MEP1B

meprin A subunit beta, the group of Astacins

Basic information

Region (hg38): 18:32185069-32220404

Links

ENSG00000141434

∙ NCBI:4225 ∙ OMIM:600389 ∙ HGNC:7020 ∙ Uniprot:Q16820 ∙ 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 MEP1B gene.

not_specified (71 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MEP1B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005925.3. 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						0
missense			70 clinvar	1 clinvar		71
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	70	1	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MEP1B	protein_coding	protein_coding	ENST00000269202	15	35336

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.94e-24	0.000721	124227	0	412	124639	0.00165

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.717	341	380	0.897	0.0000195	4627
Missense in Polyphen		129	143.48	0.89909		1786
Synonymous	2.12	99	130	0.763	0.00000655	1284
Loss of Function	0.158	37	38.0	0.972	0.00000202	426

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00549	0.00548
Ashkenazi Jewish	0.0148	0.0149
East Asian	0.000617	0.000612
Finnish	0.0000930	0.0000928
European (Non-Finnish)	0.00101	0.000983
Middle Eastern	0.000617	0.000612
South Asian	0.000930	0.000915
Other	0.00198	0.00198

dbNSFP

Source: dbNSFP

Function: FUNCTION: Membrane metallopeptidase that sheds many membrane-bound proteins. Exhibits a strong preference for acidic amino acids at the P1' position. Known substrates include: FGF19, VGFA, IL1B, IL18, procollagen I and III, E-cadherin, KLK7, gastrin, ADAM10, tenascin-C. The presence of several pro-inflammatory cytokine among substrates implicate MEP1B in inflammation. It is also involved in tissue remodeling due to its capability to degrade extracellular matrix components. {ECO:0000269|PubMed:21693781}.;
Pathway: Protein digestion and absorption - Homo sapiens (human);Posttranslational regulation of adherens junction stability and dissassembly (Consensus)

Recessive Scores

pRec: 0.135

Intolerance Scores

loftool: 0.854
rvis_EVS: 0.76
rvis_percentile_EVS: 86.82

Haploinsufficiency Scores

pHI: 0.163
hipred: N
hipred_score: 0.251
ghis

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.613

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Mep1b
Phenotype: growth/size/body region phenotype; homeostasis/metabolism phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; renal/urinary system phenotype; immune system phenotype;

Zebrafish Information Network

Gene name: mep1b
Affected structure: post-vent region
Phenotype tag: abnormal
Phenotype quality: disorganized

Gene ontology

Biological process: proteolysis;inflammatory response;toxin transport
Cellular component: extracellular region;integral component of plasma membrane;meprin A complex
Molecular function: metalloendopeptidase activity;protein binding;zinc ion binding;identical protein binding