Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1741
Gene name Gene Name - the full gene name approved by the HGNC.
Discs large MAGUK scaffold protein 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DLG3
Synonyms (NCBI Gene) Gene synonyms aliases
MRX, MRX90, NEDLG, PPP1R82, SAP102, XLID90, XLMR
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq13.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the membrane-associated guanylate kinase protein family. The encoded protein may play a role in clustering of NMDA receptors at excitatory synapses. It may also negatively regulate cell proliferation through interaction with
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs144225009 C>T Conflicting-interpretations-of-pathogenicity, benign Synonymous variant, genic upstream transcript variant, coding sequence variant
rs149595793 G>A Likely-pathogenic Missense variant, coding sequence variant
rs398122846 ->C Pathogenic Upstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs587777359 G>C Pathogenic Splice donor variant, genic upstream transcript variant
rs587777360 G>C Pathogenic Splice donor variant, upstream transcript variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017838 hsa-miR-335-5p Microarray 18185580
MIRT045183 hsa-miR-186-5p CLASH 23622248
MIRT040203 hsa-miR-615-3p CLASH 23622248
MIRT938201 hsa-miR-410 CLIP-seq
MIRT938202 hsa-miR-4652-3p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001736 Process Establishment of planar polarity IEA
GO:0005515 Function Protein binding IPI 19118189, 19389623, 25780553, 32296183
GO:0005615 Component Extracellular space HDA 22664934
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300189 2902 ENSG00000082458
Protein
UniProt ID Q92796
Protein name Disks large homolog 3 (Neuroendocrine-DLG) (Synapse-associated protein 102) (SAP-102) (SAP102) (XLMR)
Protein function Required for learning most likely through its role in synaptic plasticity following NMDA receptor signaling.
PDB 1UM7 , 2FE5 , 2I1N
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00595 PDZ 131 215 PDZ domain Domain
PF00595 PDZ 226 310 PDZ domain Domain
PF10600 PDZ_assoc 311 385 PDZ-associated domain of NMDA receptors Domain
PF00595 PDZ 386 464 PDZ domain Domain
PF00018 SH3_1 507 563 SH3 domain Domain
PF00625 Guanylate_kin 626 804 Guanylate kinase Domain
Sequence
MHKHQHCCKCPECYEVTRLAALRRLEPPGYGDWQVPDPYGPGGGNGASAGYGGYSSQTLP
SQAGATPTPRTKAKLIPTGRDVGPVPPKPVPGKSTPKLNGSGPSWWPECTCTNRDWYEQV
NGSDGMFKYEEIVLERGNSGLGFSIAGGIDNPHVPDDPGIFITKIIPGGAAAMDGRLGVN
DCVLRVNEVDVSEVVHSRAVEALKEAGPVVRLVVR
RRQPPPETIMEVNLLKGPKGLGFSI
AGGIGNQHIPGDNSIYITKIIEGGAAQKDGRLQIGDRLLAVNNTNLQDVRHEEAVASLKN
TSDMVYLKVA
KPGSLHLNDMYAPPDYASTFTALADNHISHNSSLGYLGAVESKVSYPAPP
QVPPTRYSPIPRHMLAEEDFTREPR
KIILHKGSTGLGFNIVGGEDGEGIFVSFILAGGPA
DLSGELRRGDRILSVNGVNLRNATHEQAAAALKRAGQSVTIVAQ
YRPEEYSRFESKIHDL
REQMMNSSMSSGSGSLRTSEKRSLYVRALFDYDRTRDSCLPSQGLSFSYGDILHVINASD
DEWWQARLVTPHGESEQIGVIPS
KKRVEKKERARLKTVKFHARTGMIESNRDFPGLSDDY
YGAKNLKGQEDAILSYEPVTRQEIHYARPVIILGPMKDRVNDDLISEFPHKFGSCVPHTT
RPRRDNEVDGQDYHFVVSREQMEKDIQDNKFIEAGQFNDNLYGTSIQSVRAVAERGKHCI
LDVSGNAIKRLQQAQLYPIAIFIKPKSIEALMEMNRRQTYEQANKIYDKAMKLEQEFGEY
FTAIVQGDSLEEIYNKIKQIIEDQ
SGHYIWVPSPEKL
Sequence length 817
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Hippo signaling pathway
Tight junction
Human papillomavirus infection
  Unblocking of NMDA receptors, glutamate binding and activation
Activation of Ca-permeable Kainate Receptor
RAF/MAP kinase cascade
Neurexins and neuroligins
Synaptic adhesion-like molecules
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental retardation intellectual disability rs1602880906 N/A
Mental Retardation, X-Linked Intellectual disability, X-linked 90 rs2147483647, rs1373474125, rs398122846, rs398122847, rs587777359, rs587777360, rs1602857000 N/A
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Bipolar Disorder Inhibit 17113057
Breast Neoplasms Associate 31271664, 37584152
Colorectal Neoplasms Associate 32571262
Depressive Disorder Associate 15185169
Developmental Disabilities Associate 33982443
Distal myopathy Nonaka type Associate 38273165
Heart Defects Congenital Associate 33982443
Intellectual Disability Associate 10204842, 10528854, 24721225, 25649377, 27222290, 33982443, 38273165, 8825049
Mental Disorders Associate 33982443
Mental Retardation Autosomal Recessive 1 Associate 15185169