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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; OMA:DLGAP3 - orthologs
Gene location (Human) Chr. Chromosome 1 (human) Band 1p34.3 Start 34,865,436 bp End 34,929,650 bp
Gene location (Mouse) Chr. Chromosome 4 (mouse) Band 4 D2.2|4 61.33 cM Start 127,062,997 bp End 127,130,815 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right frontal lobe cingulate gyrus anterior cingulate cortex nucleus accumbens prefrontal cortex putamen Brodmann area 9 Amygdala caudate nucleus right hemisphere of cerebellum Top expressed in superior frontal gyrus primary visual cortex dentate gyrus of hippocampal formation granule cell hippocampus proper prefrontal cortex nucleus accumbens cerebellar cortex nucleus of stria terminalis Temporal Lobe neural layer of retina More reference expression data BioGPS 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 Species Human Mouse Entrez 58512 242667 Ensembl ENSG00000116544 ENSMUSG00000042388 UniProt O95886 Q6PFD5 RefSeq (mRNA) NM_001080418 NM_001302081 NM_198618 RefSeq (protein) NP_001073887 NP_001289010 NP_941020 Location (UCSC) Chr 1: 34.87 – 34.93 Mb Chr 4: 127.06 – 127.13 Mb PubMed search
Wikidata
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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.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000116544 – Ensembl, May 2017
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.

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