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
Expression
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
All Phenotype Data
8 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With shank3b Human Ortholog
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
Associated With shank3b Via Experimental Models
Gene Ontology
Protein Domains
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
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA shank3b-201 (1) Ensembl 4,812 nt
mRNA shank3b-202 (1) Ensembl 5,490 nt
mRNA shank3b-203 (1) Ensembl 637 nt
mRNA shank3b-204 (1) Ensembl 4,617 nt
mRNA shank3b-205 (1) Ensembl 4,554 nt
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations