomerulosclerosis 3, susceptibility to

Summary

Focal segmental glomerulosclerosis 3, susceptibility to (MONDO:0011917) is a disease caused by CD2AP (GenCC Strong), with 2 cohort genes.

At a glance

• Causal gene: CD2AP (GenCC Strong)
• Cohort genes: 2
• ClinVar variants: 207

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	focal segmental glomerulosclerosis 3, susceptibility to
Mondo ID	MONDO:0011917
OMIM	607832
DOID	DOID:0112245
UMLS	C1842982
MedGen	335850
Is cancer (heuristic)	no

Also known as: CD2AP focal segmental glomerulosclerosis · focal segmental glomerulosclerosis 3, susceptibility to · focal segmental glomerulosclerosis caused by mutation in CD2AP · FSGS3 · glomerulosclerosis, focal segmental, 3

Data availability: 207 ClinVar variants · 2 GenCC gene-disease records.

Disease family

Classification path: disease susceptibility › inherited disease susceptibility › focal segmental glomerulosclerosis 3, susceptibility to

Related subtypes (283): microvascular complications of diabetes, susceptibility, Mycobacterium tuberculosis, susceptibility, bacteremia, susceptibility, pregnancy loss, recurrent, susceptibility, autoimmune thyroid disease, susceptibility to, susceptibility to HIV infection, appendicitis, proneness to, atherosclerosis susceptibility, multiple sclerosis, susceptibility to, dyslexia, susceptibility to, 1, endometriosis, susceptibility to, 1, osteoarthritis susceptibility 2, essential hypertension, genetic, osteoarthritis susceptibility 1, otitis media, susceptibility to, pelvic organ prolapse, susceptibility to, pulmonary edema of mountaineers, susceptibility to, sarcoidosis, susceptibility to, 1, strabismus, susceptibility to, thyrotoxic periodic paralysis, susceptibility to, 1, predisposition to invasive fungal disease due to CARD9 deficiency, celiac disease, susceptibility to, 1, hemolytic uremic syndrome, atypical, susceptibility to, 1, hypervitaminosis a, susceptibility to, kuru, susceptibility to, leprosy, susceptibility to, 3, nonarteritic anterior ischemic optic neuropathy, susceptibility to, diabetes mellitus, insulin-dependent, X-linked, susceptibility to, coronary heart disease, susceptibility to, 3, dyslexia, susceptibility to, 9, systemic lupus erythematosus, susceptibility to, 15, Leber optic atrophy, susceptibility to, dyslexia, susceptibility to, 2, Helicobacter pylori infection, susceptibility to, epilepsy, idiopathic generalized, susceptibility to, 1, inherited susceptibility to asthma, renal dysplasia, cystic, susceptibility to, systemic lupus erythematosus, susceptibility to, 1, leishmaniasis, tegumentary, susceptibility to, xanthomatosis, susceptibility to, hyperlipidemia, combined, 1, urinary tract infections, recurrent, susceptibility to, hypertension, essential, susceptibility to, 1, hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection, dyslexia, susceptibility to, 3, Ascaris lumbricoides infection, susceptibility to, hypertension, essential, susceptibility to, 2, epilepsy, idiopathic generalized, susceptibility to, 7, systemic lupus erythematosus, susceptibility to, 2, systemic lupus erythematosus, susceptibility to, 3, nephrolithiasis, uric acid, susceptibility to, atrioventricular septal defect, susceptibility to, 2, vitiligo-associated multiple autoimmune disease susceptibility 1, polysubstance abuse, susceptibility to, dyslexia, susceptibility to, 6, glaucoma, normal tension, susceptibility to, anorexia nervosa, susceptibility to, 1, stroke, susceptibility to, 1, dyslexia, susceptibility to, 5, epilepsy, idiopathic generalized, susceptibility to, 2, familial meningioma, celiac disease, susceptibility to, 5, systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1, hypertension, essential, susceptibility to, 3, coronary heart disease, susceptibility to, 1, bulimia nervosa, susceptibility to, 1, leprosy, susceptibility to, 2, epilepsy, idiopathic generalized, susceptibility to, 9, Parkinson disease 11, autosomal dominant, susceptibility to, autoimmune disease, susceptibility to, 1, osteoarthritis susceptibility 3, systemic lupus erythematosus with nephritis, susceptibility to, 1, systemic lupus erythematosus with nephritis, susceptibility to, 2, systemic lupus erythematosus with nephritis, susceptibility to, 3, coronary heart disease, susceptibility to, 2, coronary heart disease, susceptibility to, 4, autoimmune disease, susceptibility to, 2, autoimmune disease, susceptibility to, 3, systemic lupus erythematosus, susceptibility to, 4, myocardial infarction, susceptibility to, major depressive disorder 1, legionnaire disease, susceptibility to, myocardial infarction, susceptibility to, 2, major depressive disorder 2, hypertension, essential, susceptibility to, 4, epilepsy, idiopathic generalized, susceptibility to, 3, myoclonic epilepsy, juvenile, susceptibility to, 3, orofacial cleft 6, susceptibility to, coronary heart disease, susceptibility to, 5, attention deficit-hyperactivity disorder, susceptibility to, 1, attention deficit-hyperactivity disorder, susceptibility to, 2, attention deficit-hyperactivity disorder, susceptibility to, 3, attention deficit-hyperactivity disorder, susceptibility to, 4, Alzheimer disease 9, susceptibility to respiratory infections associated with CD8alpha chain mutation, dyslexia, susceptibility to, 8, autoimmune disease, susceptibility to, 4, hepatitis C virus, susceptibility to, epilepsy, idiopathic generalized, susceptibility to, 4, celiac disease, susceptibility to, 4, celiac disease, susceptibility to, 2, celiac disease, susceptibility to, 3, leprosy, susceptibility to, 1, systemic lupus erythematosus, susceptibility to, 5, systemic lupus erythematosus, susceptibility to, 6, opioid dependence, susceptibility to, 1, systemic lupus erythematosus, susceptibility to, 7, systemic lupus erythematosus, susceptibility to, 8, hypertension, essential, susceptibility to, 5, hypertension, essential, susceptibility to, 6, Parkinson disease 13, autosomal dominant, susceptibility to, West Nile virus, susceptibility to, hepatitis B virus, susceptibility to, Buruli ulcer, susceptibility to, osteoarthritis susceptibility 4, systemic lupus erythematosus, susceptibility to, 9, coronary heart disease, susceptibility to, 7, hypertension, essential, susceptibility to, 7, leprosy, susceptibility to, 4, hypertension, essential, susceptibility to, 8, epilepsy, idiopathic generalized, susceptibility to, 13, coronary heart disease, susceptibility to, 8, myoclonic epilepsy, juvenile, susceptibility to, 4, susceptibility to visceral leishmaniasis, 2, susceptibility to visceral leishmaniasis, 3, celiac disease, susceptibility to, 6, epilepsy, idiopathic generalized, susceptibility to, 5, epilepsy, childhood absence, susceptibility to, 6, celiac disease, susceptibility to, 7, celiac disease, susceptibility to, 8, celiac disease, susceptibility to, 9, celiac disease, susceptibility to, 10, celiac disease, susceptibility to, 11, celiac disease, susceptibility to, 12, celiac disease, susceptibility to, 13, coronary heart disease, susceptibility to, 9, systemic lupus erythematosus, susceptibility to, 10, systemic lupus erythematosus, susceptibility to, 11, systemic lupus erythematosus, susceptibility to, 12, epilepsy, childhood absence, susceptibility to, 5, attention deficit-hyperactivity disorder, susceptibility to, 5, attention deficit-hyperactivity disorder, susceptibility to, 6, systemic lupus erythematosus, susceptibility to, 13, sarcoidosis, susceptibility to, 2, sarcoidosis, susceptibility to, 3, osteoarthritis susceptibility 5, osteoarthritis susceptibility 6, focal segmental glomerulosclerosis 4, susceptibility to, epilepsy, idiopathic generalized, susceptibility to, 8, herpes simplex encephalitis, susceptibility to, 2, attention deficit-hyperactivity disorder, susceptibility to, 7, epilepsy, idiopathic generalized, susceptibility to, 10, pelvic organ prolapse, susceptibility to, 2, systemic lupus erythematosus, susceptibility to, 14, leprosy, susceptibility to, 5, thyrotoxic periodic paralysis, susceptibility to, 2, hearing loss, cisplatin-induced, susceptibility to, susceptibility to mononeuropathy of the median nerve, mild, fatty liver disease, nonalcoholic, susceptibility to, 2, leprosy, susceptibility to, 6, autoimmune disease, susceptibility to, 6, Parkinson disease 5, autosomal dominant, susceptibility to, aspergillosis, susceptibility to, sick sinus syndrome 3, susceptibility to, Parkinson disease 18, autosomal dominant, susceptibility to, epilepsy, juvenile myoclonic, susceptibility to, 9, dengue virus, susceptibility to, coronary heart disease, susceptibility to, 6, podoconiosis, susceptibility to, peripartum cardiomyopathy, susceptibility to, influenza, severe, susceptibility to, thyrotoxic periodic paralysis, susceptibility to, 3, human herpesvirus 8, susceptibility to, epilepsy, idiopathic generalized, susceptibility to, 12, herpes simplex encephalitis, susceptibility to, 3, herpes simplex encephalitis, susceptibility to, 4, pulmonary hypertension, neonatal, susceptibility to, craniosynostosis 5, susceptibility to, melioidosis, susceptibility to, chronic mountain sickness, susceptibility to, herpes simplex encephalitis, susceptibility to, 7, epilepsy, idiopathic generalized, susceptibility to, 14, hereditary neoplastic syndrome, autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency, autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency, susceptibility to localized juvenile periodontitis, inherited susceptibility to mycobacterial diseases, neural tube defects, susceptibility to, multiple system atrophy 1, susceptibility to, nephrolithiasis susceptibility caused by SLC26A1, myoclonic epilepsy, juvenile, susceptibility to, 1, epilepsy, childhood absence, susceptibility to, 1, autism, susceptiblity to, susceptibility to visceral leishmaniasis, 1, malaria, susceptibility to, spondyloarthropathy, susceptibility to, herpes simplex encephalitis, susceptibility to, 1, epilepsy, idiopathic generalized, susceptibility to, 18, epilepsy, idiopathic generalized, susceptibility to, 15, hepatitis, fulminant viral, susceptibility to, epilepsy, idiopathic generalized, susceptibility to, 16, autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency, aortic aneurysm, familial thoracic 11, susceptibility to, craniosynostosis 7, amyotrophic lateral sclerosis, susceptibility to, 24, amyotrophic lateral sclerosis, susceptibility to, 25, epilepsy, juvenile myoclonic, susceptibility to, 10, susceptibility to angioedema induced by ACE inhibitors, epidermodysplasia verruciformis, susceptibility to, exfoliation syndrome, susceptibility to, basal cell carcinoma, susceptibility to, graft-versus-host disease, susceptibility to, narcolepsy, susceptibility to, pulmonary disease, chronic obstructive, susceptibility to, restless legs syndrome, susceptibility to, psoriasis, susceptibility to, age related macular degeneration, susceptibility to, allergic rhinitis, susceptibility to, dermatitis, atopic, susceptibility to, Hirschsprung disease, susceptibility to, diabetes mellitus, ketosis-prone, schizophrenia, susceptibility to, radioulnar synostosis, nonsyndromic, susceptibility to, lumbar disk herniation, susceptibility to, lumbar disk degeneration, susceptibility to, psoriatic arthritis, susceptibility to, migraine with or without aura, susceptibility to, Alzheimer disease, susceptibility to, mitochondrial, Asperger syndrome, susceptibility to, tobacco addiction, susceptibility to, lipodystrophy, partial, acquired, susceptibility to, Graves disease, susceptibility to, 1, epilepsy, idiopathic generalized, susceptibility to, 17, breast-ovarian cancer, familial, susceptibility to, blepharospasm, benign essential, susceptibility to, hemorrhage, intracerebral, susceptibility to, IgA nephropathy, susceptibility to, hemolytic uremic syndrome, atypical, susceptibility to, 7, vitiligo-associated multiple autoimmune disease susceptibility 6, delayed sleep phase syndrome, susceptibility to, encephalitis, acute, infection-induced, susceptibility to, malignant hyperthermia, susceptibility to, multicentric Castleman disease, susceptibility to, pelvic organ prolapse, susceptibility to, 1, amyotrophic lateral sclerosis, susceptibility to, 13, Graves disease, susceptibility to, X-linked 2, autoimmune thyroid disease, susceptibility to, 5, atrioventricular septal defect, susceptibility to, 1, epilepsy, juvenile myoclonic, susceptibility to, 6, autoimmune disease, susceptibility to, 5, epilepsy, idiopathic generalized, susceptibility to, 6, seasonal affective disorder, susceptibility to, ventricular fibrillation during myocardial infarction, susceptibility to, UV-induced skin damage, susceptibility to, antisocial behavior, susceptibility to, aplastic anemia, susceptibility to, cardiomyopathy, familial hypertrophic, 4, susceptibility to, cirrhosis, noncryptogenic, susceptibility to, coronary artery disease, severe, susceptibility to, dengue fever, susceptibility to, dengue hemorrhagic fever, susceptibility to, dengue shock syndrome, susceptibility to, dyslexia, susceptibility to, 4, dyslexia, susceptibility to, 7, efavirenz central nervous system toxicity, susceptibility to, obesity, susceptibility to, bleeding disorder, platelet-type, 13, susceptibility to, Schistosoma mansoni infection, susceptibility/resistance to, Parkinson disease 24, autosomal dominant, susceptibility to, iron overload, susceptibility to, hydrocephalus, congenital, 5, susceptibility to, hearing loss, noise-induced, susceptibility to, hyperemesis gravidarum, susceptibility to, Parkinson disease 26, autosomal dominant, susceptibility to, epilepsy, idiopathic generalized, susceptibility to, 19, polycystic kidney disease 9, susceptibility to, rhabdomyolysis, susceptibility to, scoliosis, isolated, susceptibility to, dystonia 38, susceptibility to, gallbladder disease 4, epilepsy, juvenile absence, susceptibility to, GBA1-related Parkinson disease, susceptibility, SH2B3-related immune system disorder

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

207 retrieved; paginated sample, class counts are floors:

137 uncertain significance, 23 benign, 18 benign/likely benign, 9 likely pathogenic, 9 likely benign, 7 conflicting classifications of pathogenicity, 3 pathogenic, 1 pathogenic/likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
1179195	NM_012120.3(CD2AP):c.1742dup (p.Asn581fs)	CD2AP	Pathogenic	criteria provided, multiple submitters, no conflicts
522522	NM_012120.3(CD2AP):c.1045+1G>A	CD2AP	Pathogenic	no assertion criteria provided
5703	NM_012120.3(CD2AP):c.730-1_730delinsCT	CD2AP	Pathogenic	criteria provided, single submitter
931125	NM_012120.3(CD2AP):c.764dup (p.Ser256fs)	CD2AP	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1179189	NM_012120.3(CD2AP):c.250C>T (p.Arg84Ter)	CD2AP	Likely pathogenic	criteria provided, single submitter
3065595	NM_012120.3(CD2AP):c.30T>G (p.Tyr10Ter)	CD2AP	Likely pathogenic	criteria provided, single submitter
3066210	NM_012120.3(CD2AP):c.1108+1G>T	CD2AP	Likely pathogenic	criteria provided, single submitter
3593667	NM_012120.3(CD2AP):c.298C>T (p.Gln100Ter)	CD2AP	Likely pathogenic	criteria provided, single submitter
3593683	NM_012120.3(CD2AP):c.865_868del (p.Thr289fs)	CD2AP	Likely pathogenic	criteria provided, single submitter
3593685	NM_012120.3(CD2AP):c.865del (p.Thr289fs)	CD2AP	Likely pathogenic	criteria provided, single submitter
4081232	NM_012120.3(CD2AP):c.720dup (p.Pro241fs)	CD2AP	Likely pathogenic	criteria provided, single submitter
4292755	NM_012120.3(CD2AP):c.330_334del (p.Arg111fs)	CD2AP	Likely pathogenic	criteria provided, single submitter
4845711	NM_012120.3(CD2AP):c.764del (p.Gln255fs)	CD2AP	Likely pathogenic	criteria provided, single submitter
1116135	NM_012120.3(CD2AP):c.802A>T (p.Ile268Phe)	CD2AP	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
357169	NM_012120.3(CD2AP):c.553G>T (p.Ala185Ser)	CD2AP	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
357170	NM_012120.3(CD2AP):c.682C>T (p.Arg228Trp)	CD2AP	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
357171	NM_012120.3(CD2AP):c.992T>A (p.Leu331His)	CD2AP	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
3593703	NM_012120.3(CD2AP):c.1654C>T (p.Pro552Ser)	CD2AP	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
5704	NM_012120.3(CD2AP):c.1834C>T (p.Arg612Ter)	CD2AP	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
911544	NM_012120.3(CD2AP):c.452A>G (p.Asn151Ser)	CD2AP	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1017628	NM_012120.3(CD2AP):c.521A>C (p.His174Pro)	CD2AP	Uncertain significance	criteria provided, multiple submitters, no conflicts
1018891	NM_012120.3(CD2AP):c.1488G>A (p.Met496Ile)	CD2AP	Uncertain significance	criteria provided, multiple submitters, no conflicts
1027764	NM_012120.3(CD2AP):c.180_181del (p.Glu60fs)	CD2AP	Uncertain significance	criteria provided, single submitter
1352391	NM_012120.3(CD2AP):c.1756C>T (p.Leu586Phe)	CD2AP	Uncertain significance	criteria provided, multiple submitters, no conflicts
1357095	NM_012120.3(CD2AP):c.1711G>A (p.Ala571Thr)	CD2AP	Uncertain significance	criteria provided, multiple submitters, no conflicts
1413130	NM_012120.3(CD2AP):c.770T>C (p.Val257Ala)	CD2AP	Uncertain significance	criteria provided, multiple submitters, no conflicts
1422021	NM_012120.3(CD2AP):c.551T>C (p.Leu184Ser)	CD2AP	Uncertain significance	criteria provided, multiple submitters, no conflicts
1423128	NM_012120.3(CD2AP):c.1274+3A>G	CD2AP	Uncertain significance	criteria provided, multiple submitters, no conflicts
1472885	NM_012120.3(CD2AP):c.311T>A (p.Ile104Asn)	CD2AP	Uncertain significance	criteria provided, multiple submitters, no conflicts
1920097	NM_012120.3(CD2AP):c.1772T>C (p.Ile591Thr)	CD2AP	Uncertain significance	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 3 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
CD2AP	Strong	Autosomal dominant	focal segmental glomerulosclerosis 3, susceptibility to	3

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
CD2AP	Orphanet:656	Hereditary steroid-resistant nephrotic syndrome

Cohort genes → proteins

2 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	2

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
CD2AP	HGNC:14258	ENSG00000198087	Q9Y5K6	CD2-associated protein	gencc,clinvar
CD2AP-DT	HGNC:55263	ENSG00000270761		CD2AP divergent transcript	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
CD2AP	CD2-associated protein	Seems to act as an adapter protein between membrane proteins and the actin cytoskeleton.

Protein-family classification

Druggable: 0 · Difficult: 1 · Unknown: 1 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Scaffold/PPI	1	8.6×	0.225
Other/Unknown	1	0.9×	0.805

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
CD2AP	Scaffold/PPI	no		SH3_domain, CD2AP_SH3_1, CD2AP_SH_2
CD2AP-DT	Other/Unknown	no

Expression context

Cohort genes with no expression data: 0.

2 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	2
unknown	0

Top tissues across cohort

Tissue	Cohort genes
colonic mucosa	1
esophagus squamous epithelium	1
jejunal mucosa	1
male germ line stem cell (sensu Vertebrata) in testis	1
mucosa of transverse colon	1
primordial germ cell in gonad	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
CD2AP	275	ubiquitous	marker	jejunal mucosa, esophagus squamous epithelium, colonic mucosa
CD2AP-DT	128		marker	primordial germ cell in gonad, male germ line stem cell (sensu Vertebrata) in testis, mucosa of transverse colon

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
CD2AP	2,408
CD2AP-DT	0

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 1

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
CD2AP	Q9Y5K6	12

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 2. Enrichment computed across 2 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Nephrin family interactions	1	475.8×	0.004	CD2AP
Cell-Cell communication	1	137.6×	0.007	CD2AP

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
response to glial cell derived neurotrophic factor	1	8426.0×	0.003	CD2AP
transforming growth factor beta1 production	1	5617.3×	0.003	CD2AP
renal albumin absorption	1	3370.4×	0.003	CD2AP
negative regulation of transforming growth factor beta1 production	1	2808.7×	0.003	CD2AP
localization of cell	1	2808.7×	0.003	CD2AP
response to transforming growth factor beta	1	1872.4×	0.003	CD2AP
substrate-dependent cell migration, cell extension	1	1532.0×	0.003	CD2AP
podocyte differentiation	1	1404.3×	0.003	CD2AP
immunological synapse formation	1	1296.3×	0.003	CD2AP
endothelium development	1	1296.3×	0.003	CD2AP
nerve growth factor signaling pathway	1	1296.3×	0.003	CD2AP
collateral sprouting	1	1203.7×	0.003	CD2AP
negative regulation of small GTPase mediated signal transduction	1	1203.7×	0.003	CD2AP
neurotrophin TRK receptor signaling pathway	1	1053.2×	0.003	CD2AP
protein heterooligomerization	1	1053.2×	0.003	CD2AP
Rab protein signal transduction	1	991.3×	0.003	CD2AP
obsolete D-glucose import	1	842.6×	0.004	CD2AP
lymph node development	1	802.5×	0.004	CD2AP
stress-activated MAPK cascade	1	702.2×	0.004	CD2AP
filopodium assembly	1	648.1×	0.004	CD2AP
cell-cell junction organization	1	624.1×	0.004	CD2AP
membrane organization	1	510.7×	0.004	CD2AP
actin filament polymerization	1	481.5×	0.004	CD2AP
maintenance of blood-brain barrier	1	481.5×	0.004	CD2AP
cell-cell adhesion mediated by cadherin	1	411.0×	0.005	CD2AP
adipose tissue development	1	401.2×	0.005	CD2AP
positive regulation of protein localization to nucleus	1	391.9×	0.005	CD2AP
positive regulation of protein secretion	1	343.9×	0.005	CD2AP
ERK1 and ERK2 cascade	1	318.0×	0.006	CD2AP
synapse organization	1	280.9×	0.006	CD2AP

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 2

Druggability breadth: 1 of 2 evidence-associated genes (50%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
CD2AP	0	0
CD2AP-DT	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
CD2AP	1	Binding:1

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	2	CD2AP, CD2AP-DT

Undrugged target profiles

2 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
CD2AP	1	—
CD2AP-DT	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.