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Protein

Multimerin-2

Gene

MMRN2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Inhibits endothelial cells motility and acts as a negative regulator of angiogenesis; it downregulates KDR activation by binding VEGFA.1 Publication

GO - Biological processi

Keywordsi

Biological processAngiogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
Multimerin-2
Alternative name(s):
EMILIN-3
Elastin microfibril interface located protein 3
Short name:
Elastin microfibril interfacer 3
EndoGlyx-1 p125/p140 subunit
Gene namesi
Name:MMRN2
Synonyms:EMILIN3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000173269.13
HGNCiHGNC:19888 MMRN2
MIMi608925 gene
neXtProtiNX_Q9H8L6

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000173269
PharmGKBiPA134991578

Polymorphism and mutation databases

BioMutaiMMRN2
DMDMi296437373

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 22Sequence analysisAdd BLAST22
ChainiPRO_000000782223 – 949Multimerin-2Add BLAST927

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi58 ↔ 122PROSITE-ProRule annotation
Disulfide bondi85 ↔ 92PROSITE-ProRule annotation
Disulfide bondi121 ↔ 130PROSITE-ProRule annotation
Glycosylationi205N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi214N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi249N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi261N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi350N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi379N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi439N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi472N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi727N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi765N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi845N-linked (GlcNAc...) asparagine1 Publication1

Post-translational modificationi

N- and O-glycosylated.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ9H8L6
PaxDbiQ9H8L6
PeptideAtlasiQ9H8L6
PRIDEiQ9H8L6
ProteomicsDBi81216

PTM databases

iPTMnetiQ9H8L6
PhosphoSitePlusiQ9H8L6

Expressioni

Tissue specificityi

Endothelium.1 Publication

Gene expression databases

BgeeiENSG00000173269
CleanExiHS_EMILIN3
HS_MMRN2
ExpressionAtlasiQ9H8L6 baseline and differential
GenevisibleiQ9H8L6 HS

Organism-specific databases

HPAiHPA020741

Interactioni

Subunit structurei

Heteromer of p110, p125, p140 and p200 subunits; disulfide-linked. Interacts with VEGFA.2 Publications

Protein-protein interaction databases

BioGridi122907, 1 interactor
ComplexPortaliCPX-450 Multimerin-2 complex
IntActiQ9H8L6, 4 interactors
STRINGi9606.ENSP00000361097

Structurei

3D structure databases

ProteinModelPortaliQ9H8L6
SMRiQ9H8L6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini54 – 132EMIPROSITE-ProRule annotationAdd BLAST79
Domaini821 – 949C1qPROSITE-ProRule annotationAdd BLAST129

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili167 – 187Sequence analysisAdd BLAST21
Coiled coili292 – 487Sequence analysisAdd BLAST196
Coiled coili547 – 596Sequence analysisAdd BLAST50
Coiled coili688 – 711Sequence analysisAdd BLAST24

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi779 – 806Arg/Asp/Glu/Lys-rich (highly charged)Add BLAST28

Keywords - Domaini

Coiled coil, Signal

Phylogenomic databases

eggNOGiENOG410IH6A Eukaryota
ENOG410ZPP3 LUCA
GeneTreeiENSGT00660000095560
HOGENOMiHOG000113611
HOVERGENiHBG052486
InParanoidiQ9H8L6
OMAiGFLMFKT
OrthoDBiEOG091G079Q
PhylomeDBiQ9H8L6
TreeFamiTF336041

Family and domain databases

Gene3Di2.60.120.40, 1 hit
InterProiView protein in InterPro
IPR001073 C1q_dom
IPR011489 EMI_domain
IPR008983 Tumour_necrosis_fac-like_dom
PfamiView protein in Pfam
PF00386 C1q, 1 hit
PF07546 EMI, 1 hit
PRINTSiPR00007 COMPLEMNTC1Q
SMARTiView protein in SMART
SM00110 C1Q, 1 hit
SUPFAMiSSF49842 SSF49842, 1 hit
PROSITEiView protein in PROSITE
PS50871 C1Q, 1 hit
PS51041 EMI, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q9H8L6-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MILSLLFSLG GPLGWGLLGA WAQASSTSLS DLQSSRTPGV WKAEAEDTGK
60 70 80 90 100
DPVGRNWCPY PMSKLVTLLA LCKTEKFLIH SQQPCPQGAP DCQKVKVMYR
110 120 130 140 150
MAHKPVYQVK QKVLTSLAWR CCPGYTGPNC EHHDSMAIPE PADPGDSHQE
160 170 180 190 200
PQDGPVSFKP GHLAAVINEV EVQQEQQEHL LGDLQNDVHR VADSLPGLWK
210 220 230 240 250
ALPGNLTAAV MEANQTGHEF PDRSLEQVLL PHVDTFLQVH FSPIWRSFNQ
260 270 280 290 300
SLHSLTQAIR NLSLDVEANR QAISRVQDSA VARADFQELG AKFEAKVQEN
310 320 330 340 350
TQRVGQLRQD VEDRLHAQHF TLHRSISELQ ADVDTKLKRL HKAQEAPGTN
360 370 380 390 400
GSLVLATPGA GARPEPDSLQ ARLGQLQRNL SELHMTTARR EEELQYTLED
410 420 430 440 450
MRATLTRHVD EIKELYSESD ETFDQISKVE RQVEELQVNH TALRELRVIL
460 470 480 490 500
MEKSLIMEEN KEEVERQLLE LNLTLQHLQG GHADLIKYVK DCNCQKLYLD
510 520 530 540 550
LDVIREGQRD ATRALEETQV SLDERRQLDG SSLQALQNAV DAVSLAVDAH
560 570 580 590 600
KAEGERARAA TSRLRSQVQA LDDEVGALKA AAAEARHEVR QLHSAFAALL
610 620 630 640 650
EDALRHEAVL AALFGEEVLE EMSEQTPGPL PLSYEQIRVA LQDAASGLQE
660 670 680 690 700
QALGWDELAA RVTALEQASE PPRPAEHLEP SHDAGREEAA TTALAGLARE
710 720 730 740 750
LQSLSNDVKN VGRCCEAEAG AGAASLNASL HGLHNALFAT QRSLEQHQRL
760 770 780 790 800
FHSLFGNFQG LMEANVSLDL GKLQTMLSRK GKKQQKDLEA PRKRDKKEAE
810 820 830 840 850
PLVDIRVTGP VPGALGAALW EAGSPVAFYA SFSEGTAALQ TVKFNTTYIN
860 870 880 890 900
IGSSYFPEHG YFRAPERGVY LFAVSVEFGP GPGTGQLVFG GHHRTPVCTT
910 920 930 940
GQGSGSTATV FAMAELQKGE RVWFELTQGS ITKRSLSGTA FGGFLMFKT
Length:949
Mass (Da):104,409
Last modified:May 18, 2010 - v2
Checksum:iE4F173CF6A01FA08
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti270R → H in AAH64415 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01980149G → S1 PublicationCorresponds to variant dbSNP:rs3750823Ensembl.1
Natural variantiVAR_036362448V → M in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs748531029Ensembl.1
Natural variantiVAR_019802731H → D2 PublicationsCorresponds to variant dbSNP:rs4934281Ensembl.1
Natural variantiVAR_053076831S → R. Corresponds to variant dbSNP:rs36073867Ensembl.1
Natural variantiVAR_053077910V → L. Corresponds to variant dbSNP:rs34587013Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK023527 mRNA Translation: BAB14599.1
AC025268 Genomic DNA No translation available.
BC064415 mRNA Translation: AAH64415.1
BC094744 mRNA Translation: AAH94744.1
CCDSiCCDS7379.1
RefSeqiNP_079032.2, NM_024756.2
UniGeneiHs.524479

Genome annotation databases

EnsembliENST00000372027; ENSP00000361097; ENSG00000173269
GeneIDi79812
KEGGihsa:79812
UCSCiuc001kea.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMMRN2_HUMAN
AccessioniPrimary (citable) accession number: Q9H8L6
Secondary accession number(s): Q504V7, Q6P2N2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 3, 2003
Last sequence update: May 18, 2010
Last modified: July 18, 2018
This is version 138 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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