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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
  • 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
  • Disks Large-Associated Protein 4 3
  • 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 Retinal Degeneration, Late-Onset, Autosomal Dominant. 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 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 , fRNAdb sequence ontologies and piRNA Summary for DLGAP4 Gene

Genomics for DLGAP4 Gene

Regulatory Elements for DLGAP4 Gene

Enhancers for DLGAP4 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
GH20H036540 1.3 FANTOM5 ENCODE dbSUPER 4.1 +236.6 236644 5 CTCF TFAP4 NFIB ZMYM3 RAD21 ZNF644 ZFHX2 ELK1 EGR1 POLR2A MYL9 AAR2 DLGAP4 GC20P036550
GH20H036454 1.6 FANTOM5 Ensembl ENCODE dbSUPER 2.9 +148.7 148740 0 SOX13 MXI1 PKNOX1 SAP130 ARID4B SIN3A MAX NFXL1 SALL2 RARA RBM39 RBM12 CPNE1 NDRG3 RPL36P4 ENSG00000232406 AAR2 RPN2 EPB41L1 ERGIC3
GH20H035606 0.7 ENCODE 4 -698.8 -698845 1 ESRRA ZBTB7B ZFHX2 CTBP1 EGR1 FOS EGR2 SMARCE1 ZNF687 ZNF362 DLGAP4 FER1L4 RPL37P1
GH20H036091 1.6 FANTOM5 ENCODE dbSUPER 1.4 -213.2 -213235 3 ZNF133 SIN3A ZNF2 ZNF766 GLIS2 GATA2 ELK1 KLF7 YY2 ZNF488 DSN1 ERGIC3 EPB41L1 HMGB3P2 RPF2P1 C20orf173 ENSG00000242507 DLGAP4-AS1 CNBD2 LOC102725201
GH20H036662 0.3 FANTOM5 1.9 +355.8 355839 0 DLGAP4 GC20M036669 ENSG00000202255 SLA2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DLGAP4 on UCSC Golden Path with GeneCards custom track

Genomic Location for DLGAP4 Gene

Chromosome:
20
Start:
36,306,323 bp from pter
End:
36,528,637 bp from pter
Size:
222,315 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

Suggested Antigen Peptide Sequences for DLGAP4 Gene

GenScript: Design optimal peptide antigens:

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
GO:0019904 protein domain specific binding IBA --
genes like me logo Genes that share ontologies with DLGAP4: view
genes like me logo Genes that share phenotypes with DLGAP4: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DLGAP4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , 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

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:0045202 synapse IBA --
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:0006461 protein complex assembly IBA --
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

(12) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(16) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DLGAP4 Gene

Discs, large (Drosophila) homolog-associated protein 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DLGAP4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
ECgene alternative splicing isoforms for
DLGAP4

Expression for DLGAP4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for DLGAP4 Gene



Protein tissue co-expression partners for DLGAP4 Gene

NURSA nuclear receptor signaling pathways regulating expression of DLGAP4 Gene:

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

Primer Products

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 33 34
  • 99.6 (n)
cow
(Bos Taurus)
Mammalia DLGAP4 34
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DLGAP4 33 34
  • 91.89 (n)
mouse
(Mus musculus)
Mammalia Dlgap4 33 16 34
  • 89.42 (n)
rat
(Rattus norvegicus)
Mammalia Dlgap4 33
  • 89.28 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DLGAP4 34
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DLGAP4 34
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves DLGAP4 33 34
  • 73.26 (n)
lizard
(Anolis carolinensis)
Reptilia DLGAP4 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dlgap4 33
  • 65.98 (n)
Str.5427 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.22327 33
zebrafish
(Danio rerio)
Actinopterygii dlgap4 33
  • 60.17 (n)
dlgap4a 34
  • 53 (a)
OneToMany
dlgap4b 34
  • 50 (a)
OneToMany
wufk71g01 33
fruit fly
(Drosophila melanogaster)
Insecta vlc 34
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2669 34
  • 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)

Paralogs for DLGAP4 Gene

Paralogs for DLGAP4 Gene

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

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

Variants for DLGAP4 Gene

Sequence variations from dbSNP and Humsavar for DLGAP4 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs1000007088 -- 36,527,805(+) CTGCC(A/C)TTTTA intron-variant, nc-transcript-variant, utr-variant-3-prime
rs1000029234 -- 36,469,772(+) AAAAG(A/T)AACAA intron-variant
rs1000033870 -- 36,517,010(+) ATCCG(C/T)CCGCC intron-variant
rs1000043422 -- 36,391,209(+) TAGCC(A/G)TGGGA intron-variant
rs1000087985 -- 36,407,434(+) ACCAG(G/T)CTCTG intron-variant

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)

Relevant External Links 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

(1) MalaCards diseases for DLGAP4 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
retinal degeneration, late-onset, autosomal dominant
  • retinitis pigmentosa
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for DLGAP4

Genetic Association Database (GAD)
DLGAP4
Human Genome Epidemiology (HuGE) Navigator
DLGAP4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DLGAP4
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 45 60
  2. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 60
  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 60
  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 60
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 60

Products for DLGAP4 Gene

Sources for DLGAP4 Gene

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