MMRN2 multimerin 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MMRN2provided by HGNC
Official Full Name: multimerin 2provided by HGNC
Primary source: HGNC:HGNC:19888
See related: Ensembl:ENSG00000173269 MIM:608925; AllianceGenome:HGNC:19888
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EMILIN3; EMILIN-3; ENDOGLYX-1
Summary: This gene encodes a protein belonging to the member of elastin microfibril interface-located (EMILIN) protein family. This family member is an extracellular matrix glycoprotein that can interfere with tumor angiogenesis and growth. It serves as a transforming growth factor beta antagonist and can interfere with the VEGF-A/VEGFR2 pathway. A related pseudogene has been identified on chromosome 6. [provided by RefSeq, Aug 2012]
Expression: Broad expression in fat (RPKM 74.6), placenta (RPKM 22.4) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q23.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (86935540..86957615, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (87819295..87841328, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (88695297..88717372, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Multimerin-2 maintains vascular stability and permeability.
Title: Multimerin-2 maintains vascular stability and permeability.
Loss of Multimerin-2 and EMILIN-2 Expression in Gastric Cancer Associate with Altered Angiogenesis
Title: Loss of Multimerin-2 and EMILIN-2 Expression in Gastric Cancer Associate with Altered Angiogenesis.
Results provide evidence identifying MMRN2 as a key molecule in regulating endothelial cell (EC) function and demonstrate that, during the angiogenic stimulation, its expression is controlled both transcriptionally and post-translationally by MMP9 for efficient EC sprouting.
Title: The angiostatic molecule Multimerin 2 is processed by MMP-9 to allow sprouting angiogenesis.
Data identify MMRN2 as a specific ligand for CD93. CD93 and MMRN2 are co-expressed in the blood vessels of various tumors. Moreover, disruption of the CD93-MMRN2 interaction reduced endothelial cell adhesion and migration. Site-directed mutagenesis identified different residue hotspots either directly or indirectly involved in the binding and propose a molecular model in which the coiled-coil domain of MMRN2 is engaged.
Title: Dissecting the CD93-Multimerin 2 interaction involved in cell adhesion and migration of the activated endothelium.
These findings identify novel protein interactions involving CLEC14A, CD93 and CD248 with MMRN2 as targetable components of vessel formation
Title: Multimerin-2 is a ligand for group 14 family C-type lectins CLEC14A, CD93 and CD248 spanning the endothelial pericyte interface.
Results suggest that CLEC14A-MMRN2 binding has a role in inducing sprouting angiogenesis during tumor growth, which has the potential to be manipulated in future antiangiogenic therapy design.
Title: Blocking CLEC14A-MMRN2 binding inhibits sprouting angiogenesis and tumour growth.
CLEC14A is a matrix component which binds to MMRN2 in the process of endothelial cells transformation in tumor angiogenesis.
Title: SILAC-based proteomics of human primary endothelial cell morphogenesis unveils tumor angiogenic markers.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH46907 (e-PCR)
- UniSTS:4866

STS-AA025351 (e-PCR)
- UniSTS:54081

SHGC-152407 (e-PCR)
- UniSTS:177502

ksks370 (e-PCR)
- UniSTS:514420

D10S1687 (e-PCR), detects polymorphism
- UniSTS:73412

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables extracellular matrix structural constituent	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables receptor ligand activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in angiogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in cell adhesion	NAS Non-traceable Author Statement more info	PubMed
involved_in cell migration involved in sprouting angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell migration involved in sprouting angiogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of cell migration involved in sprouting angiogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of vascular endothelial growth factor receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of vascular endothelial growth factor receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of defense response to bacterium	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of epithelial tube formation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of morphogenesis of an epithelium	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in basement membrane	IEA Inferred from Electronic Annotation more info
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
part_of multimerin complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: multimerin-2

Names: EMILIN-like protein EndoGlyx-1; elastin microfibril interface located protein 3; elastin microfibril interfacer 3; endoGlyx-1 p125/p140 subunit

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_032913.3 RefSeqGene

Range

16867..38942

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_649

mRNA and Protein(s)

NM_024756.3 → NP_079032.2 multimerin-2 precursor

See identical proteins and their annotated locations for NP_079032.2

Status: REVIEWED

Source sequence(s)

AC025268

Consensus CDS

CCDS7379.1

UniProtKB/Swiss-Prot

Q504V7, Q6P2N2, Q9H8L6

UniProtKB/TrEMBL

B4E3H8

Related

ENSP00000361097.4, ENST00000372027.10

Conserved Domains (4) summary

PHA01547
Location:256 → 362

PHA01547; putative internal virion protein A

pfam00386
Location:827 → 946

C1q; C1q domain

pfam07546
Location:56 → 126

EMI; EMI domain

pfam15619
Location:299 → 476

Lebercilin; Ciliary protein causing Leber congenital amaurosis disease