This gene 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 through its interaction with other proteins. This gene is disrupted in a t(1;11)(q42.1;q14.3) translocation which segregates with schizophrenia and related psychiatric disorders in a large... See more...

Aliases for DISC1 Gene

Aliases for DISC1 Gene

  • DISC1 Scaffold Protein 2 3 5
  • Disrupted In Schizophrenia 1 Protein 3 4
  • Disrupted In Schizophrenia 1 2
  • C1orf136 3
  • KIAA0457 4
  • SCZD9 3

External Ids for DISC1 Gene

Previous GeneCards Identifiers for DISC1 Gene

  • GC01P230208
  • GC01P227502
  • GC01P228235
  • GC01P228797
  • GC01P228069
  • GC01P229829
  • GC01P231762
  • GC01P202246

Summaries for DISC1 Gene

Entrez Gene Summary for DISC1 Gene

  • This gene 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 through its interaction with other proteins. This gene is disrupted in a t(1;11)(q42.1;q14.3) translocation which segregates with schizophrenia and related psychiatric disorders in a large Scottish family. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

GeneCards Summary for DISC1 Gene

DISC1 (DISC1 Scaffold Protein) is a Protein Coding gene. Diseases associated with DISC1 include Schizophrenia 9 and Schizophrenia.

UniProtKB/Swiss-Prot Summary for DISC1 Gene

  • Involved in the regulation of multiple aspects of embryonic and adult neurogenesis. Required for neural progenitor proliferation in the ventrical/subventrical zone during embryonic brain development and in the adult dentate gyrus of the hippocampus. Participates in the Wnt-mediated neural progenitor proliferation as a positive regulator by modulating GSK3B activity and CTNNB1 abundance. Plays a role as a modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, including neuron positioning, dendritic development and synapse formation. Inhibits the activation of AKT-mTOR signaling upon interaction with CCDC88A. Regulates the migration of early-born granule cell precursors toward the dentate gyrus during the hippocampal development. Plays a role, together with PCNT, in the microtubule network formation.

Gene Wiki entry for DISC1 Gene

Additional gene information for DISC1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DISC1 Gene

Genomics for DISC1 Gene

GeneHancer (GH) Regulatory Elements for DISC1 Gene

Promoters and enhancers for DISC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J231625 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 518.9 +0.7 692 3.4 ZSCAN5C NRF1 TCF12 MYC ZNF300 POLR2G NCOR1 FOS ZNF639 ZIC2 DISC1 C1orf131 SPRTN ARV1 COG2 RF00017-511 TSNAX-DISC1
GH01J231774 Promoter/Enhancer 1.4 EPDnew FANTOM5 Ensembl ENCODE 505.8 +149.9 149863 7.4 ZNF217 ATF2 CTBP1 CTCF WT1 ZNF316 ZBTB17 MAFF FOS MAFK DISC1 ENSG00000274121 ENSG00000286071 lnc-TSNAX-2 TSNAX-DISC1
GH01J231693 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 507 +67.9 67850 3.1 MXI1 NR2F2 GATA3 ZNF263 RCOR1 SMARCA4 ZFX ZSCAN26 CHD2 YY1 DISC1 lnc-TSNAX-2 RNU5A-5P LINC00582 ENSG00000274121 TSNAX-DISC1
GH01J231333 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10 -289.8 -289766 8.1 FOXK2 ZNF217 ZSCAN5C NRF1 TCF12 POLR2G GTF2E2 PHF8 ZNF639 ZNF10 SPRTN EXOC8 piR-40665 LINC00582 EGLN1 DISC1 GNPAT ENSG00000287450
GH01J231724 Enhancer 1.1 FANTOM5 Ensembl ENCODE 19.2 +98.8 98785 2.8 ZNF217 CTCF REST RFX1 SMC3 ELK1 ZNF316 MAFF GABPA BMI1 DISC1 TSNAX lnc-TSNAX-2 ENSG00000274121 TSNAX-DISC1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DISC1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DISC1

Top Transcription factor binding sites by QIAGEN in the DISC1 gene promoter:
  • CREB
  • STAT3

Genomic Locations for DISC1 Gene

Genomic Locations for DISC1 Gene
chr1:231,626,815-232,041,272
(GRCh38/hg38)
Size:
414,458 bases
Orientation:
Plus strand
chr1:231,762,561-232,177,018
(GRCh37/hg19)
Size:
414,458 bases
Orientation:
Plus strand

Genomic View for DISC1 Gene

Genes around DISC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DISC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DISC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DISC1 Gene

