Dlg4 MGI Mouse Gene Detail - MGI:1277959 - discs large MAGUK scaffold protein 4

Symbol

Dlg4
Name

discs large MAGUK scaffold protein 4
Synonyms

Dlgh4, PSD-95, PSD95, SAP90, SAP90A

Feature Type

protein coding gene
IDs

MGI:1277959
NCBI Gene: 13385
Alliance

gene page
Transcription Start Sites

18 TSS

Sequence Map

Chr11:69908029-69938107 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 42.96 cM, cytoband B4
Mapping Data

1 experiment

SNPs within 2kb

222 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1277959	protein coding gene	Chr11:69907768-69938348 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0018579	protein coding gene	Chr11:70516623-70546535 (+)
A/J	MGP_AJ_G0018547	protein coding gene	Chr11:67842022-67871277 (+)
AKR/J	MGP_AKRJ_G0018516	protein coding gene	Chr11:69863205-69893269 (+)
BALB/cJ	MGP_BALBcJ_G0018519	protein coding gene	Chr11:68171127-68200295 (+)
C3H/HeJ	MGP_C3HHeJ_G0018332	protein coding gene	Chr11:69903121-69932125 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0018970	protein coding gene	Chr11:72633630-72663909 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016615	protein coding gene	Chr11:64766308-64794385 (+)
CAST/EiJ	MGP_CASTEiJ_G0017887	protein coding gene	Chr11:70146251-70181530 (+)
CBA/J	MGP_CBAJ_G0018304	protein coding gene	Chr11:75896147-75930123 (+)
DBA/2J	MGP_DBA2J_G0018414	protein coding gene	Chr11:67426341-67454961 (+)
FVB/NJ	MGP_FVBNJ_G0018404	protein coding gene	Chr11:67073600-67102590 (+)
LP/J	MGP_LPJ_G0018484	protein coding gene	Chr11:71093006-71126545 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0018427	protein coding gene	Chr11:76487198-76516218 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0019012	protein coding gene	Chr11:70138305-70167617 (+)
PWK/PhJ	MGP_PWKPhJ_G0017661	protein coding gene	Chr11:68079336-68109075 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0017451	protein coding gene	Chr11:69952846-69980892 (+)
WSB/EiJ	MGP_WSBEiJ_G0017941	protein coding gene	Chr11:69802290-69833505 (+)

Human Ortholog

DLG4, discs large MAGUK scaffold protein 4

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

DLG4, discs large MAGUK scaffold protein 4
Synonyms

MRD62, PSD95, SAP-90, SAP90
Links

HGNC:2903

NCBI Gene ID: 1742

neXtProt AC: NX_P78352

UniProt: P78352
Chr Location

17p13.1; chr17:7187187-7220050 (-) GRCh38

MGI Vertebrate Homology

Dlg4 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: DLG4
Protein SuperFamily

MAGUK_DLGH
Gene Tree

Dlg4

Diseases

2 with Dlg4 mouse models; 1 with human DLG4 associations

Human Disease

Mouse Models

autism spectrum disorder

IDs

View 1 model

Williams-Beuren syndrome

IDs

View 1 model

autosomal dominant intellectual developmental disorder

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

53 phenotypes from 7 alleles in 7 genetic backgrounds
3 phenotypes from multigenic genotypes
77 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

22
Chemically induced (other)

1
Endonuclease-mediated

4
Gene trapped

1
Targeted

16
Genomic Mutations

2 involving Dlg4
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

44 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes for a targeted null mutation exhibit severely impaired spatial learning, alterations in long-term potentiation and depression, and lack of hyperalgesia responses in a neuropathic pain model.

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All GO Annotations

216
GO References

102

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

983
Tissues

67
cDNA Data

12
Literature Summary

156

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

Xenbase dlg4

ZFIN dlg4b

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All Sequences

105
RefSeq

25
UniProt

14
CCDS

CCDS36202.1, CCDS48829.1, CCDS88178.1, CCDS88179.1

Ensembl

ENSMUSG00000020886 (Evidence)
NCBI Gene

13385

			Length	Strain/Species	Flank
genomic	13385	NCBI Gene Model \| MGI Sequence Detail	30079	C57BL/6J	± kb
transcript	NM_001430918	RefSeq \| MGI Sequence Detail	3413	C57BL/6
polypeptide	Q62108	UniProt \| EBI \| MGI Sequence Detail	724	Not Applicable

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UniProt

14 Sequences
Protein Ontology

PR:000006514 disks large homolog 4

(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

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

Q62108 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)

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All nucleic 16

cDNA 13

Primer pair 3

Microarray probesets 5

Summaries

All 425

Developmental Gene Expression 156

Diseases 1

Gene Ontology 102

Phenotypes 77
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:355331 Mao Y, et al., Advanced paternal age exacerbates neuroinflammation in offspring via m6A modification-mediated intergenerational inheritance. J Neuroinflammation. 2024 Oct 4;21(1):249

TSS for Dlg4:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr102628	Chr11:69907957-69907972 (+)	-64 bp
Tssr102629	Chr11:69908025-69908034 (+)	1 bp
Tssr102630	Chr11:69908896-69908918 (+)	878 bp
Tssr102631	Chr11:69909222-69909225 (+)	1,195 bp
Tssr102632	Chr11:69909247-69909310 (+)	1,250 bp
Tssr102633	Chr11:69909660-69909673 (+)	1,638 bp
Tssr102634	Chr11:69914748-69914784 (+)	6,737 bp
Tssr102635	Chr11:69917641-69917679 (+)	9,631 bp
Tssr102636	Chr11:69920639-69920663 (+)	12,622 bp
Tssr102637	Chr11:69920898-69920909 (+)	12,875 bp
Tssr102638	Chr11:69920956-69920967 (+)	12,933 bp
Tssr102639	Chr11:69922200-69922211 (+)	14,177 bp
Tssr102640	Chr11:69925790-69925798 (+)	17,765 bp
Tssr102641	Chr11:69929357-69929379 (+)	21,339 bp
Tssr102642	Chr11:69929388-69929413 (+)	21,372 bp
Tssr102643	Chr11:69933922-69933933 (+)	25,899 bp
Tssr102644	Chr11:69935427-69935429 (+)	27,399 bp
Tssr102645	Chr11:69936145-69936149 (+)	28,118 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)
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