ZFIN is now using GRCz12tu for Genomic Data
Gene
shank3a
- ID
- ZDB-GENE-060503-369
- Name
- SH3 and multiple ankyrin repeat domains 3a
- Symbol
- shank3a Nomenclature History
- Previous Names
-
- si:dkeyp-1h4.1
- zs3.2 (1)
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable ionotropic glutamate receptor binding activity and synaptic receptor adaptor activity. Acts upstream of or within several processes, including brain morphogenesis; response to psychosocial stress; and swimming behavior. Predicted to be located in cytoplasm and synapse. Predicted to be active in dendritic spine and postsynaptic density. Predicted to colocalize with postsynaptic membrane. Is expressed in brain; forebrain; hindbrain; and midbrain. Human ortholog(s) of this gene implicated in Phelan-McDermid syndrome and schizophrenia 15. Orthologous to human SHANK3 (SH3 and multiple ankyrin repeat domains 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Phelan-McDermid syndrome | Alliance | Phelan-McDermid syndrome | 606232 |
| schizophrenia 15 | Alliance | {Schizophrenia 15} | 613950 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR001452 | SH3 domain |
| Domain | IPR001478 | PDZ domain |
| Domain | IPR001660 | Sterile alpha motif domain |
| Domain | IPR041489 | PDZ domain 6 |
| Homologous_superfamily | IPR013761 | Sterile alpha motif/pointed domain superfamily |
| Homologous_superfamily | IPR036028 | SH3-like domain superfamily |
| Homologous_superfamily | IPR036034 | PDZ superfamily |
| Homologous_superfamily | IPR036770 | Ankyrin repeat-containing domain superfamily |
| Repeat | IPR002110 | Ankyrin repeat |
Domain Details Per Protein
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
shank3a-201
(1)
|
Ensembl | 4,757 nt | ||
| mRNA |
shank3a-202
(1)
|
Ensembl | 3,513 nt | ||
| mRNA |
shank3a-203
(1)
|
Ensembl | 707 nt | ||
| mRNA |
shank3a-204
(1)
|
Ensembl | 4,060 nt | ||
| mRNA |
shank3a-205
(1)
|
Ensembl | 689 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers