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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
22
Cytoband
q13.33
Chromosome location (bp)
50674415 - 50733212
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
A0A0U1RQS4 [Direct mapping] SH3 and multiple ankyrin repeat domains protein 3
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other congenital disorders Chromosomal abnormalities Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
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GO:0000165[MAPK cascade] GO:0001838[embryonic epithelial tube formation] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0007416[synapse assembly] GO:0007611[learning or memory] GO:0007612[learning] GO:0007613[memory] GO:0007626[locomotory behavior] GO:0008022[protein C-terminus binding] GO:0008306[associative learning] GO:0010467[gene expression] GO:0014009[glial cell proliferation] GO:0014069[postsynaptic density] GO:0021773[striatal medium spiny neuron differentiation] GO:0031234[extrinsic component of cytoplasmic side of plasma membrane] GO:0032232[negative regulation of actin filament bundle assembly] GO:0035176[social behavior] GO:0035255[ionotropic glutamate receptor binding] GO:0035640[exploration behavior] GO:0035641[locomotory exploration behavior] GO:0040011[locomotion] GO:0043005[neuron projection] GO:0044309[neuron spine] GO:0045202[synapse] GO:0045794[negative regulation of cell volume] GO:0048167[regulation of synaptic plasticity] GO:0048170[positive regulation of long-term neuronal synaptic plasticity] GO:0048854[brain morphogenesis] GO:0050804[modulation of chemical synaptic transmission] GO:0050885[neuromuscular process controlling balance] GO:0051835[positive regulation of synapse structural plasticity] GO:0051968[positive regulation of synaptic transmission, glutamatergic] GO:0060291[long-term synaptic potentiation] GO:0060292[long-term synaptic depression] GO:0060997[dendritic spine morphogenesis] GO:0060999[positive regulation of dendritic spine development] GO:0061001[regulation of dendritic spine morphogenesis] GO:0061351[neural precursor cell proliferation] GO:0071625[vocalization behavior] GO:0097107[postsynaptic density assembly] GO:0097110[scaffold protein binding] GO:0097113[AMPA glutamate receptor clustering] GO:0097114[NMDA glutamate receptor clustering] GO:0097117[guanylate kinase-associated protein clustering] GO:0097396[response to interleukin-17] GO:0098919[structural constituent of postsynaptic density] GO:0098978[glutamatergic synapse] GO:0099562[maintenance of postsynaptic density structure] GO:1900271[regulation of long-term synaptic potentiation] GO:1900273[positive regulation of long-term synaptic potentiation] GO:1900451[positive regulation of glutamate receptor signaling pathway] GO:1900452[regulation of long-term synaptic depression] GO:1904717[regulation of AMPA glutamate receptor clustering] GO:2000463[positive regulation of excitatory postsynaptic potential] GO:2000821[regulation of grooming behavior] GO:2000822[regulation of behavioral fear response] GO:2000969[positive regulation of AMPA receptor activity]
A0A0U1RR93 [Direct mapping] SH3 and multiple ankyrin repeat domains protein 3
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other congenital disorders Chromosomal abnormalities Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
A0A590UJY5 [Direct mapping] SH3 and multiple ankyrin repeat domains protein 3
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other congenital disorders Chromosomal abnormalities Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
A0A590UJL3 [Direct mapping] SH3 and multiple ankyrin repeat domains protein 3
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other congenital disorders Chromosomal abnormalities Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
A0A8I5KZC4 [Direct mapping] SH3 and multiple ankyrin repeat domains protein 3
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other congenital disorders Chromosomal abnormalities Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
