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 brain morphogenesis; intestinal motility; and swimming behavior. Predicted to be located in 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 |
| Family | IPR051569 | SH3 and multiple ankyrin repeat domains protein |
| 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
| Protein | Additional Resources | Length | Ankyrin repeat | Ankyrin repeat-containing domain superfamily | PDZ domain | PDZ domain 6 | PDZ superfamily | SH3 and multiple ankyrin repeat domains protein | SH3 domain | SH3-like domain superfamily | Sterile alpha motif domain | Sterile alpha motif/pointed domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9Q9P9 | InterPro | 1606 | ||||||||||
| UniProtKB:A0A8M6YTL6 | InterPro | 1925 | ||||||||||
| UniProtKB:A0A8M9PME4 | InterPro | 1338 | ||||||||||
| UniProtKB:A0A8M9PFR5 | InterPro | 1745 | ||||||||||
| UniProtKB:A0A8M6Z2P6 | InterPro | 1794 | ||||||||||
| UniProtKB:A0A8M9PSQ4 | InterPro | 1737 | ||||||||||
| UniProtKB:A0A8M9PPE0 | InterPro | 1274 | ||||||||||
| UniProtKB:A0A8M9PYS7 | InterPro | 1737 | ||||||||||
| UniProtKB:A0A8M6Z220 | InterPro | 1925 | ||||||||||
| UniProtKB:A0A8M9Q6T6 | InterPro | 1251 | ||||||||||
| UniProtKB:A0A8M9PQN0 | InterPro | 1896 | ||||||||||
| UniProtKB:A0A8M6YTM1 | InterPro | 1764 | ||||||||||
| UniProtKB:A0A8M9Q2N8 | InterPro | 1135 | ||||||||||
| UniProtKB:A0A8M9PVP2 | InterPro | 1266 | ||||||||||
| UniProtKB:A0A8M6YW31 | InterPro | 1904 | ||||||||||
| UniProtKB:A0A8M9PFP4 | InterPro | 1933 | ||||||||||
| UniProtKB:A0A8M6YU88 | InterPro | 1912 | ||||||||||
| UniProtKB:A0A8M3AUR6 | InterPro | 1766 | ||||||||||
| UniProtKB:A0AB32T7R6 | InterPro | 1952 |
- 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