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

Gene ID: 85358, updated on 5-Jan-2022

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
REVIEWED
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: suggests misassembly
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
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Genomic context

See SHANK3 in Genome Data Viewer
Location:
22q13.33
Exon count:
23
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (50672823..50733212)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (51111251..51171640)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 5053 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

EBI 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.
EBI GWAS 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
enables SH3 domain binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables actin binding IEA
Inferred from Electronic Annotation
more info
 
enables ionotropic glutamate receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables ionotropic glutamate receptor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein C-terminus binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein self-association ISS
Inferred from Sequence or Structural Similarity
more info
 
enables scaffold protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables synaptic receptor adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables synaptic receptor adaptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables zinc ion binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in AMPA glutamate receptor clustering ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in MAPK cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in NMDA glutamate receptor clustering ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in adult behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in brain morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in dendritic spine morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in guanylate kinase-associated protein clustering ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in learning IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in learning ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in memory ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of actin filament bundle assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of cell volume ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of AMPA receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of dendritic spine development ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in positive regulation of excitatory postsynaptic potential ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in positive regulation of glutamate receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in positive regulation of long-term neuronal synaptic plasticity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of long-term synaptic potentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of synapse structural plasticity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of synaptic transmission, glutamatergic ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in postsynaptic density assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of dendritic spine morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in regulation of long-term synaptic depression ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in regulation of long-term synaptic potentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in social behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in social behavior ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in striatal medium spiny neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in synapse assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in vocal learning IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in vocalization behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in vocalization behavior ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Component Evidence Code Pubs
located_in ciliary membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
is_active_in dendritic spine IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in extrinsic component of cytoplasmic side of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in neuron projection ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in neuron spine ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in postsynaptic density IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in 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
shank3 postsynaptic density protein

NCBI Reference Sequences (RefSeq)

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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.

Genomic

  1. NG_070230.1 RefSeqGene

    Range
    5001..68996
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    AB569469, AC000036, AC000050
    Related
    ENSP00000489147.2, ENST00000262795.6
    Conserved Domains (8) summary
    cd09506
    Location:17391804
    SAM_Shank1,2,3; SAM domain of Shank1,2,3 family proteins
    cd11984
    Location:549600
    SH3_Shank3; Src homology 3 domain of SH3 and multiple ankyrin repeat domains protein 3
    COG0666
    Location:200392
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    PRK12323
    Location:12081412
    PRK12323; DNA polymerase III subunit gamma/tau
    cd00992
    Location:648737
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    sd00045
    Location:257288
    ANK; ANK repeat [structural motif]
    cd17177
    Location:83169
    FERM_F0_SHANK3; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F0 sub-domain, found in SH3 and multiple ankyrin repeat domains protein 3 (SHANK3)
    pfam12796
    Location:329410
    Ank_2; Ankyrin repeats (3 copies)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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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