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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
29
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANGIOEDEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 25391383, 32877673 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorder Autism Pubtator 27271353, 30392976 Associate
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism CTD_human_DG 20531469
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic Disorder Autism Pubtator 20531469, 28407363 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic Disorder Autism BEFREE 28407363, 31451081
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Breast neoplasm Pubtator 37628841, 38003265 Associate
★☆☆☆☆
Found in Text Mining only
Chronic Kidney Diseases Kidney Disease GWASCAT_DG 29885931
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Cognition disorder Pubtator 32877673 Associate
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 28901431 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Gestational Gestational diabetes Pubtator 34116986 Associate
★☆☆☆☆
Found in Text Mining only