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Aliases for EMILIN2 Gene

Aliases for EMILIN2 Gene

  • Elastin Microfibril Interfacer 2 2 3 4
  • 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 porokeratosis of mibelli and arteriovenous malformation. GO annotations related to this gene include extracellular matrix constituent conferring elasticity. An important paralog of this gene is COL26A1.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
GeneLoc Logo Gene 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:0005515 protein binding IPI 11278945
GO:0030023 extracellular matrix constituent conferring elasticity NAS 11278945
genes like me logo Genes that share ontologies with EMILIN2: view

Phenotypes for EMILIN2 Gene

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

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , 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

Gene Ontology (GO) - Cellular Components for EMILIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IDA 11278945
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005581 collagen trimer IEA --
GO:0031012 extracellular matrix IDA 23658023
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 --
GO:0008150 biological_process ND --
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

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

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 MAF
rs470594 -- 2,873,450(+) cgcct(A/G)taatc intron-variant
rs470598 -- 2,873,632(-) cctcc(C/T)gggtt intron-variant
rs470599 -- 2,873,643(-) tgcaa(A/G)ctccg intron-variant
rs470974 -- 2,851,384(+) GAGCT(A/G)TGATC intron-variant
rs471399 -- 2,868,766(+) ggctc(A/G)gcatc 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: 82.46% 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
porokeratosis of mibelli
arteriovenous malformation
  • racemose angioma
porokeratosis
  • porokeratosis, nos
- elite association

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. Increased expression of ephrin A1 in brain arteriovenous malformation: DNA microarray analysis. (PMID: 17576607) Sasahara A. … Inoue I. (Neurosurg Rev 2007) 23 67
  2. Genomic structure and organization of the high grade Myopia-2 locus (MYP2) critical region: mutation screening of 9 positional candidate genes. (PMID: 15723005) Scavello G.S. … Young T.L. (Mol. Vis. 2005) 23 67
  3. The EMILIN protein family. (PMID: 10963989) Colombatti A. … Spessotto P. (Matrix Biol. 2000) 23 67
  4. EMI, a novel cysteine-rich domain of EMILINs and other extracellular proteins, interacts with the gC1q domains and participates in multimerization. (PMID: 11068053) Doliana R. … Colombatti A. (FEBS Lett. 2000) 23 67
  5. Multiple-interactions among EMILIN1 and EMILIN2 N- and C-terminal domains. (PMID: 25445627) Bot S. … Doliana R. (Matrix Biol. 2015) 67

Products for EMILIN2 Gene

Sources for EMILIN2 Gene

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