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

    Gene ID: 246707, updated on 9-Dec-2024

    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, Dec 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Emilin2 in Genome Data Viewer
    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_000083.7Genomic Context describing neighboring genes Neighboring gene myomesin 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:71533967-71534150 Neighboring gene STARR-positive B cell enhancer ABC_E4223 Neighboring gene STARR-positive B cell enhancer mm9_chr17:71564522-71564823 Neighboring gene STARR-positive B cell enhancer mm9_chr17:71573946-71574247 Neighboring gene lipin 2 Neighboring gene RIKEN cDNA 4930471L23 gene Neighboring gene STARR-seq mESC enhancer starr_43173 Neighboring gene ubiquitin specific peptidase 16 pseudogene Neighboring gene SMC hinge domain containing 1 Neighboring gene ATP synthase, H+ transporting mitochondrial F1 complex, beta subunit pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (3)  1 citation

    General gene information

    Markers

    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 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

    Preferred Names
    EMILIN-2
    Names
    basilin
    elastin microfibril interface located protein 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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)

    1. NM_001357336.2NP_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:770830
      Collagen; Collagen triple helix repeat (20 copies)
      pfam07546
      Location:236
      EMI; EMI domain
      cl23878
      Location:848986
      C1q; C1q domain
      cl25732
      Location:181537
      SMC_N; RecF/RecN/SMC N terminal domain
      cl27975
      Location:699843
      EBV-NA3; Epstein-Barr virus nuclear antigen 3 (EBNA-3)
    2. NM_001357337.2NP_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:850910
      Collagen; Collagen triple helix repeat (20 copies)
      pfam07546
      Location:49117
      EMI; EMI domain
      cl23878
      Location:9281066
      C1q; C1q domain
      cl25732
      Location:262618
      SMC_N; RecF/RecN/SMC N terminal domain
    3. NM_001357338.2NP_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:851911
      Collagen; Collagen triple helix repeat (20 copies)
      pfam07546
      Location:49117
      EMI; EMI domain
      cl23878
      Location:9201056
      C1q; C1q domain
      cl25732
      Location:262618
      SMC_N; RecF/RecN/SMC N terminal domain
      cl27975
      Location:780931
      EBV-NA3; Epstein-Barr virus nuclear antigen 3 (EBNA-3)
    4. NM_145158.5NP_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:851911
      Collagen; Collagen triple helix repeat (20 copies)
      pfam07546
      Location:49117
      EMI; EMI domain
      cl02488
      Location:266471
      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:9291067
      C1q; C1q domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000083.7 Reference GRCm39 C57BL/6J

      Range
      71559167..71618551 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)