DLG4 (discs large MAGUK scaffold protein 4)

2014-08-01 Affiliation

Identity

HGNC

DLG4

LOCATION

17p13.1

LOCUSID

1742

ALIAS

MRD62,PSD95,SAP-90,SAP90

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: 1742
MIM: 602887
HGNC: 2903
Ensembl: ENSG00000132535

Variants:

dbSNP: 1742
ClinVar: 1742
TCGA: ENSG00000132535
COSMIC: DLG4

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000132535	ENST00000302955	P78352
ENSG00000132535	ENST00000399506	P78352
ENSG00000132535	ENST00000399510	B9EGL1
ENSG00000132535	ENST00000447163	C9JWP9
ENSG00000132535	ENST00000451807	C9JYG3
ENSG00000132535	ENST00000485100	O14909
ENSG00000132535	ENST00000486626	K7EKP9
ENSG00000132535	ENST00000491753	B7Z3U2
ENSG00000132535	ENST00000493294	K7EKU8
ENSG00000132535	ENST00000647975	A0A3B3ITI9
ENSG00000132535	ENST00000648172	P78352
ENSG00000132535	ENST00000648263	A0A3B3IU19
ENSG00000132535	ENST00000648658	A0A3B3IRP2
ENSG00000132535	ENST00000648760	A0A3B3ISL1
ENSG00000132535	ENST00000648896	A0A3B3ISQ5
ENSG00000132535	ENST00000649186	B7Z647
ENSG00000132535	ENST00000649520	B7Z647
ENSG00000132535	ENST00000649971	A0A3B3IS17
ENSG00000132535	ENST00000650120	A0A3B3ISR0
ENSG00000132535	ENST00000650301	A0A3B3ITD1

Expression (GTEx)

100

150

200

250

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
Huntington's disease	KEGG	ko05016
Huntington's disease	KEGG	hsa05016
Glutamatergic synapse	KEGG	ko04724
Glutamatergic synapse	KEGG	hsa04724
Cocaine addiction	KEGG	hsa05030
Cocaine addiction	KEGG	ko05030
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
Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity	REACTOME	R-HSA-399721
Trafficking of AMPA receptors	REACTOME	R-HSA-399719
Activation of NMDA receptor upon glutamate binding and postsynaptic events	REACTOME	R-HSA-442755
Unblocking of NMDA receptor, glutamate binding and activation	REACTOME	R-HSA-438066
Post NMDA receptor activation events	REACTOME	R-HSA-438064
CREB phosphorylation through the activation of Ras	REACTOME	R-HSA-442742
Ras activation uopn Ca2+ infux through NMDA receptor	REACTOME	R-HSA-442982
CREB phosphorylation through the activation of CaMKII	REACTOME	R-HSA-442729
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
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
DAP12 interactions	REACTOME	R-HSA-2172127
DAP12 signaling	REACTOME	R-HSA-2424491
RAF/MAP kinase cascade	REACTOME	R-HSA-5673001
Fc epsilon receptor (FCERI) signaling	REACTOME	R-HSA-2454202
FCERI mediated MAPK activation	REACTOME	R-HSA-2871796
Cytokine Signaling in Immune system	REACTOME	R-HSA-1280215
Signaling by Interleukins	REACTOME	R-HSA-449147
Interleukin-2 signaling	REACTOME	R-HSA-451927
Interleukin receptor SHC signaling	REACTOME	R-HSA-912526
Interleukin-3, 5 and GM-CSF signaling	REACTOME	R-HSA-512988
Signal Transduction	REACTOME	R-HSA-162582
Signaling by EGFR	REACTOME	R-HSA-177929
GRB2 events in EGFR signaling	REACTOME	R-HSA-179812
SHC1 events in EGFR signaling	REACTOME	R-HSA-180336
Signaling by Insulin receptor	REACTOME	R-HSA-74752
Insulin receptor signalling cascade	REACTOME	R-HSA-74751
IRS-mediated signalling	REACTOME	R-HSA-112399
SOS-mediated signalling	REACTOME	R-HSA-112412
Signalling by NGF	REACTOME	R-HSA-166520
NGF signalling via TRKA from the plasma membrane	REACTOME	R-HSA-187037
Signalling to ERKs	REACTOME	R-HSA-187687
Signalling to RAS	REACTOME	R-HSA-167044
Signalling to p38 via RIT and RIN	REACTOME	R-HSA-187706
Prolonged ERK activation events	REACTOME	R-HSA-169893
Frs2-mediated activation	REACTOME	R-HSA-170968
ARMS-mediated activation	REACTOME	R-HSA-170984
Signaling by PDGF	REACTOME	R-HSA-186797
Downstream signal transduction	REACTOME	R-HSA-186763
Signaling by VEGF	REACTOME	R-HSA-194138
VEGFA-VEGFR2 Pathway	REACTOME	R-HSA-4420097
VEGFR2 mediated cell proliferation	REACTOME	R-HSA-5218921
Signaling by SCF-KIT	REACTOME	R-HSA-1433557
MAPK family signaling cascades	REACTOME	R-HSA-5683057
MAPK1/MAPK3 signaling	REACTOME	R-HSA-5684996
Signaling by Rho GTPases	REACTOME	R-HSA-194315
RHO GTPase Effectors	REACTOME	R-HSA-195258
RHO GTPases activate CIT	REACTOME	R-HSA-5625900
Signaling by GPCR	REACTOME	R-HSA-372790
Gastrin-CREB signalling pathway via PKC and MAPK	REACTOME	R-HSA-881907
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)	REACTOME	R-HSA-2404192
IGF1R signaling cascade	REACTOME	R-HSA-2428924
IRS-related events triggered by IGF1R	REACTOME	R-HSA-2428928
Signaling by Leptin	REACTOME	R-HSA-2586552
Developmental Biology	REACTOME	R-HSA-1266738
Axon guidance	REACTOME	R-HSA-422475
NCAM signaling for neurite out-growth	REACTOME	R-HSA-375165
L1CAM interactions	REACTOME	R-HSA-373760
NrCAM interactions	REACTOME	R-HSA-447038
LGI-ADAM interactions	REACTOME	R-HSA-5682910
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
RET signaling	REACTOME	R-HSA-8853659

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
17916412	2007	Synaptophysin and postsynaptic density protein 95 in the human prefrontal cortex from mid-gestation into early adulthood.	75
19774677	2010	Decreased levels of PSD95 and two associated proteins and increased levels of BCl2 and caspase 3 in hippocampus from subjects with amnestic mild cognitive impairment: Insights into their potential roles for loss of synapses and memory, accumulation of Abeta, and neurodegeneration in a prodromal stage of Alzheimer's disease.	58
20921115	2010	Biological validation of increased schizophrenia risk with NRG1, ERBB4, and AKT1 epistasis via functional neuroimaging in healthy controls.	49
12682061	2003	A direct interaction of PSD-95 with 5-HT2A serotonin receptors regulates receptor trafficking and signal transduction.	48
20201926	2010	Human variation in alcohol response is influenced by variation in neuronal signaling genes.	45
16332682	2006	Apolipoprotein E receptor 2 interactions with the N-methyl-D-aspartate receptor.	40
19483657	2009	Decreased expression of NMDA receptor-associated proteins in frontal cortex of elderly patients with schizophrenia.	39
21849550	2011	TrkB and protein kinase Mζ regulate synaptic localization of PSD-95 in developing cortex.	36
18570704	2009	Elevated levels of NR2A and PSD-95 in the lateral amygdala in depression.	34

Citation

Dessen P

DLG4 (discs large MAGUK scaffold protein 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54255/dlg4