SHANK3 (SH3 and multiple ankyrin repeat domains 3)

2011-06-01  

Identity

HGNC
SHANK3
LOCATION
22q13.33
LOCUSID
85358
ALIAS
DEL22q13.3,PROSAP2,PSAP2,SCZD15,SPANK-2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 85358
MIM: 606230
HGNC: 14294
Ensembl: ENSG00000251322

Variants:

dbSNP: 85358
ClinVar: 85358
TCGA: ENSG00000251322
COSMIC: SHANK3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000251322ENST00000262795A0A0U1RQS4
ENSG00000251322ENST00000445220A0A0U1RR93
ENSG00000251322ENST00000659388A0A590UJY5
ENSG00000251322ENST00000664402A0A590UJL3

Expression (GTEx)

0
50
100
150
200
250
300
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Glutamatergic synapseKEGGko04724
Glutamatergic synapseKEGGhsa04724
Neuronal SystemREACTOMER-HSA-112316
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
Protein-protein interactions at synapsesREACTOMER-HSA-6794362
Interactions of neurexins and neuroligins at synapsesREACTOMER-HSA-6794361
RET signalingREACTOMER-HSA-8853659

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
171730492007Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.520
179993662007Contribution of SHANK3 mutations to autism spectrum disorder.228
241322402013SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients.163
197363512009Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.151
203858232010De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.136
241531772013SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties.120
129200662003Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms.116
186154762009Novel de novo SHANK3 mutation in autistic patients.111
186154762009Novel de novo SHANK3 mutation in autistic patients.111
216069272012SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism.105

Citation

Dessen P

SHANK3 (SH3 and multiple ankyrin repeat domains 3)

Atlas Genet Cytogenet Oncol Haematol. 2011-06-01

Online version: http://atlasgeneticsoncology.org/gene/52234/shank3-(sh3-and-multiple-ankyrin-repeat-domains-3)