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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SHANK3 Gene

protein-coding GIFtS: 51
GCID: GC22P051112

SH3 and multiple ankyrin repeat domains 3

Explore 19 diseases affiliated with
SHANK3 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
SH3 And Multiple Ankyrin Repeat Domains 3¹ ²		SCZD15²
PSAP2¹ ² ³ ⁵		Proline Rich Synapse Associated Protein 2²
KIAA1650¹ ³ ⁵		SH3 And Multiple Ankyrin Repeat Domains Protein 3²
SPANK-2¹ ²		Shank Postsynaptic Density Protein²
DEL22q13.3² ⁵		ProSAP2³
PROSAP2² ⁵		Shank3³
Prosap2¹		Proline-Rich Synapse-Associated Protein 2³

External Ids:	HGNC: 14294¹	Entrez Gene: 85358²	Ensembl: ENSG00000251322⁷	OMIM: 606230⁵	UniProtKB: Q9BYB0³

Export aliases for SHANK3 gene to outside databases

Previous GC identifers: GC22P047663 GC22P047619 GC22P049291 GC22P049245 GC22P049402 GC22P034005

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SHANK3:

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)

UniProtKB/Swiss-Prot: SHAN3_HUMAN, Q9BYB0

Function: Seems to be an adapter protein in the postsynaptic density (PSD) of excitatory synapses that interconnects

receptors of the postsynaptic membrane including NMDA-type and metabotropic glutamate receptors via complexes with

GKAP/PSD-95 and Homer, respectively, and the actin-based cytoskeleton. May play a role in the structural and

functional organization of the dendritic spine and synaptic junction

Gene Wiki entry for SHANK3

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000022.10 NC_018933.1 NT_011526.7

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SHANK3 gene promoter:
E2F-3a E2F-4 E2F-5 E2F-2 Meis-1b PPAR-gamma1 E2F-1 E2F Meis-1a Meis-1
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for SHANK3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SHANK3

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.3 Ensembl cytogenetic band: 22q13.33 HGNC cytogenetic band: 22q13.3

SHANK3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SHANK3 gene location

GeneLoc information about chromosome 22 GeneLoc Exon Structure

GeneLoc location for GC22P051112: view genomic region (about GC identifiers)

Start:	51,112,843 bp from pter	End:	51,171,726 bp from pter
Size:	58,884 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SHAN3_HUMAN, Q9BYB0 (See protein sequence)

Recommended Name: SH3 and multiple ankyrin repeat domains protein 3

Size: 1741 amino acids; 186295 Da

Subunit: May homomultimerize via its SAM domain (By similarity). Interacts with DLGAP1/GKAP, MGLUR1A, MGLUR5 C-termini

via its PDZ domain (By similarity). Interacts with HOMER1, HOMER2, HOMER3 and CTTN/cortactin SH3 domain (By

similarity). Is part of a complex with DLG4/PSD-95 and DLGAP1/GKAP. Interacts with DBNL. Interacts (via PDZ domain)

with PROSAPIP1 (via C-terminus) (By similarity). Interacts with BAIAP2

Subcellular location: Cytoplasm (By similarity). Cell junction, synapse (By similarity). Cell junction, synapse,

postsynaptic cell membrane, postsynaptic density (By similarity). Note=Postsynaptic density of neuronal cells (By

similarity)

Secondary accessions: Q8TET3

Alternative splicing: 2 isoforms: Q9BYB0-1 Q9BYB0-2

Explore the universe of human proteins at neXtProt for SHANK3: NX_Q9BYB0

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9BYB0

SHANK3 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_277052.1

ENSEMBL proteins:

ENSP00000464552 ENSP00000442518 ENSP00000446078

Human Recombinant Protein Products for SHANK3:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	GenScript Custom Purified and Recombinant Proteins Services for SHANK3
	Novus Biologicals SHANK3 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for SHANK3

Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IEA	--
GO:0005886	plasma membrane	ISS	--
GO:0014069	postsynaptic density	ISS	--
GO:0030054	cell junction	IEA	--
GO:0043005	neuron projection	ISS	--

SHANK3 for ontologies About GeneDecksing

SHANK3 Antibody Products:

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	Novus Biologicals SHANK3 Antibodies
	Abcam antibodies for SHANK3
	Uscn Antibodies for SHANK3
	Search ThermoFisher Antibodies for SHANK3

Assay Products for SHANK3:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for SHANK3
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for SHANK3

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SHANK3 for domains About GeneDecksing

5/8 InterPro domains/families (see all 8):

