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SHANK2 SH3 and multiple ankyrin repeat domains 2 [ Homo sapiens (human) ]

Gene ID: 22941, updated on 4-Oct-2020

Summary

Official Symbol
SHANK2provided by HGNC
Official Full Name
SH3 and multiple ankyrin repeat domains 2provided by HGNC
Primary source
HGNC:HGNC:14295
See related
Ensembl:ENSG00000162105 MIM:603290
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
SHANK; AUTS17; CORTBP1; CTTNBP1; ProSAP1; SPANK-3
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]
Expression
Broad expression in brain (RPKM 4.2), kidney (RPKM 2.6) and 18 other tissues See more
Orthologs

Genomic context

See SHANK2 in Genome Data Viewer
Location:
11q13.3-q13.4
Exon count:
30
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (70467854..71252724, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (70313961..70935808, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984347 Neighboring gene PTPRF interacting protein alpha 1 Neighboring gene cortactin Neighboring gene Sharpr-MPRA regulatory region 3810 Neighboring gene SHANK2 antisense RNA 1 Neighboring gene SHANK2 antisense RNA 3 Neighboring gene microRNA 3664 Neighboring gene actin epsilon 1, pseudogene Neighboring gene 7-dehydrocholesterol reductase

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
A genome-wide association study of recipient genotype and medium-term kidney allograft function.
GeneReviews: Not available
Autism 17
MedGen: C3150693 OMIM: 613436 GeneReviews: Not available
Compare labs
Autism spectrum disorder
MedGen: C1510586 GeneReviews: Not available
Compare labs
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available
Preliminary evidence of genetic determinants of adiponectin response to fenofibrate in the Genetics of Lipid Lowering Drugs and Diet Network.
GeneReviews: Not available

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2018-01-24)

ClinGen Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated (2018-01-24)

ClinGen Genome Curation PagePubMed

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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 NAS
Non-traceable Author Statement
more info
PubMed 
SH3 domain 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 binding IPI
Inferred from Physical Interaction
more info
PubMed 
receptor signaling complex scaffold activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
adult behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
behavior IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
brain morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dendritic spine morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
learning IMP
Inferred from Mutant Phenotype
more info
PubMed 
long-term synaptic depression ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
long-term synaptic potentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
long-term synaptic potentiation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of dendritic spine development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of excitatory postsynaptic potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of synaptic transmission, glutamatergic IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
postsynaptic density assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of AMPA receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
social behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
synapse assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synapse assembly ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
synaptic growth at neuromuscular junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vocalization behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
brush border membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular_component ND
No biological Data available
more info
 
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 
dendritic spine ISS
Inferred from Sequence or Structural Similarity
more info
 
growth cone 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 
colocalizes_with ionotropic glutamate receptor complex ISS
Inferred from Sequence or Structural Similarity
more info
 
colocalizes_with neurofilament ISS
Inferred from Sequence or Structural Similarity
more info
 
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 
neuronal cell body ISS
Inferred from Sequence or Structural Similarity
more info
 
photoreceptor inner segment ISS
Inferred from Sequence or Structural Similarity
more info
 
photoreceptor outer segment ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane 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 
colocalizes_with postsynaptic membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
SH3 and multiple ankyrin repeat domains protein 2
Names
GKAP/SAPAP interacting protein
cortactin SH3 domain-binding protein
cortactin-binding protein 1
proline-rich synapse associated protein 1

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.

Genomic

  1. NG_042866.1 RefSeqGene

    Range
    5001..661941
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001379226.1NP_001366155.1  SH3 and multiple ankyrin repeat domains protein 2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AP000590, AP001271, AP003783
    Related
    ENSP00000499561.1, ENST00000656230.1
  2. NM_012309.5NP_036441.2  SH3 and multiple ankyrin repeat domains protein 2 isoform 1

    See identical proteins and their annotated locations for NP_036441.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC234421, AP000590, AP001271, AP003783, AP004370, AP005401
    UniProtKB/Swiss-Prot
    Q9UPX8
    Conserved Domains (8) summary
    cd09506
    Location:17821847
    SAM_Shank1,2,3; SAM domain of Shank1,2,3 family proteins
    smart00454
    Location:17831849
    SAM; Sterile alpha motif
    cd11983
    Location:529580
    SH3_Shank2; Src homology 3 domain of SH3 and multiple ankyrin repeat domains protein 2
    cd00204
    Location:225351
    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:624717
    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:270361
    Ank_2; Ankyrin repeats (3 copies)
    pfam16511
    Location:57140
    FERM_f0; N-terminal or F0 domain of Talin-head FERM
    sd00045
    Location:230261
    ANK; ANK repeat [structural motif]
  3. NM_133266.5NP_573573.2  SH3 and multiple ankyrin repeat domains protein 2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in its 5' UTR, lacks a portion of the 5' coding region, and uses an alternate start codon, compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AP000590, AP001271
    Consensus CDS
    CCDS76448.1
    UniProtKB/Swiss-Prot
    Q9UPX8
    UniProtKB/TrEMBL
    A6NHU9, C0SPH0
    Related
    ENSP00000345193.6, ENST00000338508.8
    Conserved Domains (3) summary
    cd09506
    Location:11941259
    SAM_Shank1,2,3; SAM domain of Shank1,2,3 family proteins
    smart00454
    Location:11951261
    SAM; Sterile alpha motif
    cd00992
    Location:36129
    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) ...

RNA

  1. NR_110766.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site at an internal exon and lacks two internal exons, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AP000590, AP001271

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    70467854..71252724 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017017389.1XP_016872878.1  SH3 and multiple ankyrin repeat domains protein 2 isoform X2

  2. XM_017017388.1XP_016872877.1  SH3 and multiple ankyrin repeat domains protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q9UPX8
    Conserved Domains (8) summary
    cd09506
    Location:17821847
    SAM_Shank1,2,3; SAM domain of Shank1,2,3 family proteins
    smart00454
    Location:17831849
    SAM; Sterile alpha motif
    cd11983
    Location:529580
    SH3_Shank2; Src homology 3 domain of SH3 and multiple ankyrin repeat domains protein 2
    cd00204
    Location:225351
    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:624717
    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:270361
    Ank_2; Ankyrin repeats (3 copies)
    pfam16511
    Location:57140
    FERM_f0; N-terminal or F0 domain of Talin-head FERM
    sd00045
    Location:230261
    ANK; ANK repeat [structural motif]
  3. XM_017017387.1XP_016872876.1  SH3 and multiple ankyrin repeat domains protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q9UPX8
    Related
    ENSP00000469689.2, ENST00000601538.5
    Conserved Domains (8) summary
    cd09506
    Location:17821847
    SAM_Shank1,2,3; SAM domain of Shank1,2,3 family proteins
    smart00454
    Location:17831849
    SAM; Sterile alpha motif
    cd11983
    Location:529580
    SH3_Shank2; Src homology 3 domain of SH3 and multiple ankyrin repeat domains protein 2
    cd00204
    Location:225351
    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:624717
    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:270361
    Ank_2; Ankyrin repeats (3 copies)
    pfam16511
    Location:57140
    FERM_f0; N-terminal or F0 domain of Talin-head FERM
    sd00045
    Location:230261
    ANK; ANK repeat [structural motif]
  4. XM_017017390.1XP_016872879.1  SH3 and multiple ankyrin repeat domains protein 2 isoform X4

    Related
    ENSP00000499270.1, ENST00000659264.1
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