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DLGAP4 DLG associated protein 4 [ Homo sapiens (human) ]

Gene ID: 22839, updated on 5-Mar-2024

Summary

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Official Symbol
DLGAP4provided by HGNC
Official Full Name
DLG associated protein 4provided by HGNC
Primary source
HGNC:HGNC:24476
See related
Ensembl:ENSG00000080845 MIM:616191; AllianceGenome:HGNC:24476
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
DAP4; DLP4; DAP-4; SAPAP4; SAPAP-4
Summary
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]
Expression
Ubiquitous expression in brain (RPKM 12.5), endometrium (RPKM 11.0) and 25 other tissues See more
Orthologs
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Genomic context

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See DLGAP4 in Genome Data Viewer
Location:
20q11.23
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (36306339..36528633)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (38027049..38252509)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (34894261..35157036)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene erythrocyte membrane protein band 4.1 like 1 Neighboring gene uncharacterized LOC105372602 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:34858840-34860039 Neighboring gene AAR2 splicing factor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34959277-34959938 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34959939-34960600 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr20:34960601-34961262 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:34961263-34961922 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:34961923-34962584 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34964801-34965786 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34966822-34967482 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34968805-34969464 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34969762-34970692 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34978479-34978979 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34980118-34980829 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34996041-34996689 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35060233-35060734 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:35069878-35070075 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35082739-35083539 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35089423-35090213 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35090214-35091004 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35093338-35094263 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35092411-35093337 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17807 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35100944-35101844 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:35125835-35126334 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17808 Neighboring gene DLGAP4 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12872 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35170723-35171376 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35171377-35172030 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35172031-35172684 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35172685-35173338 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:35175959-35176887 Neighboring gene NANOG hESC enhancer GRCh37_chr20:35191013-35191578 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr20:35199946-35200498 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17809 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12873 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12874 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12875 Neighboring gene TGIF2-RAB5IF readthrough Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35213881-35214870 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35217734-35218362 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35219932-35220810 Neighboring gene myosin light chain 9 Neighboring gene TGFB induced factor homeobox 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. DLGAP4 acts as an effective prognostic predictor for hepatocellular carcinoma and is closely related to tumour progression. Dong C, et al. Sci Rep, 2022 Nov 17. PMID 36396671, Free PMC Article
  2. Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia. Minocherhomji S, et al. Hum Mol Genet, 2014 Dec 1. PMID 24986922, Free PMC Article
  3. Sequence and expression analysis of gaps in human chromosome 20. Minocherhomji S, et al. Nucleic Acids Res, 2012 Aug. PMID 22510267, Free PMC Article
  4. Gene profiles of a human bronchial epithelial cell line after in vitro exposure to respiratory (non-)sensitizing chemicals: identification of discriminating genetic markers and pathway analysis. Verstraelen S, et al. Toxicology, 2009 Jan 31. PMID 19041681
  5. Exosomal circ_DLGAP4 promotes diabetic kidney disease progression by sponging miR-143 and targeting ERBB3/NF-κB/MMP-2 axis. Bai S, et al. Cell Death Dis, 2020 Nov 23. PMID 33230102, Free PMC Article

See all (38) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CircDLGAP4 overexpression ameliorates neuronal injury in Parkinson's disease by binding to EIF4A3 and increasing HMGA2 expression.
    Title: CircDLGAP4 overexpression ameliorates neuronal injury in Parkinson's disease by binding to EIF4A3 and increasing HMGA2 expression.
  2. CircDLGAP4 induces autophagy and improves endothelial cell dysfunction in atherosclerosis by targeting PTPN4 with miR-134-5p.
    Title: CircDLGAP4 induces autophagy and improves endothelial cell dysfunction in atherosclerosis by targeting PTPN4 with miR-134-5p.
  3. DLGAP4 acts as an effective prognostic predictor for hepatocellular carcinoma and is closely related to tumour progression.
    Title: DLGAP4 acts as an effective prognostic predictor for hepatocellular carcinoma and is closely related to tumour progression.
  4. Exosomal circ_DLGAP4 promotes diabetic kidney disease progression by sponging miR-143 and targeting ERBB3/NF-kappaB/MMP-2 axis.
    Title: Exosomal circ_DLGAP4 promotes diabetic kidney disease progression by sponging miR-143 and targeting ERBB3/NF-κB/MMP-2 axis.
  5. Significant epigenetic remodelling of the DLGAP4 locus triggered by the t(8;20)(p12;q11.23) translocation and leading to dysregulation of DLGAP4 expression in affected carriers is reported.
    Title: Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia.
  6. Shows that an homologous rat protein can interact with nArgBP2, a novel neural member of the ponsin/ArgB/vinexin family.
    Title: nArgBP2, a novel neural member of ponsin/ArgBP2/vinexin family that interacts with synapse-associated protein 90/postsynaptic density-95-associated protein (SAPAP).
  7. Includes the identification and characterization of an homologous protein in rat.
    Title: SAPAPs. A family of PSD-95/SAP90-associated proteins localized at postsynaptic density.
  8. Observational study of gene-disease association. (HuGE Navigator)
    Title: 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.
Submit: New GeneRIF Correction

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

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

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of discs, large (Drosophila) homolog-associated protein 4 (DLGAP4) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ20588, KIAA0964, MGC131862

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in regulation of postsynaptic neurotransmitter receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in signaling IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cholinergic synapse IEA
Inferred from Electronic Annotation
more info
  
is_active_in glutamatergic synapse IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in neuromuscular junction IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
is_active_in postsynaptic specialization IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
disks large-associated protein 4
Names
PSD-95/SAP90-binding protein 4
SAP90/PSD-95-associated protein 4
discs large homolog associated protein 4

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.

mRNA and Protein(s)

  1. NM_001042486.4 → NP_001035951.1  disks large-associated protein 4 isoform c

    See identical proteins and their annotated locations for NP_001035951.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks several 5' exons but contains alternate 5' exon structure, and it thus differs in its 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AI984397, AK001681, AL050318, BC153874
    UniProtKB/TrEMBL
    A0A0B4J2C2
    Related
    ENSP00000477723.1, ENST00000475894.5
    Conserved Domains (1) summary
    pfam03359
    Location:1 → 285
    GKAP; Guanylate-kinase-associated protein (GKAP) protein

  2. NM_001365621.2 → NP_001352550.1  disks large-associated protein 4 isoform d

    Status: REVIEWED

    Source sequence(s)
    AL050318, AL390374, AL445705, AL512784
    Consensus CDS
    CCDS93034.1
    UniProtKB/Swiss-Prot
    E1P5T5, Q5QPG4, Q5T2Y4, Q5T2Y5, Q9H137, Q9H138, Q9H1L7, Q9Y2H0
    Related
    ENSP00000341633.5, ENST00000339266.10
    Conserved Domains (1) summary
    pfam03359
    Location:660 → 992
    GKAP; Guanylate-kinase-associated protein (GKAP) protein

  3. NM_001388257.1 → NP_001375186.1  disks large-associated protein 4 isoform c

    Status: REVIEWED

    Source sequence(s)
    AL050318, AL390374
    UniProtKB/TrEMBL
    A0A0B4J2C2
    Conserved Domains (1) summary
    pfam03359
    Location:1 → 285
    GKAP; Guanylate-kinase-associated protein (GKAP) protein

  4. NM_001388260.1 → NP_001375189.1  disks large-associated protein 4 isoform c

    Status: REVIEWED

    Source sequence(s)
    AL050318, AL390374
    UniProtKB/TrEMBL
    A0A0B4J2C2
    Conserved Domains (1) summary
    pfam03359
    Location:1 → 285
    GKAP; Guanylate-kinase-associated protein (GKAP) protein

  5. NM_001388262.1 → NP_001375191.1  disks large-associated protein 4 isoform c

    Status: REVIEWED

    Source sequence(s)
    AL050318, AL390374
    UniProtKB/TrEMBL
    A0A0B4J2C2
    Conserved Domains (1) summary
    pfam03359
    Location:1 → 285
    GKAP; Guanylate-kinase-associated protein (GKAP) protein

  6. NM_001388265.1 → NP_001375194.1  disks large-associated protein 4 isoform c

    Status: REVIEWED

    Source sequence(s)
    AL050318, AL390374
    UniProtKB/TrEMBL
    A0A0B4J2C2
    Conserved Domains (1) summary
    pfam03359
    Location:1 → 285
    GKAP; Guanylate-kinase-associated protein (GKAP) protein

  7. NM_001388268.1 → NP_001375197.1  disks large-associated protein 4 isoform c

    Status: REVIEWED

    Source sequence(s)
    AL050318, AL390374
    UniProtKB/TrEMBL
    A0A0B4J2C2
    Conserved Domains (1) summary
    pfam03359
    Location:1 → 285
    GKAP; Guanylate-kinase-associated protein (GKAP) protein

  8. NM_001388271.1 → NP_001375200.1  disks large-associated protein 4 isoform c

    Status: REVIEWED

    Source sequence(s)
    AL050318, AL390374
    UniProtKB/TrEMBL
    A0A0B4J2C2
    Conserved Domains (1) summary
    pfam03359
    Location:1 → 285
    GKAP; Guanylate-kinase-associated protein (GKAP) protein

  9. NM_001388274.1 → NP_001375203.1  disks large-associated protein 4 isoform c

    Status: REVIEWED

    Source sequence(s)
    AL050318, AL390374
    UniProtKB/TrEMBL
    A0A0B4J2C2
    Conserved Domains (1) summary
    pfam03359
    Location:1 → 285
    GKAP; Guanylate-kinase-associated protein (GKAP) protein

  10. NM_001388275.1 → NP_001375204.1  disks large-associated protein 4 isoform c

    Status: REVIEWED

    Source sequence(s)
    AL050318, AL390374
    UniProtKB/TrEMBL
    A0A0B4J2C2
    Conserved Domains (1) summary
    pfam03359
    Location:1 → 285
    GKAP; Guanylate-kinase-associated protein (GKAP) protein

  11. NM_001388277.1 → NP_001375206.1  disks large-associated protein 4 isoform e

    Status: REVIEWED

    Source sequence(s)
    AL050318, AL390374
    Conserved Domains (1) summary
    pfam03359
    Location:17 → 298
    GKAP; Guanylate-kinase-associated protein (GKAP) protein

  12. NM_001388278.1 → NP_001375207.1  disks large-associated protein 4 isoform f

    Status: REVIEWED

    Source sequence(s)
    AL050318, AL390374
    Conserved Domains (1) summary
    pfam03359
    Location:108 → 450
    GKAP; Guanylate-kinase-associated protein (GKAP) protein

  13. NM_014902.6 → NP_055717.2  disks large-associated protein 4 isoform a

    See identical proteins and their annotated locations for NP_055717.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AB023181, AI984397, AL050318, AL120584, AL390374
    Consensus CDS
    CCDS13274.1
    UniProtKB/Swiss-Prot
    Q9Y2H0
    Related
    ENSP00000363023.3, ENST00000373913.7
    Conserved Domains (1) summary
    pfam03359
    Location:650 → 989
    GKAP; Guanylate-kinase-associated protein (GKAP) protein

  14. NM_183006.4 → NP_892118.1  disks large-associated protein 4 isoform b

    See identical proteins and their annotated locations for NP_892118.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks several 5' exons but contains an alternate 5' terminal exon and it thus differs in its 5' UTR and 5' coding region, and it also lacks an in-frame exon but contains a differerent in-frame exon in the central coding region, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AI984397, AL050318, BC108706, BC153874
    Consensus CDS
    CCDS13275.1
    UniProtKB/Swiss-Prot
    Q9Y2H0
    Related
    ENSP00000345700.4, ENST00000340491.8
    Conserved Domains (1) summary
    pfam03359
    Location:121 → 453
    GKAP; Guanylate-kinase-associated protein (GKAP) protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    36306339..36528633
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528689.3 → XP_011526991.1  disks large-associated protein 4 isoform X1

    Conserved Domains (1) summary
    pfam03359
    Location:660 → 920
    GKAP; Guanylate-kinase-associated protein (GKAP) protein

  2. XM_047440012.1 → XP_047295968.1  disks large-associated protein 4 isoform X3

  3. XM_047440011.1 → XP_047295967.1  disks large-associated protein 4 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    38027049..38252509
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054323195.1 → XP_054179170.1  disks large-associated protein 4 isoform X1

  2. XM_054323197.1 → XP_054179172.1  disks large-associated protein 4 isoform X3

  3. XM_054323196.1 → XP_054179171.1  disks large-associated protein 4 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y2H0.3 GenPept UniProtKB/Swiss-Prot:Q9Y2H0

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