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    DAOA D-amino acid oxidase activator [ Homo sapiens (human) ]

    Gene ID: 267012, updated on 28-Oct-2024

    Summary

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    Official Symbol
    DAOAprovided by HGNC
    Official Full Name
    D-amino acid oxidase activatorprovided by HGNC
    Primary source
    HGNC:HGNC:21191
    See related
    Ensembl:ENSG00000182346 MIM:607408; AllianceGenome:HGNC:21191
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LG72; SG72
    Summary
    This gene encodes a protein that may function as an activator of D-amino acid oxidase, which degrades the gliotransmitter D-serine, a potent activator of N-methyl-D-aspartate (NMDA) type glutamate receptors. Studies also suggest that one encoded isoform may play a role in mitochondrial function and dendritic arborization. Polymorphisms in this gene have been implicated in susceptibility to schizophrenia and bipolar affective disorder. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Mar 2011]
    Orthologs
    all
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    Genomic context

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    See DAOA in Genome Data Viewer
    Location:
    13q33.2; 13q34
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (105465867..105491034)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (104686091..104711261)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (106118216..106143383)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984609 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:105760089-105760627 Neighboring gene VISTA enhancer hs1991 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7977 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7978 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5488 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7979 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:105926712-105926889 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:105930992-105931492 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:105931493-105931993 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:105934754-105935689 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:105998132-105999331 Neighboring gene VISTA enhancer hs759 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:106034184-106034970 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:106034971-106035756 Neighboring gene uncharacterized LOC105370344 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_31616 Neighboring gene DAOA antisense RNA 1 Neighboring gene uncharacterized LOC105370345 Neighboring gene long intergenic non-protein coding RNA 343 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:106469046-106469979 Neighboring gene uncharacterized LOC124903244

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Association study of 20 genetic variants at the (D)-amino acid oxidase gene in schizophrenia. Suliman H, et al. Psychiatr Genet, 2010 Apr. PMID 20145586
    2. A putative high risk diplotype of the G72 gene is in healthy individuals associated with better performance in working memory functions and altered brain activity in the medial temporal lobe. Jansen A, et al. Neuroimage, 2009 Apr 15. PMID 19167508
    3. Common and rare variants of DAOA in bipolar disorder. Maheshwari M, et al. Am J Med Genet B Neuropsychiatr Genet, 2009 Oct 5. PMID 19194963, Free PMC Article
    4. Association study of the G72 gene with schizophrenia in a Japanese population: a multicenter study. Ohi K, et al. Schizophr Res, 2009 Apr. PMID 19237267
    5. First evidence of association between G72 and bipolar disorder in the Chinese Han population. Zhang Z, et al. Psychiatr Genet, 2009 Jun. PMID 19339914

    See all (138) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. d-Amino Acids and pLG72 in Alzheimer's Disease and Schizophrenia.
      Title: d-Amino Acids and pLG72 in Alzheimer's Disease and Schizophrenia.
    2. Effect of DAOA genetic variation on white matter alteration in corpus callosum in patients with first-episode schizophrenia.
      Title: Effect of DAOA genetic variation on white matter alteration in corpus callosum in patients with first-episode schizophrenia.
    3. pLG72 levels increase in early phase of Alzheimer's disease but decrease in late phase.
      Title: pLG72 levels increase in early phase of Alzheimer's disease but decrease in late phase.
    4. The observed loss of SOD1 function in pLG72-expressing cells may explain the elevated ROS levels and inhibition of U87 cell proliferation and has implications for understanding the onset of neurodegenerative diseases in humans.
      Title: pLG72 induces superoxide radicals via interaction and aggregation with SOD1.
    5. Findings showed that NOS1AP (rs348624, rs12742393 and rs1415263), DISC1 (rs821633 and rs1000731), DAOA (rs2391191) and GSK3B (rs6438552) SNPs had no association with development of early-onset schizophrenia; however, our finding suggested statistically significant role of the interaction of NOS1AP, DISC1, DAOA and GSK3B polymorphisms in schizophrenia susceptibility.
      Title: The interaction of NOS1AP, DISC1, DAOA, and GSK3B confers susceptibility of early-onset schizophrenia in Chinese Han population.
    6. In SNP-based single locus association analyses, the rs778292 in the DAOA gene showed significant association with schizophrenia. Additionally, a three-SNP haplotype (rs778292-rs3918342-rs1421292) in the DAOA gene were observed to be significantly associated with schizophrenia in a Taiwanese population.
      Title: The DAOA gene is associated with schizophrenia in the Taiwanese population.
    7. G72 transgenic mice have larger excitatory synapses with an increased amount of N-methyl-d-aspartate (NMDA) receptors in the molecular layer of dentate gyrus, compared with wild-type littermates. Transgenic animals have lower number of dentate granule cells with a parallel, but an even stronger decrease in the number of excitatory synapses in the molecular layer.
      Title: Synaptic and cellular changes induced by the schizophrenia susceptibility gene G72 are rescued by N-acetylcysteine treatment.
    8. pLG72 interacts with neosynthesized d-amino acid oxidase (hDAAO), promoting its inactivation and degradation. In this work, we used low-resolution techniques to characterize the surface topology of the hDAAO-pLG72 complex.
      Title: Regulating levels of the neuromodulator d-serine in human brain: structural insight into pLG72 and d-amino acid oxidase interaction.
    9. Data show that the R30K D-amino acid oxidase activator pLG72 is significantly more prone to degradation than the R30 and the K62E variants in a cell system.
      Title: Elucidating the role of the pLG72 R30K substitution in schizophrenia susceptibility.
    10. Studies successfully predicted the structures of the N- and C-terminal domains (ND and CD, respectively) of G72.
      Title: Structure models of G72, the product of a susceptibility gene to schizophrenia.
    Submit: New GeneRIF Correction See all GeneRIFs (103)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Schizophrenia
    MedGen: C0036341 OMIM: 181500 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
    EBI GWAS Catalog
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    EBI GWAS Catalog
    Genome-wide association study of chronic periodontitis in a general German population.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in D-amino acid metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of protein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    D-amino acid oxidase regulator
    Names
    schizophrenia- and bipolar disorder-associated protein G72

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012694.1 RefSeqGene

      Range
      5179..30168
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001161812.1 → NP_001155284.1  D-amino acid oxidase regulator isoform 2

      See identical proteins and their annotated locations for NP_001155284.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has additional segments in the 5' and 3' coding regions, as compared to variant 1, which results in a downstream AUG start codon. The resulting isoform (2) is shorter and has a different N-terminus, as compared to isoform 1.
      Source sequence(s)
      AY138547, DQ386870
      Consensus CDS
      CCDS59242.1
      UniProtKB/TrEMBL
      A2T115
      Related
      ENSP00000469539.1, ENST00000595812.2
      Conserved Domains (1) summary
      pfam15199
      Location:55 → 125
      DAOA; D-amino acid oxidase activator

    2. NM_001161814.1 → NP_001155286.1  D-amino acid oxidase regulator isoform 3

      See identical proteins and their annotated locations for NP_001155286.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate 5' exon and an additional segment in the 5' coding region, as compared to variant 1, which results in a downstream AUG start codon. The resulting isoform (3) is shorter and has a different N-terminus, as compared to isoform 1.
      Source sequence(s)
      AY138547, AY170469
      Consensus CDS
      CCDS53880.1
      UniProtKB/Swiss-Prot
      P59103
      Related
      ENSP00000453831.1, ENST00000559369.5
      Conserved Domains (1) summary
      pfam15199
      Location:1 → 82
      DAOA; D-amino acid oxidase activator

    3. NM_001384644.1 → NP_001371573.1  D-amino acid oxidase regulator isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL359751, AY223901
      Consensus CDS
      CCDS91834.1
      Related
      ENSP00000470244.1, ENST00000473269.5
      Conserved Domains (1) summary
      pfam15199
      Location:72 → 98
      DAOA; D-amino acid oxidase activator

    4. NM_001384645.1 → NP_001371574.1  D-amino acid oxidase regulator isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL359751, AY170470
      Conserved Domains (1) summary
      pfam15199
      Location:26 → 84
      DAOA; D-amino acid oxidase activator

    5. NM_001384646.1 → NP_001371575.1  D-amino acid oxidase regulator isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL359751, DQ343761
      Consensus CDS
      CCDS53880.1
      Related
      ENSP00000472260.1, ENST00000600388.5
      Conserved Domains (1) summary
      pfam15199
      Location:1 → 82
      DAOA; D-amino acid oxidase activator

    6. NM_172370.5 → NP_758958.3  D-amino acid oxidase regulator isoform 1

      See identical proteins and their annotated locations for NP_758958.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AL359751
      Consensus CDS
      CCDS41905.1
      UniProtKB/Swiss-Prot
      A6NKG7, P59103, Q0VAE6, Q5VX59, Q86Y17, Q8IWM4
      Related
      ENSP00000365103.3, ENST00000375936.9
      Conserved Domains (1) summary
      pfam15199
      Location:72 → 153
      DAOA; D-amino acid oxidase activator

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      105465867..105491034
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      104686091..104711261
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P59103.2 GenPept UniProtKB/Swiss-Prot:P59103

    Gene LinkOut

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