G2Cdb::Gene report
- Gene id
- G00001821
- Gene symbol
- SHANK2 (HGNC)
- Species
- Homo sapiens
- Description
- SH3 and multiple ankyrin repeat domains 2
- Orthologue
- G00000572 (Mus musculus)
Databases (8)
- Curated Gene
- OTTHUMG00000134303 (Vega human gene)
- Gene
- ENSG00000162105 (Ensembl human gene)
- 22941 (Entrez Gene)
- 29 (G2Cdb plasticity & disease)
- SHANK2 (GeneCards)
- Literature
- 603290 (OMIM)
- Marker Symbol
- HGNC:14295 (HGNC)
- Protein Sequence
- Q9UPX8 (UniProt)
Synonyms (4)
- CTTNBP1
- ProSAP1
- SHANK
- SPANK-3
Diseases (5)
| Disease | Nervous effect | Mutations Found | Literature | Mutations Type | Genetic association? |
|---|---|---|---|---|---|
| D00000220: Hearing impairment (autosomal recessive nonsyndromic) | Y | N | (17211611) | No mutation found (N) | N |
| D00000220: Hearing impairment (autosomal recessive nonsyndromic) | Y | N | (17166180) | No mutation found (N) | N |
| D00000166: Schizophrenia | Y | N | (9800222) | Repeat polymorphism (RP) | Y |
| D00000166: Schizophrenia | Y | N | (11353443) | Repeat polymorphism (RP) | N |
| D00000166: Schizophrenia | Y | N | (15276701) | Repeat polymorphism (RP) | Y |
| D00000166: Schizophrenia | Y | N | (11807411) | Repeat polymorphism (RP) | N |
| D00000171: Major depressive disorder | Y | N | (15118355) | Repeat polymorphism (RP) | ? |
| D00000170: Bipolar disorder | Y | N | (15118355) | Repeat polymorphism (RP) | N |
| D00000170: Bipolar disorder | Y | N | (12895207) | Repeat polymorphism (RP) | N |
| D00000139: Diabetes mellitus | N | N | (12765847) | Single nucleotide polymorphism (SNP) | Y |
| D00000166: Schizophrenia | Y | N | (15999343) | Single nucleotide polymorphism (SNP) | Y |
| D00000166: Schizophrenia | Y | N | (15318030) | Polymorphism (P) | N |
References
Literature (35)
Pubmed - human_disease
Pubmed - other
Gene lists (8)
| Gene List | Source | Species | Name | Description | Gene count |
|---|---|---|---|---|---|
| L00000009 | G2C | Homo sapiens | Human PSD | Human orthologues of mouse PSD adapted from Collins et al (2006) | 1080 |
| L00000015 | G2C | Homo sapiens | Human NRC | Human orthologues of mouse NRC adapted from Collins et al (2006) | 186 |
| L00000016 | G2C | Homo sapiens | Human PSP | Human orthologues of mouse PSP adapted from Collins et al (2006) | 1121 |
| L00000038 | G2C | Homo sapiens | Pocklington H7 | Human orthologues of cluster 7 (mouse) from Pocklington et al (2006) | 4 |
| L00000059 | G2C | Homo sapiens | BAYES-COLLINS-HUMAN-PSD-CONSENSUS | Human cortex PSD consensus | 748 |
| L00000061 | G2C | Homo sapiens | BAYES-COLLINS-MOUSE-PSD-CONSENSUS | Mouse cortex PSD consensus (ortho) | 984 |
| L00000069 | G2C | Homo sapiens | BAYES-COLLINS-HUMAN-PSD-FULL | Human cortex biopsy PSD full list | 1461 |
| L00000071 | G2C | Homo sapiens | BAYES-COLLINS-MOUSE-PSD-FULL | Mouse cortex PSD full list (ortho) | 1556 |