Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9228
Gene name Gene Name - the full gene name approved by the HGNC.
DLG associated protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DLGAP2
Synonyms (NCBI Gene) Gene synonyms aliases
C8orf68, DAP2, ERICH1-AS1, SAPAP2
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p23.3
Summary Summary of gene provided in NCBI Entrez Gene.
The product of this gene is a membrane-associated protein that may play a role in synapse organization and signalling in neuronal cells. This gene is biallelically expressed in the brain, however, only the paternal allele is expressed in the testis (PMID:
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT716570 hsa-miR-4635 HITS-CLIP 19536157
MIRT716569 hsa-miR-627-3p HITS-CLIP 19536157
MIRT716568 hsa-miR-4764-5p HITS-CLIP 19536157
MIRT716567 hsa-miR-526b-5p HITS-CLIP 19536157
MIRT716566 hsa-miR-578 HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 17474147, 25416956, 29892012, 32296183, 32814053
GO:0005883 Component Neurofilament NAS 10759891
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS
GO:0007270 Process Neuron-neuron synaptic transmission NAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605438 2906 ENSG00000198010
Protein
UniProt ID Q9P1A6
Protein name Disks large-associated protein 2 (DAP-2) (PSD-95/SAP90-binding protein 2) (SAP90/PSD-95-associated protein 2) (SAPAP2)
Protein function May play a role in the molecular organization of synapses and neuronal cell signaling. Could be an adapter protein linking ion channel to the subsynaptic cytoskeleton. May induce enrichment of PSD-95/SAP90 at the plasma membrane.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03359 GKAP 709 1054 Guanylate-kinase-associated protein (GKAP) protein Family
Tissue specificity TISSUE SPECIFICITY: Expressed in brain and kidney.
Sequence
MGTAQVLPGILQKHCCILPDRNTESQCTLCGEPEEEEAGDLVQPGISFPGPAEEDLDPQY
SWSPTQHFNEERYSPAPRSMKGLSGSRTQPPLCSGHTCGLAPPEDCEHLHHGPDARPPYL
LSPADSCPGGRHRCSPRSSVHSECVMMPVVLGDHVSSSTFPRMHYSSHYDTRDDCAVAHA
GAKINRIPANLLDQFEKQLPLHRDGFHTLQYQRTSAAAEQRSESPGRIRHLVHSVQKLFT
KSHSLEGSSKSNANGTKADGRADDHHHAHHAKHSKRSKSKERKPEGKPRPGMSSWWSSDD
NLDSDSTYRTPSVLNRHHLGPVAHCYPDALQSPFGDLSLKTSKSNNDVKCSACEGLALTP
DAKYLKRSSWSTLTVSQAKEAYRKSSLNLDKPLLHQDAKPALRPCHYLQVPQDEWGGYPT
GGKDEEIPCRRMRSGSYIKAMGDEESGESDSSPKTSPKSAILPEPLLKSIGQRPLGEHQT
QTYLQAASDVPVGHSLDPAANYNSPKFRSRNQSYMRAVSTLSQASCVSQVSEAEINGQFE
SVCESVFSEVESQAMDALDLPGCFRTRSHSYLRAIQAGYSQDDECIPMMTPSDITSTIRS
TAAVSYTNYKKTPPPVPPRTTSKPLISVTAQSSTESTQDAYQDSRAQRMSPWPQDSRGLY
NSTDSLDSNKAMNLALETAAAQRHLPESQSSSVRTSDKAILVSKAEELLKSRCSSIGIQD
SEFPEHQPYPRSDVETATDSDTESRGLREYHSVGVQVEDEKRHGRFKRSNSVTAAVQADL
ELEGFPGHITTEDKGLQFGSSFQRHSEPSTPTQYSAVRTVRTQGLFSYREDYRTQVDTST
LPPPDPWLEPAIDTVETGRMSPCRRDGSWFLKLLHAETKRMEGWCKEMEREAEENDLSEE
ILGKIRSAVGSAQLLMSQKFQQFYWLCQQNMDPSAMPRPTSQDLAGYWDMLQLSIEDVSM
KFDELQRLRLNDWKMMESPERKEERKVPPPIPKKPPKGKFPITREKSLDLPDRQRQEARR
RLMAAKRAASFRQNSASERADSIEIYIPEAQTRL
Sequence length 1054
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Bipolar Disorder Bipolar disorder N/A N/A GWAS
Breast Cancer Breast cancer N/A N/A GWAS
Insomnia Insomnia in migraine without aura N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Aging Premature Associate 32877673
Alzheimer Disease Associate 25391383, 32877673
Autism Spectrum Disorder Associate 27271353, 30392976
Autistic Disorder Associate 20531469, 28407363
Breast Neoplasms Associate 37628841, 38003265
Cognition Disorders Associate 32877673
Developmental Disabilities Associate 28901431
Diabetes Gestational Associate 34116986
Diabetes Mellitus Associate 29518789
Diffuse Neurofibrillary Tangles with Calcification Inhibit 32877673