Human Gene DLG2 (ENST00000376104.7_11) from GENCODE V47lift37
  Description: discs large MAGUK scaffold protein 2, transcript variant 1 (from RefSeq NM_001142699.3)
Gencode Transcript: ENST00000376104.7_11
Gencode Gene: ENSG00000150672.19_22
Transcript (Including UTRs)
   Position: hg19 chr11:83,166,216-85,338,388 Size: 2,172,173 Total Exon Count: 28 Strand: -
Coding Region
   Position: hg19 chr11:83,170,861-85,309,740 Size: 2,138,880 Coding Exon Count: 26 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:83,166,216-85,338,388)mRNA (may differ from genome)Protein (975 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DLG2_HUMAN
DESCRIPTION: RecName: Full=Disks large homolog 2; AltName: Full=Channel-associated protein of synapse-110; Short=Chapsyn-110; AltName: Full=Postsynaptic density protein PSD-93;
FUNCTION: Required for perception of chronic pain through NMDA receptor signaling. Regulates surface expression of NMDA receptors in dorsal horn neurons of the spinal cord. Interacts with the cytoplasmic tail of NMDA receptor subunits as well as inward rectifying potassium channels. Involved in regulation of synaptic stability at cholinergic synapses. Part of the postsynaptic protein scaffold of excitatory synapses (By similarity).
SUBUNIT: Interacts through its PDZ domains with NETO1. Interacts with NOS1/nNOS through second PDZ domain (By similarity). Interacts with KCNJ2/Kir2.1 (via C-terminus) through one of its PDZ domains. Interacts with FRMPD4 (via C-terminus). Interacts with LRFN1, LRFN2 and LRFN4. Interacts with FASLG.
INTERACTION: P35561:Kcnj2 (xeno); NbExp=6; IntAct=EBI-663057, EBI-703793;
SUBCELLULAR LOCATION: Membrane; Lipid-anchor (By similarity). Cell junction, synapse, postsynaptic cell membrane, postsynaptic density (By similarity). Cell junction, synapse (By similarity). Note=Concentrated in soma and postsynaptic density of a subset of neurons (By similarity).
DOMAIN: An N-terminally truncated L27 domain is predicted in isoform 2 at positions 1 through 27.
PTM: Palmitoylation of isoform 1 is not required for targeting to postsynaptic density (By similarity).
SIMILARITY: Belongs to the MAGUK family.
SIMILARITY: Contains 1 guanylate kinase-like domain.
SIMILARITY: Contains 3 PDZ (DHR) domains.
SIMILARITY: Contains 1 SH3 domain.
SEQUENCE CAUTION: Sequence=BAD92489.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DLG2
Diseases sorted by gene-association score: chronic pain (9), renal oncocytoma (7), bilateral retinoblastoma (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester
  • C532162 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine
  • D015127 9,10-Dimethyl-1,2-benzanthracene
  • D001564 Benzo(a)pyrene
  • D004390 Chlorpyrifos
  • D013619 Tacrine
  • D013749 Tetrachlorodibenzodioxin
  • D014635 Valproic Acid
  • C006780 bisphenol A
  • C056507 gemcitabine
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 16.20 RPKM in Brain - Anterior cingulate cortex (BA24)
Total median expression: 167.74 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -94.10386-0.244 Picture PostScript Text
3' UTR -1299.404645-0.280 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008144 - Guanylate_kin
IPR008145 - Guanylate_kin/L-typ_Ca_channel
IPR020590 - Guanylate_kinase_CS
IPR016313 - M-assoc_guanylate_kinase
IPR019590 - MAGUK_PEST_N
IPR001478 - PDZ
IPR019583 - PDZ_assoc
IPR011511 - SH3_2
IPR001452 - SH3_domain

