Teratocarcinoma

Summary

Teratocarcinoma (MONDO:0002599) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	teratocarcinoma
Mondo ID	MONDO:0002599
MeSH	D018243
DOID	DOID:3305
NCIT	C3756
UMLS	C0206664
MedGen	104913
GARD	0023183
Is cancer (heuristic)	no

Also known as: mixed embryonal carcinoma and teratoma · teratocarcinoma · teratocarcinoma (morphologic abnormality)

Data availability: 1 ClinVar variant · 2 cell lines.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › cancer › malignant germ cell tumor › mixed germ cell tumor › teratocarcinoma

Related subtypes (5): mixed extragonadal germ cell cancer, mixed testicular germ cell cancer, ovarian mixed germ cell neoplasm, mixed germ cell tumor of vulva, mixed teratoma and seminoma

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

1 retrieved; paginated sample, class counts are floors:

1 uncertain significance

ClinVar	Variant (HGVS)	Gene	Classification	Review
3238863	NM_001343.4(DAB2):c.538A>T (p.Lys180Ter)	DAB2	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

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

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
DAB2	HGNC:2662	ENSG00000153071	P98082	Disabled homolog 2	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
DAB2	Disabled homolog 2	Adapter protein that functions as a clathrin-associated sorting protein (CLASP) required for clathrin-mediated endocytosis of selected cargo proteins.

Protein-family classification

Druggable: 0 · Difficult: 0 · 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
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
DAB2	Other/Unknown	no		PTB/PI_dom, PH-like_dom_sf, DAB1/2_SBM

Expression context

Cohort genes with no expression data: 0.

1 cohort gene 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)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
caput epididymis	1
corpus epididymis	1
placenta	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
DAB2	282	ubiquitous	marker	caput epididymis, corpus epididymis, placenta

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
DAB2	2,744

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
DAB2	P98082	3

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 4. Enrichment computed across 1 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
Formation of annular gap junctions	1	1038.2×	0.002	DAB2
Gap junction degradation	1	951.7×	0.002	DAB2
Cargo recognition for clathrin-mediated endocytosis	1	104.8×	0.012	DAB2
Clathrin-mediated endocytosis	1	85.2×	0.012	DAB2

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
leading edge cell differentiation	1	8426.0×	0.002	DAB2
positive regulation of aldosterone biosynthetic process	1	5617.3×	0.002	DAB2
positive regulation of clathrin-dependent endocytosis	1	5617.3×	0.002	DAB2
positive regulation of aldosterone secretion	1	4213.0×	0.002	DAB2
response to salt	1	2106.5×	0.002	DAB2
positive regulation of Wnt signaling pathway, planar cell polarity pathway	1	1872.4×	0.002	DAB2
positive regulation of early endosome to late endosome transport	1	1872.4×	0.002	DAB2
negative regulation of androgen receptor signaling pathway	1	936.2×	0.004	DAB2
clathrin coat assembly	1	887.0×	0.004	DAB2
response to steroid hormone	1	842.6×	0.004	DAB2
positive regulation of endocytosis	1	802.5×	0.004	DAB2
negative regulation of protein localization to plasma membrane	1	624.1×	0.004	DAB2
positive regulation of SMAD protein signal transduction	1	383.0×	0.006	DAB2
positive regulation of substrate adhesion-dependent cell spreading	1	374.5×	0.006	DAB2
positive regulation of epithelial to mesenchymal transition	1	318.0×	0.006	DAB2
cellular response to epidermal growth factor stimulus	1	318.0×	0.006	DAB2
negative regulation of epithelial cell proliferation	1	290.6×	0.006	DAB2
negative regulation of neuron projection development	1	237.3×	0.007	DAB2
receptor-mediated endocytosis	1	221.7×	0.007	DAB2
negative regulation of ERK1 and ERK2 cascade	1	216.1×	0.007	DAB2
positive regulation of proteasomal ubiquitin-dependent protein catabolic process	1	210.7×	0.007	DAB2
transforming growth factor beta receptor signaling pathway	1	159.0×	0.009	DAB2
negative regulation of cell growth	1	144.0×	0.009	DAB2
negative regulation of canonical Wnt signaling pathway	1	117.8×	0.011	DAB2
Wnt signaling pathway	1	99.7×	0.012	DAB2
positive regulation of cell migration	1	61.7×	0.019	DAB2
protein transport	1	43.9×	0.026	DAB2
negative regulation of apoptotic process	1	34.8×	0.032	DAB2
apoptotic process	1	28.7×	0.037	DAB2
negative regulation of transcription by RNA polymerase II	1	17.7×	0.058	DAB2

Therapeutics

Drug target analysis

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

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
DAB2	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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	1	DAB2

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
DAB2	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.