DLG3 (discs large MAGUK scaffold protein 3)

2003-02-01  

Identity

HGNC
DLG3
LOCATION
Xq13.1
LOCUSID
1741
ALIAS
MRX,MRX90,NEDLG,PPP1R82,SAP102,XLMR
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000082458ENST00000194900Q5JUW8
ENSG00000082458ENST00000374355Q92796
ENSG00000082458ENST00000374360Q92796
ENSG00000082458ENST00000542398Q92796

Expression (GTEx)

0
5
10
15
20
25
30
35
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

PathwaySourceExternal ID
Tight junctionKEGGko04530
Tight junctionKEGGhsa04530
Hippo signaling pathwayKEGGhsa04390
Hippo signaling pathwayKEGGko04390
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic CellREACTOMER-HSA-112314
Activation of Kainate Receptors upon glutamate bindingREACTOMER-HSA-451326
Ionotropic activity of Kainate ReceptorsREACTOMER-HSA-451306
Activation of Ca-permeable Kainate ReceptorREACTOMER-HSA-451308
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
L1CAM interactionsREACTOMER-HSA-373760
NrCAM interactionsREACTOMER-HSA-447038
SALM protein interactions at the synapsesREACTOMER-HSA-8849932
Protein-protein interactions at synapsesREACTOMER-HSA-6794362
Interactions of neurexins and neuroligins at synapsesREACTOMER-HSA-6794361

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
382731652024Identification of a DLG3 stop mutation in the MRX20 family.1
382731652024Identification of a DLG3 stop mutation in the MRX20 family.1
325936522020Silence of lncRNA MIAT-mediated inhibition of DLG3 promoter methylation suppresses breast cancer progression via the Hippo signaling pathway.18
325936522020Silence of lncRNA MIAT-mediated inhibition of DLG3 promoter methylation suppresses breast cancer progression via the Hippo signaling pathway.18
312716642019High expression of DLG3 is associated with decreased survival from breast cancer.8
312716642019High expression of DLG3 is associated with decreased survival from breast cancer.8
292826972018Regulation of SAP102 Synaptic Targeting by Phosphorylation.9
292826972018Regulation of SAP102 Synaptic Targeting by Phosphorylation.9
287774832017Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.5
287774832017Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.5
272222902016A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability.3
272222902016A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability.3
274661882016Altered thalamocortical development in the SAP102 knockout model of intellectual disability.7
272222902016A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability.3
272222902016A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability.3

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/teaching-explorer/favicon/apple-touch-icon.png