• Gene id: 1741

Gene Summary

• Gene Symbol: DLG3   Gene   UCSC   Ensembl
• Aliases: MRX, MRX90, NEDLG, PPP1R82, SAP102, XLMR
• Gene name: discs large MAGUK scaffold protein 3
• Alternate names: disks large homolog 3, discs, large homolog 3, neuroendocrine-DLG, protein phosphatase 1, regulatory subunit 82, synapse-associated protein 102,
• Gene location: Xq13.1 (70444834: 70505489)     Exons: 26     NC_000023.11
• Gene summary(Entrez): This gene encodes a member of the membrane-associated guanylate kinase protein family. The encoded protein may play a role in clustering of NMDA receptors at excitatory synapses. It may also negatively regulate cell proliferation through interaction with
• OMIM: 603475

Protein Summary

• Protein general information: Q92796  
  • Name: Disks large homolog 3 (Neuroendocrine DLG) (Synapse associated protein 102) (SAP 102) (SAP102) (XLMR)
  • Length: 817  
  • Mass: 90314
• Sequence:

  MHKHQHCCKCPECYEVTRLAALRRLEPPGYGDWQVPDPYGPGGGNGASAGYGGYSSQTLPSQAGATPTPRTKAKL
  IPTGRDVGPVPPKPVPGKSTPKLNGSGPSWWPECTCTNRDWYEQVNGSDGMFKYEEIVLERGNSGLGFSIAGGID
  NPHVPDDPGIFITKIIPGGAAAMDGRLGVNDCVLRVNEVDVSEVVHSRAVEALKEAGPVVRLVVRRRQPPPETIM
  EVNLLKGPKGLGFSIAGGIGNQHIPGDNSIYITKIIEGGAAQKDGRLQIGDRLLAVNNTNLQDVRHEEAVASLKN
  TSDMVYLKVAKPGSLHLNDMYAPPDYASTFTALADNHISHNSSLGYLGAVESKVSYPAPPQVPPTRYSPIPRHML
  AEEDFTREPRKIILHKGSTGLGFNIVGGEDGEGIFVSFILAGGPADLSGELRRGDRILSVNGVNLRNATHEQAAA
  ALKRAGQSVTIVAQYRPEEYSRFESKIHDLREQMMNSSMSSGSGSLRTSEKRSLYVRALFDYDRTRDSCLPSQGL
  SFSYGDILHVINASDDEWWQARLVTPHGESEQIGVIPSKKRVEKKERARLKTVKFHARTGMIESNRDFPGLSDDY
  YGAKNLKGQEDAILSYEPVTRQEIHYARPVIILGPMKDRVNDDLISEFPHKFGSCVPHTTRPRRDNEVDGQDYHF
  VVSREQMEKDIQDNKFIEAGQFNDNLYGTSIQSVRAVAERGKHCILDVSGNAIKRLQQAQLYPIAIFIKPKSIEA
  LMEMNRRQTYEQANKIYDKAMKLEQEFGEYFTAIVQGDSLEEIYNKIKQIIEDQSGHYIWVPSPEKL

• Structural information:
  • Protein Domains: (130..21-)
    (/note="PDZ-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (226..31-)
    (/note="PDZ-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (379..46-)
    (/note="PDZ-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (-)
  • Interpro: IPR016313  IPR019590  IPR035763  IPR008145  IPR008144   IPR020590  IPR027417  IPR001478  IPR019583  IPR036034  IPR036028  IPR001452  
  • Prosite: PS00856 PS50052 PS50106 PS50002
  • CDD: cd12029
  • PDB: 1UM7 2FE5 2I1N
  • PDBsum: 1UM7 2FE5 2I1N
  • STRING: ENSP00000363480
• Other Databases: GeneCards:  DLG3  Malacards:  DLG3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0061098	positive regulation of protein tyrosine kinase activity	ISS	biological process
GO:0008328	ionotropic glutamate receptor complex	IBA	colocalizes with
GO:0016323	basolateral plasma membrane	IBA	cellular component
GO:0030054	cell junction	IBA	cellular component
GO:0097120	receptor localization to synapse	IBA	biological process
GO:0098609	cell-cell adhesion	IBA	biological process
GO:0043113	receptor clustering	IBA	biological process
GO:0045197	establishment or maintenance of epithelial cell apical/basal polarity	IBA	biological process
GO:0019902	phosphatase binding	IDA	molecular function
GO:0010923	negative regulation of phosphatase activity	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019900	kinase binding	IDA	molecular function
GO:0000165	MAPK cascade	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:2000310	regulation of NMDA receptor activity	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0099092	postsynaptic density, intracellular component	IEA	cellular component
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0098919	structural constituent of postsynaptic density	IEA	molecular function
GO:0035255	ionotropic glutamate receptor binding	IEA	molecular function
GO:0008022	protein C-terminus binding	IEA	molecular function
GO:0099072	regulation of postsynaptic membrane neurotransmitter receptor levels	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0031625	ubiquitin protein ligase binding	IEA	molecular function
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0005911	cell-cell junction	IEA	cellular component
GO:0061098	positive regulation of protein tyrosine kinase activity	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0043198	dendritic shaft	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0030426	growth cone	IEA	cellular component
GO:0030165	PDZ domain binding	IEA	molecular function
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0019903	protein phosphatase binding	IEA	molecular function
GO:0014069	postsynaptic density	IEA	cellular component
GO:0045197	establishment or maintenance of epithelial cell apical/basal polarity	IEA	biological process
GO:0032281	AMPA glutamate receptor complex	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0001736	establishment of planar polarity	IEA	biological process
GO:0099562	maintenance of postsynaptic density structure	IEA	biological process
GO:0005615	extracellular space	HDA	cellular component
GO:0008285	negative regulation of cell population proliferation	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa05165	Human papillomavirus infection
hsa04530	Tight junction
hsa04390	Hippo signaling pathway

Diseases

Associated diseases	References
X-linked mental retardation	KEGG:H00480
X-linked mental retardation	KEGG:H00480
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray