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Protein

Multimerin-2

Gene

MMRN2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Complete GO annotation...

Keywords - Biological processi

Angiogenesis

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

HGNCiHGNC:19888. MMRN2.

Subcellular locationi

GO - Cellular componenti

  • basement membrane Source: Ensembl
  • extracellular exosome Source: UniProtKB
  • extracellular matrix Source: BHF-UCL
  • extracellular space Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134991578.

Polymorphism and mutation databases

BioMutaiMMRN2.
DMDMi296437373.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2222Sequence analysisAdd
BLAST
Chaini23 – 949927Multimerin-2PRO_0000007822Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi58 ↔ 122PROSITE-ProRule annotation
Disulfide bondi85 ↔ 92PROSITE-ProRule annotation
Disulfide bondi121 ↔ 130PROSITE-ProRule annotation
Glycosylationi205 – 2051N-linked (GlcNAc...)Sequence analysis
Glycosylationi214 – 2141N-linked (GlcNAc...)Sequence analysis
Glycosylationi249 – 2491N-linked (GlcNAc...)Sequence analysis
Glycosylationi261 – 2611N-linked (GlcNAc...)Sequence analysis
Glycosylationi350 – 3501N-linked (GlcNAc...)Sequence analysis
Glycosylationi379 – 3791N-linked (GlcNAc...)Sequence analysis
Glycosylationi439 – 4391N-linked (GlcNAc...)Sequence analysis
Glycosylationi472 – 4721N-linked (GlcNAc...)Sequence analysis
Glycosylationi727 – 7271N-linked (GlcNAc...)Sequence analysis
Glycosylationi765 – 7651N-linked (GlcNAc...)Sequence analysis
Glycosylationi845 – 8451N-linked (GlcNAc...)1 Publication

Post-translational modificationi

N- and O-glycosylated.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ9H8L6.
PeptideAtlasiQ9H8L6.
PRIDEiQ9H8L6.

PTM databases

PhosphoSiteiQ9H8L6.

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 interaction.
IntActiQ9H8L6. 3 interactions.
MINTiMINT-6768987.

Structurei

3D structure databases

ProteinModelPortaliQ9H8L6.
SMRiQ9H8L6. Positions 825-948.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini54 – 13279EMIPROSITE-ProRule annotationAdd
BLAST
Domaini821 – 949129C1qPROSITE-ProRule annotationAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili167 – 18721Sequence analysisAdd
BLAST
Coiled coili292 – 487196Sequence analysisAdd
BLAST
Coiled coili547 – 59650Sequence analysisAdd
BLAST
Coiled coili688 – 71124Sequence analysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi779 – 80628Arg/Asp/Glu/Lys-rich (highly charged)Add
BLAST

Sequence similaritiesi

Contains 1 C1q domain.PROSITE-ProRule annotation
Contains 1 EMI domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Signal

Phylogenomic databases

eggNOGiENOG410IH6A. Eukaryota.
ENOG410ZPP3. LUCA.
GeneTreeiENSGT00660000095560.
HOGENOMiHOG000113611.
HOVERGENiHBG052486.
InParanoidiQ9H8L6.
OMAiQEQALGW.
OrthoDBiEOG091G079Q.
PhylomeDBiQ9H8L6.
TreeFamiTF336041.

Family and domain databases

Gene3Di2.60.120.40. 1 hit.
InterProiIPR001073. C1q_dom.
IPR011489. EMI_domain.
IPR008983. Tumour_necrosis_fac-like_dom.
[Graphical view]
PfamiPF00386. C1q. 1 hit.
PF07546. EMI. 1 hit.
[Graphical view]
PRINTSiPR00007. COMPLEMNTC1Q.
SMARTiSM00110. C1Q. 1 hit.
[Graphical view]
SUPFAMiSSF49842. SSF49842. 1 hit.
PROSITEiPS50871. C1Q. 1 hit.
PS51041. EMI. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti270 – 2701R → H in AAH64415 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti49 – 491G → S.1 Publication
Corresponds to variant rs3750823 [ dbSNP | Ensembl ].
VAR_019801
Natural varianti448 – 4481V → M in a colorectal cancer sample; somatic mutation. 1 Publication
Corresponds to variant rs748531029 [ dbSNP | Ensembl ].
VAR_036362
Natural varianti731 – 7311H → D.2 Publications
Corresponds to variant rs4934281 [ dbSNP | Ensembl ].
VAR_019802
Natural varianti831 – 8311S → R.
Corresponds to variant rs36073867 [ dbSNP | Ensembl ].
VAR_053076
Natural varianti910 – 9101V → L.
Corresponds to variant rs34587013 [ dbSNP | Ensembl ].
VAR_053077

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ9H8L6.
SMRiQ9H8L6. Positions 825-948.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122907. 1 interaction.
IntActiQ9H8L6. 3 interactions.
MINTiMINT-6768987.

PTM databases

PhosphoSiteiQ9H8L6.

Polymorphism and mutation databases

BioMutaiMMRN2.
DMDMi296437373.

Proteomic databases

PaxDbiQ9H8L6.
PeptideAtlasiQ9H8L6.
PRIDEiQ9H8L6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi79812.
GeneCardsiMMRN2.
H-InvDBHIX0008998.
HGNCiHGNC:19888. MMRN2.
HPAiHPA020741.
MIMi608925. gene.
neXtProtiNX_Q9H8L6.
PharmGKBiPA134991578.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IH6A. Eukaryota.
ENOG410ZPP3. LUCA.
GeneTreeiENSGT00660000095560.
HOGENOMiHOG000113611.
HOVERGENiHBG052486.
InParanoidiQ9H8L6.
OMAiQEQALGW.
OrthoDBiEOG091G079Q.
PhylomeDBiQ9H8L6.
TreeFamiTF336041.

Miscellaneous databases

GenomeRNAii79812.
PROiQ9H8L6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000173269.
CleanExiHS_EMILIN3.
HS_MMRN2.
ExpressionAtlasiQ9H8L6. baseline and differential.
GenevisibleiQ9H8L6. HS.

Family and domain databases

Gene3Di2.60.120.40. 1 hit.
InterProiIPR001073. C1q_dom.
IPR011489. EMI_domain.
IPR008983. Tumour_necrosis_fac-like_dom.
[Graphical view]
PfamiPF00386. C1q. 1 hit.
PF07546. EMI. 1 hit.
[Graphical view]
PRINTSiPR00007. COMPLEMNTC1Q.
SMARTiSM00110. C1Q. 1 hit.
[Graphical view]
SUPFAMiSSF49842. SSF49842. 1 hit.
PROSITEiPS50871. C1Q. 1 hit.
PS51041. EMI. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMMRN2_HUMAN
AccessioniPrimary (citable) accession number: Q9H8L6
Secondary accession number(s): Q504V7, Q6P2N2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 3, 2003
Last sequence update: May 18, 2010
Last modified: September 7, 2016
This is version 124 of the entry and version 2 of the sequence. [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
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.