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

Description

Predicted to have GKAP/Homer scaffold activity and ionotropic glutamate receptor binding activity. Involved in brain morphogenesis and swimming behavior. Predicted to colocalize with ionotropic glutamate receptor complex and postsynaptic membrane. Human ortholog(s) of this gene implicated in Phelan-McDermid syndrome and schizophrenia 15. Is expressed in brain; forebrain; hindbrain; 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

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 6 figures from 2 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With shank3a 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 shank3a Via Experimental Models

No data available

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: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

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	shank3a-201 (1) Ensembl	Ensembl	4,757 nt	Select Tool ZFIN BLAST
mRNA	shank3a-202 (1) Ensembl	Ensembl	3,513 nt	Select Tool ZFIN BLAST
mRNA	shank3a-203 (1) Ensembl	Ensembl	707 nt	Select Tool
mRNA	shank3a-204 (1) Ensembl	Ensembl	4,060 nt	Select Tool
mRNA	shank3a-205 (1) Ensembl	Ensembl	689 nt	Select Tool

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