Human Gene DLG2 (uc010rta.1) Description and Page Index
  Description: Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.
RefSeq Summary (NM_001364): 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 receptors, ion channels, and associated signaling proteins. Multiple transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described, but their full-length nature is not known. [provided by RefSeq, Dec 2008].
Transcript (Including UTRs)
   Position: hg19 chr11:83,166,056-84,634,465 Size: 1,468,410 Total Exon Count: 23 Strand: -
Coding Region
   Position: hg19 chr11:83,170,861-84,634,162 Size: 1,463,302 Coding Exon Count: 23 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:83,166,056-84,634,465)mRNA (may differ from genome)Protein (852 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMGIOMIM
PubMedStanford SOURCETreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: B7Z2T4_HUMAN
DESCRIPTION: SubName: Full=Disks large homolog 2; SubName: Full=cDNA FLJ60066, highly similar to Discs large homolog 2;
SIMILARITY: Contains 1 SH3 domain.
SIMILARITY: Contains 3 PDZ (DHR) domains.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): DLG2
CDC HuGE Published Literature: DLG2
Positive Disease Associations: Body Height , Body Weight , Calcium-Binding Proteins , Chemokine CCL2 , Cholesterol, HDL , Cystatins , Echocardiography , Glucose , Heart Failure , Heart Rate , Hemoglobins , Hip , Lupus Erythematosus, Systemic , Myocardial Infarction , Parkinson Disease , Parkinson's disease , Phospholipids , protein quantitative trait loci , Stroke , Waist Circumference
Related Studies:
  1. Body Height
    Karol Estrada et al. Human molecular genetics 2009, A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation., Human molecular genetics. [PubMed 19570815]
  2. Body Weight
    , , . [PubMed 0]
  3. Calcium-Binding Proteins
    Emelia J Benjamin et al. BMC medical genetics 2007, Genome-wide association with select biomarker traits in the Framingham Heart Study., BMC medical genetics. [PubMed 17903293]
    The Framingham GWAS represents a resource to describe potentially novel genetic influences on systemic biomarker variability. The newly described associations will need to be replicated in other studies.
           more ... click here to view the complete list

-  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 -81.10303-0.268 Picture PostScript Text
3' UTR -1413.934805-0.294 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 (Also known as DHR or GLGF)
PF00625 - Guanylate kinase
PF07653 - Variant SH3 domain
PF10600 - PDZ-associated domain of NMDA receptors
PF10608 - Polyubiquitination (PEST) N-terminal domain of MAGUK

SCOP Domains:
50044 - SH3-domain
50156 - PDZ domain-like
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on B7Z2T4
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
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  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.
JD350303 - Sequence 331327 from Patent EP1572962.
AK094585 - Homo sapiens cDNA FLJ37266 fis, clone BRAMY2011280.
BC110844 - Homo sapiens discs, large homolog 2, chapsyn-110 (Drosophila), mRNA (cDNA clone IMAGE:4933124).
JD082714 - Sequence 63738 from Patent EP1572962.
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.
JD144923 - Sequence 125947 from Patent EP1572962.
JD270474 - Sequence 251498 from Patent EP1572962.
JD067594 - Sequence 48618 from Patent EP1572962.

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

-  Other Names for This Gene
  Alternate Gene Symbols: B7Z2T4, B7Z2T4_HUMAN, BC143964, NM_001364, NP_001355
UCSC ID: uc010rta.1
RefSeq Accession: NM_001364
Protein: B7Z2T4 CCDS: CCDS41696.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: BC143964.1
exon count: 23CDS single in 3' UTR: no RNA size: 2670
ORF size: 2559CDS single in intron: no Alignment % ID: 99.93
txCdsPredict score: 5076.50frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.