Identity
HGNC
LOCATION
22q13.33
LOCUSID
ALIAS
DEL22q13.3,PROSAP2,PSAP2,SCZD15,SPANK-2
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: 85358
MIM: 606230
HGNC: 14294
Ensembl: ENSG00000251322
Variants:
dbSNP: 85358
ClinVar: 85358
TCGA: ENSG00000251322
COSMIC: SHANK3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000251322 | ENST00000262795 | A0A0U1RQS4 |
| ENSG00000251322 | ENST00000445220 | A0A0U1RR93 |
| ENSG00000251322 | ENST00000659388 | A0A590UJY5 |
| ENSG00000251322 | ENST00000664402 | A0A590UJL3 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38218401 | 2024 | EGR1 Regulates SHANK3 Transcription at Different Stages of Brain Development. | 0 |
| 38414139 | 2024 | Evidence for common mechanisms of pathology between SHANK3 and other genes of Phelan-McDermid syndrome. | 1 |
| 38858349 | 2024 | Pharmacological modulation of developmental and synaptic phenotypes in human SHANK3 deficient stem cell-derived neuronal models. | 0 |
| 38218401 | 2024 | EGR1 Regulates SHANK3 Transcription at Different Stages of Brain Development. | 0 |
| 38414139 | 2024 | Evidence for common mechanisms of pathology between SHANK3 and other genes of Phelan-McDermid syndrome. | 1 |
| 38858349 | 2024 | Pharmacological modulation of developmental and synaptic phenotypes in human SHANK3 deficient stem cell-derived neuronal models. | 0 |
| 36845137 | 2023 | SHANK3 in vagal sensory neurons regulates body temperature, systemic inflammation, and sepsis. | 0 |
| 37003575 | 2023 | Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome. | 3 |
| 37120077 | 2023 | Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22. | 0 |
| 37211699 | 2023 | YBX1-Mediated DNA Methylation-Dependent SHANK3 Expression in PBMCs and Developing Cortical Interneurons in Schizophrenia. | 3 |
| 37392026 | 2023 | Clustering of Ca(V) 1.3 L-type calcium channels by Shank3. | 2 |
| 37868296 | 2023 | Drugs prescribed for Phelan-McDermid syndrome differentially impact sensory behaviors in shank3 zebrafish models. | 1 |
| 37947623 | 2023 | Role of the Autism Risk Gene Shank3 in the Development of Atherosclerosis: Insights from Big Data and Mechanistic Analyses. | 0 |
| 37953224 | 2023 | Expression profiles of the autism-related SHANK proteins in the human brain. | 1 |
| 36845137 | 2023 | SHANK3 in vagal sensory neurons regulates body temperature, systemic inflammation, and sepsis. | 0 |
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)
