DISC1

Chr 1

DISC1 scaffold protein

Also known as: C1orf136, SCZD9

NCBI Gene: 27185ENSG00000162946UniProt: Q9NRI5OMIM: 605210

This protein regulates multiple aspects of embryonic and adult neurogenesis, including neural progenitor proliferation, neuron migration, and microtubule network formation. Mutations cause susceptibility to schizophrenia, with the gene originally identified through a translocation segregating with schizophrenia and related psychiatric disorders in a large Scottish family. The gene shows extremely high constraint against loss-of-function variants (pLI near 1.0), indicating that complete loss of function is likely incompatible with normal development.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOEUF 0.791 OMIM phenotype
Clinical Summary— DISC1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.79LOEUF
pLI 0.000
Z-score 2.42
OE 0.50 (0.33–0.79)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.41Z-score
OE missense 0.94 (0.86–1.03)
369 obs / 391.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.50 (0.33–0.79)
0≤0.351.4
Missense OE0.94 (0.86–1.03)
0≤0.61.4
Synonymous OE0.91
0≤1.21.6
LoF obs/exp: 14 / 27.7Missense obs/exp: 369 / 391.9Syn Z: 0.93

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DISC1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
The schizophrenia associated protein DISC1 forms a multivalent tetrameric hub via conserved UVR dimers.
Zhou JC et al.·Nat Commun
2026
Nociceptive stimulation activates NR2B-mediated DISC1/GSK-3β and ERK/CREB signaling alleviates sevoflurane induced neurotoxicity in neonatal rats.
Yang TT et al.·Neurotoxicology
2026
Cytomegalovirus-encoded immediate early 1 protein perturbs neural progenitor proliferation via interfering with host PML-DISC1 interaction.
Saito A et al.·J Biol Chem
2026Open Access
Pharmacological rescue of social deficits in rats featuring Disrupted-in-Schizophrenia-1 (DISC1) protein aggregation.
Dören J et al.·Schizophrenia (Heidelb)
2026Open Access
GluN2B-specific NMDAR positive allosteric modulation reverses cognitive and behavioral abnormalities in Mecp2 and Disc1 transgenic mice.
Ge Y et al.·Sci Adv
2026Open Access
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients