MEPE

matrix extracellular phosphoglycoprotein, the group of SIBLING family

Basic information

Region (hg38): 4:87821398-87846814

Links

ENSG00000152595

∙ NCBI:56955 ∙ OMIM:605912 ∙ HGNC:13361 ∙ Uniprot:Q9NQ76 ∙ 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 MEPE gene.

not_specified (76 variants)
MEPE-related_disorder (28 variants)
not_provided (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MEPE gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020203.6. 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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				8 clinvar	1 clinvar	9
missense			74 clinvar	7 clinvar	9 clinvar	90
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	75	15	10

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MEPE	protein_coding	protein_coding	ENST00000424957	3	25407

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00863	0.813	125635	0	77	125712	0.000306

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.188	268	277	0.968	0.0000132	3546
Missense in Polyphen		50	55.167	0.90634		790
Synonymous	0.827	87	97.4	0.893	0.00000488	935
Loss of Function	1.06	4	7.03	0.569	3.82e-7	81

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000415	0.000413
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000550	0.000545
Middle Eastern	0.00	0.00
South Asian	0.0000992	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Promotes renal phosphate excretion and inhibits intestinal phosphate absorption (PubMed:14962809, PubMed:19005008). Promotes bone mineralization by osteoblasts and cartilage mineralization by chondrocytes (PubMed:18162525, PubMed:19998030, PubMed:22766095). Regulates the mineralization of the extracellular matrix of the craniofacial complex, such as teeth, bone and cartilage (By similarity). Promotes dental pulp stem cell proliferation and differentiation (PubMed:22341070). {ECO:0000250|UniProtKB:Q8K4L6, ECO:0000269|PubMed:14962809, ECO:0000269|PubMed:18162525, ECO:0000269|PubMed:19005008, ECO:0000269|PubMed:19998030, ECO:0000269|PubMed:22341070, ECO:0000269|PubMed:22766095}.;
Pathway: Post-translational protein phosphorylation;Post-translational protein modification;Metabolism of proteins;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) (Consensus)

Recessive Scores

pRec: 0.156

Intolerance Scores

loftool: 0.975
rvis_EVS: 1.67
rvis_percentile_EVS: 96.29

Haploinsufficiency Scores

pHI: 0.237
hipred: N
hipred_score: 0.169
ghis

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.00706

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Mepe
Phenotype: hematopoietic system phenotype; skeleton phenotype; immune system phenotype;

Gene ontology

Biological process: skeletal system development;biomineral tissue development;post-translational protein modification;cellular protein metabolic process
Cellular component: endoplasmic reticulum lumen;extracellular matrix
Molecular function: extracellular matrix structural constituent;protein binding;extracellular matrix protein binding