DLGAP3

DLGAP3
Identifiers
Aliases	DLGAP3, DAP3, SAPAP3, discs large homolog associated protein 3, DLG associated protein 3, SPAPA3
External IDs	OMIM: 611413 MGI: 3039563 HomoloGene: 18276 GeneCards: DLGAP3
Gene location (Human)
Chr.	Chromosome 1 (human)[1]
End	34,929,650 bp[1]
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)[2]
End	127,130,815 bp[2]
RNA expression pattern
	Top expressed in
	cingulate gyrus; ; nucleus accumbens; ; prefrontal cortex; ; putamen; ; Brodmann area 9; ; amygdala; ; caudate nucleus; ; hippocampus proper; ; hypothalamus; ; superior frontal gyrus;
	Top expressed in
	superior frontal gyrus; ; hippocampus proper; ; prefrontal cortex; ; nucleus accumbens; ; cerebellar cortex; ; temporal lobe; ; amygdala; ; olfactory bulb; ; hypothalamus; ; Region I of hippocampus proper;
	More reference expression data
	n/a
Gene ontology
Molecular function	amyloid-beta binding; protein binding; protein domain specific binding;
Cellular component	cell junction; postsynaptic membrane; postsynaptic density; membrane; plasma membrane; synapse; neuromuscular junction; glutamatergic synapse; cholinergic synapse; postsynaptic specialization;
Biological process	signaling; modification of synaptic structure;
	Sources:Amigo / QuickGO
Orthologs
	58512
	242667
	ENSG00000116544
	ENSMUSG00000042388
	O95886
	Q6PFD5
	NM_001080418
	NM_001302081; NM_198618
	NP_001073887
	NP_001289010; NP_941020
	Wikidata
View/Edit Human	View/Edit Mouse

Disks large-associated protein 3 (DAP-3) also known as SAP90/PSD-95-associated protein 3 (SAPAP-3) is a protein that in humans is encoded by the DLGAP3 gene.

Clinical significance

Mutations in DLGAP3 have been associated with trichotillomania.[5]

References

GRCh38: Ensembl release 89: ENSG00000116544 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000042388 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
Züchner S, Wendland JR, Ashley-Koch AE, Collins AL, Tran-Viet KN, Quinn K, et al. (January 2009). "Multiple rare SAPAP3 missense variants in trichotillomania and OCD". Molecular Psychiatry. 14 (1): 6–9. doi:10.1038/mp.2008.83. PMC 2803344. PMID 19096451.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000116544 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000042388 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] Züchner S, Wendland JR, Ashley-Koch AE, Collins AL, Tran-Viet KN, Quinn K, et al. (January 2009). "Multiple rare SAPAP3 missense variants in trichotillomania and OCD". Molecular Psychiatry. 14 (1): 6–9. doi:10.1038/mp.2008.83. PMC 2803344. PMID 19096451.