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DLG3 - discs large MAGUK scaffold protein 3 Gene

Also Known as MRX; XLMR; MRX90; NEDLG; SAP102; XLID90; PPP1R82

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1741

About DLG3

Cytogenetic location: Xq13.1 Genomic coordinates (GRCh38): X:70,444,835-70,505,490 (from NCBI)

This gene has 10 transcripts (splice variants), 217 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 7.8), colon (RPKM 6.2) and 23 other tissues.

Summary

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]

DLG3 Products (3)

mRNA	Protein	Name
NM_001166278.2	NP_001159750.1	disks large homolog 3 isoform c
NM_020730.3	NP_065781.1	disks large homolog 3 isoform b
NM_021120.4	NP_066943.2	disks large homolog 3 isoform a

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables kinase binding	IDA IDA: Inferred from direct assay	21119615	GOA
enables phosphatase binding	IDA IDA: Inferred from direct assay	19389623	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19118189	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DLG3 Protein Structure

MAGUK_N_PEST

PDZ

PDZ_assoc

PDZ

SH3_1

Guanylate_kin

0
200
400
600
817 a.a.

Protein Preferred Names	Protein Names
disks large homolog 3	discs, large homolog 3

DLG3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	DLG3	Q92796	DLGAP2	Homo sapiens	Q9P1A6-3	Validated Y2H	32296183
Intra	DLG3	Q92796	OSBP2	Homo sapiens	Q969R2-2	Validated Y2H	32296183
Intra	DLG3	Q92796	PPP1CA	Homo sapiens	P62136	Pull Down	19389623
Intra	DLG3	Q92796	PLEKHA2	Homo sapiens	Q9HB19	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Intellectual Developmental Disorder, X-Linked 90	XLID90 Mrx90
Non-Syndromic X-Linked Intellectual Disability	X-Linked Non-Syndromic Intellectual Disability Non-Specific X-Linked Mental Retardation X-Linked Non-Specific Intellectual Disability
Syndromic X-Linked Intellectual Disability	X-Linked Syndromic Intellectual Disability
Non-Syndromic X-Linked Intellectual Disability 90	Mrx90
Chromosome 3q29 Deletion Syndrome	Chromosome 3q29 Microdeletion Syndrome 3q29 Microdeletion Syndrome 3q Subtelomere Deletion Syndrome 3q29 Recurrent Deletion 3qter Deletion 3q29 Deletion Syndrome Monosomy 3q29 Microdeletion 3q29 Syndrome Del(3)(Q29) Monosomy 3qter 3q29 Deletion Del3q29
Acquired Color Blindness	Acquired Color Vision Deficiencies Acquired Color Vision Deficiency Acquired Colour Blindness Acquired Colour Vision Deficiencies Acquired Colour Vision Deficiency
Bipolar Disorder	Bipolar Depression Manic Disorder Depression, Bipolar Bipolar Disorder Manic Phase Depressive-Manic Psych. Manic Bipolar Affective Disorder Manic Bipolar I Disorder Manic Depression Manic Depressive Disorder Mixed Bipolar Disorder Bipolar Affective Disorder Bipolar Affective Psychosis Bipolar Spectrum Disorder Manic Depressive Illness Depression Bipolar Bipolar Disorder, Mixed Major Affective Disorder Major Affective Disorder 1 Major Affective Disorder 2
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Immunodeficiency 46	Tfrc-Related Combined Immunodeficiency IMD46 Cid Due To Tfrc Deficiency Combined Immunodeficiency Due To Tfrc Deficiency
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03798	DLG3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS08624	MPP3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20714	Dlg3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27225	Dlg3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	DLG3	MGD	MGI:1888986
Rattus norvegicus	DLG3	RGD	RGD:68423
Macaca mulatta	DLG3	VGNC	VGNC:71919
Bos taurus	DLG3	VGNC	VGNC:56704
Others	DLG3	NCBI