Aliases for EMILIN3 Gene

Aliases for EMILIN3 Gene

  • Elastin Microfibril Interfacer 3 2 3 4 5
  • Elastin Microfibril Interfacer 5 2 3 4
  • Elastin Microfibril Interface-Located Protein 3 3 4
  • Elastin Microfibril Interface-Located Protein 5 3 4
  • DJ620E11.4 2 3
  • C20orf130 3 4
  • EMILIN-3 3 4
  • EMILIN-5 3 4
  • EMILIN5 3 4
  • Chromosome 20 Open Reading Frame 130 2
  • EMILIN3 5

External Ids for EMILIN3 Gene

Previous HGNC Symbols for EMILIN3 Gene

  • C20orf130
  • EMILIN5

Previous GeneCards Identifiers for EMILIN3 Gene

  • GC10M088826
  • GC10M088360
  • GC20M040674
  • GC20M039422
  • GC20M039988
  • GC20M036728

Summaries for EMILIN3 Gene

GeneCards Summary for EMILIN3 Gene

EMILIN3 (Elastin Microfibril Interfacer 3) is a Protein Coding gene. An important paralog of this gene is EMILIN2.

Additional gene information for EMILIN3 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EMILIN3 Gene

Genomics for EMILIN3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EMILIN3 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
GH20J041366 Promoter 1.4 EPDnew Ensembl CraniofacialAtlas 607.5 +0.0 37 1.2 HNRNPL EZH2 RNF2 ZBTB26 ZNF335 ZGPAT MBD1 MXD3 ZFX POLR2A EMILIN3 RF00017-3592 NONHSAG031795.2 LPIN3
GH20J041391 Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas 22 -27.3 -27285 5.4 CEBPG CREB1 GATAD2A ZBTB33 ATF7 FOXA1 ZSCAN4 IRF2 SP1 CEBPA EMILIN3 LPIN3 ENSG00000229398 lnc-LPIN3-3 RF00998-082 CHD6
GH20J041145 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.9 +213.7 213727 15.3 SP1 GATAD2A ATF7 YBX1 ZNF629 LEF1 IKZF1 NFKBIZ RCOR2 JUND LPIN3 EMILIN3 ZHX3 PLCG1 CHD6 MIR6871 PLCG1-AS1
GH20J041307 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 10.5 +58.1 58069 3.9 YBX1 PRDM10 PKNOX1 DPF2 SOX6 CEBPA EP300 ZBTB20 HMBOX1 CEBPB LPIN3 EMILIN3 PLCG1 PLCG1-AS1 L13714-284 lnc-ZHX3-4 ZHX3
GH20J041171 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.5 +191.2 191172 8 CTCF ZNF143 ZIC2 REST RAD21 TRIM22 SCRT2 ZNF512B SP1 JUND LPIN3 PLCG1 PLCG1-AS1 EMILIN3 ZHX3 piR-38209 piR-47271 MIR6871
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EMILIN3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EMILIN3

Top Transcription factor binding sites by QIAGEN in the EMILIN3 gene promoter:
  • CUTL1
  • E47
  • Lmo2
  • MIF-1
  • MyoD
  • NRSF form 1
  • NRSF form 2
  • Pax-4a
  • Pax-5
  • Tal-1

Genomic Locations for EMILIN3 Gene

Genomic Locations for EMILIN3 Gene
chr20:41,359,962-41,366,818
(GRCh38/hg38)
Size:
6,857 bases
Orientation:
Minus strand
chr20:39,988,606-39,995,498
(GRCh37/hg19)
Size:
6,893 bases
Orientation:
Minus strand

Genomic View for EMILIN3 Gene

Genes around EMILIN3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EMILIN3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EMILIN3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EMILIN3 Gene

Proteins for EMILIN3 Gene

  • Protein details for EMILIN3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NT22-EMIL3_HUMAN
    Recommended name:
    EMILIN-3
    Protein Accession:
    Q9NT22
    Secondary Accessions:
    • Q495S5
    • Q495S6
    • Q495S7
    • Q76KT4

    Protein attributes for EMILIN3 Gene

    Size:
    766 amino acids
    Molecular mass:
    82647 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for EMILIN3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EMILIN3 Gene

Post-translational modifications for EMILIN3 Gene

  • Glycosylation at Asn443, Asn66, Asn562, Asn616, and Asn732
  • Modification sites at PhosphoSitePlus

Other Protein References for EMILIN3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EMILIN3 Gene

Domains & Families for EMILIN3 Gene

Gene Families for EMILIN3 Gene

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

Protein Domains for EMILIN3 Gene

InterPro:
Blocks:
  • EMI
ProtoNet:

Suggested Antigen Peptide Sequences for EMILIN3 Gene

GenScript: Design optimal peptide antigens:
  • Elastin microfibril interface-located protein 5 (EMIL3_HUMAN)
  • EMILIN3 protein (Q495S5_HUMAN)
genes like me logo Genes that share domains with EMILIN3: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for EMILIN3 Gene

Function for EMILIN3 Gene

Phenotypes From GWAS Catalog for EMILIN3 Gene

Gene Ontology (GO) - Molecular Function for EMILIN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
GO:0030023 extracellular matrix constituent conferring elasticity RCA 25037231
genes like me logo Genes that share ontologies with EMILIN3: view
genes like me logo Genes that share phenotypes with EMILIN3: view

Animal Models for EMILIN3 Gene

MGI Knock Outs for EMILIN3:

Animal Model Products

CRISPR Products

miRNA for EMILIN3 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EMILIN3

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EMILIN3 Gene

Localization for EMILIN3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EMILIN3 Gene

Secreted, extracellular space, extracellular matrix.

