PrimePCR™ Probe Assay: SHANK3, Human

RT

Real-time PCR probe assay designed for gene expression analysis. Probe assays consist of unlabeled PCR primers and a dual labeled fluorescent probe.

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PrimePCR™ PreAmp for Probe Assay: SHANK3, Human
Reaction:     400 reactions
Gene-specific PCR primers for the unbiased preamplification of small quantities of cDNA for subsequent use in downstream gene expression analysis.

PrimePCR™ Template for Probe Assay: SHANK3, Human
Reaction:     200 x 20 µl reactions
Gene-specific synthetic DNA template designed to give a positive real-time PCR result when used with the corresponding probe assay.


Wet Lab Validated

Assay Information

Technology:   qPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   qHsaCIP0039750
Assay Design:   Intron-spanning
Chromosome Location:   22:51121814-51133204question
Amplicon Length:   70
Splice Variants Targeted:   ENST00000414786 ENST00000262795 ENST00000445220

Gene Information

This gene is a member of the Shank gene family. Shank proteins are multidomain scaffold proteins of the postsynaptic density that connect neurotransmitter receptors ion channels and other membrane proteins to the actin cytoskeleton and G-protein-coupled signaling pathways. Shank proteins also play a role in synapse formation and dendritic spine maturation. Mutations in this gene are a cause of autism spectrum disorder (ASD) which is characterized by impairments in social interaction and communication and restricted behavioral patterns and interests. Mutations in this gene also cause schizophrenia type 15 and are a major causative factor in the neurological symptoms of 22q13.3 deletion syndrome which is also known as Phelan-McDermid syndrome. Additional isoforms have been described for this gene but they have not yet been experimentally verified. [provided by RefSeq Mar 2012]

Gene Symbol:   SHANK3
Gene Name:   SH3 and multiple ankyrin repeat domains 3
Aliases:   DEL22q13.3, KIAA1650, PROSAP2, PSAP2, SPANK-2
RefSeq:   NC_000022.10 NG_008607.1 NT_011526.7
Ensembl:   ENSG00000251322
Entrez:   85358
Chromosome Mapping:   22q13.3

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