IPR011511 SH3_2

IPR013761 SAM/pointed

IPR001660 SAM

IPR001478 PDZ

IPR021129 SAM_type1

Graphical View of Domain Structure for InterPro Entry Q9BYB0

ProtoNet protein and cluster: Q9BYB0

1 Blocks protein family: IPB001660 Sterile alpha motif SAM

UniProtKB/Swiss-Prot: SHAN3_HUMAN, Q9BYB0

Similarity: Contains 6 ANK repeats

Similarity: Contains 1 PDZ (DHR) domain

Similarity: Contains 1 SAM (sterile alpha motif) domain

Similarity: Contains 1 SH3 domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: SHAN3_HUMAN, Q9BYB0

Function: Seems to be an adapter protein in the postsynaptic density (PSD) of excitatory synapses that interconnects

receptors of the postsynaptic membrane including NMDA-type and metabotropic glutamate receptors via complexes with

GKAP/PSD-95 and Homer, respectively, and the actin-based cytoskeleton. May play a role in the structural and

functional organization of the dendritic spine and synaptic junction

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	--
GO:0008022	protein C-terminus binding	ISS	--
GO:0008270	zinc ion binding	--	--
GO:0017124	SH3 domain binding	IEA	--
GO:0030160	GKAP/Homer scaffold activity	ISS	--

SHANK3 for ontologies About GeneDecksing

Phenotypes:
6 MGI mutant phenotypes (inferred from 8 alleles) (MGI details for Shank3):

behavior/neurological	growth/size	integument	nervous system	no phenotypic analysis
taste/olfaction

SHANK3 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for SHANK3: Shank3^tm1.1Geno Shank3^tm1.2Bux

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for SHANK3

miRNA Products:		OriGene 3'-UTR Clone: SHANK3 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SHANK3
		8/89 QIAGEN miScript miRNA Assays for microRNAs that regulate SHANK3 (see all 89):
		hsa-miR-579 hsa-miR-3607-3p hsa-miR-631 hsa-miR-1914* hsa-miR-128 hsa-miR-374a hsa-miR-3150b-3p hsa-miR-3622b-3p

		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SHANK3 (see all 7) OriGene shRNA RFP: SHANK3 OriGene siRNA: SHANK3
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SHANK3
		Sirion Biotech Custom design and validation of potent shRNA sequences against SHANK3

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for SHANK3
			Sirion Biotech Customized adenovirus for overexpression of SHANK3 Sirion Biotech Customized adenovirus for potent knockdown of SHANK3

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SHANK3 (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SHANK3 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: SHANK3 (NM_001080420)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for SHANK3
		Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SHANK3

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for SHANK3
		Search LifeMap BioReagents cell lines for SHANK3
		Sirion Biotech Customized stable knockdown cell line services for SHANK3 Sirion Biotech Customized inducible knockdown cell line services for SHANK3

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SHANK3

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Signaling events regulated by Ret tyrosine kinase

Signaling events regulated by Ret tyrosine kinase

1.00

Cytoskeleton remodeling Neurofilaments

Cytoplasmic microtubules

0.32

Opioid Signalling

Glutamatergic synapse

0.31

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for SHANK3

Cytoplasmic microtubules

1 BioSystems Pathway for SHANK3

Signaling events regulated by Ret tyrosine kinase

1 Kegg Pathway (Kegg details for SHANK3):

Glutamatergic synapse

SHANK3 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for SHANK3

5/26 Interacting proteins for SHANK3 (Q9BYB0^{1, 2, 3}) via UniProtKB, MINT, STRING, and/or I2D (see all 26)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PLCG1	P19174¹^,²^,³	EBI-1752330,EBI-79387 MINT-8112771 I2D: score=3
ABL1	P00519²^,³	MINT-8110755 I2D: score=3
FYN	P06241²^,³	MINT-8111523 I2D: score=3
PIK3R1	P27986²^,³	MINT-8112243 I2D: score=3
SRC	P12931²^,³	MINT-8113275 I2D: score=3

About this table

Gene Ontology (GO): 5/29 biological process terms (GO ID links to tree view) (see all 29): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001838	embryonic epithelial tube formation	--	--
GO:0007612	learning	ISS	--
GO:0007613	memory	ISS	--
GO:0021773	striatal medium spiny neuron differentiation	ISS	--
GO:0032232	negative regulation of actin filament bundle assembly	--	--

SHANK3 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

SHANK3 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SHANK3
1 Novoseek chemical compound relationship for SHANK3 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
glutamate	20.6	1	16495462 (1)

Search CenterWatch for drugs/clinical trials and news about SHANK3 / SHAN3

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SHANK3 gene (2 alternative transcripts):

NM_033517.1 NM_001080420.1

Unigene Cluster for SHANK3:

SH3 and multiple ankyrin repeat domains 3

Hs.149035 [show with all ESTs]

