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    MMRN2 multimerin 2 [ Homo sapiens (human) ]

    Gene ID: 79812, updated on 4-Jan-2025

    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
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    Genomic context

    See MMRN2 in Genome Data Viewer
    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_000010.11Genomic Context describing neighboring genes Neighboring gene bone morphogenetic protein receptor type 1A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:88615649-88616230 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:88624164-88624816 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:88624817-88625468 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:88627361-88627948 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:88631460-88632021 Neighboring gene RNA polymerase II associated protein 2 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3697 Neighboring gene RNA, U1 small nuclear 19, pseudogene Neighboring gene Sharpr-MPRA regulatory region 4131 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3698 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:88700126-88700626 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:88704401-88704974 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:88713843-88714442 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:88715044-88715643 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:88718646-88719245 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:88720446-88721046 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:88721647-88722246 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3699 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3700 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:88726172-88726925 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:88726926-88727678 Neighboring gene Sharpr-MPRA regulatory region 6517 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:88730527-88731726 Neighboring gene uncharacterized LOC124902474 Neighboring gene ADIRF antisense RNA 1 Neighboring gene synuclein gamma Neighboring gene ArfGAP with GTPase domain, ankyrin repeat and PH domain 11 Neighboring gene adipogenesis regulatory factor

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    General gene information

    Clone Names

    • FLJ13465

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in angiogenesis PubMed 
    involved_in cell adhesion PubMed 
    involved_in cell migration involved in sprouting angiogenesis  
    involved_in negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis PubMed 
    involved_in negative regulation of cell migration PubMed 
    involved_in negative regulation of cell migration involved in sprouting angiogenesis  
    involved_in negative regulation of cell migration involved in sprouting angiogenesis PubMed 
    involved_in negative regulation of cell population proliferation PubMed 
    involved_in negative regulation of vascular endothelial growth factor receptor signaling pathway  
    involved_in negative regulation of vascular endothelial growth factor receptor signaling pathway PubMed 
    involved_in positive regulation of defense response to bacterium  
    involved_in positive regulation of epithelial tube formation PubMed 
    involved_in positive regulation of morphogenesis of an epithelium PubMed 
    involved_in signal transduction  

    General protein information

    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

    1. NG_032913.3 RefSeqGene

      Range
      16867..38942
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_649

    mRNA and Protein(s)

    1. NM_024756.3NP_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:256362
      PHA01547; putative internal virion protein A
      pfam00386
      Location:827946
      C1q; C1q domain
      pfam07546
      Location:56126
      EMI; EMI domain
      pfam15619
      Location:299476
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      86935540..86957615 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      87819295..87841328 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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