Emilin2 elastin microfibril interfacer 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Emilin2provided by MGI
Official Full Name: elastin microfibril interfacer 2provided by MGI
Primary source: MGI:MGI:2389136
See related: Ensembl:ENSMUSG00000024053 AllianceGenome:MGI:2389136
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: FOAP-10
Summary: Predicted to enable extracellular matrix constituent conferring elasticity. Involved in positive regulation of blood coagulation. Located in collagen-containing extracellular matrix. Is expressed in several structures, including early conceptus; embryo mesenchyme; genitourinary system; heart; and hemolymphoid system gland. Orthologous to human EMILIN2 (elastin microfibril interfacer 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in subcutaneous fat pad adult (RPKM 10.2), mammary gland adult (RPKM 9.7) and 21 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 E1.3; 17 41.87 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (71559167..71618551, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (71252172..71311556, complement)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Emilin2 fosters vascular stability by promoting pericyte recruitment.
Title: Emilin2 fosters vascular stability by promoting pericyte recruitment.
Emilin-2 is a component of bone marrow extracellular matrix regulating mesenchymal stem cell differentiation and hematopoietic progenitors.
Title: Emilin-2 is a component of bone marrow extracellular matrix regulating mesenchymal stem cell differentiation and hematopoietic progenitors.
High EMILIN2 expression is associated with angiogenesis in B16 melanoma.
Title: The ablation of the matricellular protein EMILIN2 causes defective vascularization due to impaired EGFR-dependent IL-8 production affecting tumor growth.
EMILIN1 may attenuate the effects of EMILIN2 on platelet aggregation and thrombosis.
Title: EMILIN2 regulates platelet activation, thrombus formation, and clot retraction.
Data suggested mechanisms for homo- and hetero-typic EMILINs multimers formation: EMILIN1 or EMILIN2 alone can form trimers and multimers in the absence of each other or they can co-polymerize in a head-to-tail fashion to form hetero-typic multimers.
Title: Multiple-interactions among EMILIN1 and EMILIN2 N- and C-terminal domains.
cochlear emilin-2 mRNA is expressed in the tympanic border cells and an antibody detected protein in the extracellular matrix surrounding the collagenous fibers in the cochlear basilar membrane
Title: An emilin family extracellular matrix protein identified in the cochlear basilar membrane.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (3) 1 citation

General gene information

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Markers

RH130840 (e-PCR)
- UniSTS:214124

AI428560 (e-PCR)
- UniSTS:209338

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables extracellular matrix constituent conferring elasticity	RCA inferred from Reviewed Computational Analysis more info	PubMed

Process	Evidence Code	Pubs
involved_in cell adhesion mediated by integrin	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell migration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of angiogenesis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of blood coagulation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of defense response to bacterium	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of platelet aggregation	ISO Inferred from Sequence Orthology more info
involved_in regulation of blood pressure	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cell population proliferation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of EMILIN complex	ISS Inferred from Sequence or Structural Similarity more info
part_of collagen trimer	IEA Inferred from Electronic Annotation more info
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in extracellular region	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: EMILIN-2

Names: basilin; elastin microfibril interface located protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001357336.2 → NP_001344265.1 EMILIN-2 isoform 2

Status: VALIDATED

Source sequence(s)

AC126942

Consensus CDS

CCDS89144.1

UniProtKB/TrEMBL

A0A3B2WB50, Q3TBD3

Related

ENSMUSP00000156676.2, ENSMUST00000233245.2

Conserved Domains (5) summary

pfam01391
Location:770 → 830

Collagen; Collagen triple helix repeat (20 copies)

pfam07546
Location:2 → 36

EMI; EMI domain

cl23878
Location:848 → 986

C1q; C1q domain

cl25732
Location:181 → 537

SMC_N; RecF/RecN/SMC N terminal domain

cl27975
Location:699 → 843

EBV-NA3; Epstein-Barr virus nuclear antigen 3 (EBNA-3)
NM_001357337.2 → NP_001344266.1 EMILIN-2 isoform 3 precursor

Status: VALIDATED

Source sequence(s)

AC126942

Consensus CDS

CCDS89145.1

UniProtKB/TrEMBL

Q3TBC8, Q3TCC1, Q3TDP9

Related

ENSMUSP00000024849.11, ENSMUST00000024849.11

Conserved Domains (4) summary

pfam01391
Location:850 → 910

Collagen; Collagen triple helix repeat (20 copies)

pfam07546
Location:49 → 117

EMI; EMI domain

cl23878
Location:928 → 1066

C1q; C1q domain

cl25732
Location:262 → 618

SMC_N; RecF/RecN/SMC N terminal domain
NM_001357338.2 → NP_001344267.1 EMILIN-2 isoform 4 precursor

Status: VALIDATED

Source sequence(s)

AC126942

Consensus CDS

CCDS89146.1

UniProtKB/TrEMBL

A0A3B2W4E4, Q3TBC8, Q3TCC1

Related

ENSMUSP00000156894.2, ENSMUST00000232777.2

Conserved Domains (5) summary

pfam01391
Location:851 → 911

Collagen; Collagen triple helix repeat (20 copies)

pfam07546
Location:49 → 117

EMI; EMI domain

cl23878
Location:920 → 1056

C1q; C1q domain

cl25732
Location:262 → 618

SMC_N; RecF/RecN/SMC N terminal domain

cl27975
Location:780 → 931

EBV-NA3; Epstein-Barr virus nuclear antigen 3 (EBNA-3)
NM_145158.5 → NP_660140.1 EMILIN-2 isoform 1 precursor

See identical proteins and their annotated locations for NP_660140.1

Status: VALIDATED

Source sequence(s)

AC126942

Consensus CDS

CCDS37686.1

UniProtKB/Swiss-Prot

Q8K482

UniProtKB/TrEMBL

Q3TBC8, Q3TCC1, Q3U1J9

Related

ENSMUSP00000156446.2, ENSMUST00000233057.2

Conserved Domains (4) summary

pfam01391
Location:851 → 911

Collagen; Collagen triple helix repeat (20 copies)

pfam07546
Location:49 → 117

EMI; EMI domain

cl02488
Location:266 → 471

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cl23878
Location:929 → 1067

C1q; C1q domain