Shank3 Antibodies

SH3 and multiple ankyrin repeat domains protein 3 (Shank3)

Major scaffold postsynaptic density protein which interacts with multiple proteins and complexes to orchestrate the dendritic spine and synapse formation, maturation and maintenance. Interconnects receptors of the postsynaptic membrane including NMDA-type and metabotropic glutamate receptors through complexes with GKAP/PSD-95 and HOMER, respectively, and the actin-based cytoskeleton.

Plays a role in the structural and functional organization of the dendritic spine and synaptic junction throughout the interaction with Arp2/3 and WAVE1 complex as well as the marketing of the F-actin clusters. Through this control of actin dynamics, participates in the regulation of developing neurons growth cone motility and the NMDA receptor-signaling.

Gene Information

Mouse
Gene Name:	Shank3
Uniprot:	Q4ACU6
Entrez:	58234

Family

Belongs to:
SHANK family

Alternative Names

DEL22q13.3; KIAA1650proline rich synapse associated protein 2; Proline-rich synapse-associated protein 2; prosap2; PSAP2SH3 and multiple ankyrin repeat domains protein 3; SH3 and multiple ankyrin repeat domains 3; shank postsynaptic density protein; Shank3; SPANK-2

Molecular Weight

Mass (kDA):
185.397 kDA

Genomic Context

Mouse
Location:	15|15 E3
Sequence:	15;

Tissue Specificity

In brain, highly expressed in striatum, thalamus, hippocampus and granule cells of the cerebellum.

Diseases

• Autistic Disorder
• Autism Spectrum Disorders
• 22q13.3 Deletion Syndrome
• Cytogenetic Abnormality
• Muscle Hypotonia
• Haploinsufficiency
• Developmental Delay (disorder)
• Developmental Disabilities
• Speech Delay
• Schizophrenia
• Tissue Adhesions
• Child Development Disorders, Pervasive

• Monosomy
• Alzheimer's Disease
• Impairment (finding)
• Language Development Disorders
• Neonatal Hypotonia
• Asperger Syndrome

Pathways

• Synaptic Transmission
• Pathogenesis
• Cell Adhesion
• Localization
• Brain Development
• Methylation
• Dna Methylation
• Immune Response
• Translation
• Rna Interference
• Transport
• Synapse Maturation
• Synapse Organization

• Cell Migration
• Histone Modification
• Developmental Maturation
• Nuclear Export
• Spermatogenesis
• Cell Division
• Menstruation

PTMs

• Phosphorylation

• Methylation

• Cleavage

For details, visit:
bosterbio.com/bosterbio-gene-info-cards/Shank3

Best Uses Of The SHANK3 Marker

Antibodies against Shank3 can be used to monitor its expression in a variety biological tests. Boster Bio produces monoclonal as and polyclonal antibodies to Shank3 using a variety of animal specimens. Shank3 is found in the brain and neocortex using the GluR1 protein. Waga C. identified the Shank3 transcriptional transcripts in the neocortex in the mouse's development.

Biological significance

The SHANK3 gene encodes a protein that regulates the nitric-oxygen synthase. Molecular biology studies have indicated that a change in the SHANK3 gene could affect the function of the protein, however the precise mechanism is not clear. But, the presence a mutation in a gene that is of the same sequence may be helpful in discovering an underlying mutation. There is a great chance that the mutation in SHANK3 will affect the function of the protein.

The SHANK3 gene was sequenced using the 3730xl DNA Analyzer System (Applied Biosystems). Primers were created for the SHANK3 gene by using the ExonPrimer program. The SHANK3 gene has 32 exons, as well as nine fragments of cDNA. The cDNA fragments were analysed using Mutation Surveyor, Soft Genetics, and PolyPhred. These sequences were re-amplified with forward and reverse primers.

A strong link between autism spectrum disorder, Phelan-McDermid Syndrome and mutations in SHANK3 genes are deletions and mutations. The SHANK3 gene encodes a protein scaffolding which is found in the post-synaptic neurons of excitatory neurons. Single-molecule fluorescence-in-situ hybridization is able to detect mutations in this gene.

Mutations in the SHANK3 gene could contribute to an increased susceptibility to autism spectrum disorders. The exact mechanism that causes this increased susceptibility remains unknown. The brain has been demonstrated to be affected by the SHANK3 gene. There are many theories and studies that explain the mechanisms of autism. It is worth noting that there are five varieties of SHANK3 mutant mice.

Studies on molecular biology have revealed that SHANK3 is present in both postsynaptic sites and presynaptic areas during the early axonal pathfinding. Additionally, it is expressed in glial cells, so that it is an eminent marker for disease. It is possible to identify impairments in reproductive fitness by through the SHANK3 marker. This research can be used as a biomarker for monitoring a larger population.

Additionally, these findings support the notion that a functional and structural change in SHANK3 may be responsible for the development of autism. A loss of SHANK3 may also cause disruption in communication between excitatory ACC neuron cells. This leads in reduced excitatory activity in the ACC during social interactions. Researchers also found that the shank3 gene restored could be used to rescue social behavior in mutant mice.

Bioassays

cDNA derived from rats is used in biological tests that employ the SHANK3 gene mark. The results of these tests are reported as normalized expression as compared to the control samples. The data are then used to calculate the knockdown efficacy of shSHANK3 as compared to its wild-type counterpart. To better understand the impact of shSHANK3 knockdown, evaluated the RNA levels in the RAPD and sham-operated mice to the levels of the control group.

A variety of molecular techniques were used to genotype SHANK3 and sequence cDNA from RAPD CCR4. For the patient suffering from RAPD, full-length rat Shank3 sequenced on an Applied Biosystems 3730xl DNA Analyzer System. Primers were designed using ExonPrimer. The RAPD-CCR4 mutants were generated through site-directed mutation.

The RAPDCCR4 gene is rich for the SHANK3 protein in synapses that stimulate the brain and a subset of patients suffering from autism spectrum disorder. This gene marker can be used to help determine the presence of human neuropathology. The first mutations to be identified in the SHANK3 gene were discovered in Drosophila melanogaster. Genetic analyses have revealed that Shank3 mutant mice have abnormal communication and social behavior as well as learning and memory deficits.

Human and mouse SHANK3 loci are closely related. The SHANK3 gene in mouse displays specific methylation of tissues. It is vital in controlling the expression of gene bodies. However human SHANK3 mRNA is not readily accessible. Furthermore in spite of the fact that mice with SHANK3 mutations show a variety of behavioral problems, there is no evidence of autism in them.

Molecular studies have shown that SHANK3 can be detected in both postsynaptic as well as presynaptic places during the beginning stages of the discovery of axonal pathways. Tests using the SHANK3 marker show a functional role for this gene in myelination and the formation white matter. In larger patient groups, DTI mapping can be a useful biological marker for this gene.

Studies on the molecular basis of SHANK3 have also discovered that it plays a role in the development and maturation of neuronal soma in embryonic rats. It also affects the development of synapses and neuronal soma in D9 and D21. These findings suggest that this gene plays a crucial function in neuronal development as well as function. Biological tests that make use of the SHANK3 gene could be helpful in identifying neuronal manifestations of autism.

RNA-based and cloning (SHANK3) is a reliable and reproducible method to assess the impact of knockdowns in human brains. In these studies, two-way ANOVA is used to evaluate the statistical significance. Data are presented as mean + SEM. The RNA-based clones were transduced using shSHANK3 using iPSC cells.

SHANK3 is a SHANK3 receptor that interacts with a variety of receptors in the synapse. For example, NMDA receptors depend on glutamate to signal. They are also important pharmaceutical targets in the case of fragile X syndrome and autism. The HOMER domain of SHANK3 plays a crucial role in interactions between synaptic proteins like PSD95. Learning is also characterized by long-term potentiation.

Immunoassays

Biological assays use antibodies that recognize SHANK3 the protein, which is expressed in a variety of animal samples. Boster Bio uses mainly rabbit and mouse cells to create its Shank3 antibodies. Shank3 interacts directly with the GluR1 receiver. Waga C. claims that Shank3 transcripts are made during the development and maintenance of the mouse's neurocortex.