Gene table of DLG3 : discs large MAGUK scaffold protein 3

Gene-disease associations table

Disease ID	Disease name	Source of annotation with DLG3	OMIM link	Number of associated genes	genes
PS309530	MENTAL RETARDATION, NONSYNDROMIC, X-LINKED	ClinVar, OMIM	link to OMIM	25	THOC2, HCFC1, RPS6KA3, USP9X, MID2, RAB39B, KIAA2022, ZNF81, PAK3, IQSEC2, DLG3, TSPAN7, ZDHHC15, ZNF711, KIF4A, ACSL4, BRWD3, IL1RAPL1, GDI1, SYP, ARHGEF6, ARX, DDX3X, GRIA3, FTSJ1

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Annotation of the gene DLG3

Associated genes in ENSEMBL

ENSG00000082458

Associated proteins - SwissProt Accession ID

Q92796

Associated PDB IDs

Cytogenetic Band

Xq13.1

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Hippo signaling pathway	hsa04390	5.37

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Activation of Ca-permeable Kainate Receptor	R-HSA-451308	9.66
L1CAM interactions	R-HSA-373760	6.19
Activation of Kainate Receptors upon glutamate binding	R-HSA-451326	8.08
Ionotropic activity of Kainate Receptors	R-HSA-451306	9.66
NrCAM interactions	R-HSA-447038	10.18
Neuronal System	R-HSA-112316	4.82
Axon guidance	R-HSA-422475	3.93
Transmission across Chemical Synapses	R-HSA-112315	5.28
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell	R-HSA-112314	5.85
Developmental Biology	R-HSA-1266738	3.48

Associated GO terms for Molecular function

GO term	GO ID	GO IC
protein C-terminus binding	GO:0008022	4.5
nucleotide kinase activity	GO:0019201	6.52
ubiquitin-like protein ligase binding	GO:0044389	4.15
nucleobase-containing compound kinase activity	GO:0019205	5.85
enzyme binding	GO:0019899	2.27
molecular transducer activity	GO:0060089	2.32
binding	GO:0005488	0.18
ligand-gated ion channel activity	GO:0015276	4.8
transferase activity	GO:0016740	1.95
substrate-specific transporter activity	GO:0022892	2.72
passive transmembrane transporter activity	GO:0022803	3.6
PDZ domain binding	GO:0030165	5.22
transporter activity	GO:0005215	2.57
ion channel activity	GO:0005216	3.71
kinase activity	GO:0016301	2.93
guanylate kinase activity	GO:0004385	7.25
ionotropic glutamate receptor binding	GO:0035255	6.56
glutamate receptor binding	GO:0035254	6.13
catalytic activity	GO:0003824	1.05
protein phosphatase binding	GO:0019903	4.93
phosphatase binding	GO:0019902	4.63
protein domain specific binding	GO:0019904	3.32
substrate-specific transmembrane transporter activity	GO:0022891	2.9
ubiquitin protein ligase binding	GO:0031625	4.17
kinase binding	GO:0019900	3.32
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
phosphotransferase activity, phosphate group as acceptor	GO:0016776	6.02
ion transmembrane transporter activity	GO:0015075	3.04
transmembrane transporter activity	GO:0022857	2.82
channel activity	GO:0015267	3.6
gated channel activity	GO:0022836	3.96
protein binding	GO:0005515	0.46
ligand-gated channel activity	GO:0022834	4.8
receptor binding	GO:0005102	2.43
substrate-specific channel activity	GO:0022838	3.67
transmembrane receptor activity	GO:0099600	2.53
receptor activity	GO:0004872	2.32