Aliases for EMILIN2 Gene

Aliases for EMILIN2 Gene

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

External Ids for EMILIN2 Gene

Previous GeneCards Identifiers for EMILIN2 Gene

  • GC18P002836
  • GC18P002837

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 and Myopia. Gene Ontology (GO) annotations related to this gene include extracellular matrix constituent conferring elasticity. An important paralog of this gene is EMILIN1.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for EMILIN2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EMILIN2 Gene

Genomics for EMILIN2 Gene

GeneHancer (GH) Regulatory Elements for EMILIN2 Gene

Promoters and enhancers for EMILIN2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J002846 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 539.3 +1.5 1470 3.8 ZNF639 ZIC2 ZBTB10 ZNF423 ZBTB26 EZH2 ZNF341 POLR2A NCOR1 RBM14 EMILIN2 METTL4 SMCHD1 piR-40110-292
GH18J002905 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.2 +60.2 60170 3.2 ZBTB40 CTCF POLR2G ZIC2 POLR2A TCF7 ZBTB26 ZBTB25 ZBTB7A CTBP1 EMILIN2 METTL4 SMCHD1 LPIN2 piR-57204 piR-42641
GH18J002845 Promoter/Enhancer 0.9 FANTOM5 Ensembl dbSUPER 521 -0.8 -757 0.3 SPI1 EZH2 EMILIN2 piR-36752-003
GH18J002847 Enhancer 0.4 ENCODE dbSUPER 500.7 -0.9 -923 0 SPI1 EMILIN2 piR-36752-003
GH18J003177 Enhancer 1.2 FANTOM5 ENCODE 35.4 +333.1 333127 3.7 RXRA SIN3A SP1 EP300 ZBTB11 RELA MEF2C REST TRIM22 POLR2A EMILIN2 TGIF1 MYOM1 ENSG00000252258 MYL12B LPIN2 ENSG00000265399 lnc-LPIN2-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EMILIN2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EMILIN2

Top Transcription factor binding sites by QIAGEN in the EMILIN2 gene promoter:
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F2
  • POU2F2 (Oct-2.1)
  • POU2F2B
  • POU2F2C

Genomic Locations for EMILIN2 Gene

Genomic Locations for EMILIN2 Gene
chr18:2,846,231-2,916,003
(GRCh38/hg38)
Size:
69,773 bases
Orientation:
Plus strand
chr18:2,847,028-2,915,991
(GRCh37/hg19)
Size:
68,964 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

Post-translational modifications for EMILIN2 Gene

  • Glycosylation at Asn55, Thr144, Ser159, Thr161, Thr163, Thr223, Thr238, Asn275, Asn458, Asn510, Asn587, Asn616, Ser658, Asn745, and Asn974
  • Modification sites at PhosphoSitePlus

Other Protein References for EMILIN2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EMILIN2 Gene

Domains & Families for EMILIN2 Gene

Gene Families for EMILIN2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for EMILIN2 Gene

Blocks:
  • Complement C1q protein
  • EMI
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EMILIN2 Gene

GenScript: Design optimal peptide antigens:
  • Protein FOAP-10 (EMIL2_HUMAN)
  • EMILIN2 protein (Q8N5L1_HUMAN)
genes like me logo Genes that share domains with EMILIN2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for EMILIN2 Gene

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.

Phenotypes From GWAS Catalog for EMILIN2 Gene

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 RCA,NAS 25037231
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:

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EMILIN2 gene
Compartment Confidence
extracellular 5
plasma membrane 1
mitochondrion 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for EMILIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,IDA 11278945
GO:0005581 collagen trimer IEA --
GO:0062023 collagen-containing extracellular matrix HDA 23658023
genes like me logo Genes that share ontologies with EMILIN2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EMILIN2 Gene

Pathways & Interactions for EMILIN2 Gene

PathCards logo

SuperPathways for EMILIN2 Gene

No Data Available

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

mRNA/cDNA for EMILIN2 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

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

No ASD Table

Relevant External Links for EMILIN2 Gene

GeneLoc Exon Structure for
EMILIN2

Expression for EMILIN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for EMILIN2 Gene



Protein tissue co-expression partners for EMILIN2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EMILIN2

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.

Evidence on tissue expression from TISSUES for EMILIN2 Gene

  • Kidney(4.2)
  • Liver(4.2)
  • Adrenal gland(4.1)
  • Heart(2.2)
genes like me logo Genes that share expression patterns with EMILIN2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for EMILIN2 Gene

Orthologs for EMILIN2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EMILIN2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EMILIN2 31 30
  • 98.1 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EMILIN2 31 30
  • 83.21 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EMILIN2 31 30
  • 79.29 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Emilin2 30
  • 77.69 (n)
mouse
(Mus musculus)
Mammalia Emilin2 17 31 30
  • 76.76 (n)
oppossum
(Monodelphis domestica)
Mammalia EMILIN2 31
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EMILIN2 31
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves EMILIN2 31 30
  • 62.17 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 74 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia emilin2 30
  • 57.14 (n)
Str.11831 30
zebrafish
(Danio rerio)
Actinopterygii LOC100001725 30
  • 49.1 (n)
EMILIN2 (2 of 2) 31
  • 41 (a)
OneToMany
emilin2a 31
  • 32 (a)
OneToMany
Species where no ortholog for EMILIN2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for EMILIN2: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EMILIN2 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
710514 Benign: not provided 2,908,958(+) C/T MISSENSE_VARIANT
725645 Benign: not provided 2,891,375(+) C/T SYNONYMOUS_VARIANT
726118 Likely Benign: not provided 2,890,820(+) G/A SYNONYMOUS_VARIANT
726343 Benign: not provided 2,891,492(+) A/G SYNONYMOUS_VARIANT
743337 Benign: not provided 2,890,718(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for EMILIN2 Gene

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

Variant ID Type Subtype PubMed ID
esv1007840 CNV deletion 20482838
esv1259581 CNV deletion 17803354
esv2178988 CNV deletion 18987734
esv2716681 CNV deletion 23290073
esv2761986 CNV gain 21179565
esv3554962 CNV deletion 23714750
esv3641577 CNV loss 21293372
esv3641578 CNV loss 21293372
nsv1062247 CNV gain 25217958
nsv1112153 CNV deletion 24896259
nsv1138595 CNV deletion 24896259
nsv1143694 CNV deletion 24896259
nsv1149493 CNV deletion 26484159
nsv1152529 CNV duplication 26484159
nsv2189 CNV deletion 18451855
nsv482935 CNV loss 15286789
nsv576251 CNV gain 21841781
nsv576312 CNV loss 21841781

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)

Additional Variant Information for EMILIN2 Gene

Human Gene Mutation Database (HGMD)
EMILIN2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EMILIN2

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

Disorders for EMILIN2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
porokeratosis
  • porokeratosis of mibelli
myopia
  • near vision
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for EMILIN2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. Isolation and characterization of EMILIN-2, a new component of the growing EMILINs family and a member of the EMI domain-containing superfamily. (PMID: 11278945) Doliana R … Colombatti A (The Journal of biological chemistry 2001) 3 4 54
  5. A protein-protein interaction map of the TNF-induced NF-κB signal transduction pathway. (PMID: 30561431) Van Quickelberghe E … Gevaert K (Scientific data 2018) 3 54

Products for EMILIN2 Gene

Sources for EMILIN2 Gene