MPP7

MAGUK p55 scaffold protein 7, the group of MicroRNA protein coding host genes|PDZ domain containing|Membrane associated guanylate kinases

Basic information

Region (hg38): 10:28050992-28334486

Links

ENSG00000150054 ∙ NCBI:143098 ∙ OMIM:610973 ∙ HGNC:26542 ∙ Uniprot:Q5T2T1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MPP7 gene.

• Inborn genetic diseases (27 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MPP7 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			27	1		28
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	27	2	0

Variants in MPP7

This is a list of pathogenic ClinVar variants found in the MPP7 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
10-28054091-C-A		not specified	Uncertain significance (Nov 07, 2023)
10-28056517-G-A		not specified	Uncertain significance (Jun 06, 2023)
10-28056557-C-G		not specified	Uncertain significance (Feb 12, 2024)
10-28056569-G-A		not specified	Uncertain significance (Mar 07, 2024)
10-28058525-G-C		not specified	Uncertain significance (Feb 12, 2024)
10-28058544-C-T		not specified	Uncertain significance (Sep 16, 2021)
10-28058545-G-A		not specified	Uncertain significance (Jun 11, 2021)
10-28058562-G-A		not specified	Uncertain significance (Jun 30, 2022)
10-28058590-C-T		not specified	Uncertain significance (Jul 26, 2022)
10-28059656-T-C		not specified	Uncertain significance (Dec 13, 2022)
10-28059705-C-G		not specified	Uncertain significance (Dec 06, 2021)
10-28059711-C-T		not specified	Uncertain significance (Nov 15, 2021)
10-28069847-C-T		not specified	Uncertain significance (May 01, 2022)
10-28089731-C-T		not specified	Uncertain significance (Dec 03, 2021)
10-28089817-A-C		not specified	Uncertain significance (Feb 10, 2022)
10-28089820-C-T		not specified	Uncertain significance (Feb 06, 2024)
10-28089830-T-G		not specified	Uncertain significance (Jun 23, 2023)
10-28119687-A-T		not specified	Uncertain significance (Apr 08, 2022)
10-28119698-C-T		not specified	Uncertain significance (Jul 26, 2021)
10-28120217-G-C		not specified	Uncertain significance (Jul 27, 2021)
10-28120243-C-T		not specified	Uncertain significance (Nov 22, 2023)
10-28120284-C-T		not specified	Uncertain significance (Mar 07, 2023)
10-28120365-T-A		not specified	Uncertain significance (Aug 22, 2023)
10-28120625-C-T		not specified	Uncertain significance (Jan 03, 2022)
10-28120637-A-G		not specified	Uncertain significance (Mar 02, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MPP7	protein_coding	protein_coding	ENST00000337532	16	283494

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.17e-11	0.856	125677	0	70	125747	0.000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.901	266	311	0.856	0.0000158	3793
Missense in Polyphen		101	125.92	0.80207		1580
Synonymous	0.0118	117	117	0.999	0.00000682	1037
Loss of Function	1.82	22	33.3	0.660	0.00000180	410

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000447	0.000446
Ashkenazi Jewish	0.00	0.00
East Asian	0.000385	0.000381
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000318	0.000316
Middle Eastern	0.000385	0.000381
South Asian	0.000296	0.000294
Other	0.000492	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as an important adapter that promotes epithelial cell polarity and tight junction formation via its interaction with DLG1. Involved in the assembly of protein complexes at sites of cell-cell contact. {ECO:0000269|PubMed:17332497}.

Recessive Scores

• pRec: 0.109

Intolerance Scores

• loftool: 0.612
• rvis_EVS: -0.82
• rvis_percentile_EVS: 11.88

Haploinsufficiency Scores

• pHI: 0.825
• hipred: N
• hipred_score: 0.393
• ghis: 0.555

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.724

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Mpp7

Zebrafish Information Network

• Gene name: mpp7a
• Affected structure: bone tissue
• Phenotype tag: abnormal
• Phenotype quality: decreased mass density

Gene ontology

• Biological process: positive regulation of signal transduction;establishment of cell polarity;positive regulation of protein complex assembly;bicellular tight junction assembly;protein localization to adherens junction
• Cellular component: nucleoplasm;adherens junction;bicellular tight junction;cell junction;MPP7-DLG1-LIN7 complex
• Molecular function: protein binding;protein domain specific binding;protein-containing complex scaffold activity;signaling adaptor activity;cadherin binding;protein heterodimerization activity