DLG3
Disks large homolog 3
Also known as: DLG3_HUMAN, KIAA1232, MRX90, NE-Dlg, NEDLG, PPP1R82, SAP-102, SAP102
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q92796
- Gene
- DLG3
- Ensembl
- ENSG00000082458
- Chromosome
- X
- Canonical length
- 817 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nucleoli
OverviewNCBI Gene
This gene encodes a member of the membrane-associated guanylate kinase protein family. The encoded protein may play a role in clustering of NMDA receptors at excitatory synapses. It may also negatively regulate cell proliferation through interaction with the C-terminal region of the adenomatosis polyposis coli tumor suppressor protein. Mutations in this gene have been associated with X-linked cognitive disability. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2009]
Canonical amino-acid sequenceUniProt
817 residues, UniProt reviewed canonical sequence.
>Q92796|DLG3
1 MHKHQHCCKC PECYEVTRLA ALRRLEPPGY GDWQVPDPYG PGGGNGASAG YGGYSSQTLP
61 SQAGATPTPR TKAKLIPTGR DVGPVPPKPV PGKSTPKLNG SGPSWWPECT CTNRDWYEQV
121 NGSDGMFKYE EIVLERGNSG LGFSIAGGID NPHVPDDPGI FITKIIPGGA AAMDGRLGVN
181 DCVLRVNEVD VSEVVHSRAV EALKEAGPVV RLVVRRRQPP PETIMEVNLL KGPKGLGFSI
241 AGGIGNQHIP GDNSIYITKI IEGGAAQKDG RLQIGDRLLA VNNTNLQDVR HEEAVASLKN
301 TSDMVYLKVA KPGSLHLNDM YAPPDYASTF TALADNHISH NSSLGYLGAV ESKVSYPAPP
361 QVPPTRYSPI PRHMLAEEDF TREPRKIILH KGSTGLGFNI VGGEDGEGIF VSFILAGGPA
421 DLSGELRRGD RILSVNGVNL RNATHEQAAA ALKRAGQSVT IVAQYRPEEY SRFESKIHDL
481 REQMMNSSMS SGSGSLRTSE KRSLYVRALF DYDRTRDSCL PSQGLSFSYG DILHVINASD
541 DEWWQARLVT PHGESEQIGV IPSKKRVEKK ERARLKTVKF HARTGMIESN RDFPGLSDDY
601 YGAKNLKGQE DAILSYEPVT RQEIHYARPV IILGPMKDRV NDDLISEFPH KFGSCVPHTT
661 RPRRDNEVDG QDYHFVVSRE QMEKDIQDNK FIEAGQFNDN LYGTSIQSVR AVAERGKHCI
721 LDVSGNAIKR LQQAQLYPIA IFIKPKSIEA LMEMNRRQTY EQANKIYDKA MKLEQEFGEY
781 FTAIVQGDSL EEIYNKIKQI IEDQSGHYIW VPSPEKLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DLG3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.4
- Highest tissue expression
- 34 nTPM
Expression across tissuesHPA
Tissue
- parathyroid gland: 34 nTPM
- pancreas: 34 nTPM
- epididymis: 24 nTPM
- salivary gland: 22 nTPM
- cerebral cortex: 21 nTPM
- esophagus: 20 nTPM
Single-cell type
- esophageal apical cells: 89 nCPM
- respiratory secretory cells: 72 nCPM
- pancreatic acinar cells: 67 nCPM
- lacrimal acinar cells: 67 nCPM
- salivary duct cells: 65 nCPM
- conjunctival goblet cells: 64 nCPM
Immune cell
- memory CD8 T-cell: 0.7 nTPM
- T-reg: 0.7 nTPM
- gdT-cell: 0.5 nTPM
- MAIT T-cell: 0.5 nTPM
- NK-cell: 0.5 nTPM
- memory CD4 T-cell: 0.4 nTPM
Brain region
- hippocampal formation: 40 nTPM
- cerebral cortex: 39 nTPM
- basal ganglia: 32 nTPM
- white matter: 25 nTPM
- amygdala: 24 nTPM
- hypothalamus: 21 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about DLG3.
Disease | AllUniProt
Conditions DLG3 is implicated in, by any mechanism.
- Intellectual developmental disorder, X-linked 90 (XLID90) MIM:300850
Disease | GeneticClinVar
40 pathogenic / likely-pathogenic of 381 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Intellectual disability, X-linked 90
- Inborn genetic diseases
- Intellectual disability
- DLG3-related disorder
- See cases
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.09
- gnomAD pLI
- 1
- gnomAD missense Z
- 2.88
- DepMap mean gene effect
- 0.06
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cell-cell adhesion
- chemical synaptic transmission
- establishment of planar polarity
- establishment or maintenance of epithelial cell apical/basal polarity
- negative regulation of cell population proliferation
- nervous system development
- protein localization to synapse
- receptor clustering
- receptor localization to synapse
- regulation of postsynaptic membrane neurotransmitter receptor levels
Molecular functions
- ionotropic glutamate receptor binding
- kinase binding
- phosphatase binding
- protein kinase binding
- ubiquitin protein ligase binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- SH3 domain
- PDZ domain
- Guanylate kinase-like domain
- Guanylate kinase/L-type calcium channel beta subunit
- Disks large 1-like
- Disks large homolog 1-4, PDZ-associated domain
- Disks large homologue 1, N-terminal PEST domain
- Guanylate kinase, conserved site
- P-loop containing nucleoside triphosphate hydrolase
- SH3-like domain superfamily
- PDZ superfamily
- Synaptic Scaffolding LAP/MAGUK Families
- SH3 domain
- PDZ domain
- Guanylate kinase
- PDZ-associated domain of NMDA receptors
- Disks Large homologue 3, SH3 domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of DLG3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DLG3 as an antibody target. Whether an autoantibody or antibody against DLG3 could matter depends on whether native DLG3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DLG3 is annotated at the cell surface, where native DLG3 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label DLG3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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