Free for academic non-profit institutions. Other users need a Commercial license

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

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EMILIN3 Gene

Genomics for EMILIN3 Gene

Regulatory Elements for EMILIN3 Gene

Enhancers for EMILIN3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20F041395 0.6 Ensembl ENCODE 22 -29.1 -29098 1.7 ELF3 TBP CREB3L1 ARID4B DMAP1 ZSCAN9 RAD21 CREM MIXL1 SSRP1 EMILIN3 LPIN3 LOC100419859 ENSG00000235088
GH20F041397 0.2 ENCODE 12.7 -32.0 -32037 1.9 CTCF MAZ DPF2 NR2F2 ZNF217 CTBP1 FOS CUX1 LPIN3 EMILIN3 LOC100419859 ENSG00000235088
GH20F041410 0.2 ENCODE 11.7 -44.9 -44856 1.8 CTCF SMC3 RAD21 EMILIN3 LOC100419859 ENSG00000235088
GH20F041424 0.2 ENCODE 11.6 -57.4 -57379 0.1 OSR2 JUND RFX1 IKZF1 WT1 SP7 EMILIN3 ENSG00000235088 LOC100419859
GH20F041425 0.2 ENCODE 11.6 -58.5 -58457 1.9 HDAC1 TBL1XR1 ZSCAN9 ZBTB40 GATA2 MIXL1 NCOA1 SMARCB1 TFDP1 KLF16 EMILIN3 LPIN3 ENSG00000235088 LOC100419859
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around EMILIN3 on UCSC Golden Path with GeneCards custom track

Promoters for EMILIN3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001837490 258 801 MAFF RNF2 MBD1 MAFK KDM6A ZBTB26 EZH2

Genomic Location for EMILIN3 Gene

Chromosome:
20
Start:
41,359,966 bp from pter
End:
41,366,858 bp from pter
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 Asn 66, Asn 443, Asn 562, Asn 616, and Asn 732
  • 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

Protein Domains for EMILIN3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for EMILIN3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NT22

UniProtKB/Swiss-Prot:

EMIL3_HUMAN :
  • Contains 1 EMI domain.
Domain:
  • Contains 1 EMI domain.
genes like me logo Genes that share domains with EMILIN3: view

Function for EMILIN3 Gene

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

Animal Model Products

miRNA for EMILIN3 Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , 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
Jensen Localization Image for EMILIN3 Gene COMPARTMENTS Subcellular localization image for EMILIN3 gene
Compartment Confidence
extracellular 4
endoplasmic reticulum 1
golgi apparatus 1
lysosome 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for EMILIN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005737 cytoplasm IEA --
GO:0031012 colocalizes_with extracellular matrix ISS,IBA 22261194
genes like me logo Genes that share ontologies with EMILIN3: view

Pathways & Interactions for EMILIN3 Gene

SuperPathways for EMILIN3 Gene

No Data Available

Interacting Proteins for EMILIN3 Gene

STRING Interaction Network Preview (showing 2 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.ENSP00000332806%0d%0a9606.ENSP00000234040%0d%0a9606.ENSP00000447173%0d%0a
Selected Interacting proteins: ENSP00000332806 Q9NT22-EMIL3_HUMAN for EMILIN3 Gene via STRING IID

Gene Ontology (GO) - Biological Process for EMILIN3 Gene

None

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

Transcripts for EMILIN3 Gene

mRNA/cDNA for EMILIN3 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(48) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for EMILIN3 Gene

Elastin microfibril interfacer 3:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 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

Primer Products

No data available for mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.3 (n)
dog
(Canis familiaris)
Mammalia EMILIN3 34 35
  • 86.06 (n)
cow
(Bos Taurus)
Mammalia EMILIN3 34 35
  • 84.81 (n)
mouse
(Mus musculus)
Mammalia Emilin3 34 16 35
  • 84.13 (n)
rat
(Rattus norvegicus)
Mammalia Emilin3 34
  • 83.86 (n)
oppossum
(Monodelphis domestica)
Mammalia EMILIN3 35
  • 54 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EMILIN3 35
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves EMILIN3 34 35
  • 62.22 (n)
lizard
(Anolis carolinensis)
Reptilia EMILIN3 35
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia emilin3 34
  • 52.09 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC101882042 34
  • 51.18 (n)
EMILIN3 (1 of 2) 35
  • 33 (a)
OneToMany
emilin3a 35
  • 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)

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 Sequence Context AA Info Type
rs10470021 -- 41,367,520(+) TCGTG(C/T)AACTG upstream-variant-2KB
rs10470044 -- 41,367,385(+) GCCAC(C/G)TAGCC upstream-variant-2KB
rs111430066 -- 41,365,525(+) AGTCC(C/T)CACTC intron-variant
rs111489777 -- 41,362,323(+) CCCGG(C/G)CGGGG reference, missense
rs112768123 -- 41,366,124(+) CGCGC(C/G)GACCG intron-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)

Relevant External Links 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

Relevant External Links for EMILIN3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Biochem. Biophys. Res. Commun. 2004) 3 4 22 64
  2. Preparation and characterization of a novel monoclonal antibody specific to human EMILIN-5 protein. (PMID: 18158787) Cao J. (Hybridoma (Larchmt) 2007) 3 22 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Developmental expression and biochemical characterization of Emu family members. (PMID: 12221002) Leimeister C. … Gessler M. (Dev. Biol. 2002) 2 3 64
  5. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4 64

Products for EMILIN3 Gene

Sources for EMILIN3 Gene

Content
Loading form....