Human Gene SHANK3 (ENST00000692848.2_3) from GENCODE V47lift37

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Description: SH3 and multiple ankyrin repeat domains 3 (from RefSeq NM_001372044.2)
Gencode Transcript: ENST00000692848.2_3
Gencode Gene: ENSG00000251322.12_12
Transcript (Including UTRs)
Position: hg19 chr22:51,112,836-51,171,640 Size: 58,805 Total Exon Count: 23 Strand: +
Coding Region
Position: hg19 chr22:51,112,843-51,169,740 Size: 56,898 Coding Exon Count: 23

Page Index	Sequence and Links	Primers	MalaCards	CTD	Gene Alleles
Microarray Expression	RNA Structure	Other Species	mRNA Descriptions	Other Names	GeneReviews
Model Information	Methods

Data last updated at UCSC: 2024-08-22 23:36:26

Sequence and Links to Tools and Databases

Genomic Sequence (chr22:51,112,836-51,171,640)			mRNA (may differ from genome)		Protein (1792 aa)
Gene Sorter	Genome Browser	Other Species FASTA	VisiGene	Gene interactions	Table Schema
AlphaFold	BioGPS	Ensembl	Entrez Gene	ExonPrimer	GeneCards
HGNC	Malacards	MGI	OMIM	PubMed	UniProtKB
Wikipedia	BioGrid CRISPR DB

Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

MalaCards Disease Associations


	MalaCards Gene Search: SHANK3 Diseases sorted by gene-association score: schizophrenia 15* (1378), phelan-mcdermid syndrome* (1377), mutism* (400), intellectual disability* (105), autism spectrum disorder* (98), alacrima, achalasia, and mental retardation syndrome* (97), ring chromosome 22 (17), childhood disintegrative disease (16), asperger syndrome (12), schizophrenia (9), jacobsen syndrome (6), psychotic disorder (6), pervasive developmental disorder (4), bipolar disorder (4), autistic disorder (1), disease of mental health (1) * = Manually curated disease association

Comparative Toxicogenomics Database (CTD)


	The following chemicals interact with this gene C011269 2,5-hexanedione C023514 2,6-dinitrotoluene D001564 Benzo(a)pyrene D019328 Buthionine Sulfoximine D003042 Cocaine D003993 Dibutyl Phthalate D004051 Diethylhexyl Phthalate D008070 Lipopolysaccharides D008715 Methionine D008731 Methoxychlor more ... click here to view the complete list

Common Gene Haplotype Alleles


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Microarray Expression Data


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mRNA Secondary Structure of 3' and 5' UTRs

Region	Fold Energy	Bases	Energy/Base	Display As
3' UTR	-824.90	1900	-0.434	Picture	PostScript	Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

Orthologous Genes in Other Species

Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	No ortholog	No ortholog
Gene Details	Gene Details		Gene Details
Gene Sorter	Gene Sorter		Gene Sorter
	RGD	Ensembl

Descriptions from all associated GenBank mRNAs


	AB569469 - Homo sapiens SHANK3 mRNA for SH3 and multiple ankyrin repeat domains 3, complete cds. JD406801 - Sequence 387825 from Patent EP1572962. JD461601 - Sequence 442625 from Patent EP1572962. BC045765 - Homo sapiens SH3 and multiple ankyrin repeat domains 3, mRNA (cDNA clone IMAGE:5572993). AB051437 - Homo sapiens mRNA for KIAA1650 protein, partial cds. JD106342 - Sequence 87366 from Patent EP1572962. JD535961 - Sequence 516985 from Patent EP1572962. AK074038 - Homo sapiens mRNA for FLJ00090 protein. JD158100 - Sequence 139124 from Patent EP1572962. JD190600 - Sequence 171624 from Patent EP1572962. JD476158 - Sequence 457182 from Patent EP1572962. JD157506 - Sequence 138530 from Patent EP1572962. JD323432 - Sequence 304456 from Patent EP1572962. JD402132 - Sequence 383156 from Patent EP1572962. JD371211 - Sequence 352235 from Patent EP1572962. JD191806 - Sequence 172830 from Patent EP1572962. JD405983 - Sequence 387007 from Patent EP1572962. JD280260 - Sequence 261284 from Patent EP1572962. JD253457 - Sequence 234481 from Patent EP1572962. JD298345 - Sequence 279369 from Patent EP1572962. JD057586 - Sequence 38610 from Patent EP1572962. JD387649 - Sequence 368673 from Patent EP1572962. JD481124 - Sequence 462148 from Patent EP1572962. BC062987 - Homo sapiens SH3 and multiple ankyrin repeat domains 3, mRNA (cDNA clone IMAGE:5088692), partial cds. JD140379 - Sequence 121403 from Patent EP1572962. JD190581 - Sequence 171605 from Patent EP1572962. JD428697 - Sequence 409721 from Patent EP1572962. JD106331 - Sequence 87355 from Patent EP1572962. JD073926 - Sequence 54950 from Patent EP1572962. JD196398 - Sequence 177422 from Patent EP1572962. JD417965 - Sequence 398989 from Patent EP1572962. JD046724 - Sequence 27748 from Patent EP1572962. JD081811 - Sequence 62835 from Patent EP1572962. JD545804 - Sequence 526828 from Patent EP1572962. JD142258 - Sequence 123282 from Patent EP1572962. JD215258 - Sequence 196282 from Patent EP1572962. JD215029 - Sequence 196053 from Patent EP1572962. BC018856 - Homo sapiens cDNA clone IMAGE:3141153. JD482263 - Sequence 463287 from Patent EP1572962. JD533479 - Sequence 514503 from Patent EP1572962. JD422385 - Sequence 403409 from Patent EP1572962. JD198760 - Sequence 179784 from Patent EP1572962. JD154181 - Sequence 135205 from Patent EP1572962. JD504956 - Sequence 485980 from Patent EP1572962. JD136529 - Sequence 117553 from Patent EP1572962. JD551073 - Sequence 532097 from Patent EP1572962. JD069580 - Sequence 50604 from Patent EP1572962. JD171583 - Sequence 152607 from Patent EP1572962. JD403399 - Sequence 384423 from Patent EP1572962. JD265274 - Sequence 246298 from Patent EP1572962. JD400793 - Sequence 381817 from Patent EP1572962. JD381412 - Sequence 362436 from Patent EP1572962. JD405022 - Sequence 386046 from Patent EP1572962. JD078491 - Sequence 59515 from Patent EP1572962. JD370421 - Sequence 351445 from Patent EP1572962. JD098951 - Sequence 79975 from Patent EP1572962. JD315687 - Sequence 296711 from Patent EP1572962. JD166351 - Sequence 147375 from Patent EP1572962. JD055680 - Sequence 36704 from Patent EP1572962.

Other Names for This Gene


	Alternate Gene Symbols: A0A8I5KZC4, A0A8I5KZC4_HUMAN, ENST00000692848.1, NM_001372044, SHANK3 , uc330xui.1, uc330xui.2 UCSC ID: ENST00000692848.2_3 RefSeq Accession: NM_001372044.2

GeneReviews for This Gene


	GeneReviews article(s) related to gene SHANK3: gr_22q13_3 (Phelan-McDermid Syndrome-SHANK3 Related)

Gene Model Information


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Methods, Credits, and Use Restrictions


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