Gene
shank3b
- ID
- ZDB-GENE-041210-74
- Name
- SH3 and multiple ankyrin repeat domains 3b
- Symbol
- shank3b Nomenclature History
- Previous Names
-
- si:dkey-153k10.1
- zs3.1 (1)
- Type
- protein_coding_gene
- Location
- Chr: 4 Mapping Details/Browsers
- Description
- Predicted to have GKAP/Homer scaffold activity and ionotropic glutamate receptor binding activity. Predicted to be involved in several processes, including nervous system development; positive regulation of synaptic transmission; and regulation of AMPA receptor activity. Predicted to colocalize with ionotropic glutamate receptor complex and postsynaptic membrane. Used to study autism spectrum disorder. Human ortholog(s) of this gene implicated in Phelan-McDermid syndrome and schizophrenia 15. Is expressed in brain; forebrain; and midbrain. Orthologous to human SHANK3 (SH3 and multiple ankyrin repeat domains 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 3 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 |
Human Disease | Fish | Conditions | Citations |
---|---|---|---|
autism spectrum disorder | shank3bfdu201/fdu201 (TU) | standard conditions | Liu et al., 2018 |
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 | 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:A0A8M6YZQ6
|
1605 | ||||||||||
UniProtKB:A0A8M6Z5I4
|
1636 | ||||||||||
UniProtKB:A0A8M6Z644
|
1551 | ||||||||||
UniProtKB:A0A8M9PQP9
|
1448 | ||||||||||
UniProtKB:A0A8M6YY75
|
1633 | ||||||||||
UniProtKB:A0A8M6YX80
|
1455 | ||||||||||
UniProtKB:A0A8M9Q1C6
|
1626 | ||||||||||
UniProtKB:A0A8M9Q4D9
|
164 | ||||||||||
UniProtKB:A0A8M3ARK3
|
1643 | ||||||||||
UniProtKB:A0A8M9PY09
|
1598 | ||||||||||
UniProtKB:A0A8M9P8N6
|
1544 | ||||||||||
UniProtKB:A0A8M9PJP8
|
1636 |
Type | Name | Annotation Method | Length (nt) | Analysis |
---|---|---|---|---|
mRNA |
shank3b-201
(1)
|
Ensembl | 4812 nt | |
mRNA |
shank3b-202
(1)
|
Havana | 5490 nt | |
mRNA |
shank3b-203
(1)
|
Havana | 637 nt | |
mRNA |
shank3b-204
(1)
|
Ensembl | 4617 nt | |
mRNA |
shank3b-205
(1)
|
Ensembl | 4554 nt |
Interactions and Pathways
No data available
Plasmids
No data available