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Aliases for EMILIN2 Gene

Aliases for EMILIN2 Gene

  • Elastin Microfibril Interfacer 2 2 3 4 5
  • Elastin Microfibril Interface-Located Protein 2 3 4
  • Extracellular Glycoprotein EMILIN-2 3
  • Protein FOAP-10 4
  • EMILIN-2 3
  • FOAP-10 3

External Ids for EMILIN2 Gene

Previous GeneCards Identifiers for EMILIN2 Gene

  • GC18P002836

Summaries for EMILIN2 Gene

GeneCards Summary for EMILIN2 Gene

EMILIN2 (Elastin Microfibril Interfacer 2) is a Protein Coding gene. Diseases associated with EMILIN2 include arteriovenous malformation and porokeratosis of mibelli. GO annotations related to this gene include extracellular matrix constituent conferring elasticity. An important paralog of this gene is EMID1.

UniProtKB/Swiss-Prot for EMILIN2 Gene

  • 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.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EMILIN2 Gene

Genomics for EMILIN2 Gene

Regulatory Elements for EMILIN2 Gene

Promoters for EMILIN2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EMILIN2 on UCSC Golden Path with GeneCards custom track

Genomic Location for EMILIN2 Gene

Chromosome:
18
Start:
2,846,231 bp from pter
End:
2,915,993 bp from pter
Size:
69,763 bases
Orientation:
Plus strand

Genomic View for EMILIN2 Gene

Genes around EMILIN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EMILIN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EMILIN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EMILIN2 Gene

Proteins for EMILIN2 Gene

  • Protein details for EMILIN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BXX0-EMIL2_HUMAN
    Recommended name:
    EMILIN-2
    Protein Accession:
    Q9BXX0
    Secondary Accessions:
    • B2RMY3
    • Q8NBH3
    • Q96JQ4

    Protein attributes for EMILIN2 Gene

    Size:
    1053 amino acids
    Molecular mass:
    115687 Da
    Quaternary structure:
    • 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.

neXtProt entry for EMILIN2 Gene

Proteomics data for EMILIN2 Gene at MOPED

Post-translational modifications for EMILIN2 Gene

  • Glycosylation at Asn 55, Thr 144, Ser 159, Thr 161, Thr 223, Thr 238, Asn 275, Asn 458, Asn 510, Asn 587, Asn 616, Ser 658, Asn 745, and Asn 974
  • Modification sites at PhosphoSitePlus

Other Protein References for EMILIN2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for EMILIN2 Gene

Domains & Families for EMILIN2 Gene

Gene Families for EMILIN2 Gene

Protein Domains for EMILIN2 Gene

Suggested Antigen Peptide Sequences for EMILIN2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BXX0

UniProtKB/Swiss-Prot:

EMIL2_HUMAN :
  • Contains 1 C1q domain.
Domain:
  • Contains 1 C1q domain.
  • Contains 1 collagen-like domain.
  • Contains 1 EMI domain.
genes like me logo Genes that share domains with EMILIN2: view

Function for EMILIN2 Gene

Molecular function for EMILIN2 Gene

UniProtKB/Swiss-Prot Function:
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.

Gene Ontology (GO) - Molecular Function for EMILIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030023 extracellular matrix constituent conferring elasticity NAS 11278945
genes like me logo Genes that share ontologies with EMILIN2: view
genes like me logo Genes that share phenotypes with EMILIN2: view

Animal Models for EMILIN2 Gene

MGI Knock Outs for EMILIN2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EMILIN2 Gene

Localization for EMILIN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EMILIN2 Gene

Secreted, extracellular space, extracellular matrix. Note=Found mainly at the interface between amorphous elastin and microfibrils.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EMILIN2 Gene COMPARTMENTS Subcellular localization image for EMILIN2 gene
Compartment Confidence
extracellular 5
mitochondrion 2
cytosol 1
lysosome 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for EMILIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IDA 11278945
genes like me logo Genes that share ontologies with EMILIN2: view

Pathways & Interactions for EMILIN2 Gene

SuperPathways for EMILIN2 Gene

No Data Available

Interacting Proteins for EMILIN2 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000254528%0d%0a9606.ENSP00000369677%0d%0a
Selected Interacting proteins: Q9BXX0-EMIL2_HUMAN ENSP00000254528 for EMILIN2 Gene via I2D STRING

Gene Ontology (GO) - Biological Process for EMILIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
genes like me logo Genes that share ontologies with EMILIN2: view

No data available for Pathways by source and SIGNOR curated interactions for EMILIN2 Gene

Drugs & Compounds for EMILIN2 Gene

No Compound Related Data Available

Transcripts for EMILIN2 Gene

Unigene Clusters for EMILIN2 Gene

Elastin microfibril interfacer 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EMILIN2 Gene

No ASD Table

Relevant External Links for EMILIN2 Gene

GeneLoc Exon Structure for
EMILIN2
ECgene alternative splicing isoforms for
EMILIN2

Expression for EMILIN2 Gene

mRNA expression in normal human tissues for EMILIN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EMILIN2 Gene

This gene is overexpressed in Whole Blood (x11.4).

