Human Gene EMILIN2 (ENST00000254528.4_4) from GENCODE V47lift37
  Description: elastin microfibril interfacer 2 (from RefSeq NM_032048.3)
Gencode Transcript: ENST00000254528.4_4
Gencode Gene: ENSG00000132205.11_7
Transcript (Including UTRs)
   Position: hg19 chr18:2,847,004-2,916,001 Size: 68,998 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr18:2,847,187-2,913,402 Size: 66,216 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr18:2,847,004-2,916,001)mRNA (may differ from genome)Protein (1053 aa)
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UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: EMIL2_HUMAN
DESCRIPTION: RecName: Full=EMILIN-2; AltName: Full=Elastin microfibril interface-located protein 2; Short=Elastin microfibril interfacer 2; AltName: Full=Protein FOAP-10; Flags: Precursor;
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.
SUBUNIT: 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.
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix. Note=Found mainly at the interface between amorphous elastin and microfibrils.
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.
SIMILARITY: Contains 1 C1q domain.
SIMILARITY: Contains 1 collagen-like domain.
SIMILARITY: Contains 1 EMI domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: EMILIN2
Diseases sorted by gene-association score: porokeratosis (8)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.98 RPKM in Whole Blood
Total median expression: 184.44 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -99.50183-0.544 Picture PostScript Text
3' UTR -904.402599-0.348 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001073 - C1q
IPR011489 - EMI_domain
IPR008983 - Tumour_necrosis_fac-like

Pfam Domains:
PF00386 - C1q domain
PF07546 - EMI domain

SCOP Domains:
103657 - BAR/IMD domain-like
140453 - EsxAB dimer-like
46966 - Spectrin repeat
49842 - TNF-like
90257 - Myosin rod fragments
57959 - Leucine zipper domain
57997 - Tropomyosin
58010 - Fibrinogen coiled-coil and central regions
111474 - Coronavirus S2 glycoprotein
161270 - PspA lactotransferrin-binding region
58100 - Bacterial hemolysins
58104 - Methyl-accepting chemotaxis protein (MCP) signaling domain

ModBase Predicted Comparative 3D Structure on Q9BXX0
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0030023 extracellular matrix constituent conferring elasticity

Biological Process:
GO:0007155 cell adhesion
GO:0008150 biological_process

Cellular Component:
GO:0005576 extracellular region
GO:0005581 collagen trimer
GO:0031012 extracellular matrix


-  Descriptions from all associated GenBank mRNAs
  AF270513 - Homo sapiens extracellular glycoprotein EMILIN-2 precursor, mRNA, complete cds.
BC032231 - Homo sapiens elastin microfibril interfacer 2, mRNA (cDNA clone IMAGE:5210850), partial cds.
BC136541 - Homo sapiens elastin microfibril interfacer 2, mRNA (cDNA clone MGC:168154 IMAGE:9020531), complete cds.
KJ904907 - Synthetic construct Homo sapiens clone ccsbBroadEn_14301 EMILIN2-like gene, encodes complete protein.
DQ574529 - Homo sapiens piRNA piR-42641, complete sequence.
AK090519 - Homo sapiens cDNA FLJ33200 fis, clone ADRGL2006677, weakly similar to Elastin microfibril interface located protein.
AX746493 - Sequence 18 from Patent EP1308459.
AB026706 - Homo sapiens mRNA for FOAP-10 protein, partial cds.
DQ590092 - Homo sapiens piRNA piR-57204, complete sequence.
JD132474 - Sequence 113498 from Patent EP1572962.
JD051971 - Sequence 32995 from Patent EP1572962.
JD519465 - Sequence 500489 from Patent EP1572962.
JD286219 - Sequence 267243 from Patent EP1572962.
JD517079 - Sequence 498103 from Patent EP1572962.
JD367125 - Sequence 348149 from Patent EP1572962.
JD425711 - Sequence 406735 from Patent EP1572962.
JD143584 - Sequence 124608 from Patent EP1572962.
JD061240 - Sequence 42264 from Patent EP1572962.
JD278521 - Sequence 259545 from Patent EP1572962.
JD343245 - Sequence 324269 from Patent EP1572962.
JD343590 - Sequence 324614 from Patent EP1572962.
JD562574 - Sequence 543598 from Patent EP1572962.
AL117592 - Homo sapiens mRNA; cDNA DKFZp586H1921 (from clone DKFZp586H1921).
JD281291 - Sequence 262315 from Patent EP1572962.
JD161604 - Sequence 142628 from Patent EP1572962.
JD523038 - Sequence 504062 from Patent EP1572962.
JD513566 - Sequence 494590 from Patent EP1572962.
JD099311 - Sequence 80335 from Patent EP1572962.
JD293455 - Sequence 274479 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B2RMY3, EMIL2_HUMAN, ENST00000254528.1, ENST00000254528.2, ENST00000254528.3, NM_032048, Q8NBH3, Q96JQ4, Q9BXX0, uc317fom.1, uc317fom.2
UCSC ID: ENST00000254528.4_4
RefSeq Accession: NM_032048.3
Protein: Q9BXX0 (aka EMIL2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.