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 EMILIN3 gene
Compartment Confidence
extracellular 4
lysosome 1
golgi apparatus 1
plasma membrane 0
endoplasmic reticulum 0

Gene Ontology (GO) - Cellular Components for EMILIN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005737 cytoplasm IEA --
GO:0062023 colocalizes_with collagen-containing extracellular matrix ISS 22261194
genes like me logo Genes that share ontologies with EMILIN3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EMILIN3 Gene

Pathways & Interactions for EMILIN3 Gene

PathCards logo

SuperPathways for EMILIN3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EMILIN3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for EMILIN3 Gene

Drugs & Compounds for EMILIN3 Gene

No Compound Related Data Available

Transcripts for EMILIN3 Gene

mRNA/cDNA for EMILIN3 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EMILIN3

Alternative Splicing Database (ASD) splice patterns (SP) for EMILIN3 Gene

No ASD Table

Relevant External Links for EMILIN3 Gene

GeneLoc Exon Structure for
EMILIN3

Expression for EMILIN3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EMILIN3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EMILIN3 Gene

This gene is overexpressed in Nerve - Tibial (x6.2) and Ovary (x4.1).

Protein differential expression in normal tissues from HIPED for EMILIN3 Gene

This gene is overexpressed in Fetal ovary (29.5), Fetal testis (18.2), and Spinal cord (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EMILIN3 Gene



Protein tissue co-expression partners for EMILIN3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EMILIN3

SOURCE GeneReport for Unigene cluster for EMILIN3 Gene:

Hs.726525
genes like me logo Genes that share expression patterns with EMILIN3: view

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for EMILIN3 Gene

Orthologs for EMILIN3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EMILIN3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia EMILIN3 30 31
  • 99.3 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia EMILIN3 30 31
  • 86.06 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia EMILIN3 30 31
  • 84.81 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Emilin3 30 17 31
  • 84.13 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Emilin3 30
  • 83.86 (n)
Oppossum
(Monodelphis domestica)
Mammalia EMILIN3 31
  • 54 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia EMILIN3 31
  • 46 (a)
OneToOne
Chicken
(Gallus gallus)
Aves EMILIN3 30 31
  • 62.22 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia EMILIN3 31
  • 44 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia emilin3 30
  • 52.09 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC101882042 30
  • 51.18 (n)
EMILIN3 (1 of 2) 31
  • 33 (a)
OneToMany
emilin3a 31
  • 31 (a)
OneToMany
Species where no ortholog for EMILIN3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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 EMILIN3 Gene

ENSEMBL:
Gene Tree for EMILIN3 (if available)
TreeFam:
Gene Tree for EMILIN3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EMILIN3: view image

Paralogs for EMILIN3 Gene

Paralogs for EMILIN3 Gene

genes like me logo Genes that share paralogs with EMILIN3: view

Variants for EMILIN3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EMILIN3 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
689689 Uncertain Significance: Marfanoid habitus and intellectual disability 41,361,924(-) G/A MISSENSE_VARIANT
rs2235592 - p.Ser532Asn

Additional dbSNP identifiers (rs#s) for EMILIN3 Gene

Structural Variations from Database of Genomic Variants (DGV) for EMILIN3 Gene

Variant ID Type Subtype PubMed ID
nsv1064246 CNV loss 25217958
nsv3381 CNV deletion 18451855
nsv833984 CNV loss 17160897
nsv954039 CNV deletion 24416366

Variation tolerance for EMILIN3 Gene

Residual Variation Intolerance Score: 89.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.99; 87.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EMILIN3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EMILIN3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EMILIN3 Gene

Disorders for EMILIN3 Gene

No disorders were found for EMILIN3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EMILIN3 Gene

Publications for EMILIN3 Gene

  1. Molecular cloning and characterization of a novel gene, EMILIN-5, and its possible involvement in skeletal development. (PMID: 14706625) Doi M … Nakamura Y (Biochemical and biophysical research communications 2004) 3 4 23
  2. Preparation and characterization of a novel monoclonal antibody specific to human EMILIN-5 protein. (PMID: 18158787) Cao J (Hybridoma (2005) 2007) 3 23
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Developmental expression and biochemical characterization of Emu family members. (PMID: 12221002) Leimeister C … Gessler M (Developmental biology 2002) 2 3
  5. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4

Products for EMILIN3 Gene

Sources for EMILIN3 Gene