Human Gene DLG3 (ENST00000194900.8) from GENCODE V44
  Description: Contains 1 SH3 domain. (from UniProt Q5JUW8)
RefSeq Summary (NM_021120): 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 the C-terminal region of the adenomatosis polyposis coli tumor suppressor protein. Mutations in this gene have been associated with X-linked cognitive disability. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2009].
Gencode Transcript: ENST00000194900.8
Gencode Gene: ENSG00000082458.12
Transcript (Including UTRs)
   Position: hg38 chrX:70,444,861-70,505,490 Size: 60,630 Total Exon Count: 21 Strand: +
Coding Region
   Position: hg38 chrX:70,445,202-70,502,269 Size: 57,068 Coding Exon Count: 21 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
Other NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:70,444,861-70,505,490)mRNA (may differ from genome)Protein (849 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGencodeGeneCardsHGNC
LynxMalacardsMGIPubMedUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: Q5JUW8_HUMAN
DESCRIPTION: SubName: Full=Discs, large homolog 3 (Neuroendocrine-dlg, Drosophila); SubName: Full=Discs, large homolog 3 (Neuroendocrine-dlg, Drosophila), isoform CRA_b; SubName: Full=Disks large homolog 3;
SIMILARITY: Contains 1 SH3 domain.
SIMILARITY: Contains 3 PDZ (DHR) domains.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
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: DLG3
Diseases sorted by gene-association score: x-linked non-specific intellectual disability* (73), non-syndromic intellectual disability (24), syndromic intellectual disability (17), partington syndrome (12), skin tag (9), renpenning syndrome (8), scotoma (7), mental retardation, x-linked, syndromic 13 (6), chromosome 3q29 microdeletion syndrome (6), specific developmental disorder (2), schizophrenia (1), autism spectrum disorder (1), west syndrome (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 12.94 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 313.90 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 -194.50341-0.570 Picture PostScript Text
3' UTR -1095.203221-0.340 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
IPR001452 - SH3_domain

Pfam Domains:
PF00625 - Guanylate kinase
PF10608 - Polyubiquitination (PEST) N-terminal domain of MAGUK
PF00595 - PDZ domain (Also known as DHR or GLGF)
PF10600 - PDZ-associated domain of NMDA receptors
PF00018 - SH3 domain

ModBase Predicted Comparative 3D Structure on Q5JUW8
FrontTopSide
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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Descriptions from all associated GenBank mRNAs
  KJ891054 - Synthetic construct Homo sapiens clone ccsbBroadEn_00448 DLG3 gene, encodes complete protein.
AB209328 - Homo sapiens mRNA for synapse-associated protein 102 variant protein.
AK315041 - Homo sapiens cDNA, FLJ95987.
U49089 - Homo sapiens neuroendocrine-dlg (NE-dlg) mRNA, complete cds.
JD407370 - Sequence 388394 from Patent EP1572962.
BC093866 - Homo sapiens discs, large homolog 3 (Drosophila), mRNA (cDNA clone MGC:120901 IMAGE:7939711), complete cds.
BC093864 - Homo sapiens discs, large homolog 3 (Drosophila), mRNA (cDNA clone MGC:120899 IMAGE:7939709), complete cds.
AB384919 - Synthetic construct DNA, clone: pF1KB4237, Homo sapiens DLG3 gene for discs large homolog 3, complete cds, without stop codon, in Flexi system.
AB033058 - Homo sapiens KIAA1232 mRNA for KIAA1232 protein.
AK304020 - Homo sapiens cDNA FLJ50400 complete cds, highly similar to Discs large homolog 3.
AK316518 - Homo sapiens cDNA, FLJ79417 complete cds, highly similar to Discs large homolog 3.
AK303377 - Homo sapiens cDNA FLJ50431 complete cds, highly similar to Discs large homolog 3.
JD026701 - Sequence 7725 from Patent EP1572962.
JD030273 - Sequence 11297 from Patent EP1572962.
JD025617 - Sequence 6641 from Patent EP1572962.
JD110500 - Sequence 91524 from Patent EP1572962.
JD053640 - Sequence 34664 from Patent EP1572962.
JD309599 - Sequence 290623 from Patent EP1572962.
JD102838 - Sequence 83862 from Patent EP1572962.
JD495004 - Sequence 476028 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AB033058, ENST00000194900.1, ENST00000194900.2, ENST00000194900.3, ENST00000194900.4, ENST00000194900.5, ENST00000194900.6, ENST00000194900.7, hCG_15353, Q5JUW8, Q5JUW8_HUMAN, RP11-291O7.3-003, uc064zss.1
UCSC ID: ENST00000194900.8
RefSeq Accession: NM_021120
Protein: Q5JUW8 CCDS: CCDS14403.1

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