Dlg3 MGI Mouse Gene Detail - MGI:1888986 - discs large MAGUK scaffold protein 3

Symbol

Dlg3
Name

discs large MAGUK scaffold protein 3
Synonyms

DLG3, Dlgh3, mKIAA1232, SAP102

Feature Type

protein coding gene
IDs

MGI:1888986
NCBI Gene: 53310
Alliance

genome feature page
Transcription Start Sites

8 TSS

Sequence Map

ChrX:99811328-99862016 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome X, 43.72 cM, cytoband C2
Mapping Data

1 experiment

SNPs within 2kb

826 from dbSNP Build 142
Strain Annotations

19

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1888986	protein coding gene	ChrX:99811200-99862016 (+)
129S1/SvImJ	ENSMUSG00200038005	protein coding gene	ChrX:81524018-81574708 (+)
A/J	ENSMUSG00195039584	protein coding gene	ChrX:85279157-85329886 (+)
AKR/J	ENSMUSG00220028732	protein coding gene	ChrX:79969885-80020619 (+)
BALB/cJ	ENSMUSG00180038678	protein coding gene	ChrX:81989545-82040271 (+)
C3H/HeJ	ENSMUSG00175041385	protein coding gene	ChrX:85650004-85700728 (+)
C57BL/6NJ	ENSMUSG00215045067	protein coding gene	ChrX:82179744-82230435 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0033276	protein coding gene	ChrX:95038989-95089905 (+)
CAST/EiJ	ENSTCUG00005039384	protein coding gene	ChrX:83040115-83091160 (+)
CBA/J	ENSMUSG00210039187	protein coding gene	ChrX:82420877-82471599 (+)
DBA/2J	ENSMUSG00185040126	protein coding gene	ChrX:94863486-94914158 (+)
FVB/NJ	ENSMUSG00205026381	protein coding gene	ChrX:81672733-81723463 (+)
JF1/MsJ	ENSUMUG00000026814	protein coding gene	ChrX:115453063-115504260 (+)
LP/J	ENSMUSG00230041503	protein coding gene	ChrX:101557558-101608239 (+)
NOD/ShiLtJ	ENSMUSG00190035918	protein coding gene	ChrX:81575334-81626012 (+)
NZO/HlLtJ	ENSMUSG00225045514	protein coding gene	ChrX:106648975-106699669 (+)
PWK/PhJ	ENSLUMG00010035341	protein coding gene	ChrX:80724140-80775080 (+)
SPRET/EiJ	ENSMSPG00010034336	protein coding gene	ChrX:85016124-85066804 (+)
WSB/EiJ	ENSIUOG00005038842	protein coding gene	ChrX:82115134-82165950 (+)

Human Ortholog

DLG3, discs large MAGUK scaffold protein 3

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

DLG3, discs large MAGUK scaffold protein 3
Synonyms

MRX, MRX90, NEDLG, PPP1R82, SAP102, XLID90, XLMR
Links

HGNC:2902

NCBI Gene ID: 1741

UniProt: Q92796
Chr Location

Xq13.1; chrX:70444835-70505490 (+) GRCh38

MGI Vertebrate Homology

Dlg3 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: DLG3
Protein SuperFamily

MAGUK_DLGH
Gene Tree

Dlg3

Diseases

1 with Dlg3 mouse models; 1 with human DLG3 associations

Human Disease

Mouse Models

non-syndromic X-linked intellectual disability

IDs

View 1 model

non-syndromic X-linked intellectual disability 90

IDs

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

16 phenotypes from 3 alleles in 4 genetic backgrounds
2 phenotypes from multigenic genotypes
3 images
29 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

32
Endonuclease-mediated

3
Gene trapped

23
Targeted

6
Incidental Mutations

APF , CvDC
Find Mice (IMSR)

30 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Male mice hemizygous for a knock-out allele show alterations in spatial learning, locomotor activation, LTP, and spike-timing-dependent plasticity. A portion of chimeras hemizygous for a gene trapped allele display forebrain deletion, posterior truncation, and failure to initiate embryo turning.

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All GO Annotations

65
GO References

22

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

642
Tissues

32
cDNA Data

78
Literature Summary

9

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

GEISHA DLG3

Xenbase dlg3

ZFIN dlg3

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All Sequences

86
RefSeq

30
UniProt

6
CCDS

CCDS30307.1, CCDS53148.1, CCDS53149.1, CCDS72413.1

Ensembl

ENSMUSG00000000881 (Evidence)
NCBI Gene

53310

			Length	Strain/Species	Flank
genomic	ENSMUSG00000000881	Ensembl Gene Model \| MGI Sequence Detail	50689	C57BL/6J	± kb
transcript	ENSMUST00000087984	Ensembl \| MGI Sequence Detail	4956	Not Applicable
polypeptide	ENSMUSP00000085299	Ensembl \| MGI Sequence Detail	849	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000006513 disks large homolog 3

(term hierarchy)
InterPro Domains

IPR016313 Disks large 1-like

IPR019583 Disks large homolog 1-4, PDZ-associated domain

IPR019590 Disks large homologue 1, N-terminal PEST domain

IPR035763 Disks Large homologue 3, SH3 domain

IPR020590 Guanylate kinase, conserved site

IPR008144 Guanylate kinase-like domain

IPR008145 Guanylate kinase/L-type calcium channel beta subunit

IPR001478 PDZ domain

IPR036034 PDZ superfamily

IPR027417 P-loop containing nucleoside triphosphate hydrolase

IPR001452 SH3 domain

IPR036028 SH3-like domain superfamily

IPR050614 Synaptic Scaffolding LAP/MAGUK Families
GlyGen

P70175 7 sites, 4 N-linked glycans (5 sites), 1 O-linked glycan (1 site)

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All nucleic 81

Genomic 2

cDNA 78

Primer pair 1

Microarray probesets 3

Summaries

All 88

Developmental Gene Expression 9

Diseases 1

Gene Ontology 22

Phenotypes 29
Earliest

J:48003 Lin L, et al., cDNA sequence and chromosomal localization of mouse Dlgh3 gene adjacent to the BRCA1 tumor suppressor locus. Biochim Biophys Acta. 1998 Nov 26;1443(1-2):211-6
Latest

J:390257 Gao S, et al., Mll5 haploinsufficiency attenuates microglial phagocytosis through dysregulated TREM2-SGK3-GSK3beta signaling and recapitulates ASD-like behaviors in mice. Nat Commun. 2026 Apr 17;17(1)

TSS for Dlg3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr161627	ChrX:99811325-99811348 (+)	9 bp
Tssr161628	ChrX:99818396-99818413 (+)	7,077 bp
Tssr161629	ChrX:99820849-99820874 (+)	9,534 bp
Tssr161630	ChrX:99820879-99820902 (+)	9,563 bp
Tssr161631	ChrX:99820912-99820919 (+)	9,588 bp
Tssr161632	ChrX:99839055-99839082 (+)	27,741 bp
Tssr5654	ChrX:99840187-99840226 (+)	28,879 bp
Tssr161633	ChrX:99842021-99842037 (+)	30,701 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 09/01/2026 MGI 6.24