Identity
HGNC
LOCATION
11q13.3
LOCUSID
ALIAS
AUTS17,CORTBP1,CTTNBP1,ProSAP1,SHANK,SPANK-3
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 22941
MIM: 603290
HGNC: 14295
Ensembl: ENSG00000162105
Variants:
dbSNP: 22941
ClinVar: 22941
TCGA: ENSG00000162105
COSMIC: SHANK2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37574039 | 2023 | Remote ischemic conditioning alleviates chronic cerebral hypoperfusion-induced cognitive decline and synaptic dysfunction via the miR-218a-5p/SHANK2 pathway. | 0 |
| 37953224 | 2023 | Expression profiles of the autism-related SHANK proteins in the human brain. | 1 |
| 37574039 | 2023 | Remote ischemic conditioning alleviates chronic cerebral hypoperfusion-induced cognitive decline and synaptic dysfunction via the miR-218a-5p/SHANK2 pathway. | 0 |
| 37953224 | 2023 | Expression profiles of the autism-related SHANK proteins in the human brain. | 1 |
| 36231770 | 2022 | Genetic Analysis Implicates Dysregulation of SHANK2 in Renal Cell Carcinoma Progression. | 0 |
| 36231770 | 2022 | Genetic Analysis Implicates Dysregulation of SHANK2 in Renal Cell Carcinoma Progression. | 0 |
| 32897530 | 2021 | Identification of SHANK2 Pathogenic Variants in a Chinese Uygur Population with Schizophrenia. | 2 |
| 33483523 | 2021 | SHANK2 mutations impair apoptosis, proliferation and neurite outgrowth during early neuronal differentiation in SH-SY5Y cells. | 10 |
| 32897530 | 2021 | Identification of SHANK2 Pathogenic Variants in a Chinese Uygur Population with Schizophrenia. | 2 |
| 33483523 | 2021 | SHANK2 mutations impair apoptosis, proliferation and neurite outgrowth during early neuronal differentiation in SH-SY5Y cells. | 10 |
| 32564287 | 2020 | Dynamic Change of Shanks Gene mRNA Expression and DNA Methylation in Epileptic Rat Model and Human Patients. | 2 |
| 32616021 | 2020 | meQTL and ncRNA functional analyses of 102 GWAS-SNPs associated with depression implicate HACE1 and SHANK2 genes. | 11 |
| 32796005 | 2020 | Somatic structural variation targets neurodevelopmental genes and identifies SHANK2 as a tumor suppressor in neuroblastoma. | 17 |
| 32987185 | 2020 | Phenotypic spectrum of SHANK2-related neurodevelopmental disorder. | 8 |
| 32564287 | 2020 | Dynamic 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)
