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This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. It heteromultimerizes with another MAGUK protein, DLG2, and is recruited into NMDA receptor and potassium channel clusters. These two MAGUK proteins may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
DLG4 (Discs Large MAGUK Scaffold Protein 4) is a Protein Coding gene. Diseases associated with DLG4 include Pearson Marrow-Pancreas Syndrome and Acyl-Coa Dehydrogenase Deficiency. Among its related pathways are RET signaling and Cytokine Signaling in Immune system. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and protein C-terminus binding. An important paralog of this gene is DLG1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA,IPI | 7477295 |
GO:0008022 | protein C-terminus binding | IPI | 7477295 |
GO:0019900 | kinase binding | IDA | 21119615 |
GO:0019903 | protein phosphatase binding | ISS | -- |
GO:0030165 | PDZ domain binding | ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA,ISS | -- |
GO:0005783 | endoplasmic reticulum | ISS | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0005886 | plasma membrane | ISS,TAS | -- |
GO:0008021 | synaptic vesicle | ISS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
|
.92
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2 | Post NMDA receptor activation events | ||
3 | Presynaptic function of Kainate receptors | ||
4 | Transmission across Chemical Synapses |
.62
|
|
5 | Developmental Biology |
.51
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000165 | MAPK cascade | TAS | -- |
GO:0002091 | negative regulation of receptor internalization | ISS | -- |
GO:0007165 | signal transduction | TAS | 10364559 |
GO:0007204 | positive regulation of cytosolic calcium ion concentration | ISS | -- |
GO:0007268 | chemical synaptic transmission | IBA,TAS | 21873635 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - |
ExUns: | 21b | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25a | · | 25b |
---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||
SP2: | |||||||||||
SP3: | |||||||||||
SP4: | |||||||||||
SP5: | - | ||||||||||
SP6: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | DLG4 33 32 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | DLG4 33 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | DLG4 33 32 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Dlg4 32 |
|
||
mouse (Mus musculus) |
Mammalia | Dlg4 17 33 32 |
|
||
dog (Canis familiaris) |
Mammalia | DLG4 33 32 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | DLG4 33 |
|
OneToOne | |
African clawed frog (Xenopus laevis) |
Amphibia | Xl.31985 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | DLG4 (2 of 2) 33 |
|
OneToMany | |
dlg4b 33 |
|
OneToMany | |||
dlg4 32 |
|
||||
fruit fly (Drosophila melanogaster) |
Insecta | dlg1 33 34 |
|
OneToMany | |
worm (Caenorhabditis elegans) |
Secernentea | dlg-1 33 34 |
|
OneToMany | |
sea squirt (Ciona savignyi) |
Ascidiacea | CSA.5033 33 |
|
OneToMany |
SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1032857886 | uncertain-significance, Very long chain acyl-CoA dehydrogenase deficiency | 7,221,020(-) | C/T | upstream_transcript_variant | |
rs1057516369 | likely-pathogenic, Very long chain acyl-CoA dehydrogenase deficiency | 7,221,557(-) | TC/ | upstream_transcript_variant | |
rs1057516714 | likely-pathogenic, Very long chain acyl-CoA dehydrogenase deficiency | 7,221,970(-) | TCTGTCT/TCT | upstream_transcript_variant | |
rs1057516817 | likely-pathogenic, Very long chain acyl-CoA dehydrogenase deficiency | 7,220,199(-) | T/C | upstream_transcript_variant | |
rs1057516979 | likely-pathogenic, Very long chain acyl-CoA dehydrogenase deficiency | 7,220,795(-) | AAA/A | upstream_transcript_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2422288 | CNV | deletion | 17116639 |
esv2665200 | CNV | deletion | 23128226 |
esv2715598 | CNV | deletion | 23290073 |
esv2715599 | CNV | deletion | 23290073 |
esv3639861 | CNV | loss | 21293372 |
nsv1071329 | CNV | deletion | 25765185 |
nsv1143846 | CNV | deletion | 24896259 |
nsv1144788 | CNV | deletion | 24896259 |
nsv1962 | CNV | insertion | 18451855 |
nsv457659 | CNV | loss | 19166990 |
nsv574322 | CNV | loss | 21841781 |
nsv952118 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
pearson marrow-pancreas syndrome |
|
|
acyl-coa dehydrogenase deficiency |
|
|
sciatic neuropathy |
|
|
lesion of sciatic nerve |
|
|
huntington disease |
|
|