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SHANK3 - SH3 and multiple ankyrin repeat domains 3 Gene

Also Known as PSAP2; SCZD15; PROSAP2; SPANK-2; DEL22q13.3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 85358

About SHANK3

Cytogenetic location: 22q13.33 Genomic coordinates (GRCh38): 22:50,672,823-50,733,212 (from NCBI)

This gene has 12 transcripts (splice variants), 279 orthologues, 2 paralogues and is associated with 5 phenotypes. Broad expression in spleen (RPKM 33.0), fat (RPKM 32.0) and 15 other tissues.

Summary

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]

SHANK3 Products (1)

mRNA	Protein	Name
NM_001372044.2	NP_001358973.1	SH3 and multiple ankyrin repeat domains protein 3

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	17474147	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in adult behavior	IMP IMP: Inferred from mutant phenotype	17173049	GOA
involved in learning	IMP IMP: Inferred from mutant phenotype	17173049	GOA
involved in social behavior	IMP IMP: Inferred from mutant phenotype	17173049	GOA
involved in vocal learning	IMP IMP: Inferred from mutant phenotype	17173049	GOA
involved in vocalization behavior	IMP IMP: Inferred from mutant phenotype	17173049	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SHANK3 Protein Structure

Ank_2

SH3_2

PDZ

SAM_1

0
300
600
900
1200
1500
1747 a.a.

Protein Preferred Names	Protein Names
SH3 and multiple ankyrin repeat domains protein 3	proline rich synapse associated protein 2

SHANK3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SHANK3	Q9BYB0	DPYSL2	Homo sapiens	Q16555	Anti Bait CoIP	36950384
Intra	SHANK3	Q9BYB0	EIF3G	Homo sapiens	O75821	Anti Bait CoIP	36950384
Intra	SHANK3	Q9BYB0	NCK1	Homo sapiens	P16333	Peptide Array	17474147
Intra	SHANK3	Q9BYB0	GRB2	Homo sapiens	P62993	Peptide Array	17474147
Intra	SHANK3	Q9BYB0	GRB2	Homo sapiens	P62993	Y2H	21988832
Intra	SHANK3	Q9BYB0	CHCHD3	Homo sapiens	Q9NX63	Anti Bait CoIP	36950384
Intra	SHANK3	Q9BYB0	PLCG1	Homo sapiens	P19174	Fluorescence	17474147
Intra	SHANK3	Q9BYB0	MAP1A	Homo sapiens	P78559	Anti Bait CoIP	36950384

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Schizophrenia 15	SCZD15 Schizophrenia 15 With Or Without An Affective Disorder Schizophrenia Susceptibility Locus, Chromosome 22q13-Related Schizophrenia Susceptibility Locus Chromosome 22q13-Related Schizophrenia, Type 15
Phelan-Mcdermid Syndrome	Chromosome 22q13.3 Deletion Syndrome 22q13.3 Deletion Syndrome Telomeric 22q13 Monosomy Syndrome PHMDS Deletion 22q13 Syndrome 22q13.3 Deletion Deletion 22q13.3 Syndrome Monosomy 22q13 Monosomy 22q13.3 22q13 Deletion Syndrome Monosomy 22q13 Syndrome 22q13 Deletion Chromosome Deletion
Psychotic Disorder	Psychotic Disorders Mental Or Behavioural Disorder Psychotic Mental Disorders
Mutism
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Rett Syndrome	Atypical Rett Syndrome RTT Rett Disorder Rts Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use Rett Syndrome, Preserved Speech Variant Rett Syndrome, Atypical Rett'S Disorder Rett Syndrome Variant Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome Cerebroatrophic Hyperammonemia Rett Like Syndrome Rett'S Syndrome Atypical Rtt Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Rett Syndrome Preserved Speech Variant Rett Syndrome Zappella Variant Rett Syndrome, Zappella Variant
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Bipolar Disorder	Bipolar Depression Manic Disorder Depression, Bipolar Bipolar Disorder Manic Phase Depressive-Manic Psych. Manic Bipolar Affective Disorder Manic Bipolar I Disorder Manic Depression Manic Depressive Disorder Mixed Bipolar Disorder Bipolar Affective Disorder Bipolar Affective Psychosis Bipolar Spectrum Disorder Manic Depressive Illness Depression Bipolar Bipolar Disorder, Mixed Major Affective Disorder Major Affective Disorder 1 Major Affective Disorder 2
Schizoaffective Disorder	Schizo-Affective Psychosis Schizo-Affective Type Schizophrenia Schizoaffective Psychosis Schizoaffective Schizophrenia Schizophrenia, Schizo-Affective Type Schizophreniform Psychosis, Affective Type
Asperger Syndrome	Asperger Disorder Asperger Syndrome, Susceptibility To
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12852	SHANK3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-163345	5-HT7R antagonist 2	Antagonist	/	Unkown
HY-P10106	TAT-PAK18 inhibitory peptide	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SHANK3	RGD	RGD:69264
Bos taurus	SHANK3	VGNC	VGNC:34586
Mus musculus	SHANK3	MGD	MGI:1930016
Macaca mulatta	SHANK3	VGNC	VGNC:98444
Others	SHANK3	NCBI