SHANK3 - SH3 and multiple ankyrin repeat domains 3 Gene

Homo sapiens

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

Gene ID: 85358 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	17474147	GOA

Biological Process GO Annotation	Evidence	Reference	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

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

Bioactive Molecules (3)

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

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