Gene Gene information from NCBI Gene database.
Entrez ID 9228
Gene name DLG associated protein 2
Gene symbol DLGAP2
Synonyms (NCBI Gene)
C8orf68DAP2ERICH1-AS1SAPAP2
Chromosome 8
Chromosome location 8p23.3
Summary 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.
197
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605438 2906 ENSG00000198010
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
24
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
DLGAP2-related disorder Uncertain significance; Likely benign; Benign rs1446141774, rs2486197593, rs2485852737, rs4565482, rs773174801, rs77345811, rs199785303, rs143620327, rs751956855, rs535837045, rs1563069092, rs373089965, rs546907591, rs200214556, rs201567259
View all (9 more)
RCV003954081
RCV003406050
RCV003907246
RCV003974734
RCV003914218
RCV003977200
RCV003911447
RCV003939841
RCV003944047
RCV003951950
RCV003917271
RCV003941739
RCV003927296
RCV003951802
RCV003914560
RCV003914568
RCV003924347
RCV003907352
RCV003914736
RCV003934183
RCV003954375
RCV003954455
RCV003976875
RCV003971578
Associations from Text MiningDisease 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