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    Efemp2 epidermal growth factor-containing fibulin-like extracellular matrix protein 2 [ Mus musculus (house mouse) ]

    Gene ID: 58859, updated on 9-Dec-2024

    Summary

    Official Symbol
    Efemp2provided by MGI
    Official Full Name
    epidermal growth factor-containing fibulin-like extracellular matrix protein 2provided by MGI
    Primary source
    MGI:MGI:1891209
    See related
    Ensembl:ENSMUSG00000024909 AllianceGenome:MGI:1891209
    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
    MBP1; Fbln4; 0610011K11Rik
    Summary
    Predicted to enable heparin binding activity and protein homodimerization activity. Involved in several processes, including elastic fiber assembly; negative regulation of vascular associated smooth muscle cell proliferation; and vasculature development. Acts upstream of or within artery development. Located in basement membrane; elastic fiber; and microfibril. Is expressed in several structures, including central nervous system; genitourinary system; gut; immune system; and respiratory system. Used to study aortic aneurysm and cutis laxa. Human ortholog(s) of this gene implicated in aortic aneurysm; arterial tortuosity syndrome; autosomal recessive cutis laxa type IB; endometrial cancer; and osteosarcoma. Orthologous to human EFEMP2 (EGF containing fibulin extracellular matrix protein 2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in limb E14.5 (RPKM 51.1), ovary adult (RPKM 49.4) and 27 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Efemp2 in Genome Data Viewer
    Location:
    19 A; 19 4.33 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (5523974..5532548)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (5473946..5482520)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene fos-like antigen 1 Neighboring gene coiled-coil domain containing 85B Neighboring gene fibroblast growth factor (acidic) intracellular binding protein Neighboring gene cathepsin W Neighboring gene MUS81 structure-specific endonuclease subunit Neighboring gene CapStarr-seq enhancer MGSCv37_chr19:5488369-5488552 Neighboring gene STARR-positive B cell enhancer ABC_E779 Neighboring gene STARR-positive B cell enhancer ABC_E8730 Neighboring gene CapStarr-seq enhancer MGSCv37_chr19:5491370-5491523 Neighboring gene cofilin 1, non-muscle

    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 (8)  1 citation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables extracellular matrix constituent conferring elasticity RCA
    inferred from Reviewed Computational Analysis
    more info
    PubMed 
    enables heparin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables heparin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in aorta development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in aorta smooth muscle tissue morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within artery development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within elastic fiber assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in elastic fiber assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in elastic fiber assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in elastic fiber assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of vascular associated smooth muscle cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of aortic smooth muscle cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of collagen fibril organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of smooth muscle cell-matrix adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of smooth muscle cell-matrix adhesion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of collagen fibril organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in vascular associated smooth muscle cell development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in basement membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in collagen-containing extracellular matrix HDA PubMed 
    located_in elastic fiber IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in elastic fiber ISO
    Inferred from Sequence Orthology
    more info
     
    located_in elastic fiber ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular matrix ISO
    Inferred from Sequence Orthology
    more info
     
    located_in extracellular matrix TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in extracellular space HDA PubMed 
    located_in microfibril IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    EGF-containing fibulin-like extracellular matrix protein 2
    Names
    EGF-containing fibulin-like extracellular matrix protein 2 (Efemp2)
    FIBL-4
    fibulin-4
    mutant p53-binding protein 1

    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_001164352.1NP_001157824.1  EGF-containing fibulin-like extracellular matrix protein 2 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001157824.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) retains a segment in its 5' end which results in the use of an upstream start codon, compared to variant 1. The resulting protein (isoform 2) has a longer N-terminus when it is compared to isoform 1.
      Source sequence(s)
      AI327154, AK075585, CJ093169
      Consensus CDS
      CCDS50358.1
      UniProtKB/TrEMBL
      G5E8D6, Q9JM06
      Related
      ENSMUSP00000064719.8, ENSMUST00000070118.14
      Conserved Domains (3) summary
      smart00179
      Location:142182
      EGF_CA; Calcium-binding EGF-like domain
      cl00057
      Location:217257
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
      cl21504
      Location:302329
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    2. NM_001374680.1NP_001361609.1  EGF-containing fibulin-like extracellular matrix protein 2 isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      AC126029
      UniProtKB/TrEMBL
      A0A494BBF0, Q9JM06
      Related
      ENSMUSP00000158440.2, ENSMUST00000235523.2
      Conserved Domains (4) summary
      smart00179
      Location:135175
      EGF_CA; Calcium-binding EGF-like domain
      pfam12662
      Location:236258
      cEGF; Complement Clr-like EGF-like
      cl00057
      Location:210250
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
      cl21504
      Location:295322
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    3. NM_021474.3NP_067449.3  EGF-containing fibulin-like extracellular matrix protein 2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_067449.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the more frequently occurring transcript.
      Source sequence(s)
      AI327154, AK075585, BY234446
      Consensus CDS
      CCDS29466.1
      UniProtKB/Swiss-Prot
      Q9WVJ9
      UniProtKB/TrEMBL
      Q542X5, Q9JM06
      Related
      ENSMUSP00000133016.2, ENSMUST00000165485.8
      Conserved Domains (4) summary
      smart00179
      Location:123163
      EGF_CA; Calcium-binding EGF-like domain
      pfam12662
      Location:224246
      cEGF; Complement Clr-like EGF-like
      cl00057
      Location:198238
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
      cl21504
      Location:283310
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

    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_000085.7 Reference GRCm39 C57BL/6J

      Range
      5523974..5532548
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030251013.1XP_030106873.1  EGF-containing fibulin-like extracellular matrix protein 2 isoform X2

      UniProtKB/Swiss-Prot
      Q9WVJ9
      UniProtKB/TrEMBL
      Q542X5, Q9JM06
      Related
      ENSMUSP00000128827.3, ENSMUST00000166303.9
      Conserved Domains (4) summary
      smart00179
      Location:123163
      EGF_CA; Calcium-binding EGF-like domain
      pfam12662
      Location:224246
      cEGF; Complement Clr-like EGF-like
      cl00057
      Location:198238
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
      cl21504
      Location:283310
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    2. XM_006531807.1XP_006531870.1  EGF-containing fibulin-like extracellular matrix protein 2 isoform X1

      UniProtKB/TrEMBL
      Q9JM06
      Conserved Domains (4) summary
      smart00179
      Location:125165
      EGF_CA; Calcium-binding EGF-like domain
      pfam12662
      Location:226248
      cEGF; Complement Clr-like EGF-like
      cl00057
      Location:200240
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
      cl21504
      Location:285312
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    3. XM_006531808.1XP_006531871.1  EGF-containing fibulin-like extracellular matrix protein 2 isoform X2

      See identical proteins and their annotated locations for XP_006531871.1

      UniProtKB/Swiss-Prot
      Q9WVJ9
      UniProtKB/TrEMBL
      Q542X5, Q9JM06
      Conserved Domains (4) summary
      smart00179
      Location:123163
      EGF_CA; Calcium-binding EGF-like domain
      pfam12662
      Location:224246
      cEGF; Complement Clr-like EGF-like
      cl00057
      Location:198238
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
      cl21504
      Location:283310
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    4. XM_006531809.1XP_006531872.1  EGF-containing fibulin-like extracellular matrix protein 2 isoform X3

      UniProtKB/TrEMBL
      Q9JM06
      Conserved Domains (4) summary
      smart00179
      Location:101141
      EGF_CA; Calcium-binding EGF-like domain
      pfam12662
      Location:202224
      cEGF; Complement Clr-like EGF-like
      cl00057
      Location:176216
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
      cl21504
      Location:261288
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    5. XM_006531810.4XP_006531873.1  EGF-containing fibulin-like extracellular matrix protein 2 isoform X4

      UniProtKB/TrEMBL
      Q9JM06
      Conserved Domains (4) summary
      smart00179
      Location:5595
      EGF_CA; Calcium-binding EGF-like domain
      pfam12662
      Location:156178
      cEGF; Complement Clr-like EGF-like
      cl00057
      Location:130170
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
      cl21504
      Location:215242
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

    RNA

    1. XR_001782605.2 RNA Sequence