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
  • C20orf130 3 4
  • EMILIN-3 3 4
  • EMILIN-5 3 4
  • EMILIN5 3 4
  • Chromosome 20 Open Reading Frame 130 2
  • DJ620E11.4 3

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 for EMILIN3 Gene

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 757.4 +0.1 77 1.2 RBPJ AHR EZH2 RNF2 ZGPAT ZNF335 MBD1 ZFX POLR2A EMILIN3 RF00017-3590 NONHSAG031795.2
GH20J041391 Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas 22 -27.2 -27245 5.4 RBPJ ZNF217 CREB1 ZNF121 MNT NFIB ELF3 AHR CEBPG ZNF644 EMILIN3 LPIN3 ENSG00000229398 lnc-LPIN3-3 RF00998-082
GH20J041145 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.9 +213.8 213767 15.3 SP1 SMARCE1 NR2F1 NR2F6 ZNF362 ETV6 RELA L3MBTL2 TEAD4 ELF3 LPIN3 EMILIN3 TOP1 ZHX3 PLCG1 CHD6 PLCG1-AS1 MIR6871
GH20J041307 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 10.5 +58.1 58109 3.9 SMARCE1 CREB1 HLF TEAD4 SP1 CEBPG CBFA2T2 SMARCA4 TRIM24 DPF2 LPIN3 EMILIN3 PLCG1 PLCG1-AS1 ZHX3 L13714-289 lnc-ZHX3-4
GH20J041171 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.5 +191.2 191212 8 CTCF CC2D1A RAD21 HDGF ZIC2 POLR2A REST TRIM22 ZNF143 ZNF512B LPIN3 PLCG1 PLCG1-AS1 EMILIN3 ZHX3 CHD6 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 UCSC Golden Path with GeneCards custom track

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
chr20:41,359,962-41,366,858
(GRCh38/hg38)
Size:
6,897 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

Blocks:
InterPro:
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: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

Clone Products

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:0031012 extracellular matrix IBA 21873635
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

GO ID Qualified GO term Evidence PubMed IDs
GO:0010811 positive regulation of cell-substrate adhesion IBA 21873635
genes like me logo Genes that share ontologies with EMILIN3: view

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) Additional mRNA sequences :
(48) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

No ASD Table

Relevant External Links for EMILIN3 Gene

GeneLoc Exon Structure for
EMILIN3
ECgene alternative splicing isoforms for
EMILIN3

Expression for EMILIN3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of EMILIN3 Gene:

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 33 32
  • 99.3 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EMILIN3 33 32
  • 86.06 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EMILIN3 33 32
  • 84.81 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Emilin3 17 33 32
  • 84.13 (n)
rat
(Rattus norvegicus)
Mammalia Emilin3 32
  • 83.86 (n)
oppossum
(Monodelphis domestica)
Mammalia EMILIN3 33
  • 54 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EMILIN3 33
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves EMILIN3 33 32
  • 62.22 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EMILIN3 33
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia emilin3 32
  • 52.09 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC101882042 32
  • 51.18 (n)
EMILIN3 (1 of 2) 33
  • 33 (a)
OneToMany
emilin3a 33
  • 31 (a)
OneToMany
Species where no ortholog for EMILIN3 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 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 from dbSNP and Humsavar for EMILIN3 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000120241 -- 41,366,671(-) CCCCCC/CCCCCCC 5_prime_UTR_variant
rs1000216539 -- 41,360,358(-) T/C 3_prime_UTR_variant
rs1000407103 -- 41,366,459(-) C/T intron_variant
rs1000645943 -- 41,366,024(-) G/T intron_variant
rs1000923589 -- 41,359,838(-) CCCCC/CCCC downstream_transcript_variant

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

Additional Disease Information for EMILIN3

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 56
  2. Preparation and characterization of a novel monoclonal antibody specific to human EMILIN-5 protein. (PMID: 18158787) Cao J (Hybridoma (2005) 2007) 3 23 56
  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 56
  4. Developmental expression and biochemical characterization of Emu family members. (PMID: 12221002) Leimeister C … Gessler M (Developmental biology 2002) 2 3 56
  5. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 56

Products for EMILIN3 Gene

Sources for EMILIN3 Gene