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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 Intellectual Developmental Disorder 62 and Cerebral Degeneration. Among its related pathways are Neuroscience and RET signaling. 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:0005623 | cell | IEA | -- |
GO:0005737 | cytoplasm | IEA,ISS | -- |
GO:0005783 | endoplasmic reticulum | IEA,ISS | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0005886 | plasma membrane | ISS,TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
|
.92
|
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 | TAS,IBA | 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 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | DLG4 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | DLG4 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Dlg4 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Dlg4 30 17 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DLG4 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | DLG4 31 |
|
OneToOne | |
African clawed frog (Xenopus laevis) |
Amphibia | Xl.31985 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | DLG4 (2 of 2) 31 |
|
OneToMany | |
dlg4b 31 |
|
OneToMany | |||
dlg4 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | dlg1 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | dlg-1 31 32 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.5033 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
689717 | Likely Pathogenic: INTELLECTUAL DEVELOPMENTAL DISORDER 62; Marfanoid habitus and intellectual disability | 7,193,096(-) | TC/T | FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
689718 | Likely Pathogenic: INTELLECTUAL DEVELOPMENTAL DISORDER 62; Marfanoid habitus and intellectual disability | 7,196,814(-) | CAGGATAAA/C | FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
689720 | Likely Pathogenic: INTELLECTUAL DEVELOPMENTAL DISORDER 62; Marfanoid habitus and intellectual disability | 7,193,842(-) | A/G | SPLICE_DONOR_VARIANT | |
724789 | Likely Benign: not provided | 7,193,848(-) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
734483 | Benign: not provided | 7,203,470(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_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 |
---|---|---|
intellectual developmental disorder 62 |
|
|
cerebral degeneration |
|
|
kaufman oculocerebrofacial syndrome |
|
|
acyl-coa dehydrogenase deficiency |
|
|
huntington disease |
|
|