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

gene 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

83 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1888986	protein coding gene	ChrX:99811200-99862016 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0035949	protein coding gene	ChrX:97236261-97291398 (+)
A/J	MGP_AJ_G0035934	protein coding gene	ChrX:97266145-97320566 (+)
AKR/J	MGP_AKRJ_G0035850	protein coding gene	ChrX:100059321-100113275 (+)
BALB/cJ	MGP_BALBcJ_G0035917	protein coding gene	ChrX:96007053-96059507 (+)
C3H/HeJ	MGP_C3HHeJ_G0035626	protein coding gene	ChrX:97655119-97711922 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0036446	protein coding gene	ChrX:100137462-100193121 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0033276	protein coding gene	ChrX:95038989-95089905 (+)
CAST/EiJ	MGP_CASTEiJ_G0034913	protein coding gene	ChrX:81961882-82016217 (+)
CBA/J	MGP_CBAJ_G0035601	protein coding gene	ChrX:103240215-103297551 (+)
DBA/2J	MGP_DBA2J_G0035755	protein coding gene	ChrX:96469023-96528136 (+)
FVB/NJ	MGP_FVBNJ_G0035693	protein coding gene	ChrX:95865155-95915273 (+)
LP/J	MGP_LPJ_G0035845	protein coding gene	ChrX:98210875-98268077 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0035728	protein coding gene	ChrX:107769505-107827323 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0036473	protein coding gene	ChrX:96945552-97003035 (+)
PWK/PhJ	MGP_PWKPhJ_G0034612	protein coding gene	ChrX:79577763-79630890 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0034440	protein coding gene	ChrX:82851744-82907203 (+)
WSB/EiJ	MGP_WSBEiJ_G0035052	protein coding gene	ChrX:95656239-95712533 (+)

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

neXtProt AC: NX_Q92796

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
23 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

29
Gene trapped

23
Targeted

6
Incidental Mutations

APF , CvDC
Find Mice (IMSR)

28 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

54
GO References

21

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	non-membrane-bounded 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

751
Tissues

32
cDNA Data

78
Literature Summary

7

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

84
RefSeq

30
UniProt

5
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

5 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

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All nucleic 81

Genomic 2

cDNA 78

Primer pair 1

Microarray probesets 3

Summaries

All 76

Developmental Gene Expression 7

Diseases 1

Gene Ontology 21

Phenotypes 23
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:337062 Bygrave AM, et al., Btbd11 supports cell-type-specific synaptic function. Cell Rep. 2023 May 31;42(6):112591

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 04/16/2024 MGI 6.23