Proteins for DISC1 Gene

  • Protein details for DISC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NRI5-DISC1_HUMAN
    Recommended name:
    Disrupted in schizophrenia 1 protein
    Protein Accession:
    Q9NRI5
    Secondary Accessions:
    • A6NLH2
    • C4P091
    • C4P095
    • C4P0A1
    • C4P0A3
    • C4P0B3
    • C4P0B6
    • C4P0C1
    • C9J6D0
    • O75045
    • Q5VT44
    • Q5VT45
    • Q8IXJ0
    • Q8IXJ1
    • Q9BX19
    • Q9NRI3
    • Q9NRI4

    Protein attributes for DISC1 Gene

    Size:
    854 amino acids
    Molecular mass:
    93611 Da
    Quaternary structure:
    • Interacts with NDEL1 (PubMed:12506198). Interacts with CCDC88A (via C-terminus); the interaction is direct. Interacts with GSK3B (By similarity). Interacts with tubulin alpha, ACTN2, ANKHD1, ATF4, ATF5, CEP63, EIF3S3, MAP1A, NDEL1, PAFAH1B1, RANBP9, SPTBN4, SYNE1 and TRAF3IP1 (PubMed:12812986). Interaction with microtubules may be mediated in part by TRAF3IP1. Interacts (via C-terminal) with PCNT (PubMed:18955030). Interacts with CHCHD6 (PubMed:22228767). Interacts with CCDC141 (By similarity). Interacts with FBXW7, the substrate-recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex; the interaction targets DISC1 for proteasomal degradation (PubMed:28727686). Interacts with ZNF365 (PubMed:17389905).
    Miscellaneous:
    • [Isoform 1]: Non-canonical donor and acceptor splice sites for the last 2 exons.
    • [Isoform 2]: Non-canonical donor and acceptor splice sites for the last 2 exons.
    SequenceCaution:
    • Sequence=BAA32302.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DISC1 Gene

    Alternative splice isoforms for DISC1 Gene

neXtProt entry for DISC1 Gene

Post-translational modifications for DISC1 Gene

  • Ubiquitinated. Ubiquitination with 'Lys-48'-linked polyubiquitin chains leads to its proteasomal degradation.
  • Ubiquitination at Lys372
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DISC1 Gene

Domains & Families for DISC1 Gene

Gene Families for DISC1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for DISC1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DISC1 Gene

GenScript: Design optimal peptide antigens:
  • Disrupted in schizophrenia 1 (A7E2W8_HUMAN)
  • Disrupted in schizophrenia 1 (B1AL60_HUMAN)
  • Disrupted in schizophrenia 1 isoform 9 (C4P091_HUMAN)
  • Disrupted in schizophrenia 1 isoform 4 (C4P092_HUMAN)
  • Disrupted in schizophrenia 1 isoform 6 (C4P094_HUMAN)
genes like me logo Genes that share domains with DISC1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for DISC1 Gene

Function for DISC1 Gene

Molecular function for DISC1 Gene

UniProtKB/Swiss-Prot Function:
Involved in the regulation of multiple aspects of embryonic and adult neurogenesis. Required for neural progenitor proliferation in the ventrical/subventrical zone during embryonic brain development and in the adult dentate gyrus of the hippocampus. Participates in the Wnt-mediated neural progenitor proliferation as a positive regulator by modulating GSK3B activity and CTNNB1 abundance. Plays a role as a modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, including neuron positioning, dendritic development and synapse formation. Inhibits the activation of AKT-mTOR signaling upon interaction with CCDC88A. Regulates the migration of early-born granule cell precursors toward the dentate gyrus during the hippocampal development. Plays a role, together with PCNT, in the microtubule network formation.

Phenotypes From GWAS Catalog for DISC1 Gene

Gene Ontology (GO) - Molecular Function for DISC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12812986
GO:0019894 kinesin binding IEA --
GO:0044877 protein-containing complex binding IEA --
GO:0060090 molecular adaptor activity IEA --
genes like me logo Genes that share ontologies with DISC1: view
genes like me logo Genes that share phenotypes with DISC1: view

Human Phenotype Ontology for DISC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DISC1 Gene

MGI Knock Outs for DISC1:
  • Disc1 Disc1<tm1(DISC1/DISC1FP1,DISC1FP1/DISC1,DISC1)Xzho>
  • Disc1 Disc1<tm1Kara>

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DISC1 Gene

Localization for DISC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DISC1 Gene

