DLG3 (discs large MAGUK scaffold protein 3)

2003-02-01 Affiliation

Identity

HGNC

DLG3

LOCATION

Xq13.1

LOCUSID

1741

ALIAS

MRX,MRX90,NEDLG,PPP1R82,SAP102,XLMR

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 1741
MIM: 300189
HGNC: 2902
Ensembl: ENSG00000082458

Variants:

dbSNP: 1741
ClinVar: 1741
TCGA: ENSG00000082458
COSMIC: DLG3

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000082458	ENST00000194900	Q5JUW8
ENSG00000082458	ENST00000374355	Q92796
ENSG00000082458	ENST00000374360	Q92796
ENSG00000082458	ENST00000542398	Q92796

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Tight junction	KEGG	ko04530
Tight junction	KEGG	hsa04530
Hippo signaling pathway	KEGG	hsa04390
Hippo signaling pathway	KEGG	ko04390
Neuronal System	REACTOME	R-HSA-112316
Transmission across Chemical Synapses	REACTOME	R-HSA-112315
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell	REACTOME	R-HSA-112314
Activation of Kainate Receptors upon glutamate binding	REACTOME	R-HSA-451326
Ionotropic activity of Kainate Receptors	REACTOME	R-HSA-451306
Activation of Ca-permeable Kainate Receptor	REACTOME	R-HSA-451308
Developmental Biology	REACTOME	R-HSA-1266738
Axon guidance	REACTOME	R-HSA-422475
L1CAM interactions	REACTOME	R-HSA-373760
NrCAM interactions	REACTOME	R-HSA-447038
SALM protein interactions at the synapses	REACTOME	R-HSA-8849932
Protein-protein interactions at synapses	REACTOME	R-HSA-6794362
Interactions of neurexins and neuroligins at synapses	REACTOME	R-HSA-6794361

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
15185169	2004	Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation.	57
19086053	2009	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.	34
23103165	2012	SAP102 mediates synaptic clearance of NMDA receptors.	30
19795139	2010	A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation.	19
16482544	2006	Involvement of a cellular ubiquitin-protein ligase E6AP in the ubiquitin-mediated degradation of extensive substrates of high-risk human papillomavirus E6.	17
24507884	2014	Combined analysis of exon splicing and genome wide polymorphism data predict schizophrenia risk loci.	14
22745750	2012	Synapse associated protein 102 (SAP102) binds the C-terminal part of the scaffolding protein neurobeachin.	13
24739954	2014	Parallel mRNA and microRNA profiling of HEV71-infected human neuroblastoma cells reveal the up-regulation of miR-1246 in association with DLG3 repression.	12
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	11

Citation

Dessen P

DLG3 (discs large MAGUK scaffold protein 3)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/40334/dlg3-(discs-large-maguk-scaffold-protein-3)