MPP3 (MAGUK p55 scaffold protein 3)

Gene

• Entrez ID: 4356
• Gene name: MAGUK p55 scaffold protein 3
• Gene symbol: MPP3
• Synonyms (NCBI Gene): DLG3
• Chromosome: 17
• Chromosome location: 17q21.31
• Summary: This gene product is a member of a family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologs). MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intracellular junctions

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1156356	hsa-miR-9	CLIP-seq
MIRT2044721	hsa-miR-4270	CLIP-seq
MIRT2044722	hsa-miR-4441	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16519681, 24503895, 28514442, 29099056, 32296183, 33961781
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	24503895, 29099056
GO:0005886	Component	Plasma membrane	IEA
GO:0005911	Component	Cell-cell junction	IBA
GO:0005912	Component	Adherens junction	IEA
GO:0005912	Component	Adherens junction	ISS
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0030165	Function	PDZ domain binding	IEA
GO:0070161	Component	Anchoring junction	IEA

Other IDs

• MIM: 601114
• HGNC: 7221
• e!Ensembl: ENSG00000161647

Protein

• UniProt ID: Q13368
• Protein name: MAGUK p55 subfamily member 3 (Discs large homolog 3) (Protein MPP3)
• Protein function: Participates in cell spreading through the phosphoinositide-3-kinase (PI3K) pathway by connecting CADM1 to DLG1 and the regulatory subunit of phosphoinositide-3-kinase (PI3K) (PubMed:24503895). Stabilizes HTR2C at the plasma membrane and prevent
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02828	L27	11 → 63	L27 domain	Domain
  PF02828	L27	69 → 120	L27 domain	Domain
  PF00595	PDZ	137 → 215	PDZ domain	Domain
  PF00625	Guanylate_kin	384 → 572	Guanylate kinase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in retina (at protein level) at the subapical region (SAR) adjacent to adherens junctions at the OLM, and at the OPL. {ECO:0000269|PubMed:16519681}.
• Sequence:

  MPVLSEDSGLHETLALLTSQLRPDSNHKEEMGFLRDVFSEKSLSYLMKIHEKLRYYERQS
  PTPVLHSAVALAEDVMEELQAASVHSDERELLQLLSTPHLRAVLMVHDTVAQKNFDPVLP
  PLPDNIDEDFDEESVKIVRLVKNKEPLGATIRRDEHSGAVVVARIMRGGAADRSGLVHVG
  DELREVNGIAVLHKRPDEISQILAQSQGSITLKIIPATQEEDRLKESKVFMRALFHYNPR
  EDRAIPCQEAGLPFQRRQVLEVVSQDDPTWWQAKRVGDTNLRAGLIPSKGFQERRLSYRR
  AAGTLPSPQSLRKPPYDQPCDKETCDCEGYLKGHYVAGLRRSFRLGCRERLGGSQEGKMS
  SGAESPELLTYEEVARYQHQPGERPRLVVLIGSLGARLHELKQKVVAENPQHFGVAVPHT
  TRPRKSHEKEGVEYHFVSKQAFEADLHHNKFLEHGEYKENLYGTSLEAIQAVMAKNKVCL
  VDVEPEALKQLRTSEFKPYIIFVKPAIQEKRKTPPMSPACEDTAAPFDEQQQEMAASAAF
  IDRHYGHLVDAVLVKEDLQGAYSQLKVVLEKLSKDTHWVPVSWVR

• Sequence length: 585

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERLIPIDEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
2-3 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anaplastic astrocytoma	Anaplastic Astrocytoma	BEFREE	24381070		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	19160128, 21384559		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	15054476, 16023328, 17113057, 18033238		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	16023328, 17113057, 18033238		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	17113057	Inhibit	★☆☆☆☆ Found in Text Mining only
Borjeson-Forssman-Lehmann syndrome	Borjeson-Forssman-Lehmann Syndrome	BEFREE	11337747		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31271664		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	31271664, 37584152	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23011156	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	23011156		★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	BEFREE	3812581		★☆☆☆☆ Found in Text Mining only
Coffin-Lowry syndrome	Coffin-Lowry Syndrome	BEFREE	11477616		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23011156		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23011156, 32571262	Associate	★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	15707237		★☆☆☆☆ Found in Text Mining only
Creatine deficiency, X-linked	Creatine deficiency	BEFREE	18350323		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	15185169	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33982443	Associate	★☆☆☆☆ Found in Text Mining only
Distal myopathy Nonaka type	Distal myopathy	Pubtator	38273165	Associate	★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	15185169, 19795139, 22659343, 24721225, 25649377, 28777483		★☆☆☆☆ Found in Text Mining only
Dystonia 3, Torsion, X-Linked	Dystonia	BEFREE	9598320		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	18985075		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	31085274		★☆☆☆☆ Found in Text Mining only
Eye Diseases Hereditary	Eye disease	Pubtator	16519681	Associate	★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	3812581, 6711589		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	24381070		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	24381070		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	33982443	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	19726651		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	10204842, 10766981, 11313739, 16983648, 17546640, 18081026, 19012350, 19160128, 19795139, 21315190, 21369957, 27222290, 27466188, 28777483, 29282697		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	10204842, 10528854, 24721225, 25649377, 27222290, 33982443, 38273165, 8825049	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	29296826		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	BEFREE	6538756		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	15054476, 16023328		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	PSYGENET_DG	15054476, 16023328, 18033238		★☆☆☆☆ Found in Text Mining only
Malignant Bone Neoplasm	Malignant Bone Neoplasm	BEFREE	31682872		★☆☆☆☆ Found in Text Mining only
Malignant Central Nervous System Neoplasm	Malignant neoplasm of the central nervous system	BEFREE	3812581		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31271664		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24381070, 31682872		★☆☆☆☆ Found in Text Mining only
Meckel Diverticulum	Meckel Diverticulum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mental impairment	Mental Depression	BEFREE	15185169		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	10204842, 10766981, 11313739, 16983648, 17546640, 18081026, 19012350, 19160128, 19795139, 21315190, 21369957		★☆☆☆☆ Found in Text Mining only
Mental Retardation Autosomal Recessive 1	Intellectual developmental disorder	Pubtator	15185169	Associate	★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	10471494, 10644430, 10946355, 12428212, 12485186, 15185169, 20613765, 21384559, 6538755, 6538756, 8826456		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	CTD_human_DG	15185169		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked 1	Mental Retardation, X-Linked	BEFREE	10449641, 12949969, 14628291, 19012350, 9783701		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked 1	Mental Retardation, X-Linked	ORPHANET_DG	15185169		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 90 (disorder)	Mental Retardation, X-Linked	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 90 (disorder)	Mental Retardation, X-Linked	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 90 (disorder)	Mental Retardation, X-Linked	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked Nonsyndromic	Mental retardation	CLINGEN_DG	15185169, 17344405, 19795139, 23103165, 24721225, 25649377, 27222290		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)	Mental retardation	BEFREE	17480217		★☆☆☆☆ Found in Text Mining only
Mild neurosensory hearing impairment	Neurosensory Hearing impairment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	BEFREE	6711589		★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	BEFREE	28777483		★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	15054476, 16023328		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	PSYGENET_DG	15054476, 16023328		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	15185169, 19795139, 22659343, 24721225, 25649377, 28777483		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12174360, 16205641, 23011156		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	18252223, 9598320		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	29296826		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30194074		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME	Partington syndrome	BEFREE	12376946		★☆☆☆☆ Found in Text Mining only
Renpenning syndrome 1	Renpenning Syndrome	BEFREE	15782410		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	12777268, 15054476, 16023328, 16762023, 17113057, 18033238		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	PSYGENET_DG	15054476, 16023328, 16762023, 17113057, 18033238		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	12174360	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	15054476, 16023328		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	PSYGENET_DG	15054476, 16023328, 18033238		★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	12376946		★☆☆☆☆ Found in Text Mining only
X-linked infantile spasms	Spasms X-Linked	BEFREE	12376946		★☆☆☆☆ Found in Text Mining only
X-linked non-syndromic intellectual disability	Non-Syndromic Intellectual Disability, X-Linked	Orphanet			★☆☆☆☆ Found in Text Mining only