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MMRN2 multimerin 2 [ Homo sapiens (human) ]

Gene ID: 79812, updated on 18-Aug-2020

Summary

Official Symbol
MMRN2provided by HGNC
Official Full Name
multimerin 2provided by HGNC
Primary source
HGNC:HGNC:19888
See related
Ensembl:ENSG00000173269 MIM:608925
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

Genomic context

See MMRN2 in Genome Data Viewer
Location:
10q23.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (86935540..86970480, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (88695297..88717425, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene bone morphogenetic protein receptor type 1A Neighboring gene RNA polymerase II associated protein 2 pseudogene 1 Neighboring gene RNA, U1 small nuclear 19, pseudogene Neighboring gene Sharpr-MPRA regulatory region 4131 Neighboring gene synuclein gamma Neighboring gene ArfGAP with GTPase domain, ankyrin repeat and PH domain 11 Neighboring gene adipogenesis regulatory factor Neighboring gene BMS1 pseudogene 3 Neighboring gene family with sequence similarity 25 member A

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ13465

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)

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_032913.2 RefSeqGene

    Range
    16814..38942
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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
    Q9H8L6
    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: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    86935540..86970480 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006717970.4XP_006718033.1  multimerin-2 isoform X1

    See identical proteins and their annotated locations for XP_006718033.1

    Conserved Domains (3) summary
    PHA01547
    Location:195301
    PHA01547; putative internal virion protein A
    pfam00386
    Location:766885
    C1q; C1q domain
    pfam07546
    Location:465
    EMI; EMI domain
  2. XM_005270153.1XP_005270210.1  multimerin-2 isoform X1

    See identical proteins and their annotated locations for XP_005270210.1

    Conserved Domains (3) summary
    PHA01547
    Location:195301
    PHA01547; putative internal virion protein A
    pfam00386
    Location:766885
    C1q; C1q domain
    pfam07546
    Location:465
    EMI; EMI domain
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