Unigene Representative Sequence: NM_033517

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000414786 ENST00000262795(uc003bne.1) ENST00000445220(uc003bnf.1)

miRNA Products:		OriGene 3'-UTR Clone: SHANK3 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SHANK3
		8/89 QIAGEN miScript miRNA Assays for microRNAs that regulate SHANK3 (see all 89):
		hsa-miR-579 hsa-miR-3607-3p hsa-miR-631 hsa-miR-1914* hsa-miR-128 hsa-miR-374a hsa-miR-3150b-3p hsa-miR-3622b-3p

		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SHANK3 (see all 7) OriGene shRNA RFP: SHANK3 OriGene siRNA: SHANK3
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SHANK3
		Sirion Biotech Custom design and validation of potent shRNA sequences against SHANK3

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SHANK3 (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SHANK3 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: SHANK3 (NM_001080420)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for SHANK3
		Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SHANK3

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SHANK3 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat SHANK3
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SHANK3
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SHANK3

Additional cDNA sequence:

AB051437.1 AB569469.1 AK074038.1 BC018856.2 BC045765.1 BC062987.1

12 DOTS entries:

DT.109155 DT.109915 DT.40271224 DT.100774274 DT.120643169 DT.120643207 DT.426095 DT.95228505

DT.100802585 DT.92010270 DT.92421124 DT.95280735

3 AceView cDNA sequences:

AA443953 AA444132 BF737674

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SHANK3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CGTGGGGTGT

About this image

SHANK3 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 5 LifeMap Cells

Name

Category

PureStem™ endothelial progenitor 30-MV2-12 (Embryonic Progenitor Cell)

Blood, Endothelium

PureStem™ endothelial Progenitor 30-SM2-3 (Embryonic Progenitor Cell)

Blood, Endothelium

PureStem™ endothelial progenitor 30-SM2-1 (Embryonic Progenitor Cell)

Endothelium

PureStem™ endothelial progenitor RP1-MV2-18 (Embryonic Progenitor Cell)

Endothelium

PureStem™ endothelial progenitor 30-MV2-14 (Embryonic Progenitor Cell)

Endothelium

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See SHANK3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SHANK3

SOURCE GeneReport for Unigene cluster: Hs.149035

UniProtKB/Swiss-Prot: SHAN3_HUMAN, Q9BYB0

Tissue specificity: Expressed in the cerebral cortex and the cerebellum

SABiosciences Custom PCR Arrays for SHANK3

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SHANK3 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat SHANK3
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SHANK3
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SHANK3

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SHANK3

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for SHANK3 gene from 4/13 species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	SHANK3⁶	--	70(a)	1 ↔ 1	GL343837.1(74615-149168)
zebrafish (Danio rerio)	Actinopterygii	shank3a⁶ shank3b⁶ (see all 3)	SH3 and multiple ankyrin repeat domains 3b (see all 3)	59(a) 58(a) (see all 3)	1 ↔ many 1 ↔ many (see all 3)	18(7127177-7294650) 4(8617516-8648949)
fruit fly (Drosophila melanogaster)	Insecta	Prosap⁶	Prosap	20(a)	1 → many	2R(9947961-10028403)
worm (Caenorhabditis elegans)	Secernentea	shn-1⁶	SHaNk (SH3/ankyrin domain scaffold protein) relate...	27(a)	1 → many	II(11384521-11390798)

ENSEMBL Gene Tree for SHANK3 (if available)
TreeFam Gene Tree for SHANK3 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for SHANK3 gene

6 SIMAP similar genes for SHANK3 using alignment to 10 protein entries: SHAN3_HUMAN (see all proteins):

ARHGEF7 ARHGAP23 SHANK2 OSBPL1A RAI14 HACE1

SHANK3 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for SHANK3
PGOHUM00000239381

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 22 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs80259102^1,2	C,F	--	51111103(+)	`CCACCC/TCTCCC`	1	--	us2k¹		1		NA	120
rs114401842^1,2	F	--	51111139(+)	`CTCAGC/TTGCAC`	1	--	us2k¹		1		WA	118
rs117452584^1,2	F	--	51111155(+)	`AGGCCA/CGGCCA`	1	--	us2k¹		1		EA	120
rs138038139^1,2		--	51111218(+)	`CAACCA/GTCTAG`	1	--	us2k¹		0	--	--	--	--
rs187181831^1,2		--	51111252(+)	`ACCCAC/TACACC`	1	--	us2k¹		0	--	--	--	--
rs113651792^1,2		--	51111340(+)	`GTGAGG/ACCCTG`	1	--	us2k¹		2		CSA WA	120
rs74611452^1,2	F	--	51111429(+)	`AGGTGC/GTGGTC`	1	--	us2k¹		1		WA	118
rs114398380^1,2	F	--	51111456(+)	`GGAGTG/CGGGGC`	1	--	us2k¹		1		WA	118
rs78399651^1,2		--	51111460(+)	`TGGGGG/TCTGTC`	1	--	us2k¹		3		CSA WA NA	240
rs116125310^1,2		--	51111505(+)	`TCAGGG/TTGTTT`	1	--	us2k¹		1		WA	118

HapMap Linkage Disequilibrium report for SHANK3 (51112843 - 51171726 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 9 variations for SHANK3
7 CNVs: 23655 0239 73877 5193 73878 4140 73879
2 Indels: 27110 33365
Human Gene Mutation Database (HGMD): SHANK3

SABiosciences Cancer Mutation PCR Assays

Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SHANK3

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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SHANK3 for disorders           About GeneDecksing

OMIM gene information: 606230
OMIM disorders: 606232
UniProtKB/Swiss-Prot: SHAN3_HUMAN, Q9BYB0

Note=A chromosomal aberration involving SHANK3 is found in patients with chromosome 22q13.3 deletion syndrome.

Translocation t(12;22)(q24.1;q13.3) with APPL2/DIP13B

Note=Defects in SHANK3 are associated with autism spectrum disorders (ASD). ASD are characterized by

impairments in reciprocal social interaction and communication as well as restricted and stereotyped patterns of

interest and activities. ASD include forms with moderate to severe cognitive impairment and milder forms with higher

cognitive ability (Asperger syndrome)

Defects in SHANK3 are the cause of schizophrenia type 15 (SCZD15) [MIM:613950]. SCZD15 is a complex,

multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of

thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to

the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g. bizarre or apparently purposeless

behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are

primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in

which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar

disorder symptoms and are often given the diagnosis of schizoaffective disorder

19 diseases for SHANK3: About MalaCards

phelan-mcdermid syndrome autism spectrum disorder trisomy 22 schizophrenia

jacobsen syndrome asperger syndrome intellectual disability psychotic disorder

schizoaffective disorder hepatitis a autoimmune hepatitis hypogonadism

alzheimer's disease dementia hepatitis prostate cancer

cerebritis prostatitis neuronitis

3 diseases from the University of Copenhagen DISEASES database for SHANK3:

Autistic disorder Asperger syndrome Intellectual disability

1 Novoseek disease relationship for SHANK3 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
mental retardation	55.4	1	16284256 (1)

Human Genome Epidemiology (HuGE) Navigator: SHANK3 (8 documents)

Export disorders for SHANK3 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for SHANK3 gene, integrated from 9 sources (see all 74):
(articles sorted by number of sources associating them with SHANK3)

Utopia: connect your pdf to the dynamic
world of online information

Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome. (PubMed id 11431708)^{1, 2, 3, 9} Bonaglia M.C....Zuffardi O. (2001)
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. (PubMed id 17173049)^{1, 2, 3, 9} Durand C.M.... Bourgeron T. (2007)
Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping. (PubMed id 11258795)^{1, 2, 3} Hirosawa M....Ohara O. (2001)
The Shank family of scaffold proteins. (PubMed id 10806096)^{1, 2, 3} Sheng M. and Kim E. (2000)
De novo mutations in the gene encoding the synaptic s caffolding protein SHANK3 in patients ascertained for schizophrenia. (PubMed id 20385823)^{1, 2} Gauthier J....Rouleau G.A. (2010)
The insulin receptor substrate IRSp53 links postsynaptic shank1 to the small G-protein cdc42. (PubMed id 12504591)^{1, 2} Soltau M.... Kreienkamp H.-J. (2002)
Association study of SHANK3 gene polymorphisms with a utism in Chinese Han population. (PubMed id 19566951)^{1, 9} Qin J....Zhang D. (2009)
Chromosome 22q13.3 deletion syndrome with a de novo i nterstitial 22q13.3 cryptic deletion disrupting SHANK3. (PubMed id 19454329)^{1, 9} Delahaye A....Drunat S. (2009)
DNA methylation regulates tissue-specific expression of Shank3. (PubMed id 17419801)^{1, 9} Beri S....Giorda R. (2007)
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. (PubMed id 16284256)^{1, 9} Bonaglia M.C....Zuffardi O. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 85358	HGNC: 14294	AceView: SHANK3.1	Ensembl:ENSG00000251322	euGenes: HUgn85358
ECgene: SHANK3	Kegg: 85358	H-InvDB: SHANK3

(According to HUGE)
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HUGE: KIAA1650

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for SHANK3	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SHANK3 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for SHANK3 gene:
Search GeneIP for patents involving SHANK3

GeneCards and IP:
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SH3 and multiple ankyrin repeat domains 3

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SHANK3 Gene

SH3 and multiple ankyrin repeat domains 3

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