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.

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.

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						0
missense			34	1		35
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	34	1	0

Variants in MEP1B

This is a list of pathogenic ClinVar variants found in the MEP1B region.

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

Position	Type	Phenotype	Significance	ClinVar
18-32190123-T-C		not specified	Uncertain significance (Sep 27, 2021)
18-32192685-A-G		not specified	Uncertain significance (Dec 02, 2022)
18-32195471-T-C		not specified	Uncertain significance (Jul 14, 2023)
18-32195471-T-G		not specified	Uncertain significance (Dec 06, 2022)
18-32202916-C-T		not specified	Uncertain significance (Dec 14, 2023)
18-32202920-A-G		not specified	Uncertain significance (May 09, 2024)
18-32202963-G-T		not specified	Uncertain significance (Mar 06, 2023)
18-32204205-G-A		not specified	Uncertain significance (Jun 24, 2022)
18-32204231-A-T		not specified	Uncertain significance (May 08, 2024)
18-32204234-G-T		not specified	Uncertain significance (Sep 13, 2022)
18-32204253-T-C		not specified	Uncertain significance (Oct 02, 2023)
18-32204258-A-T		not specified	Uncertain significance (Feb 13, 2024)
18-32204306-T-A		not specified	Uncertain significance (Dec 06, 2022)
18-32204307-C-T		not specified	Uncertain significance (Feb 09, 2022)
18-32207437-G-C		not specified	Uncertain significance (Dec 21, 2023)
18-32208211-C-T		not specified	Uncertain significance (Jul 15, 2021)
18-32208239-A-G		not specified	Uncertain significance (Dec 15, 2022)
18-32208254-A-G		not specified	Uncertain significance (Nov 27, 2023)
18-32210545-G-C		not specified	Uncertain significance (Aug 10, 2021)
18-32210549-C-A		not specified	Uncertain significance (Dec 15, 2023)
18-32213193-C-T		not specified	Uncertain significance (Jul 06, 2021)
18-32213233-A-G		not specified	Uncertain significance (Oct 06, 2022)
18-32213260-G-T		not specified	Uncertain significance (Mar 01, 2023)
18-32213269-A-T		not specified	Uncertain significance (Sep 29, 2023)
18-32213502-A-G		not specified	Uncertain significance (Jul 06, 2021)

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

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