SHANK3 Chromosome 22
SH3 and multiple ankyrin repeat domains 3
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What This Gene Does
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]
Gene Info
Gene Group
"Ankyrin repeat domain containing|Sterile alpha motif domain containing|PDZ domain containing"
Locus Type
gene with protein product
Location
22q13.33
Ensembl
ENSG00000251322
Associated Conditions (20)
Inborn genetic diseases
Congenital anomaly of kidney and urinary tract
Phelan-McDermid syndrome
SHANK3-related disorder
Schizophrenia 15
Neurodegeneration
Abnormal cerebral white matter morphology
Hyperammonemia
Intellectual disability
Psychotic disorder
Moderate global developmental delay
Mutism
Autism spectrum disorder
See cases
Neurodevelopmental delay
Autistic behavior
Neurodevelopmental abnormality
Seizure
Global developmental delay
Neurodevelopmental disorder
Key Variants
RS1037626168
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1054399689
Conflicting classifications of pathogenicity
Inborn genetic diseases, Congenital anomaly of kidney and urinary tract, Inborn genetic diseases
Health Risk
RS1171230055
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1216527991
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1326735946
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1440735830
Conflicting classifications of pathogenicity
Phelan-McDermid syndrome, Phelan-McDermid syndrome
Health Risk
RS1464985103
Conflicting classifications of pathogenicity
Inborn genetic diseases, SHANK3-related disorder, Inborn genetic diseases
Health Risk
RS181480774
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS188531567
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2518393305
Conflicting classifications of pathogenicity
Phelan-McDermid syndrome, Phelan-McDermid syndrome
Health Risk
RS371565755
Conflicting classifications of pathogenicity
Inborn genetic diseases, SHANK3-related disorder, Inborn genetic diseases
Health Risk
RS530255181
Conflicting classifications of pathogenicity
Schizophrenia 15, Phelan-McDermid syndrome, Inborn genetic diseases
Health Risk
All Variants (171)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2082934908 | Health Risk | Pathogenic | Phelan-McDermid syndrome, Phelan-McDermid syndrome |
| RS2083233502 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2083233723 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2083271355 | Health Risk | Pathogenic | — |
| RS2083275468 | Health Risk | Pathogenic | — |
| RS2083275928 | Health Risk | Pathogenic | Intellectual disability, Autism spectrum disorder, Intellectual disability |
| RS2083278122 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS2083278313 | Health Risk | Pathogenic | — |
| RS2083278717 | Health Risk | Pathogenic | — |
| RS2083279575 | Health Risk | Pathogenic | — |
| RS2083280269 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS2083281950 | Health Risk | Pathogenic | — |
| RS2083283892 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS2083287837 | Health Risk | Pathogenic | Phelan-McDermid syndrome, Phelan-McDermid syndrome |
| RS2083287955 | Health Risk | Pathogenic | Phelan-McDermid syndrome, Phelan-McDermid syndrome |
| RS2083292400 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS2083293616 | Health Risk | Pathogenic | Intellectual disability, Phelan-McDermid syndrome, Intellectual disability |
| RS2083299114 | Health Risk | Pathogenic | — |
| RS2083358123 | Health Risk | Pathogenic | — |
| RS2083360139 | Health Risk | Pathogenic | Phelan-McDermid syndrome, Phelan-McDermid syndrome |
| RS2146772777 | Health Risk | Pathogenic | See cases, See cases |
| RS2146794652 | Health Risk | Pathogenic | Phelan-McDermid syndrome, Phelan-McDermid syndrome |
| RS2146808453 | Health Risk | Pathogenic | — |
| RS2146830613 | Health Risk | Pathogenic | Phelan-McDermid syndrome, Phelan-McDermid syndrome |
| RS2146831793 | Health Risk | Pathogenic | Phelan-McDermid syndrome, Phelan-McDermid syndrome |
| RS2146832070 | Health Risk | Pathogenic | Phelan-McDermid syndrome, Schizophrenia 15, Phelan-McDermid syndrome |
| RS2146832177 | Health Risk | Pathogenic | — |
| RS2146833064 | Health Risk | Pathogenic | — |
| RS2146833570 | Health Risk | Pathogenic | — |
| RS2146843340 | Health Risk | Pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2518371261 | Health Risk | Pathogenic | Phelan-McDermid syndrome, Phelan-McDermid syndrome |
| RS2518374358 | Health Risk | Pathogenic | — |
| RS2518397146 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2518405969 | Health Risk | Pathogenic | — |
| RS2518417913 | Health Risk | Pathogenic | Phelan-McDermid syndrome, Phelan-McDermid syndrome |
| RS2518425257 | Health Risk | Pathogenic | Phelan-McDermid syndrome, Phelan-McDermid syndrome |
| RS2518426468 | Health Risk | Pathogenic | Phelan-McDermid syndrome, Phelan-McDermid syndrome |
| RS2518426728 | Health Risk | Pathogenic | Phelan-McDermid syndrome, Phelan-McDermid syndrome |
| RS2518427127 | Health Risk | Pathogenic | Phelan-McDermid syndrome, Phelan-McDermid syndrome |
| RS2518427524 | Health Risk | Pathogenic | Phelan-McDermid syndrome, Phelan-McDermid syndrome |
| RS2518427933 | Health Risk | Pathogenic | Phelan-McDermid syndrome, Phelan-McDermid syndrome |
| RS2518428935 | Health Risk | Pathogenic | Phelan-McDermid syndrome, Phelan-McDermid syndrome |
| RS2518429694 | Health Risk | Pathogenic | Phelan-McDermid syndrome, Schizophrenia 15, Phelan-McDermid syndrome |
| RS2518429854 | Health Risk | Pathogenic | Phelan-McDermid syndrome, Phelan-McDermid syndrome |
| RS2518429888 | Health Risk | Pathogenic | Phelan-McDermid syndrome, Phelan-McDermid syndrome |
| RS2518429961 | Health Risk | Pathogenic | Phelan-McDermid syndrome, Phelan-McDermid syndrome |
| RS2518438898 | Health Risk | Pathogenic | Phelan-McDermid syndrome, Phelan-McDermid syndrome |
| RS2518438901 | Health Risk | Pathogenic | Phelan-McDermid syndrome, Phelan-McDermid syndrome |
| RS2518439281 | Health Risk | Pathogenic | Phelan-McDermid syndrome, Phelan-McDermid syndrome |
| RS2518439785 | Health Risk | Pathogenic | — |