SHANK3 gene homepage

General information
Gene symbol SHANK3
Gene name SH3 and multiple ankyrin repeat domains 3
Chromosome 22
Chromosomal band q13.3
Imprinted Unknown
Genomic reference NG_008607.2
Transcript reference NM_033517.1
Exon/intron information NM_033517.1 exon/intron table
Associated with diseases ID, PHMDS, SCZD-15
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 134
Unique public DNA variants reported 119
Individuals with public variants 18
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created May 01, 2012
Date last updated August 01, 2018
Version SHANK3:180801

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_033517.1.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 14294
Entrez Gene 85358
PubMed articles SHANK3
OMIM - Gene 606230
OMIM - Diseases PHMDS (Phelan-McDermid syndrome (PHMDS))
SCZD-15 (schizophrenia, type 15 (SCZD-15))
GeneCards SHANK3
GeneTests SHANK3

Active transcripts




NCBI ID     

NCBI Protein ID     

00023933 22 SH3 and multiple ankyrin repeat domains 3 NM_033517.1 NP_277052.1 134

Copyright & disclaimer
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