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SHANK3 SH3 and multiple ankyrin repeat domains 3 [ Homo sapiens (human) ]

Gene ID: 85358, updated on 4-Jun-2020

Summary

Official Symbol
SHANK3provided by HGNC
Official Full Name
SH3 and multiple ankyrin repeat domains 3provided by HGNC
Primary source
HGNC:HGNC:14294
See related
Ensembl:ENSG00000251322 MIM:606230
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PSAP2; SCZD15; PROSAP2; SPANK-2; DEL22q13.3
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]
Annotation information
Annotation category: partial on reference assembly
Expression
Broad expression in spleen (RPKM 33.0), fat (RPKM 32.0) and 15 other tissues See more
Orthologs

Genomic context

See SHANK3 in Genome Data Viewer
Location:
22q13.33
Exon count:
23
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (50672823..50733212)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (51113070..51171640)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene mitogen-activated protein kinase 8 interacting protein 2 Neighboring gene arylsulfatase A Neighboring gene RNA, U6 small nuclear 409, pseudogene Neighboring gene uncharacterized LOC105373100 Neighboring gene acrosin

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
22q13.3 deletion syndrome
MedGen: C1853490 OMIM: 606232 GeneReviews: Phelan-McDermid Syndrome
Compare labs
Schizophrenia 15
MedGen: C3151380 OMIM: 613950 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2018-08-14)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2018-08-14)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1650

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GKAP/Homer scaffold activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GKAP/Homer scaffold activity ISS
Inferred from Sequence or Structural Similarity
more info
 
SH3 domain binding ISS
Inferred from Sequence or Structural Similarity
more info
 
actin binding IEA
Inferred from Electronic Annotation
more info
 
ionotropic glutamate receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ionotropic glutamate receptor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein C-terminus binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein self-association ISS
Inferred from Sequence or Structural Similarity
more info
 
receptor signaling complex scaffold activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
scaffold protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
zinc ion binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
AMPA glutamate receptor clustering ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
MAPK cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
NMDA glutamate receptor clustering ISS
Inferred from Sequence or Structural Similarity
more info
 
adult behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
axon guidance TAS
Traceable Author Statement
more info
 
behavior IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
brain morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
brain morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
dendritic spine morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dendritic spine morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
guanylate kinase-associated protein clustering ISS
Inferred from Sequence or Structural Similarity
more info
 
learning IMP
Inferred from Mutant Phenotype
more info
PubMed 
learning ISS
Inferred from Sequence or Structural Similarity
more info
 
long-term synaptic potentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
memory ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of actin filament bundle assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cell volume ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of AMPA receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of dendritic spine development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of dendritic spine development ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of excitatory postsynaptic potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of excitatory postsynaptic potential ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of glutamate receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of long-term neuronal synaptic plasticity ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of long-term synaptic potentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of synapse structural plasticity ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of synaptic transmission, glutamatergic IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of synaptic transmission, glutamatergic ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
postsynaptic density assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
postsynaptic density assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of AMPA receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of dendritic spine morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
regulation of long-term synaptic depression ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
regulation of long-term synaptic potentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
social behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
social behavior ISS
Inferred from Sequence or Structural Similarity
more info
 
striatal medium spiny neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
synapse assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synapse assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
synaptic growth at neuromuscular junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vocal learning IMP
Inferred from Mutant Phenotype
more info
PubMed 
vocalization behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
vocalization behavior ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Component Evidence Code Pubs
ciliary membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol TAS
Traceable Author Statement
more info
 
dendrite IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dendritic spine IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extrinsic component of cytoplasmic side of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
colocalizes_with ionotropic glutamate receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuron projection ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron spine IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuron spine ISS
Inferred from Sequence or Structural Similarity
more info
 
postsynaptic density IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
postsynaptic density ISS
Inferred from Sequence or Structural Similarity
more info
 
colocalizes_with postsynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
SH3 and multiple ankyrin repeat domains protein 3
Names
proline rich synapse associated protein 2
shank postsynaptic density protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

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

    Status: VALIDATED

    Source sequence(s)
    AB569469, AC000036, AC000050
    Related
    ENSP00000489407.1, ENST00000445220.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    50672823..50733212
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_015148969.1 Reference GRCh38.p13 PATCHES

    Range
    8917..69328
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NG_008607.2: Suppressed sequence

    Description
    NG_008607.2: This RefSeq was removed because currently there is insufficient support for the genomic sequence in this region.
  2. NM_001080420.1: Suppressed sequence

    Description
    NM_001080420.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein. Exon 11 was based on ab initio prediction and is not supported by transcript data.
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