FB2026_02 , released June 18, 2026
Human Disease Model Report: schizophrenia 9
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General Information
Name
schizophrenia 9
FlyBase ID
FBhh0000529
Disease Ontology Term
Parent Disease
Overview

The human gene DISC1 has been identified as a susceptibility locus for schizophrenia (schizophrenia 9, SCZD9). DISC1 encodes a protein that has some of the characteristics of a scaffold protein; it associates with diverse binding partners and is involved in the regulation of multiple aspects of embryonic and adult neurogenesis. No orthologous gene has been identified in Drosophila.

Multiple UAS constructs of the human Hsap\DISC1 gene have been introduced into flies, including wild-type and a series of truncated or internally deleted forms. The wild-type protein localizes to diverse subcellular domains of developing fly neurons including the nuclei, axons and dendrites. Overexpression of DISC1 causes associative memory and neuroanatomy defects.

DISC1 is one of a number of genes in human that have been implicated in both autism spectrum disorder and schizophrenia. See the human disease model report 'autism co-occurence with schizophrenia' (FBhh0001356).

[updated Jul. 2021 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: schizophrenia, susceptibility to
Symptoms and phenotype

See also 'Schizophrenia: Symptoms, causes, and treatments' (http://www.medicalnewstoday.com/articles/36942.php).

Schizophrenia is a psychosis, a disorder of thought and sense of self. Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Schizophrenia often develops in young adults who were previously normal, and is characterized by a constellation of symptoms including hallucinations and delusions (psychotic symptoms) and symptoms such as severely inappropriate emotional responses, disordered thinking and concentration, erratic behavior, as well as social and occupational deterioration (Andreasen, 1995; pubmed:7637483). [from MIM:181500; 2017.04.18]

Specific Disease Summary: schizophrenia 9
OMIM report

[SCHIZOPHRENIA 9; SCZD9](https://omim.org/entry/604906)

Human gene(s) implicated

[DISC1 SCAFFOLD PROTEIN; DISC1](https://omim.org/entry/605210)

Symptoms and phenotype
Genetics

DISC1 is disrupted in a translocation which segregates with schizophrenia and related psychiatric disorders in a large Scottish family. [Gene Cards, DISC1; 2017.04.18]

Schizophrenia 9 has been associated with polymorphism in the DISC1 gene. A transgenic mouse model expressing a dominant-negative truncated form of Disc1 has been described as a model for schizophrenia (Hikida et al., 2007; pubmed:17675407) [from MIM:604906; 2017.04.18]

Cellular phenotype and pathology
Molecular information

DISC1 regulates multiple aspects of embryonic and adult neurogenesis (Kim et al., 2009; pubmed:19778506). [from MIM:605210; 2017.04.18]

The DISC1 gene is involved in the regulation of multiple aspects of embryonic and adult neurogenesis. It encodes a protein with multiple coiled-coil motifs which is located in the nucleus, cytoplasm and mitochondria. The protein is involved in neurite outgrowth and cortical development, interacting with multiple proteins and protein complexes. [Gene Cards, DISC1; 2017.04.18]

The DISC1 protein has many, but not all, of the characteristics of a scaffold protein; it binds to a wide array of proteins from interrelated signaling cascades, including those of importance for neurodevelopment (Yerabham et al., 2013; pubmed:23832957).

External links
Disease synonyms
schizophrenia 9
schizophrenia, susceptibility to, DISC1-related
SCZD9
Ortholog Information
Human gene(s) in FlyBase
Human gene (HGNC)
D. melanogaster ortholog (based on DIOPT)
Comments on ortholog(s)

No orthologous gene has been identified in Drosophila.

Other mammalian ortholog(s) used
    D. melanogaster Gene Information (0)
    Other Genes Used: Viral, Bacterial, Synthetic (0)
      Summary of Physical Interactions (0 groups)
      Alleles Reported to Model Human Disease (Disease Ontology) (2 alleles)
      Models Based on Experimental Evidence ( 2 )
      Modifiers Based on Experimental Evidence ( 1 )
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      Contact lab of origin for a reagent not available from a public stock center.
      Bloomington Stock Center Disease Page
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      RNAi constructs available
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      Selected Drosophila classical alleles
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      References (15)