Gene: SHANK3 ENSG00000251322

Description

SH3 and multiple ankyrin repeat domains 3 [Source:HGNC Symbol;Acc:14294]

Gene Synonyms

DEL22q13.3, KIAA1650, PROSAP2, PSAP2, SCZD15, SPANK-2, prosap2

Location

GRCh37:CM000684.1

About this gene

This gene has 3 transcripts (splice variants), 2 paralogues and is associated with 4 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	UniProt Match	RefSeq	Flags
ENST00000262795.3	SHANK3-201	7145	1747aa	ENSP00000442518.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	F2Z3L0 F8TCV3	NM_033517.1	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000414786.2	SHANK3-001	7394	1726aa	ENSP00000464552.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	F8TCV3 M0QWZ9	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000445220.2	SHANK3-202	7130	1742aa	ENSP00000446078.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	F5GZA1 F8TCV3	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,

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