Developmental and epileptic encephalopathy, 82

disease

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Also known as DEE82developmental and epileptic encephalopathy 82EIEE82EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82

Summary

Developmental and epileptic encephalopathy, 82 (MONDO:0032880) is a disease caused by GOT2 (GenCC Strong), with 1 cohort gene.

At a glance

Causal gene: GOT2 (GenCC Strong)
Cohort genes: 1
ClinVar variants: 17

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	developmental and epileptic encephalopathy, 82
Mondo ID	MONDO:0032880
OMIM	618721
DOID	DOID:0080715
UMLS	C5231473
MedGen	1684694
GARD	0025765
Is cancer (heuristic)	no

Also known as: DEE82 · developmental and epileptic encephalopathy 82 · EIEE82 · EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82 · epileptic encephalopathy, early infantile, 82

Data availability: 17 ClinVar variants · 4 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › hereditary neurological disease › Mendelian neurodevelopmental disorder › genetic developmental and epileptic encephalopathy › developmental and epileptic encephalopathy, 82

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

17 retrieved; paginated sample, class counts are floors:

9 uncertain significance, 4 benign, 4 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
691278	NM_002080.4(GOT2):c.618TCT[2] (p.Leu209del)	GOT2	Likely pathogenic	criteria provided, single submitter
691279	NM_002080.4(GOT2):c.1009C>G (p.Arg337Gly)	GOT2	Likely pathogenic	criteria provided, single submitter
691280	NM_002080.4(GOT2):c.784C>G (p.Arg262Gly)	GOT2	Likely pathogenic	criteria provided, multiple submitters, no conflicts
691281	NM_002080.4(GOT2):c.1097G>T (p.Gly366Val)	GOT2	Likely pathogenic	criteria provided, multiple submitters, no conflicts
1390821	NM_002080.4(GOT2):c.589G>A (p.Asp197Asn)	GOT2	Uncertain significance	criteria provided, multiple submitters, no conflicts
1709516	NM_002080.4(GOT2):c.722T>G (p.Phe241Cys)	GOT2	Uncertain significance	criteria provided, single submitter
2072201	NM_002080.4(GOT2):c.265G>T (p.Ala89Ser)	GOT2	Uncertain significance	criteria provided, multiple submitters, no conflicts
2169801	NM_002080.4(GOT2):c.233C>T (p.Pro78Leu)	GOT2	Uncertain significance	criteria provided, multiple submitters, no conflicts
2441781	NM_002080.4(GOT2):c.1256G>A (p.Gly419Asp)	GOT2	Uncertain significance	criteria provided, single submitter
2570660	NM_002080.4(GOT2):c.569A>T (p.Asp190Val)	GOT2	Uncertain significance	criteria provided, multiple submitters, no conflicts
2570661	NM_002080.4(GOT2):c.1084C>T (p.Leu362Phe)	GOT2	Uncertain significance	criteria provided, multiple submitters, no conflicts
2689143	NM_002080.4(GOT2):c.880G>C (p.Val294Leu)	GOT2	Uncertain significance	criteria provided, multiple submitters, no conflicts
3068034	NM_002080.4(GOT2):c.1048C>T (p.Arg350Cys)	GOT2	Uncertain significance	criteria provided, single submitter
1285299	NM_002080.4(GOT2):c.1037T>G (p.Val346Gly)	GOT2	Benign	criteria provided, multiple submitters, no conflicts
1285300	NM_002080.4(GOT2):c.816C>T (p.Cys272=)	GOT2	Benign	criteria provided, multiple submitters, no conflicts
1285301	NM_002080.4(GOT2):c.228T>G (p.Val76=)	GOT2	Benign	criteria provided, multiple submitters, no conflicts
1285302	NM_002080.4(GOT2):c.213T>C (p.Asn71=)	GOT2	Benign	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 4 · Orphanet: 0 · 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
GOT2	Strong	Autosomal recessive	developmental and epileptic encephalopathy, 82	4

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
GOT2	HGNC:4433	ENSG00000125166	P00505	Aspartate aminotransferase, mitochondrial	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
GOT2	Aspartate aminotransferase, mitochondrial	Catalyzes the irreversible transamination of the L-tryptophan metabolite L-kynurenine to form kynurenic acid (KA).

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

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
Enzyme (other)	1	12.0×	0.083

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
GOT2	Enzyme (other)	yes	2.6.1.1	Asp_trans, NHTrfase_class1_PyrdxlP-BS, Aminotransferase_I/II_large

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
heart left ventricle	1
hindlimb stylopod muscle	1
left ventricle myocardium	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
GOT2	295	ubiquitous	marker	hindlimb stylopod muscle, left ventricle myocardium, heart left ventricle

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
GOT2	4,357

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
GOT2	P00505	3

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 10. 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
Malate-aspartate shuttle	1	1268.9×	0.003	GOT2
Aspartate and asparagine metabolism	1	1038.2×	0.003	GOT2
Degradation of cysteine and homocysteine	1	951.7×	0.003	GOT2
Glutamate and glutamine metabolism	1	815.7×	0.003	GOT2
Glyoxylate metabolism and glycine degradation	1	761.3×	0.003	GOT2
Sulfur amino acid metabolism	1	571.0×	0.003	GOT2
Respiratory electron transport	1	95.2×	0.014	GOT2
Aerobic respiration and respiratory electron transport	1	88.5×	0.014	GOT2
Metabolism of amino acids and derivatives	1	67.6×	0.016	GOT2
Metabolism	1	11.6×	0.086	GOT2

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
obsolete L-glutamate catabolic process to aspartate	1	8426.0×	7e-04	GOT2
L-aspartate biosynthetic process	1	5617.3×	7e-04	GOT2
L-aspartate catabolic process	1	5617.3×	7e-04	GOT2
trans-4-hydroxy-L-proline catabolic process	1	3370.4×	8e-04	GOT2
aspartate metabolic process	1	2106.5×	1e-03	GOT2
malate-aspartate shuttle	1	1872.4×	1e-03	GOT2
oxaloacetate metabolic process	1	1532.0×	0.001	GOT2
glutamate metabolic process	1	1123.5×	0.001	GOT2
2-oxoglutarate metabolic process	1	936.2×	0.001	GOT2
fatty acid transport	1	624.1×	0.002	GOT2
response to ethanol	1	146.5×	0.007	GOT2

Therapeutics

Drug target analysis

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

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
GOT2	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

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

Symbol	Assays	Type breakdown
GOT2	4	Binding:4

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
GOT2	2.6.1.1	aspartate transaminase

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	1	GOT2
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	0

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)
GOT2	4	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: GOT2