MPP4 (MAGUK p55 scaffold protein 4)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 58538
Gene name MAGUK p55 scaffold protein 4
Gene symbol MPP4
Synonyms (NCBI Gene)
ALS2CR5DLG6
Chromosome 2
Chromosome location 2q33.1
Summary This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) protein family, with an N-terminal PDZ domain, a central src homology 3 region (SH3), and a C-terminal guanylate kinase-like (GUK) domain. The protein is localized to the outer
SNPs SNP information provided by dbSNP.
1
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs1057519443 A>G Pathogenic Missense variant, coding sequence variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (10)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 15914641
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IDA
GO:0005886 Component Plasma membrane IBA
GO:0005912 Component Adherens junction IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606575 13680 ENSG00000082126
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96JB8
Protein name MAGUK p55 subfamily member 4 (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 5 protein) (Discs large homolog 6)
Protein function May play a role in retinal photoreceptors development.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02828 L27 90 → 139 L27 domain Domain
PF00595 PDZ 155 → 232 PDZ domain Domain
PF00625 Guanylate_kin 426 → 618 Guanylate kinase Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the retina (at protein level). Highly expressed in the retina. Lower amounts are detected in brain, testis, ARPE-19, RPE/choroid and fetal eye. Isoform 5 is retina-specific. {ECO:0000269|PubMed:11414766, ECO:0000269|PubMed
Sequence 
MIQSDKGADPPDKKDMKLSTATNPQNGLSQILRLVLQELSLFYGRDVNGVCLLYDLLHSP
WLQALLKIYDCLQEFKEKKLVPATPHAQVLSYEVVELLRETPTSPEIQELRQMLQAPHFK
ALLSAHDTIAQKDFEPLLPPLPDNIPESEEAMRIVCLVKNQQPLGATIKRHEMTGDILVA
RIIHGGLAERSGLLYAGDKLVEVNGVSVEGLDPEQVIHILAMSRGTIMFKVVPVSDPPVN
SQQMVYVRAMTEYWPQEDPDIPCMDAGLPFQKGDILQIVDQNDALWWQARKISDPATCAG
LVPSNHLLKRKQREFWWSQPYQPHTCLKSTLSISMEEEDDMKIDEKCVEADEETFESEEL
SEDKEEFVGYGQKFFIAGFRRSMRLCRRKSHLSPLHASVCCTGSCYSAVGAPYEEVVRYQ
RRPSDKYRLIVLMGPSGVGVNELRRQLIEFNPSHFQSAVPHTTRTKKSYEMNGREYHYVS
KETFENLIYSHRMLEYGEYKGHLYGTSVDAVQTVLVEGKICVMDLEPQDIQGVRTHELKP
YVIFIKPSNMRCMKQSRKNAKVITDYYVDMKFKDEDLQEMENLAQRMETQFGQFFDHVIV
NDSLHDACAQLLSAIQKAQEEPQWVPATWISSDTESQ
Sequence length 637
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Tight junction  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Gene SNPs Gene ontology Other IDs Protein Pathways 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)
Show/Hide Unknown Diseases (6)
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
BREAST CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BYZANTHINE ARCH PALATE — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (8)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma GWASCAT_DG 29059683
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Byzanthine arch palate High palate CLINVAR_DG
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Global developmental delay Developmental Delay CLINVAR_DG
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Meckel syndrome type 1 Meckel-gruber syndrome Pubtator 26729329 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Retinitis Pigmentosa Retinitis Pigmentosa BEFREE 12384283
★★★★★
★☆☆☆☆
Found in Text Mining only
Retinitis Pigmentosa 26 Retinitis Pigmentosa BEFREE 12384283
★★★★★
★☆☆☆☆
Found in Text Mining only
Schizophrenia Schizophrenia GWASCAT_DG 28924203
★★★★★
★☆☆☆☆
Found in Text Mining only
Strabismus Strabismus CLINVAR_DG
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations