MPP2

MAGUK p55 scaffold protein 2, the group of PDZ domain containing|Membrane associated guanylate kinases

Basic information

Region (hg38): 17:43875357-43909711

Previous symbols: [ "DLG2" ]

Links

ENSG00000108852NCBI:4355OMIM:600723HGNC:7220Uniprot:Q14168AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MPP2 gene.

  • not_specified (51 variants)
  • not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MPP2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005374.5. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
missense
50
clinvar
1
clinvar
51
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 50 2 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
MPP2protein_codingprotein_codingENST00000269095 1234344
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
2.88e-70.9821257110361257470.000143
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.512893710.7790.00002533558
Missense in Polyphen112154.750.723741563
Synonymous0.3141501550.9680.00001081146
Loss of Function2.201527.50.5460.00000151287

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0004230.000422
Ashkenazi Jewish0.000.00
East Asian0.0001090.000109
Finnish0.00004620.0000462
European (Non-Finnish)0.0001500.000149
Middle Eastern0.0001090.000109
South Asian0.0001310.000131
Other0.0003410.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: Postsynaptic MAGUK scaffold protein that links CADM1 cell adhesion molecules to core components of the postsynaptic density (By similarity). In CA1 pyramidal neurons, required for synaptic KCNN2-containing channel function and long-term potentiation expression (By similarity). Seems to negatively regulate SRC function in epithelial cells (PubMed:19665017). {ECO:0000250|UniProtKB:D3ZAA9, ECO:0000250|UniProtKB:Q9WV34, ECO:0000269|PubMed:19665017}.;

Recessive Scores

pRec
0.117

Intolerance Scores

loftool
0.612
rvis_EVS
-1.02
rvis_percentile_EVS
8

Haploinsufficiency Scores

pHI
0.589
hipred
Y
hipred_score
0.658
ghis
0.611

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.122

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Mpp2
Phenotype

Gene ontology

Biological process
protein homooligomerization;excitatory postsynaptic potential;long-term synaptic potentiation
Cellular component
cytoplasm;cytoskeleton;postsynaptic density;dendrite membrane;dendritic spine membrane;dendritic spine;dendritic shaft
Molecular function
protein binding