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Aliases for DLGAP3 Gene

Aliases for DLGAP3 Gene

  • DLG Associated Protein 3 2 3 5
  • Discs Large Homolog Associated Protein 3 2 3
  • SAP90/PSD-95-Associated Protein 3 3 4
  • PSD-95/SAP90-Binding Protein 3 3 4
  • SAPAP3 3 4
  • DAP-3 3 4
  • DAP3 3 4
  • Discs, Large (Drosophila) Homolog-Associated Protein 3 2
  • Disks Large-Associated Protein 3 3

External Ids for DLGAP3 Gene

Previous GeneCards Identifiers for DLGAP3 Gene

  • GC01M034759
  • GC01M035000
  • GC01M035103
  • GC01M035331
  • GC01M033448

Summaries for DLGAP3 Gene

GeneCards Summary for DLGAP3 Gene

DLGAP3 (DLG Associated Protein 3) is a Protein Coding gene. Diseases associated with DLGAP3 include Trichotillomania and Telogen Effluvium. Among its related pathways are Protein-protein interactions at synapses and Transmission across Chemical Synapses. GO annotations related to this gene include beta-amyloid binding. An important paralog of this gene is DLGAP2.

UniProtKB/Swiss-Prot for DLGAP3 Gene

  • May play a role in the molecular organization of synapses and neuronal cell signaling. Could be an adapter protein linking ion channel to the subsynaptic cytoskeleton. May induce enrichment of PSD-95/SAP90 at the plasma membrane.

Additional gene information for DLGAP3 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DLGAP3 Gene

Genomics for DLGAP3 Gene

Regulatory Elements for DLGAP3 Gene

Enhancers for DLGAP3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H035636 1.1 Ensembl ENCODE 4.5 -708.3 -708332 2 HDAC1 HDGF TBL1XR1 NFRKB FEZF1 ZBTB40 GATA2 SCRT2 HCFC1 CEBPB C1orf216 LOC105378645 TFAP2E KIAA0319L NCDN ENSG00000232335 CLSPN PSMB2 DLGAP3 GC01P035622
GH01H034875 0.4 dbSUPER 11.4 +53.0 52991 1 REST DLGAP3 ENSG00000230163 GJB4 SMIM12 GC01P034879
GH01H034923 0.5 FANTOM5 7 +5.9 5935 0 ZFHX2 HLF REST EGR2 DLGAP3 GC01P034879
GH01H034929 0.6 ENCODE 0.7 -0.1 -70 0 MAZ REST FOXM1 ZFHX2 EGR1 KLF9 ZBTB26 EZH2 ZBTB20 DLGAP3 LOC653160
GH01H034918 1 Ensembl ENCODE 0.4 +10.4 10406 0 MXI1 MAX BMI1 FEZF1 ZFHX2 EGR1 EED RUNX3 IKZF2 EGR2 ZMYM1 DLGAP3 GC01P034879
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DLGAP3 on UCSC Golden Path with GeneCards custom track

Promoters for DLGAP3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000004622 85 601 CTCF MAZ MXI1 REST ZNF398 ZFHX2 ZBTB48 EGR1 GLIS1 KLF9

Genomic Location for DLGAP3 Gene

Chromosome:
1
Start:
34,862,120 bp from pter
End:
34,929,585 bp from pter
Size:
67,466 bases
Orientation:
Minus strand

Genomic View for DLGAP3 Gene

Genes around DLGAP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DLGAP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DLGAP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DLGAP3 Gene

Proteins for DLGAP3 Gene

  • Protein details for DLGAP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95886-DLGP3_HUMAN
    Recommended name:
    Disks large-associated protein 3
    Protein Accession:
    O95886
    Secondary Accessions:
    • Q5TDD5
    • Q9H3X7

    Protein attributes for DLGAP3 Gene

    Size:
    979 amino acids
    Molecular mass:
    106040 Da
    Quaternary structure:
    • Interacts with DLG4/PSD-95.
    SequenceCaution:
    • Sequence=AAD20042.1; Type=Frameshift; Positions=833; Evidence={ECO:0000305};

neXtProt entry for DLGAP3 Gene

Post-translational modifications for DLGAP3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DLGAP3 Gene

No data available for DME Specific Peptides for DLGAP3 Gene

Domains & Families for DLGAP3 Gene

Gene Families for DLGAP3 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for DLGAP3 Gene

Suggested Antigen Peptide Sequences for DLGAP3 Gene

Graphical View of Domain Structure for InterPro Entry

O95886

UniProtKB/Swiss-Prot:

DLGP3_HUMAN :
  • Belongs to the SAPAP family.
Family:
  • Belongs to the SAPAP family.
genes like me logo Genes that share domains with DLGAP3: view

Function for DLGAP3 Gene

Molecular function for DLGAP3 Gene

UniProtKB/Swiss-Prot Function:
May play a role in the molecular organization of synapses and neuronal cell signaling. Could be an adapter protein linking ion channel to the subsynaptic cytoskeleton. May induce enrichment of PSD-95/SAP90 at the plasma membrane.

Phenotypes From GWAS Catalog for DLGAP3 Gene

Gene Ontology (GO) - Molecular Function for DLGAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 beta-amyloid binding IEA --
GO:0005515 protein binding IPI 17474147
GO:0019904 protein domain specific binding IBA --
genes like me logo Genes that share ontologies with DLGAP3: view
genes like me logo Genes that share phenotypes with DLGAP3: view

Animal Models for DLGAP3 Gene

MGI Knock Outs for DLGAP3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DLGAP3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DLGAP3 Gene

Localization for DLGAP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DLGAP3 Gene

Cell membrane; Peripheral membrane protein. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Cell junction, synapse. Note=Postsynaptic density of neuronal cells. {ECO:0000250}.

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 DLGAP3 gene
Compartment Confidence
plasma membrane 4
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for DLGAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0014069 postsynaptic density IEA --
GO:0016020 membrane IEA --
GO:0030054 cell junction IEA --
GO:0045202 synapse IBA --
genes like me logo Genes that share ontologies with DLGAP3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DLGAP3 Gene

Pathways & Interactions for DLGAP3 Gene

genes like me logo Genes that share pathways with DLGAP3: view

Pathways by source for DLGAP3 Gene

Gene Ontology (GO) - Biological Process for DLGAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006461 protein complex assembly IBA --
GO:0023052 signaling IEA --
genes like me logo Genes that share ontologies with DLGAP3: view

No data available for SIGNOR curated interactions for DLGAP3 Gene

Drugs & Compounds for DLGAP3 Gene

No Compound Related Data Available

Transcripts for DLGAP3 Gene

Unigene Clusters for DLGAP3 Gene

Discs, large (Drosophila) homolog-associated protein 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DLGAP3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for DLGAP3 Gene

No ASD Table

Relevant External Links for DLGAP3 Gene

GeneLoc Exon Structure for
DLGAP3
ECgene alternative splicing isoforms for
DLGAP3

Expression for DLGAP3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DLGAP3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DLGAP3 Gene

This gene is overexpressed in Brain - Cortex (x5.6), Brain - Nucleus accumbens (basal ganglia) (x5.4), Brain - Putamen (basal ganglia) (x5.4), Brain - Hippocampus (x5.0), Brain - Caudate (basal ganglia) (x4.9), Brain - Frontal Cortex (BA9) (x4.7), Brain - Anterior cingulate cortex (BA24) (x4.7), and Brain - Amygdala (x4.4).

Protein differential expression in normal tissues from HIPED for DLGAP3 Gene

This gene is overexpressed in Brain (43.1) and Frontal cortex (16.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DLGAP3 Gene



Protein tissue co-expression partners for DLGAP3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DLGAP3 Gene:

DLGAP3

SOURCE GeneReport for Unigene cluster for DLGAP3 Gene:

Hs.733945

Evidence on tissue expression from TISSUES for DLGAP3 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with DLGAP3: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DLGAP3 Gene

Orthologs for DLGAP3 Gene

This gene was present in the common ancestor of animals.

Orthologs for DLGAP3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DLGAP3 33 34
  • 99.71 (n)
cow
(Bos Taurus)
Mammalia DLGAP3 33 34
  • 94.11 (n)
dog
(Canis familiaris)
Mammalia DLGAP3 33 34
  • 93.18 (n)
rat
(Rattus norvegicus)
Mammalia Dlgap3 33
  • 92.69 (n)
mouse
(Mus musculus)
Mammalia Dlgap3 33 16 34
  • 92.38 (n)
oppossum
(Monodelphis domestica)
Mammalia DLGAP3 34
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DLGAP3 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves DLGAP3 33
  • 75.48 (n)
SMIM12 34
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DLGAP3 34
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dlgap3 33
  • 66.63 (n)
zebrafish
(Danio rerio)
Actinopterygii dlgap3 33 34
  • 60.88 (n)
fruit fly
(Drosophila melanogaster)
Insecta vlc 34
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2669 34
  • 21 (a)
OneToMany
Species where no ortholog for DLGAP3 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DLGAP3 Gene

ENSEMBL:
Gene Tree for DLGAP3 (if available)
TreeFam:
Gene Tree for DLGAP3 (if available)

Paralogs for DLGAP3 Gene

Paralogs for DLGAP3 Gene

(3) SIMAP similar genes for DLGAP3 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with DLGAP3: view

Variants for DLGAP3 Gene

Sequence variations from dbSNP and Humsavar for DLGAP3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000053901 -- 34,894,223(+) GAATG(C/G)ACAAA intron-variant
rs1000077984 -- 34,903,573(+) CTCAC(C/G)TGCAG intron-variant
rs1000090973 -- 34,878,622(+) CAATC(A/C)TGGTG intron-variant
rs1000094504 -- 34,874,082(+) GGGTA(C/T)GCCCT intron-variant
rs1000099462 -- 34,900,360(+) AGATG(C/G)CCTGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DLGAP3 Gene

Variant ID Type Subtype PubMed ID
esv2670062 CNV deletion 23128226
esv3577027 CNV gain 25503493
esv3585712 CNV loss 21293372
nsv1012995 CNV gain 25217958
nsv476831 CNV novel sequence insertion 20440878

Variation tolerance for DLGAP3 Gene

Residual Variation Intolerance Score: 2.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.06; 50.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DLGAP3 Gene

Human Gene Mutation Database (HGMD)
DLGAP3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DLGAP3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DLGAP3 Gene

Disorders for DLGAP3 Gene

MalaCards: The human disease database

(6) MalaCards diseases for DLGAP3 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
trichotillomania
  • hair-pulling syndrome
telogen effluvium
follicular mucinosis
  • alopecia mucinosa
impulse control disorder
  • disruptive, impulse control, and conduct disorders
tinea capitis
  • dermatophytosis of scalp
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for DLGAP3

Genetic Association Database (GAD)
DLGAP3
Human Genome Epidemiology (HuGE) Navigator
DLGAP3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DLGAP3
genes like me logo Genes that share disorders with DLGAP3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DLGAP3 Gene

Publications for DLGAP3 Gene

  1. Sapap3 and pathological grooming in humans: Results from the OCD collaborative genetics study. (PMID: 19051237) Bienvenu OJ … Nestadt G (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 22 45 60
  2. Large-scale concatenation cDNA sequencing. (PMID: 9110174) Yu W … Gibbs RA (Genome research 1997) 2 3 60
  3. A "double adaptor" method for improved shotgun library construction. (PMID: 8619474) Andersson B … Gibbs RA (Analytical biochemistry 1996) 2 3 60
  4. Exonic resequencing of the DLGAP3 gene as a candidate gene for schizophrenia. (PMID: 23414653) Li JM … Chen CH (Psychiatry research 2013) 3 60
  5. Synthesis of two SAPAP3 isoforms from a single mRNA is mediated via alternative translational initiation. (PMID: 22761992) Chua JJ … Kindler S (Scientific reports 2012) 3 60

Products for DLGAP3 Gene

Sources for DLGAP3 Gene

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