• Gene id: 1740

Gene Summary

• Gene Symbol: DLG2   Gene   UCSC   Ensembl
• Aliases: PPP1R58, PSD-93, PSD93, chapsyn-110
• Gene name: discs large MAGUK scaffold protein 2
• Alternate names: disks large homolog 2, DLG2 protein isoform, channel-associated protein of synapse-110, channel-associated protein of synapses, 110kDa, discs, large homolog 2, chapsyn-110, postsynaptic density protein PSD-93, protein phosphatase 1, regulatory subunit 58,
• Gene location: 11q14.1 (85628534: 83455008)     Exons: 47     NC_000011.10
• Gene summary(Entrez): This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. The encoded protein forms a heterodimer with a related family member that may interact at postsynaptic sites to form a multimeric scaffold for the clustering of recepto
• OMIM: 131242

Protein Summary

• Protein general information: Q15700  
  • Name: Disks large homolog 2 (Channel associated protein of synapse 110) (Chapsyn 110) (Postsynaptic density protein PSD 93)
  • Length: 870  
  • Mass: 97552
• Sequence:

  MFFACYCALRTNVKKYRYQDEDAPHDHSLPRLTHEVRGPELVHVSEKNLSQIENVHGYVLQSHISPLKASPAPII
  VNTDTLDTIPYVNGTEIEYEFEEITLERGNSGLGFSIAGGTDNPHIGDDPGIFITKIIPGGAAAEDGRLRVNDCI
  LRVNEVDVSEVSHSKAVEALKEAGSIVRLYVRRRRPILETVVEIKLFKGPKGLGFSIAGGVGNQHIPGDNSIYVT
  KIIDGGAAQKDGRLQVGDRLLMVNNYSLEEVTHEEAVAILKNTSEVVYLKVGKPTTIYMTDPYGPPDITHSYSPP
  MENHLLSGNNGTLEYKTSLPPISPGRYSPIPKHMLVDDDYTRPPEPVYSTVNKLCDKPASPRHYSPVECDKSFLL
  SAPYSHYHLGLLPDSEMTSHSQHSTATRQPSMTLQRAVSLEGEPRKVVLHKGSTGLGFNIVGGEDGEGIFVSFIL
  AGGPADLSGELQRGDQILSVNGIDLRGASHEQAAAALKGAGQTVTIIAQYQPEDYARFEAKIHDLREQMMNHSMS
  SGSGSLRTNQKRSLYVRAMFDYDKSKDSGLPSQGLSFKYGDILHVINASDDEWWQARRVMLEGDSEEMGVIPSKR
  RVERKERARLKTVKFNAKPGVIDSKGSFNDKRKKSFIFSRKFPFYKNKEQSEQETSDPERGQEDLILSYEPVTRQ
  EINYTRPVIILGPMKDRINDDLISEFPDKFGSCVPHTTRPKRDYEVDGRDYHFVISREQMEKDIQEHKFIEAGQY
  NDNLYGTSVQSVRFVAERGKHCILDVSGNAIKRLQVAQLYPIAIFIKPRSLEPLMEMNKRLTEEQAKKTYDRAIK
  LEQEFGEYFTAIVQGDTLEDIYNQCKLVIEEQSGPFIWIPSKEKL

• Structural information:
  • Protein Domains: (98..18-)
    (/note="PDZ-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (193..27-)
    (/note="PDZ-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (421..50-)
    (/note="PDZ-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (-)
  • Interpro: IPR016313  IPR019590  IPR035759  IPR008145  IPR008144   IPR020590  IPR027417  IPR001478  IPR019583  IPR036034  IPR036028  IPR001452  
  • Prosite: PS00856 PS50052 PS50106 PS50002
  • CDD: cd12032
  • PDB: 2BYG 2HE2
  • PDBsum: 2BYG 2HE2
  • STRING: ENSP00000365272
• Other Databases: GeneCards:  DLG2  Malacards:  DLG2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0099641	anterograde axonal protein transport	ISS	biological process
GO:0099642	retrograde axonal protein transport	ISS	biological process
GO:0035865	cellular response to potassium ion	ISS	biological process
GO:0014069	postsynaptic density	ISS	cellular component
GO:0098839	postsynaptic density membrane	IBA	cellular component
GO:0098609	cell-cell adhesion	IBA	biological process
GO:0097120	receptor localization to synapse	IBA	biological process
GO:0043005	neuron projection	IBA	cellular component
GO:0030054	cell junction	IBA	cellular component
GO:0016323	basolateral plasma membrane	IBA	cellular component
GO:0008328	ionotropic glutamate receptor complex	IBA	colocalizes with
GO:0007268	chemical synaptic transmission	IBA	biological process
GO:0045197	establishment or maintenance of epithelial cell apical/basal polarity	IBA	biological process
GO:0043113	receptor clustering	IBA	biological process
GO:0031594	neuromuscular junction	IBA	cellular component
GO:0010923	negative regulation of phosphatase activity	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	ISS	cellular component
GO:0008076	voltage-gated potassium channel complex	ISS	colocalizes with
GO:0044224	juxtaparanode region of axon	ISS	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0004385	guanylate kinase activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
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: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: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:0045211	postsynaptic membrane	IEA	cellular component
GO:0044224	juxtaparanode region of axon	IEA	cellular component
GO:0035865	cellular response to potassium ion	IEA	biological process
GO:0019233	sensory perception of pain	IEA	biological process
GO:0014069	postsynaptic density	IEA	cellular component
GO:0099645	neurotransmitter receptor localization to postsynaptic specialization membrane	IEA	biological process
GO:0099642	retrograde axonal protein transport	IEA	biological process
GO:0099641	anterograde axonal protein transport	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0098919	structural constituent of postsynaptic density	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0007268	chemical synaptic transmission	IEA	biological process
GO:0030424	axon	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0043204	perikaryon	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:1904115	axon cytoplasm	IEA	cellular component
GO:1904115	axon cytoplasm	IEA	cellular component
GO:0099562	maintenance of postsynaptic density structure	IEA	biological process
GO:0046710	GDP metabolic process	IEA	biological process
GO:0046037	GMP metabolic process	IEA	biological process

KEGG pathways

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

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq