Description: Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 1, mRNA. RefSeq Summary (NM_001142699): 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 chr11:83,166,056-85,338,314 Size: 2,172,259 Total Exon Count: 28 Strand: - Coding Region Position: hg19 chr11:83,170,861-85,309,740 Size: 2,138,880 Coding Exon Count: 26
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]
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.
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
Pfam Domains: PF00018 - SH3 domain PF00595 - PDZ domain (Also known as DHR or GLGF) 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
ModBase Predicted Comparative 3D Structure on Q15700-2
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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.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
