MMRN2

multimerin 2, the group of EMI domain containing|C1q domain containing

Basic information

Region (hg38): 10:86935540-86969481

Previous symbols: [ "EMILIN3" ]

Links

ENSG00000173269

∙ NCBI:79812 ∙ OMIM:608925 ∙ HGNC:19888 ∙ Uniprot:Q9H8L6 ∙ 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 MMRN2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MMRN2 gene is commonly pathogenic or not. These statistics are base on transcript: . 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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1 clinvar	1
missense			80 clinvar	10 clinvar		90
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	80	10	1

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MMRN2	protein_coding	protein_coding	ENST00000372027	7	33942

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.89e-11	0.807	125652	0	96	125748	0.000382

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.05	489	559	0.875	0.0000365	6098
Missense in Polyphen		113	112.65	1.0031		1505
Synonymous	2.20	211	256	0.825	0.0000181	1965
Loss of Function	1.70	21	31.2	0.672	0.00000156	340

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00105	0.00105
Ashkenazi Jewish	0.00109	0.00109
East Asian	0.000118	0.000109
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.000354	0.000352
Middle Eastern	0.000118	0.000109
South Asian	0.000101	0.0000980
Other	0.000820	0.000815

dbNSFP

Source: dbNSFP

Function: FUNCTION: Inhibits endothelial cells motility and acts as a negative regulator of angiogenesis; it downregulates KDR activation by binding VEGFA. {ECO:0000269|PubMed:22020326}.;
Pathway: VEGFA-VEGFR2 Signaling Pathway (Consensus)

Recessive Scores

pRec: 0.0975

Intolerance Scores

loftool: 0.678
rvis_EVS: -0.51
rvis_percentile_EVS: 21.8

Haploinsufficiency Scores

pHI: 0.130
hipred: N
hipred_score: 0.238
ghis: 0.554

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.170

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Mmrn2
Phenotype

Gene ontology

Biological process: cell migration involved in sprouting angiogenesis;positive regulation of cell-substrate adhesion;negative regulation of vascular endothelial growth factor receptor signaling pathway;negative regulation of cell migration involved in sprouting angiogenesis
Cellular component: basement membrane;extracellular space;extracellular matrix;collagen-containing extracellular matrix;extracellular exosome
Molecular function: extracellular matrix structural constituent;protein binding