SHANK2 - SH3 and multiple ankyrin repeat domains 2 Gene

Also Known as SHANK; AUTS17; CORTBP1; CTTNBP1; ProSAP1; SPANK-3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 22941

About SHANK2

Cytogenetic location: 11q13.3-q13.4 Genomic coordinates (GRCh38): 11:70,467,854-71,253,228 (from NCBI)

This gene has 22 transcripts (splice variants), 134 orthologues, 2 paralogues and is associated with 3 phenotypes. Broad expression in brain (RPKM 4.2), kidney (RPKM 2.6) and 18 other tissues.

Summary

This gene encodes a protein that is a member of the Shank family of synaptic proteins that may function as molecular scaffolds in the postsynaptic density of excitatory synapses. Shank proteins contain multiple domains for protein-protein interaction, including ankyrin repeats, and an SH3 domain. This particular family member contains a PDZ domain, a consensus sequence for cortactin SH3 domain-binding peptides and a sterile alpha motif. The alternative splicing demonstrated in Shank genes has been suggested as a mechanism for regulating the molecular structure of Shank and the spectrum of Shank-interacting proteins in the postsynaptic densities of the adult and developing brain. Alterations in the encoded protein may be associated with susceptibility to autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

SHANK2 Products (3)

mRNA	Protein	Name
NM_001379226.1	NP_001366155.1	SH3 and multiple ankyrin repeat domains protein 2 isoform 3
NM_012309.5	NP_036441.2	SH3 and multiple ankyrin repeat domains protein 2 isoform 1
NM_133266.5	NP_573573.2	SH3 and multiple ankyrin repeat domains protein 2 isoform 2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	11583995	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in adult behavior	IMP IMP: Inferred from mutant phenotype	20473310	GOA
involved in learning	IMP IMP: Inferred from mutant phenotype	20473310	GOA
involved in negative regulation of hippo signaling	IMP IMP: Inferred from mutant phenotype	32661924	GOA
involved in positive regulation of cell population proliferation	IMP IMP: Inferred from mutant phenotype	32661924	GOA
involved in social behavior	IMP IMP: Inferred from mutant phenotype	20473310	GOA
involved in vocalization behavior	IMP IMP: Inferred from mutant phenotype	20473310	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

SHANK2 Protein Structure

SH3_2

PDZ

SAM_1

0
300
600
900
1200
1470 a.a.

Protein Preferred Names	Protein Names
SH3 and multiple ankyrin repeat domains protein 2	GKAP/SAPAP interacting protein

SHANK2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	SHANK2	Q9UPX8	PLCG1	Homo sapiens	P19174	Fluorescence	17474147
Intra	SHANK2	Q9UPX8	PLCG1	Homo sapiens	P19174	Peptide Array	17474147
Intra	SHANK2	Q9UPX8	PIK3R1	Homo sapiens	P27986	Peptide Array	17474147
Intra	SHANK2	Q9UPX8	CRK	Homo sapiens	P46108	Peptide Array	17474147

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Autism 17	Autism, Susceptibility To, 17 AUTS17 Autism Susceptibility 17 Autism, Susceptibility To, Type 17
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
Pervasive Developmental Disorder	Pervasive Development Disorder Pervasive Developmental Disorders Pervasive Child Development Disorders Autistic Behavior Autism Spectrum Disorders
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
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
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
Atypical Autism	Pdd
Childhood Disintegrative Disease	Childhood Disintegrative Disorder Disintegrative Psychosis Heller'S Syndrome Symbiotic Psychosis Dementia Infantilis Heller Syndrome Shared Paranoid Disorder
Chromosomal Deletion Syndrome
Deafness, Autosomal Recessive 63	DFNB63 Autosomal Recessive Nonsyndromic Deafness 63 Autosomal Recessive Deafness 63 Deafness, Autosomal Recessive, 63 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 63 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 63 Deafness, Autosomal Recessive, Type 63
Timothy Syndrome	Long Qt Syndrome With Syndactyly TS Lqt8 Long Qt Syndrome 8 Long Qt Syndrome Type 8 Long Qt Syndrome-Syndactyly Syndrome
Gene Duplication Disease	Gene Duplication Syndrome
Tic Disorder	Tics Behavioral Tic
Specific Developmental Disorder
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Wilson-Turner Syndrome WTS Mrxs6 X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome Mrxswt Wilson-Turner X-Linked Mental Retardation Syndrome Mental Retardation, X-Linked, Syndromic 6 Mental Retardation, X-Linked, With Gynecomastia And Obesity Intellectual Disability, X-Linked, Syndromic 6 Intellectual Disability, X-Linked, With Gynecomastia And Obesity Wilson Turner Intellectual Disability Syndrome X-Linked Intellectual Disability - Gynecomastia - Obesity
Gilles De La Tourette Syndrome	Tourette Syndrome Tourette Disorder GTS Ts Gilles De La Tourette'S Syndrome Motor-Verbal Tic Disorder Guinon'S Disease Psychogenic Tics Tourette'S Syndrome Chronic Motor And Vocal Tic Disorder Td Tourette'S Disease Combined Vocal And Multiple Motor Tic Disorder [De La Tourette] Combined Vocal And Multiple Motor Tic Disorder Tic De La Tourette
Chromosomal Disease	Chromosomal Disorders Congenital Chromosomal Disease
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Psychotic Disorder	Psychotic Disorders Mental Or Behavioural Disorder Psychotic Mental Disorders
Syndromic X-Linked Intellectual Disability	X-Linked Syndromic Intellectual Disability
Attention Deficit-Hyperactivity Disorder	Attention Deficit Hyperactivity Disorder ADHD Attention Deficit Disorder Attention Deficit-Hyperactivity Disorder, Susceptibility To Attention Deficit Disorder With Hyperactivity Hyperkinetic Disorder Hyperactivity Of Childhood Attention-Deficit/Hyperactivity Disorder Add Addh Attention Deficit Attention Deficit Disorder Of Childhood With Hyperactivity Attention Deficit Disorder With Hyperactivity Syndrome Hyperkinetic Syndrome Attention-Deficit Hyperactivity Disorder Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type Disturbance Of Activity And Attention Disorder Of Activity And Attention Adhd - [Attention Deficit Hyperactivity Disorder] Hyperkinetic Disorders Disorder Of Activity And Attention With Hyperkinesia Attention Deficit Syndrome With Hyperactivity
Syndromic Intellectual Disability
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

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 (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS12851	SHANK2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SHANK2	RGD	RGD:628772
Macaca mulatta	SHANK2	VGNC	VGNC:101396
Bos taurus	SHANK2	VGNC	VGNC:56279
Mus musculus	SHANK2	MGD	MGI:2671987
Felis catus	SHANK2	VGNC	VGNC:81940
Canis familiaris	SHANK2	VGNC	VGNC:52045
Others	SHANK2	NCBI