SHANK2 (SH3 and multiple ankyrin repeat domains 2)

2006-12-01  

Identity

HGNC
SHANK2
LOCATION
11q13.3
LOCUSID
22941
ALIAS
AUTS17,CORTBP1,CTTNBP1,ProSAP1,SHANK,SPANK-3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 22941
MIM: 603290
HGNC: 14295
Ensembl: ENSG00000162105

Variants:

dbSNP: 22941
ClinVar: 22941
TCGA: ENSG00000162105
COSMIC: SHANK2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162105ENST00000338508A6NHU9
ENSG00000162105ENST00000357171E7EX50
ENSG00000162105ENST00000409161E7EUA2
ENSG00000162105ENST00000412252H0Y7S5
ENSG00000162105ENST00000424924H7C1X5
ENSG00000162105ENST00000426687H7BZV1
ENSG00000162105ENST00000449833A0A0A0MSQ6
ENSG00000162105ENST00000468619A0A087X158
ENSG00000162105ENST00000601538Q9UPX8
ENSG00000162105ENST00000608988C9JFP8
ENSG00000162105ENST00000645599A0A2R8Y2H5
ENSG00000162105ENST00000654939A0A590UJF3
ENSG00000162105ENST00000656230Q9UPX8
ENSG00000162105ENST00000659264A0A590UJ45

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
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
Protein-protein interactions at synapsesREACTOMER-HSA-6794362
Interactions of neurexins and neuroligins at synapsesREACTOMER-HSA-6794361

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
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
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
375740392023Remote ischemic conditioning alleviates chronic cerebral hypoperfusion-induced cognitive decline and synaptic dysfunction via the miR-218a-5p/SHANK2 pathway.0
379532242023Expression profiles of the autism-related SHANK proteins in the human brain.1
375740392023Remote ischemic conditioning alleviates chronic cerebral hypoperfusion-induced cognitive decline and synaptic dysfunction via the miR-218a-5p/SHANK2 pathway.0
379532242023Expression profiles of the autism-related SHANK proteins in the human brain.1
362317702022Genetic Analysis Implicates Dysregulation of SHANK2 in Renal Cell Carcinoma Progression.0
362317702022Genetic Analysis Implicates Dysregulation of SHANK2 in Renal Cell Carcinoma Progression.0
328975302021Identification of SHANK2 Pathogenic Variants in a Chinese Uygur Population with Schizophrenia.2
334835232021SHANK2 mutations impair apoptosis, proliferation and neurite outgrowth during early neuronal differentiation in SH-SY5Y cells.10
328975302021Identification of SHANK2 Pathogenic Variants in a Chinese Uygur Population with Schizophrenia.2
334835232021SHANK2 mutations impair apoptosis, proliferation and neurite outgrowth during early neuronal differentiation in SH-SY5Y cells.10
325642872020Dynamic Change of Shanks Gene mRNA Expression and DNA Methylation in Epileptic Rat Model and Human Patients.2
326160212020meQTL and ncRNA functional analyses of 102 GWAS-SNPs associated with depression implicate HACE1 and SHANK2 genes.11
327960052020Somatic structural variation targets neurodevelopmental genes and identifies SHANK2 as a tumor suppressor in neuroblastoma.17
329871852020Phenotypic spectrum of SHANK2-related neurodevelopmental disorder.8
325642872020Dynamic Change of Shanks Gene mRNA Expression and DNA Methylation in Epileptic Rat Model and Human Patients.2

Citation

Dessen P

SHANK2 (SH3 and multiple ankyrin repeat domains 2)

Atlas Genet Cytogenet Oncol Haematol. 2006-12-01

Online version: http://atlasgeneticsoncology.org/gene/42992/shank2-(sh3-and-multiple-ankyrin-repeat-domains-2)