Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: SHANK3 (SH3 and multiple ankyrin repeat domains 3) Homo sapiens
Analyze
Symbol: SHANK3
Name: SH3 and multiple ankyrin repeat domains 3
Description: Predicted to have several functions, including GKAP/Homer scaffold activity; SH3 domain binding activity; and ionotropic glutamate receptor binding activity. Involved in several processes, including social behavior; vocal learning; and vocalization behavior. Predicted to colocalize with ionotropic glutamate receptor complex and postsynaptic membrane. Implicated in Phelan-McDermid syndrome and schizophrenia 15.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: DEL22q13.3; KIAA1650; proline rich synapse associated protein 2; proline-rich synapse-associated protein 2; PROSAP2; PSAP2; SCZD15; SH3 and multiple ankyrin repeat domains protein 3; sh3/ankyrin domain gene 3; shank postsynaptic density protein; SPANK-2
Orthologs:
Mus musculus (house mouse) : Shank3 (SH3 and multiple ankyrin repeat domains 3)  MGI  Alliance
Rattus norvegicus (Norway rat) : Shank3 (SH3 and multiple ankyrin repeat domains 3)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Shank3 (SH3 and multiple ankyrin repeat domains 3)
Pan paniscus (bonobo/pygmy chimpanzee) : SHANK3 (SH3 and multiple ankyrin repeat domains 3)
Canis lupus familiaris (dog) : SHANK3 (SH3 and multiple ankyrin repeat domains 3)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Shank3 (SH3 and multiple ankyrin repeat domains 3)
Sus scrofa (pig) : SHANK3 (SH3 and multiple ankyrin repeat domains 3)
Chlorocebus sabaeus (African green monkey) : SHANK3 (SH3 and multiple ankyrin repeat domains 3)
Heterocephalus glaber (naked mole-rat) : Shank3 (SH3 and multiple ankyrin repeat domains 3)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Annotation category: partial on reference assembly
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl2250,674,415 - 50,733,298 (+)EnsemblGRCh38hg38GRCh38
GRCh382250,674,391 - 50,733,212 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372251,113,070 - 51,171,640 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362249,459,936 - 49,518,507 (+)NCBINCBI36hg18NCBI36
Build 342249,449,206 - 49,461,782NCBI
Celera2234,989,101 - 35,047,689 (+)NCBI
Cytogenetic Map22q13.33NCBI
HuRef2234,005,374 - 34,064,052 (+)NCBIHuRef
CHM1_12251,072,241 - 51,130,430 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on SHANK3
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 732251
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2020-03-31
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.