The product of this gene is a membrane-associated guanylate kinase found at the postsynaptic density in neuronal cells. It is a signaling molecule that can interact with potassium channels and receptors, as well as other signaling molecules. The protein encoded by this gene can interact with PSD-95 through its guanylate kinase domain and may be involved in clustering PSD-95 in ... See more...

Aliases for DLGAP4 Gene

Aliases for DLGAP4 Gene

  • DLG Associated Protein 4 2 3 5
  • Discs Large Homolog Associated Protein 4 2 3
  • SAP90/PSD-95-Associated Protein 4 3 4
  • Disks Large-Associated Protein 4 3 4
  • PSD-95/SAP90-Binding Protein 4 3 4
  • SAPAP-4 3 4
  • SAPAP4 3 4
  • DAP-4 3 4
  • DAP4 3 4
  • Discs, Large (Drosophila) Homolog-Associated Protein 4 2
  • KIAA0964 4
  • DLP4 3

External Ids for DLGAP4 Gene

Previous GeneCards Identifiers for DLGAP4 Gene

  • GC20P035609
  • GC20P034429
  • GC20P034894
  • GC20P031731

Summaries for DLGAP4 Gene

Entrez Gene Summary for DLGAP4 Gene

  • The product of this gene is a membrane-associated guanylate kinase found at the postsynaptic density in neuronal cells. It is a signaling molecule that can interact with potassium channels and receptors, as well as other signaling molecules. The protein encoded by this gene can interact with PSD-95 through its guanylate kinase domain and may be involved in clustering PSD-95 in the postsynaptic density region. The encoded protein is one of at least four similar proteins that have been found. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for DLGAP4 Gene

DLGAP4 (DLG Associated Protein 4) is a Protein Coding gene. Diseases associated with DLGAP4 include Transient Tic Disorder and Syndromic X-Linked Intellectual Disability Snyder Type. Among its related pathways are Protein-protein interactions at synapses and Transmission across Chemical Synapses. An important paralog of this gene is DLGAP1.

UniProtKB/Swiss-Prot Summary for DLGAP4 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.

Gene Wiki entry for DLGAP4 Gene

Additional gene information for DLGAP4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DLGAP4 Gene

Genomics for DLGAP4 Gene

GeneHancer (GH) Regulatory Elements for DLGAP4 Gene

Promoters and enhancers for DLGAP4 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
GH20J036459 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.1 +160.4 160440 13.6 EP300 ZBTB40 ZNF217 ZSCAN5C NRF1 MYC POLR2G NCOR1 JUND TEAD4 DLGAP4 RBM12 RBM39 RBL1 RPL36P4 ERGIC3 AAR2 RPN2 CPNE1 TGIF2
GH20J036306 Promoter 1.3 EPDnew Ensembl 500.7 +0.2 178 1.4 ZBTB10 ZBTB26 HDAC2 RBM25 EZH2 PCBP1 CTCF ZFP36 MXI1 PTBP1 DLGAP4 CPNE1 UQCC1 RF00017-3569 RF00017-3564
GH20J036331 Promoter 0.4 EPDnew 500.3 +25.1 25130 0.1 ZIC2 DLGAP4 AAR2 RF00017-3569 RF00017-3564
GH20J036540 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.1 +236.6 236595 5.4 CTCF NRF1 TEAD4 GABPA POLR2A RBM25 NR2F2 HDAC2 PCBP1 NFIC MYL9 DLGAP4 lnc-TGIF2-1 DLGAP4-AS1
GH20J036454 Enhancer 1.4 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 2.9 +149.1 149076 2 NONO TEAD4 SKI TEAD1 TBX3 ZNF341 SIN3A SALL2 WT1 FOXA2 NDRG3 ENSG00000232406 EPB41L1 NORAD MYL9 DLGAP4 SOGA1 piR-43955 piR-57460-409
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DLGAP4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DLGAP4

Top Transcription factor binding sites by QIAGEN in the DLGAP4 gene promoter:
  • AP-1
  • GATA-2
  • Ik-3
  • LyF-1
  • N-Myc
  • Pax-2
  • Pax-2a

Genomic Locations for DLGAP4 Gene

Genomic Locations for DLGAP4 Gene
chr20:36,306,323-36,528,637
(GRCh38/hg38)
Size:
222,315 bases
Orientation:
Plus strand
chr20:34,894,258-35,157,040
(GRCh37/hg19)
Size:
262,783 bases
Orientation:
Plus strand

Genomic View for DLGAP4 Gene

Genes around DLGAP4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DLGAP4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DLGAP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DLGAP4 Gene

Proteins for DLGAP4 Gene

  • Protein details for DLGAP4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2H0-DLGP4_HUMAN
    Recommended name:
    Disks large-associated protein 4
    Protein Accession:
    Q9Y2H0
    Secondary Accessions:
    • E1P5T5
    • Q5QPG4
    • Q5T2Y4
    • Q5T2Y5
    • Q9H137
    • Q9H138
    • Q9H1L7

    Protein attributes for DLGAP4 Gene

    Size:
    992 amino acids
    Molecular mass:
    108012 Da
    Quaternary structure:
    • Interacts with DLG1 and DLG4/PSD-95.
    SequenceCaution:
    • Sequence=BAA76808.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for DLGAP4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DLGAP4 Gene

Post-translational modifications for DLGAP4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DLGAP4 Gene

Domains & Families for DLGAP4 Gene

Gene Families for DLGAP4 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for DLGAP4 Gene

Blocks:
  • Guanylate-kinase-associated protein
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DLGAP4 Gene

GenScript: Design optimal peptide antigens:
  • SAP90/PSD-95-associated protein 4 (DLGP4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y2H0

UniProtKB/Swiss-Prot:

DLGP4_HUMAN :
  • Belongs to the SAPAP family.
Family:
  • Belongs to the SAPAP family.
genes like me logo Genes that share domains with DLGAP4: view

Function for DLGAP4 Gene

Molecular function for DLGAP4 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 DLGAP4 Gene

Gene Ontology (GO) - Molecular Function for DLGAP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16275660
genes like me logo Genes that share ontologies with DLGAP4: view
genes like me logo Genes that share phenotypes with DLGAP4: view

Animal Models for DLGAP4 Gene

MGI Knock Outs for DLGAP4:
  • Dlgap4 Dlgap4<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DLGAP4 Gene

Localization for DLGAP4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DLGAP4 Gene

Membrane; Peripheral membrane protein.

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 DLGAP4 gene
Compartment Confidence
plasma membrane 4
nucleus 4
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Focal adhesion sites (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DLGAP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0031594 neuromuscular junction IEA --
GO:0045202 synapse IEA --
GO:0098978 glutamatergic synapse IEA --
genes like me logo Genes that share ontologies with DLGAP4: view

Pathways & Interactions for DLGAP4 Gene

genes like me logo Genes that share pathways with DLGAP4: view

Pathways by source for DLGAP4 Gene

Gene Ontology (GO) - Biological Process for DLGAP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0023052 signaling IEA --
genes like me logo Genes that share ontologies with DLGAP4: view

No data available for SIGNOR curated interactions for DLGAP4 Gene

Drugs & Compounds for DLGAP4 Gene

No Compound Related Data Available

Transcripts for DLGAP4 Gene

mRNA/cDNA for DLGAP4 Gene

4 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
16 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 DLGAP4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c ·
SP1:
SP2: - - - - - -
SP3: - - -
SP4:
SP5:
SP6:
SP7: - - - - -
SP8: - - - - - -
SP9: - - - - - -
SP10: - -
SP11: - -
SP12: -
SP13:
SP14: - - - - - - - - -
SP15: - - - - - - -
SP16: - - - - - -
SP17: - - - - - -
SP18: - - - - -
SP19: - - - - - -
SP20:
SP21:
SP22: - - - - - -
SP23: - - - - - -
SP24: - - - - - -
SP25: - - - - - -
SP26: - - - -
SP27: - -
SP28: - -
SP29:
SP30: -
SP31:
SP32: - - -

ExUns: 17d ^ 18a · 18b · 18c · 18d · 18e ^ 19 ^ 20a · 20b · 20c ^ 21a · 21b · 21c · 21d ^ 22a · 22b · 22c · 22d · 22e · 22f ^ 23a · 23b · 23c · 23d ^ 24a · 24b ·
SP1: - - - - - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - - - - - -
SP5: - - -
SP6:
SP7: - - -
SP8: - - - - -
SP9: - - - - - - - - - - -
SP10: - - - - - -
SP11: - - - - - - - -
SP12: - - - - - -
SP13: - - - - - -
SP14:
SP15: - - - - - - - - - - - -
SP16: - - - - - - - -
SP17: - - - - - -
SP18: - - - - - - - - -
SP19: - - - - - - - - - - -
SP20: - - - - - - - - -
SP21: - -
SP22: - - - - - - - - -
SP23: - -
SP24:
SP25: - - - -
SP26: - - - -
SP27:
SP28:
SP29:
SP30:
SP31:
SP32:

ExUns: 24c ^ 25a · 25b · 25c ^ 26a · 26b · 26c · 26d
SP1:
SP2: -
SP3: -
SP4: - -
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21: - -
SP22:
SP23:
SP24:
SP25:
SP26:
SP27:
SP28:
SP29:
SP30:
SP31:
SP32:

Relevant External Links for DLGAP4 Gene

GeneLoc Exon Structure for
DLGAP4

Expression for DLGAP4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DLGAP4 Gene

Protein differential expression in normal tissues from HIPED for DLGAP4 Gene

This gene is overexpressed in Fetal Brain (12.3), Peripheral blood mononuclear cells (9.7), and Testis (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DLGAP4 Gene



Protein tissue co-expression partners for DLGAP4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DLGAP4

SOURCE GeneReport for Unigene cluster for DLGAP4 Gene:

Hs.249600

Evidence on tissue expression from TISSUES for DLGAP4 Gene

  • Nervous system(4.9)
  • Liver(4.2)
  • Skin(3.2)
  • Pancreas(3.1)
  • Lung(2.6)
  • Eye(2.2)
genes like me logo Genes that share expression patterns with DLGAP4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DLGAP4 Gene

Orthologs for DLGAP4 Gene

This gene was present in the common ancestor of animals.

Orthologs for DLGAP4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DLGAP4 31 30
  • 99.6 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DLGAP4 31
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DLGAP4 31 30
  • 91.89 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dlgap4 17 31 30
  • 89.42 (n)
rat
(Rattus norvegicus)
Mammalia Dlgap4 30
  • 89.28 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DLGAP4 31
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DLGAP4 31
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves DLGAP4 31 30
  • 73.26 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DLGAP4 31
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dlgap4 30
  • 65.98 (n)
Str.5427 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.22327 30
zebrafish
(Danio rerio)
Actinopterygii dlgap4 30
  • 60.17 (n)
dlgap4a 31
  • 53 (a)
OneToMany
dlgap4b 31
  • 50 (a)
OneToMany
wufk71g01 30
fruit fly
(Drosophila melanogaster)
Insecta vlc 31
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2669 31
  • 25 (a)
OneToMany
Species where no ortholog for DLGAP4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 DLGAP4 Gene

ENSEMBL:
Gene Tree for DLGAP4 (if available)
TreeFam:
Gene Tree for DLGAP4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DLGAP4: view image

Paralogs for DLGAP4 Gene

Paralogs for DLGAP4 Gene

(3) SIMAP similar genes for DLGAP4 Gene using alignment to 2 proteins:

  • DLGP4_HUMAN
  • F8WF49_HUMAN
genes like me logo Genes that share paralogs with DLGAP4: view

Variants for DLGAP4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DLGAP4 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
728931 Likely Benign: not provided 36,446,907(+) G/A MISSENSE_VARIANT
736679 Likely Benign: not provided 36,496,877(+) C/T SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
740829 Likely Benign: not provided 36,497,042(+) G/A SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
747057 Likely Benign: not provided 36,432,527(+) G/A SYNONYMOUS_VARIANT
751115 Likely Benign: not provided 36,432,527(+) G/C SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for DLGAP4 Gene

Structural Variations from Database of Genomic Variants (DGV) for DLGAP4 Gene

Variant ID Type Subtype PubMed ID
esv2665282 CNV deletion 23128226
esv2722371 CNV deletion 23290073
esv2722372 CNV deletion 23290073
esv2722374 CNV deletion 23290073
esv2722375 CNV deletion 23290073
esv2762071 CNV loss 21179565
esv3349610 CNV duplication 20981092
esv3557035 CNV deletion 23714750
esv3645734 CNV loss 21293372
esv3645735 CNV loss 21293372
esv3645736 CNV loss 21293372
esv3893331 CNV loss 25118596
esv3893332 CNV loss 25118596
nsv1057192 CNV loss 25217958
nsv1066470 CNV gain 25217958
nsv1066673 CNV loss 25217958
nsv1073057 CNV deletion 25765185
nsv1133503 CNV deletion 24896259
nsv474034 CNV novel sequence insertion 20440878
nsv474442 CNV novel sequence insertion 20440878
nsv480133 CNV novel sequence insertion 20440878
nsv521346 CNV loss 19592680
nsv833966 CNV gain+loss 17160897
nsv833967 CNV loss 17160897

Variation tolerance for DLGAP4 Gene

Residual Variation Intolerance Score: 12% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.34; 63.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DLGAP4 Gene

Human Gene Mutation Database (HGMD)
DLGAP4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DLGAP4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DLGAP4 Gene

Disorders for DLGAP4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DLGAP4 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DLGAP4

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 DLGAP4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DLGAP4 Gene

Publications for DLGAP4 Gene

  1. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PMID: 19086053) Gratacòs M … Psychiatric Genetics Network Group (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 41 54
  2. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 54
  3. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10231032) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 3 4 54
  4. SAPAPs. A family of PSD-95/SAP90-associated proteins localized at postsynaptic density. (PMID: 9115257) Takeuchi M … Takai Y (The Journal of biological chemistry 1997) 2 3 54
  5. Interrogating the protein interactomes of RAS isoforms identifies PIP5K1A as a KRAS-specific vulnerability. (PMID: 30194290) Adhikari H … Counter CM (Nature communications 2018) 3 54

Products for DLGAP4 Gene

Sources for DLGAP4 Gene