Gene
DLG4
discs large MAGUK scaffold protein 4
- HGNC 2903↗(opens in a new tab)
- Ensembl gene ENSG00000132535↗(opens in a new tab)
- NCBI Gene 1742↗(opens in a new tab)
Summary
- Cytogenetic location
- 17p13.1
- Coordinates
- Chromosome 17: 7,187,187–7,217,627 (GRCh38)
- Exons
- 20 exons across 30.4 kb
- Protein
- 724 amino acids
- Also known as
- PSD-95, PSD95, SAP90, SAP-90
- MANE Select transcript
- ENST00000399506.9NM_001321075.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Intellectual Disability
One of 233 genes linked to it
- 4 GenCC submitters rate it definitive or strong
How DLG4 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 6.2 kb of the gene's 30.4 kb; 2,175 of those bases code for the protein.
How a genome test reads DLG4
82
positions in DLG4 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 30.4 kb of DLG4, introns included, not only the 6.2 kb of exons.
Genes linked to the same conditions
- ACSL4acyl-CoA synthetase long chain family member 4Shares 1 condition
- ADKadenosine kinaseShares 1 condition
- ADNPactivity dependent neuroprotector homeoboxShares 1 condition
- AFF2ALF transcription elongation factor 2Shares 1 condition
- AHDC1AT-hook DNA binding motif containing 1Shares 1 condition
- ALKBH8alkB homolog 8, tRNA methyltransferaseShares 1 condition
- ANK3ankyrin 3Shares 1 condition
- ANKRD11ankyrin repeat domain 11Shares 1 condition
- AP1S2adaptor related protein complex 1 subunit sigma 2Shares 1 condition
- AP2M1adaptor related protein complex 2 subunit mu 1Shares 1 condition
- ARHGEF9Cdc42 guanine nucleotide exchange factor 9Shares 1 condition
- ARID1AAT-rich interaction domain 1AShares 1 condition
Traits linked to DLG4
The Human Phenotype Ontology lists these as features of the rare conditions DLG4 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). DLG4 gene: discs large MAGUK scaffold protein 4. Retrieved 16 October 2026, from https://dantelabs.com/genes/dlg4
Dante Labs. DLG4 gene: discs large MAGUK scaffold protein 4 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/dlg4
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