DLG3 - discs large MAGUK scaffold protein 3 Gene

Homo sapiens

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

Gene ID: 1741 | Gene type: protein coding

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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03798	DLG3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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