Gene Gene information from NCBI Gene database.
Entrez ID 22839
Gene name DLG associated protein 4
Gene symbol DLGAP4
Synonyms (NCBI Gene)
DAP-4DAP4DLP4SAPAP-4SAPAP4
Chromosome 20
Chromosome location 20q11.23
Summary The product of this gene is a membrane-associated guanylate kinase found at the postsynaptic density in neuronal cells. It is a signaling molecule that can interact with potassium channels and receptors, as well as other signaling molecules. The protein e
miRNA miRNA information provided by mirtarbase database.
310
miRTarBase ID miRNA Experiments Reference
MIRT028927 hsa-miR-26b-5p Microarray 19088304
MIRT052886 hsa-miR-3909 CLASH 23622248
MIRT478090 hsa-miR-4768-3p PAR-CLIP 23592263
MIRT478089 hsa-miR-6770-5p PAR-CLIP 23592263
MIRT478088 hsa-miR-4722-5p PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16275660, 17474147, 32296183
GO:0005886 Component Plasma membrane TAS
GO:0016020 Component Membrane IEA
GO:0023052 Process Signaling IEA
GO:0031594 Component Neuromuscular junction IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616191 24476 ENSG00000080845
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y2H0
Protein name Disks large-associated protein 4 (DAP-4) (PSD-95/SAP90-binding protein 4) (SAP90/PSD-95-associated protein 4) (SAPAP-4)
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 660 992 Guanylate-kinase-associated protein (GKAP) protein Family
Sequence
MKGLGDSRPRHLSDSLDPPHEPLFAGTDRNPYLLSPTEAFAREARFPGQNTLPGDGLFPL
NNQLPPPSSTFPRIHYNSHFEVPEESPFPSHAQATKINRLPANLLDQFEKQLPIHRDGFS
TLQFPRGEAKARGESPGRIRHLVHSVQRLFFTKAPSLEGTAGKVGGNGSKKGGMEDGKGR
RAKSKERAKAGEPKRRSRSNISGWWSSDDNLDGEAGAFRSSGPASGLMTLGRQAERSQPR
YFMHAYNTISGHMLKTTKNNTTELTAPPPPPAPPATCPSLGVGTDTNYVKRGSWSTLTLS
HAHEVCQKTSATLDKSLLKSKSCHQGLAYHYLQVPGGGGEWSTTLLSPRETDAAAEGPIP
CRRMRSGSYIKAMGDEDSDESGGSPKPSPKTAARRQSYLRATQQSLGEQSNPRRSLDRLD
SVDMLLPSKCPSWEEDYTPVSDSLNDSSCISQIFGQASLIPQLFGHEQQVREAELSDQYE
AACESACSEAESTAAETLDLPLPSYFRSRSHSYLRAIQAGCSQEEDSVSLQSLSPPPSTG
SLSNSRTLPSSSCLVAYKKTPPPVPPRTTSKPFISVTVQSSTESAQDTYLDSQDHKSEVT
SQSGLSNSSDSLDSSTRPPSVTRGGVAPAPEAPEPPPKHAALKSEQGTLTSSESHPEAAP
KRKLSSIGIQVDCIQPVPKEEPSPATKFQSIGVQVEDDWRSSVPSHSMSSRRDTDSDTQD
ANDSSCKSSERSLPDCTPHPNSISIDAGPRQAPKIAQIKRNLSYGDNSDPALEASSLPPP
DPWLETSSSSPAEPAQPGACRRDGYWFLKLLQAETERLEGWCCQMDKETKENNLSEEVLG
KVLSAVGSAQLLMSQKFQQFRGLCEQNLNPDANPRPTAQDLAGFWDLLQLSIEDISMKFD
ELYHLKANSWQLVETPEKRKEEKKPPPPVPKKPAKSKPAVSRDKASDASDKQRQEARKRL
LAAKRAASVRQNSATESADSIEIYVPEAQTRL
Sequence length 992
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Neurexins and neuroligins
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
BASAL CELL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BILIARY TRACT CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CANCER 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
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 30664629
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 30664629
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 36396671 Associate
★☆☆☆☆
Found in Text Mining only
Cerebellar Ataxia Cerebellar ataxia Pubtator 24986922 Associate
★☆☆☆☆
Found in Text Mining only
Cerebellar Ataxia, Early Onset Cerebellar Ataxia BEFREE 24986922
★☆☆☆☆
Found in Text Mining only
Depressive Disorder Major depressive disorder Pubtator 32646340 Associate
★☆☆☆☆
Found in Text Mining only
Endometrial Carcinoma Endometrial carcinoma BEFREE 31338326
★☆☆☆☆
Found in Text Mining only
Impaired cognition Impaired Cognition BEFREE 30664629
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 32646340 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of endometrium Endometrial Cancer BEFREE 31338326
★☆☆☆☆
Found in Text Mining only