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

    Gene ID: 85358, updated on 16-Dec-2017
    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: partial on reference assembly
    Expression
    Broad expression in spleen (RPKM 33.0), fat (RPKM 32.0) and 15 other tissues See more
    Orthologs
    Location:
    22q13.33
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 22 NC_000022.11 (50674642..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

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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 (2017-12-05)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2017-12-05)

    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
    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Glutamatergic synapse, organism-specific biosystem (from KEGG)
      Glutamatergic synapse, organism-specific biosystemGlutamate is the major excitatory neurotransmitter in the mammalian central nervous system(CNS). Glutamate is packaged into synaptic vesicles in the presynaptic terminal. Once released into the synap...
    • Glutamatergic synapse, conserved biosystem (from KEGG)
      Glutamatergic synapse, conserved biosystemGlutamate is the major excitatory neurotransmitter in the mammalian central nervous system(CNS). Glutamate is packaged into synaptic vesicles in the presynaptic terminal. Once released into the synap...
    • Interactions of neurexins and neuroligins at synapses, organism-specific biosystem (from REACTOME)
      Interactions of neurexins and neuroligins at synapses, organism-specific biosystemNeurexins (NRXNs) and neuroligins (NLGNs) are best characterized synaptic cell-adhesion molecules. They are part of excitatory glutamatergic and inhibitory GABAergic synapses in mammalian brain, medi...
    • Neuronal System, organism-specific biosystem (from REACTOME)
      Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
    • Protein-protein interactions at synapses, organism-specific biosystem (from REACTOME)
      Protein-protein interactions at synapses, organism-specific biosystemSynapses constitute highly specialized sites of asymmetric cell-cell adhesion and intercellular communication. Its formation involves the recruitment of presynaptic and postsynaptic molecules at newl...
    • RET signaling, organism-specific biosystem (from REACTOME)
      RET signaling, organism-specific biosystemThe RET proto-oncogene encodes a receptor tyrosine kinase expressed primarily in urogenital precursor cells, spermatogonocytes, dopaminergic neurons, motor neurons and neural crest progenitors and de...
    • Signaling events regulated by Ret tyrosine kinase, organism-specific biosystem (from Pathway Interaction Database)
      Signaling events regulated by Ret tyrosine kinase, organism-specific biosystem
      Signaling events regulated by Ret tyrosine kinase
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA1650

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 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
     
    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
     
    brain morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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
     
    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 ISS
    Inferred from Sequence or Structural Similarity
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    postsynaptic density assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    ciliary membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    dendritic spine IEA
    Inferred from Electronic Annotation
    more info
     
    neuron projection ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neuron spine ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    postsynaptic density ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    SH3 and multiple ankyrin repeat domains protein 3
    Names
    proline rich synapse associated protein 2
    shank postsynaptic density protein

    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_008607.2 RefSeqGene

      Range
      5001..63858
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_033517.1NP_277052.1  SH3 and multiple ankyrin repeat domains protein 3

      See identical proteins and their annotated locations for NP_277052.1

      Status: REVIEWED

      Source sequence(s)
      AB051437, AB569469, BC018856
      UniProtKB/Swiss-Prot
      Q9BYB0
      Related
      ENSP00000489147.1, ENST00000262795.5
      Conserved Domains (9) summary
      cd09506
      Location:16641729
      SAM_Shank1,2,3; SAM domain of Shank1,2,3 family proteins
      smart00454
      Location:16681728
      SAM; Sterile alpha motif
      cd11984
      Location:474525
      SH3_Shank3; Src homology 3 domain of SH3 and multiple ankyrin repeat domains protein 3
      cd00204
      Location:177303
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd00992
      Location:573662
      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) ...
      pfam12796
      Location:222313
      Ank_2; Ankyrin repeats (3 copies)
      pfam16511
      Location:1092
      FERM_f0; N-terminal or F0 domain of Talin-head FERM
      sd00045
      Location:182213
      ANK; ANK repeat [structural motif]
      cl01128
      Location:53162
      DUF535; Protein of unknown function (DUF535)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p7 Primary Assembly

      Range
      50674642..50733212
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 PATCHES

    Genomic

    1. NW_015148969.1 Reference GRCh38.p7 PATCHES

      Range
      10731..69328
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018933.2 Alternate CHM1_1.1

      Range
      51072241..51130430
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. 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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