SHANK2 - SH3 and multiple ankyrin repeat domains 2 Gene

Homo sapiens

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

Gene ID: 22941 | Gene type: protein coding

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

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12851	SHANK2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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