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Protein

EMILIN-2

Gene

EMILIN2

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

Functioni

May be responsible for anchoring smooth muscle cells to elastic fibers, and may be involved not only in the formation of the elastic fiber, but also in the processes that regulate vessel assembly. Has cell adhesive capacity.

GO - Molecular functioni

  • extracellular matrix constituent conferring elasticity Source: UniProtKB

GO - Biological processi

Keywordsi

Biological processCell adhesion

Enzyme and pathway databases

ReactomeiR-HSA-2129379 Molecules associated with elastic fibres

Names & Taxonomyi

Protein namesi
Recommended name:
EMILIN-2
Alternative name(s):
Elastin microfibril interface-located protein 2
Short name:
Elastin microfibril interfacer 2
Protein FOAP-10
Gene namesi
Name:EMILIN2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

EuPathDBiHostDB:ENSG00000132205.10
HGNCiHGNC:19881 EMILIN2
MIMi608928 gene
neXtProtiNX_Q9BXX0

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

DisGeNETi84034
OpenTargetsiENSG00000132205
PharmGKBiPA134880588

Polymorphism and mutation databases

BioMutaiEMILIN2
DMDMi296439365

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 30Sequence analysisAdd BLAST30
ChainiPRO_000000781731 – 1053EMILIN-2Add BLAST1023

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi48 ↔ 110PROSITE-ProRule annotation
Glycosylationi55N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi74 ↔ 81PROSITE-ProRule annotation
Disulfide bondi109 ↔ 118PROSITE-ProRule annotation
Glycosylationi275N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi458N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi510N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi587N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi616N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi745N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi974N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ9BXX0
MaxQBiQ9BXX0
PaxDbiQ9BXX0
PeptideAtlasiQ9BXX0
PRIDEiQ9BXX0

PTM databases

iPTMnetiQ9BXX0
PhosphoSitePlusiQ9BXX0

Expressioni

Tissue specificityi

Highest levels are present in fetal heart and adult lung. Intermediate levels in peripheral leukocytes, placenta, and spinal cord and low expression in fetal brain, spleen, thymus, and lung and in adult heart, aorta, testis, bone marrow, small intestine, thymus, lymph node, and appendix.

Gene expression databases

BgeeiENSG00000132205
CleanExiHS_EMILIN2
GenevisibleiQ9BXX0 HS

Organism-specific databases

HPAiHPA040739

Interactioni

Subunit structurei

Homotrimer associated through a moderately stable interaction of the C-terminal globular C1q domains, allowing the nucleation of the triple helix and then a further quaternary assembly to higher-order polymers via intermolecular disulfide bonds (By similarity). Interacts with EMILIN1.By similarity

Protein-protein interaction databases

BioGridi123848, 13 interactors
STRINGi9606.ENSP00000254528

Structurei

3D structure databases

ProteinModelPortaliQ9BXX0
SMRiQ9BXX0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini44 – 120EMIPROSITE-ProRule annotationAdd BLAST77
Domaini840 – 892Collagen-likeAdd BLAST53
Domaini901 – 1052C1qPROSITE-ProRule annotationAdd BLAST152

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili177 – 215Sequence analysisAdd BLAST39
Coiled coili253 – 340Sequence analysisAdd BLAST88
Coiled coili369 – 389Sequence analysisAdd BLAST21
Coiled coili578 – 634Sequence analysisAdd BLAST57

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi784 – 839Pro-richAdd BLAST56
Compositional biasi893 – 901Pro-rich9

Keywords - Domaini

Coiled coil, Collagen, Signal

Phylogenomic databases

eggNOGiENOG410IFE8 Eukaryota
ENOG410ZUQR LUCA
GeneTreeiENSGT00660000095314
HOGENOMiHOG000060078
HOVERGENiHBG051474
InParanoidiQ9BXX0
OMAiQLEWRCC
OrthoDBiEOG091G0C3E
PhylomeDBiQ9BXX0
TreeFamiTF331033

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
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.

Q9BXX0-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MWQPRRPWPR VPWRWALALL ALVGAGLCHA GPQPGYPARP SARNKNWCAY
60 70 80 90 100
IVNKNVSCSV LEGSESFIQA QYNCAWNQMP CPSALVYRVN FRPRYVTRYK
110 120 130 140 150
TVTQLEWRCC PGFRGGDCQE GPKDPVKTLR PTPARPRNSL KKATDNEPSQ
160 170 180 190 200
FSEPRKTLSP TGTAQPSWGV DPKEGPQELQ EKKIQVLEEK VLRLTRTVLD
210 220 230 240 250
LQSSLAGVSE NLKHATQDDA SRTRAPGLSS QHPKPDTTVS GDTETGQSPG
260 270 280 290 300
VFNTKESGMK DIKSELAEVK DTLKNKSDKL EELDGKVKGY EGQLRQLQEA
310 320 330 340 350
AQGPTVTMTT NELYQAYVDS KIDALREELM EGMDRKLADL KNSCEYKLTG
360 370 380 390 400
LQQQCDDYGS SYLGVIELIG EKETSLRKEI NNLRARLQEP SAQANCCDSE
410 420 430 440 450
KNGDIGQQIK TLDQKIERVA EATRMLNGRL DNEFDRLIVP EPDVDFDAKW
460 470 480 490 500
NELDARINVT EKNAEEHCFY IEETLRGAIN GEVGDLKQLV DQKIQSLEDR
510 520 530 540 550
LGSVLLQMTN NTGAELSPPG AAALPGVSGS GDERVMMELN HLKDKVQVVE
560 570 580 590 600
DICLLNIQGK PHGMEGALPN REDRAVRDSL HLLKSLNDTM HRKFQETEQT
610 620 630 640 650
IQKLQQDFSF LYSQLNHTEN DVTHLQKEMS NCRAGENAGM GRFTKVGEQE
660 670 680 690 700
RTVDTLPSPQ HPVAHCCSQL EERWQRLQSQ VISELDACKE CTQGVQREVS
710 720 730 740 750
MVEGRVSHME KTCSKLDSIS GNLQRIKEGL NKHVSSLWNC VRQMNGTLRS
760 770 780 790 800
HSRDISGLKN SVQQFYSHVF QISTDLQDLV KFQPSAKAPS PPPPAEAPKE
810 820 830 840 850
PLQPEPAPPR PSGPATAEDP GRRPVLPQRP PEERPPQPPG STGVIAETGQ
860 870 880 890 900
AGPPAGAGVS GRGLPRGVDG QTGSGTVPGA EGFAGAPGYP KSPPVASPGA
910 920 930 940 950
PVPSLVSFSA GLTQKPFPSD GGVVLFNKVL VNDGDVYNPS TGVFTAPYDG
960 970 980 990 1000
RYLITATLTP ERDAYVEAVL SVSNASVAQL HTAGYRREFL EYHRPPGALH
1010 1020 1030 1040 1050
TCGGPGAFHL IVHLKAGDAV NVVVTGGKLA HTDFDEMYST FSGVFLYPFL

SHL
Length:1,053
Mass (Da):115,687
Last modified:May 18, 2010 - v3
Checksum:i9F2895AB0AC5E8EF
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti545K → G in AAK37963 (PubMed:11278945).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_057528215A → T. Corresponds to variant dbSNP:rs16943977Ensembl.1
Natural variantiVAR_057529259M → V. Corresponds to variant dbSNP:rs35267664Ensembl.1
Natural variantiVAR_062003903P → S1 PublicationCorresponds to variant dbSNP:rs56288451Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF270513 mRNA Translation: AAK37963.1
AP000919 Genomic DNA No translation available.
AP001011 Genomic DNA No translation available.
CH471113 Genomic DNA Translation: EAX01690.1
BC136541 mRNA Translation: AAI36542.1
AK090519 mRNA Translation: BAC03470.1
AB026706 mRNA Translation: BAB61020.1
CCDSiCCDS11828.1
RefSeqiNP_114437.2, NM_032048.2
UniGeneiHs.532815

Genome annotation databases

EnsembliENST00000254528; ENSP00000254528; ENSG00000132205
GeneIDi84034
KEGGihsa:84034
UCSCiuc002kln.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiEMIL2_HUMAN
AccessioniPrimary (citable) accession number: Q9BXX0
Secondary accession number(s): B2RMY3, Q8NBH3, Q96JQ4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 3, 2003
Last sequence update: May 18, 2010
Last modified: May 23, 2018
This is version 131 of the entry and version 3 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 18
    Human chromosome 18: 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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