Cytoplasm. Cytoplasm, cytoskeleton. Mitochondrion. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell junction, synapse, postsynaptic density. Note=Colocalizes with NDEL1 in the perinuclear region and the centrosome (By similarity). Localizes to punctate cytoplasmic foci which overlap in part with mitochondria (PubMed:12506198, PubMed:15797709). Colocalizes with PCNT at the centrosome (PubMed:18955030). {ECO:0000250 UniProtKB:Q811T9, ECO:0000269 PubMed:12506198, ECO:0000269 PubMed:15797709, ECO:0000269 PubMed:18955030}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DISC1 gene
Compartment Confidence
cytoskeleton 5
mitochondrion 5
plasma membrane 4
nucleus 4
endoplasmic reticulum 3
cytosol 3
extracellular 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DISC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IDA 20880836
GO:0005783 endoplasmic reticulum IEA --
GO:0005813 centrosome IDA 18762586
genes like me logo Genes that share ontologies with DISC1: view

Pathways & Interactions for DISC1 Gene

PathCards logo

SuperPathways for DISC1 Gene

No Data Available

SIGNOR curated interactions for DISC1 Gene

Activates:

Gene Ontology (GO) - Biological Process for DISC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IMP 18955030
GO:0001764 neuron migration IMP 19502360
GO:0001954 positive regulation of cell-matrix adhesion IEA --
GO:0002052 positive regulation of neuroblast proliferation IGI 19303846
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with DISC1: view

No data available for Pathways by source for DISC1 Gene

Drugs & Compounds for DISC1 Gene

(2) Drugs for DISC1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with DISC1: view

Transcripts for DISC1 Gene

mRNA/cDNA for DISC1 Gene

24 REFSEQ mRNAs :
57 NCBI additional mRNA sequence :
24 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DISC1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18
SP1: - - - - -
SP2: - - - - - -
SP3: - - - -
SP4: -
SP5: - - - -
SP6: -

Relevant External Links for DISC1 Gene

GeneLoc Exon Structure for
DISC1

Expression for DISC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DISC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DISC1 Gene

This gene is overexpressed in Whole Blood (x4.6).

Protein differential expression in normal tissues from HIPED for DISC1 Gene

This gene is overexpressed in Plasma (58.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DISC1 Gene



Protein tissue co-expression partners for DISC1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DISC1

SOURCE GeneReport for Unigene cluster for DISC1 Gene:

Hs.13318

mRNA Expression by UniProt/SwissProt for DISC1 Gene:

Q9NRI5-DISC1_HUMAN
Tissue specificity: Ubiquitous. Highly expressed in the dentate gyrus of the hippocampus. Also expressed in the temporal and parahippocampal cortices and cells of the white matter.

Evidence on tissue expression from TISSUES for DISC1 Gene

  • Nervous system(4.9)
  • Heart(4.1)
genes like me logo Genes that share expression patterns with DISC1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for DISC1 Gene

Orthologs for DISC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DISC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DISC1 31 30
  • 98.43 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DISC1 30
  • 83.1 (n)
dog
(Canis familiaris)
Mammalia DISC1 31 30
  • 81.04 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Disc1 17 31 30
  • 70.53 (n)
rat
(Rattus norvegicus)
Mammalia Disc1 30
  • 69.83 (n)
oppossum
(Monodelphis domestica)
Mammalia DISC1 31
  • 38 (a)
OneToOne
chicken
(Gallus gallus)
Aves DISC1 31 30
  • 59.18 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DISC1 31
  • 47 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii disc1 31
  • 17 (a)
OneToOne
Species where no ortholog for DISC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DISC1 Gene

ENSEMBL:
Gene Tree for DISC1 (if available)
TreeFam:
Gene Tree for DISC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DISC1: view image

Paralogs for DISC1 Gene

(6) SIMAP similar genes for DISC1 Gene using alignment to 27 proteins:

  • DISC1_HUMAN
  • A7E2W8_HUMAN
  • B1AM64_HUMAN
  • C4P092_HUMAN
  • C4P093_HUMAN
  • C4P094_HUMAN
  • C4P096_HUMAN
  • C4P098_HUMAN
  • C4P0A0_HUMAN
  • C4P0A4_HUMAN
  • C4P0A5_HUMAN
  • C4P0A9_HUMAN
  • C4P0B0_HUMAN
  • C4P0B1_HUMAN
  • C4P0B2_HUMAN
  • C4P0C4_HUMAN
  • C4P0C7_HUMAN
  • C4P0C8_HUMAN
  • C4P0D0_HUMAN
  • C4P0D1_HUMAN
  • C4P0D2_HUMAN
  • C4P0D3_HUMAN
  • C4P0D4_HUMAN
  • C4P0D6_HUMAN
  • C4P0D8_HUMAN
  • H0Y7U2_HUMAN
  • Q5T409_HUMAN
genes like me logo Genes that share paralogs with DISC1: view

No data available for Paralogs for DISC1 Gene

Variants for DISC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DISC1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
712258 Benign: not provided 231,694,746(+) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
713043 Benign: not provided 231,694,792(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
714799 Likely Benign: not provided 231,694,237(+) G/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
719003 Benign: not provided 231,771,027(+) G/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
720906 Benign: not provided 231,694,313(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for DISC1 Gene

Structural Variations from Database of Genomic Variants (DGV) for DISC1 Gene

Variant ID Type Subtype PubMed ID
dgv153e212 CNV gain 25503493
dgv293n106 CNV deletion 24896259
dgv582n100 CNV gain 25217958
dgv849n54 CNV gain 21841781
esv1761772 CNV insertion 17803354
esv2657352 CNV deletion 23128226
esv2661657 CNV deletion 23128226
esv2668388 CNV deletion 23128226
esv2672018 CNV deletion 23128226
esv2724883 CNV deletion 23290073
esv2724894 CNV deletion 23290073
esv2724905 CNV deletion 23290073
esv2724917 CNV deletion 23290073
esv2759004 CNV gain 17122850
esv2762173 CNV loss 21179565
esv2763669 CNV gain 21179565
esv3308383 CNV mobile element insertion 20981092
esv3409551 CNV duplication 20981092
esv3429698 CNV duplication 20981092
esv3434648 CNV insertion 20981092
esv3446715 CNV insertion 20981092
esv3449086 CNV insertion 20981092
esv3575783 CNV gain 25503493
esv3589116 CNV gain 21293372
esv3589119 CNV loss 21293372
esv3589120 CNV loss 21293372
esv3589121 CNV loss 21293372
esv3589124 CNV loss 21293372
esv994187 CNV insertion 20482838
nsv1003284 CNV loss 25217958
nsv1011509 CNV gain 25217958
nsv1013883 CNV gain 25217958
nsv1113226 CNV deletion 24896259
nsv1113227 CNV deletion 24896259
nsv1115033 CNV deletion 24896259
nsv1119761 CNV deletion 24896259
nsv468338 CNV gain 19166990
nsv468382 CNV loss 19166990
nsv476204 CNV novel sequence insertion 20440878
nsv477268 CNV novel sequence insertion 20440878
nsv4832 CNV insertion 18451855
nsv4843 CNV insertion 18451855
nsv4855 CNV insertion 18451855
nsv509646 CNV insertion 20534489
nsv516935 CNV gain 19592680
nsv528452 CNV loss 19592680
nsv549338 CNV loss 21841781
nsv827230 CNV gain 20364138
nsv8902 CNV gain 18304495
nsv952147 CNV duplication 24416366
nsv999063 CNV gain 25217958

Variation tolerance for DISC1 Gene

Residual Variation Intolerance Score: 93.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.83; 91.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DISC1 Gene

Human Gene Mutation Database (HGMD)
DISC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DISC1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DISC1 Gene

Disorders for DISC1 Gene

MalaCards: The human disease database

(24) MalaCards diseases for DISC1 Gene - From: LncRNADisease, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search DISC1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DISC1_HUMAN
  • Note=A chromosomal aberration involving DISC1 segregates with schizophrenia and related psychiatric disorders in a large Scottish family. Translocation t(1;11)(q42.1;q14.3). The truncated DISC1 protein produced by this translocation is unable to interact with ATF4, ATF5 and NDEL1.
  • Schizophrenia 9 (SCZD9) [MIM:604906]: A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). 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. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder. {ECO:0000269 PubMed:11468279, ECO:0000269 PubMed:14532331, ECO:0000269 PubMed:15386212, ECO:0000269 PubMed:15939883}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Additional Disease Information for DISC1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DISC1: view

No data available for Genatlas for DISC1 Gene

Publications for DISC1 Gene

  1. Disrupted in schizophrenia 1 (DISC1): association with schizophrenia, schizoaffective disorder, and bipolar disorder. (PMID: 15386212) Hodgkinson CA … Malhotra AK (American journal of human genetics 2004) 3 4 23 41 54
  2. A functional polymorphism in the disrupted-in schizophrenia 1 gene is associated with chronic fatigue syndrome. (PMID: 20227423) Fukuda S … Watanabe Y (Life sciences 2010) 3 23 41 54
  3. Disrupted in schizophrenia 1 regulates neuronal progenitor proliferation via modulation of GSK3beta/beta-catenin signaling. (PMID: 19303846) Mao Y … Tsai LH (Cell 2009) 3 4 23 54
  4. DISC1 splice variants are upregulated in schizophrenia and associated with risk polymorphisms. (PMID: 19805229) Nakata K … Kleinman JE (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 4 41 54
  5. The Disrupted-in-Schizophrenia-1 Ser704Cys polymorphism and brain morphology in schizophrenia. (PMID: 19304459) Takahashi T … Ozaki N (Psychiatry research 2009) 3 23 41 54

Products for DISC1 Gene