Pfam Domains:
PF00018 - SH3 domain
PF00595 - PDZ domain
PF00625 - Guanylate kinase
PF07653 - Variant SH3 domain
PF09058 - L27_1
PF10600 - PDZ-associated domain of NMDA receptors
PF10608 - Polyubiquitination (PEST) N-terminal domain of MAGUK
PF17820 - PDZ domain

SCOP Domains:
101288 - L27 domain
47113 - Histone-fold
50044 - SH3-domain
50156 - PDZ domain-like
52540 - P-loop containing nucleoside triphosphate hydrolases

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2BYG - X-ray MuPIT 2HE2 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q15700
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004385 guanylate kinase activity
GO:0005515 protein binding
GO:0019900 kinase binding
GO:0035255 ionotropic glutamate receptor binding

Biological Process:
GO:0007268 chemical synaptic transmission
GO:0007399 nervous system development
GO:0010923 negative regulation of phosphatase activity
GO:0019233 sensory perception of pain
GO:0035865 cellular response to potassium ion
GO:0043113 receptor clustering
GO:0046037 GMP metabolic process
GO:0046710 GDP metabolic process
GO:0097120 receptor localization to synapse
GO:0099641 anterograde axonal protein transport
GO:0099642 retrograde axonal protein transport
GO:0045197 establishment or maintenance of epithelial cell apical/basal polarity

Cellular Component:
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0014069 postsynaptic density
GO:0016020 membrane
GO:0030054 cell junction
GO:0030424 axon
GO:0042995 cell projection
GO:0044224 juxtaparanode region of axon
GO:0045202 synapse
GO:0045211 postsynaptic membrane
GO:1904115 axon cytoplasm
GO:0008076 voltage-gated potassium channel complex
GO:0008328 ionotropic glutamate receptor complex
GO:0016323 basolateral plasma membrane


-  Descriptions from all associated GenBank mRNAs
  CR749820 - Homo sapiens mRNA; cDNA DKFZp781D1854 (from clone DKFZp781D1854).
AK126776 - Homo sapiens cDNA FLJ44824 fis, clone BRACE3046491, highly similar to Channel associated protein of synapse-110.
AK294375 - Homo sapiens cDNA FLJ53314 complete cds, highly similar to Discs large homolog 2.
AK299797 - Homo sapiens cDNA FLJ60861 complete cds, highly similar to Discs large homolog 2.
U32376 - Human channel associated protein of synapse (chapsyn-110) mRNA, complete cds.
AK295094 - Homo sapiens cDNA FLJ60066 complete cds, highly similar to Discs large homolog 2.
BC143964 - Homo sapiens cDNA clone IMAGE:9052482, containing frame-shift errors.
BC156216 - Synthetic construct Homo sapiens clone IMAGE:100061589, MGC:190042 discs, large homolog 2 (Drosophila) (DLG2) mRNA, encodes complete protein.
BC172464 - Synthetic construct Homo sapiens clone IMAGE:100069158, MGC:199169 discs, large homolog 2 (Drosophila) (DLG2) mRNA, encodes complete protein.
KJ535093 - Homo sapiens clone DLG2_iso-A_fetal-F14 discs large 2 isoform A (DLG2) mRNA, complete cds, alternatively spliced.
AK295624 - Homo sapiens cDNA FLJ53337 complete cds, highly similar to Discs large homolog 2.
AB209252 - Homo sapiens mRNA for chapsyn-110 variant protein.
AK127150 - Homo sapiens cDNA FLJ45207 fis, clone BRCAN2010665, highly similar to Channel associated protein of synapse-110.
CR933674 - Homo sapiens mRNA; cDNA DKFZp781E0954 (from clone DKFZp781E0954).
AK299778 - Homo sapiens cDNA FLJ54724 complete cds, highly similar to Discs large homolog 2.
AK094585 - Homo sapiens cDNA FLJ37266 fis, clone BRAMY2011280.
BC110844 - Homo sapiens discs, large homolog 2, chapsyn-110 (Drosophila), mRNA (cDNA clone IMAGE:4933124).
BX648386 - Homo sapiens mRNA; cDNA DKFZp686H06205 (from clone DKFZp686H06205).
AK125152 - Homo sapiens cDNA FLJ43162 fis, clone FCBBF2007510.
AK125151 - Homo sapiens cDNA FLJ43161 fis, clone FCBBF2001183.
BX537627 - Homo sapiens mRNA; cDNA DKFZp686E04200 (from clone DKFZp686E04200).
JD563076 - Sequence 544100 from Patent EP1572962.
JD130811 - Sequence 111835 from Patent EP1572962.
JD325259 - Sequence 306283 from Patent EP1572962.
JD240928 - Sequence 221952 from Patent EP1572962.
JD449915 - Sequence 430939 from Patent EP1572962.
JD521860 - Sequence 502884 from Patent EP1572962.
JD422202 - Sequence 403226 from Patent EP1572962.
JD380848 - Sequence 361872 from Patent EP1572962.
JD299831 - Sequence 280855 from Patent EP1572962.
JD566508 - Sequence 547532 from Patent EP1572962.
JD555539 - Sequence 536563 from Patent EP1572962.
JD507888 - Sequence 488912 from Patent EP1572962.
JD458970 - Sequence 439994 from Patent EP1572962.
JD399692 - Sequence 380716 from Patent EP1572962.
JD188129 - Sequence 169153 from Patent EP1572962.
JD383559 - Sequence 364583 from Patent EP1572962.
JD470705 - Sequence 451729 from Patent EP1572962.
JD338594 - Sequence 319618 from Patent EP1572962.
JD539934 - Sequence 520958 from Patent EP1572962.
JD525850 - Sequence 506874 from Patent EP1572962.
JD290154 - Sequence 271178 from Patent EP1572962.
JD528544 - Sequence 509568 from Patent EP1572962.
JD566119 - Sequence 547143 from Patent EP1572962.
JD433604 - Sequence 414628 from Patent EP1572962.
JD263204 - Sequence 244228 from Patent EP1572962.
BC104969 - Homo sapiens discs, large homolog 2, chapsyn-110 (Drosophila), mRNA (cDNA clone IMAGE:8143972).
JD322384 - Sequence 303408 from Patent EP1572962.
JD137576 - Sequence 118600 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_PDZsPathway - Synaptic Proteins at the Synaptic Junction

Reactome (by CSHL, EBI, and GO)

Protein Q15700 (Reactome details) participates in the following event(s):

R-HSA-6794336 NMDAR binds PSD-95 subfamily members
R-HSA-6794345 NLGNs binds PSD-95 subfamily members
R-HSA-6794349 NMDA receptor complex:DLG2,DLG3,DLG4 binds SPAR
R-HSA-6794356 BEGAIN binds DLG2,DLG3,DLG4
R-HSA-6794338 GKAPs bind PSD-95 members
R-HSA-6794354 NMDA receptor complex:DLG2,DLG3,DLG4:SPAR binds PDLIM5
R-HSA-6794357 SHANK proteins bind GKAPs
R-HSA-6794344 HOMER binds SHANK proteins
R-HSA-6797554 ABP1 binds SHANK proteins
R-HSA-6794361 Neurexins and neuroligins
R-HSA-6794362 Protein-protein interactions at synapses
R-HSA-112316 Neuronal System

-  Other Names for This Gene
  Alternate Gene Symbols: B7WNY8, DLG2_HUMAN, ENST00000376104.1, ENST00000376104.2, ENST00000376104.3, ENST00000376104.4, ENST00000376104.5, ENST00000376104.6, F8W9V6, NM_001142699, Q15700, Q59G57, Q5H9Q4, Q68CQ8, Q6ZTA8, uc318msu.1, uc318msu.2
UCSC ID: ENST00000376104.7_11
RefSeq Accession: NM_001142699.3
Protein: Q15700 (aka DLG2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.