Protein differential expression in normal tissues from HIPED for EMILIN2 Gene

This gene is overexpressed in Testis (27.2), NK cells (8.5), Gallbladder (7.6), and Platelet (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for EMILIN2 Gene



SOURCE GeneReport for Unigene cluster for EMILIN2 Gene Hs.532815

mRNA Expression by UniProt/SwissProt for EMILIN2 Gene

Q9BXX0-EMIL2_HUMAN
Tissue specificity: 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.
genes like me logo Genes that share expression patterns with EMILIN2: view

Protein tissue co-expression partners for EMILIN2 Gene

Primer Products

In Situ Assay Products

Orthologs for EMILIN2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EMILIN2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia EMILIN2 35
  • 79.29 (n)
  • 77.72 (a)
EMILIN2 36
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EMILIN2 35
  • 83.21 (n)
  • 80.8 (a)
EMILIN2 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Emilin2 35
  • 76.76 (n)
  • 74.31 (a)
Emilin2 16
Emilin2 36
  • 73 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EMILIN2 35
  • 98.1 (n)
  • 97.34 (a)
EMILIN2 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Emilin2 35
  • 77.69 (n)
  • 76.8 (a)
oppossum
(Monodelphis domestica)
Mammalia EMILIN2 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EMILIN2 36
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves EMILIN2 35
  • 62.17 (n)
  • 55.62 (a)
EMILIN2 36
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 74 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia emilin2 35
  • 57.14 (n)
  • 48.83 (a)
Str.11831 35
zebrafish
(Danio rerio)
Actinopterygii LOC100001725 35
  • 49.1 (n)
  • 38.25 (a)
EMILIN2 (2 of 2) 36
  • 41 (a)
OneToMany
emilin2a 36
  • 32 (a)
OneToMany
Species with no ortholog for EMILIN2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EMILIN2 Gene

ENSEMBL:
Gene Tree for EMILIN2 (if available)
TreeFam:
Gene Tree for EMILIN2 (if available)

Paralogs for EMILIN2 Gene

Paralogs for EMILIN2 Gene

Pseudogenes.org Pseudogenes for EMILIN2 Gene

genes like me logo Genes that share paralogs with EMILIN2: view

Variants for EMILIN2 Gene

Sequence variations from dbSNP and Humsavar for EMILIN2 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs16943977 - 2,890,770(+) AACAT(A/G)CCACT nc-transcript-variant, reference, missense
rs35267664 - 2,890,902(-) CTTCA(C/T)GCCAG nc-transcript-variant, reference, missense
rs56288451 - 2,909,702(+) CGGTG(C/G/T)CTTCT nc-transcript-variant, reference, missense
rs495800 -- 2,885,679(-) tcagc(C/T)gggca intron-variant
rs598866 -- 2,885,439(-) CTCTT(C/T)ACAGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EMILIN2 Gene

Variant ID Type Subtype PubMed ID
esv2178988 CNV Deletion 18987734
esv2716681 CNV Deletion 23290073
esv1007840 CNV Deletion 20482838
esv1259581 CNV Deletion 17803354
nsv2189 CNV Loss 18451855

Variation tolerance for EMILIN2 Gene

Residual Variation Intolerance Score: 82.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.18; 75.91% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EMILIN2 Gene

HapMap Linkage Disequilibrium report
EMILIN2
Human Gene Mutation Database (HGMD)
EMILIN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EMILIN2 Gene

Disorders for EMILIN2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for EMILIN2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
arteriovenous malformation
  • arteriovenous hemangioma
porokeratosis of mibelli
porokeratosis
  • disseminated superficial actinic porokeratosis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for EMILIN2

Genetic Association Database (GAD)
EMILIN2
Human Genome Epidemiology (HuGE) Navigator
EMILIN2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EMILIN2
genes like me logo Genes that share disorders with EMILIN2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EMILIN2 Gene

Publications for EMILIN2 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48 67
  2. Multiple-interactions among EMILIN1 and EMILIN2 N- and C-terminal domains. (PMID: 25445627) Bot S. … Doliana R. (Matrix Biol. 2015) 3
  3. Identification of an interstitial 18p11.32-p11.31 duplication including the EMILIN2 gene in a family with porokeratosis of Mibelli. (PMID: 23593459) Occella C. … Tassano E. (PLoS ONE 2013) 3
  4. Comparative proteomic analysis of supportive and unsupportive extracellular matrix substrates for human embryonic stem cell maintenance. (PMID: 23658023) Soteriou D. … Kimber S.J. (J. Biol. Chem. 2013) 3
  5. Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. (PMID: 24324551) Deng X. … Seielstad M. (PLoS ONE 2013) 3

Products for EMILIN2 Gene

Sources for EMILIN2 Gene

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