DISC2

Chr 1AD

disrupted in schizophrenia 2

Also known as: DISC1-AS1, DISC1OS, NCRNA00015

DISC2 is thought to specify a noncoding RNA molecule antisense to DISC1 (MIM 605210). Both genes were found to be disrupted by a translocation in a large schizophrenia (MIM 181500) kindred.[supplied by OMIM, Jul 2002]

Primary Disease Associations & Inheritance

SchizophreniaMIM #181500
AD
0
Active trials
37
Pathogenic / LP
56
ClinVar variants
1
Pubs (1 yr)
Missense Z
LOEUF
Clinical SummaryDISC2
📋
ClinVar Variants
37 Pathogenic / Likely Pathogenic· 17 VUS of 56 total submissions
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/DISC2?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

56 submitted variants in ClinVar

Classification Summary

Pathogenic35
Likely Pathogenic2
VUS17
Likely Benign2
35
Pathogenic
2
Likely Pathogenic
17
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
35
0
35
Likely Pathogenic
0
0
2
0
2
VUS
0
8
9
0
17
Likely Benign
0
1
0
1
2
Benign
0
0
0
0
0
Total0946156

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

DISC2 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC